17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
|
HSD17B3 (NM_000197.1) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency? 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency is a disorder that affects only individuals who are genetically male (one X chromosome and one Y chromosome) and causes abnormal development of the external genitals. The genitals of a male with this disorder may appear female at birth; ambiguous (not clearly male or female); or appear male with normal appearing testicles, but often with an unusually small penis and/or the urethra opening on the underside of the penis instead of the end (hypospadias). These differences are caused by a lack of testosterone in the body. Males with this disorder are usually infertile and not able to have their own biological children. They often will develop some secondary sex characteristics during puberty, such as increased muscle mass, facial hair, and deepening voice. Development of breast tissue may also occur at this time (called gynecomastia). Currently there is no cure for this condition and treatment is based on symptoms. What causes 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency? 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency is caused by a gene change, or mutation, in both copies of the HSD17B3 gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of this gene do not work correctly and the individual is genetically male (one X chromosome and one Y chromosome), it leads to the symptoms described above. |
3-Beta-Hydroxysteroid Dehydrogenase Deficiency, Type II
|
HSD3B2 (NM_000198.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
|
HSD3B2 (NM_ 000198.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency?
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency is an autosomal recessive condition. It is one of a group of inherited disorders called Congenital Adrenal Hyperplasia that affect the hormones made by the ovaries, testes, and adrenal glands. People with 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency do not make enough of certain hormones needed by the body. There are three forms of this condition: salt-wasting, non-salt-wasting, and non-classical. Babies with the salt-wasting form have symptoms that start shortly after birth and include poor feeding, vomiting, and dehydration which can lead to death if not treated. People with the non-salt-wasting and non-classical forms do not have these symptoms. All three forms result in decreased amounts of sex hormones. This leads to abnormal development of the genitals in males which sometimes results in external genitals that look female instead of male (ambiguous genitalia). Without treatment, both males and females with this condition do not go through normal puberty and often cannot have their own children. Without treatment, high blood pressure and low potassium levels are also common. People with the non-classical form of the condition have symptoms that are typically milder than the other two forms. Treatment includes hormone replacement therapies and sometimes other supplements or medications.
What causes 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency?
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency is caused by a gene change, or mutation, in both copies of the HSD3B2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
|
HSD3B2 (NM_000198.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
|
HMGCL (NM_000191.2) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
|
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
|
HMGCL (NM_000191.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
|
HMGCL (NM_ 000191.2) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
What is 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency?
3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG-CoA) Lyase Deficiency is an autosomal recessive condition. It is one of a group of inherited disorders known as Organic Acid Disorders. People with HMG-CoA Lyase Deficiency cannot break down leucine, one of the building blocks of protein, and cannot use body fat as energy. Signs and symptoms often start in infancy or early childhood and include lack of energy, poor feeding, poor muscle tone, diarrhea, vomiting, low blood sugar (hypoglycemia), breathing problems, seizures, and coma, which, if left untreated, can lead to death. Episodes of low blood sugar and metabolic acidosis, where toxic substances build up in the blood, can be triggered by going a long time without food (fasting), illness, or eating large amounts of protein. If the condition is not treated, repeated episodes of metabolic acidosis can lead to an enlarged heart and liver, vision and hearing loss, and intellectual disability. Symptoms vary from person to person and some people never show symptoms. Treatment includes a medical diet low in protein and fat, other supplements and medications, and avoidance of fasting. If treatment is started early, people with this condition can often live healthy lives. However, even with careful treatment, some children still have repeated episodes of metabolic acidosis and low blood sugar.
What causes 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency?
HMG-CoA Lyase Deficiency is caused by a gene change, or mutation, in both copies of the HMGCL gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
HADH (NM_005327.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is 3-Hydroxyacyl-CoA Dehydrogenase Deficiency? 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (also called HADH Deficiency) is an inherited disorder in which the body cannot break down and use certain fats for energy. It is a type of inherited condition called a fatty acid oxidation disorder. Most people with this disorder never experience symptoms, but some affected individuals experience serious health problems. Signs and symptoms of 3-Hydroxyacyl-CoA Dehydrogenase Deficiency typically appear during infancy or early childhood and are highly variable from person to person. Symptoms can include episodes of vomiting, lack of energy, weak muscle tone, low blood sugar (hypoglycemia), liver problems, seizures, and high levels of insulin (hyperinsulinism). These episodes are often triggered by going a long time without eating (fasting) or during illness. If not treated, children with 3-Hydroxyacyl-CoA Dehydrogenase Deficiency are at risk for repeated episodes of the symptoms described above, which can result in breathing or heart problems, seizures, coma, and sudden death. Treatment includes a medical low-fat diet, avoidance of fasting, and other supplements that help prevent or lessen the symptoms. Rarely, mutations in the same gene cause a related disorder called Familial Hyperinsulinism. This condition causes high levels of insulin in the blood which results in hypoglycemia and the related symptoms noted above but the treatment is different. The information below is about 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, the more common condition caused by mutations in the HADH genes. However Familial Hyperinsulinism is inherited in the same manner and has the same reproductive options. It is sometimes, but not always, possible to determine whether a specific HADH gene mutation will cause 3-Hydroxyacyl-CoA Dehydrogenase Deficiency or Familial Hyperinsulinism. What causes 3-Hydroxyacyl-CoA Dehydrogenase Deficiency? 3-Hydroxyacyl-CoA Dehydrogenase Deficiency is caused by a gene change, or mutation, in both copies of the HADH gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
|
MCCC1 (NM_ 020166.4) |
Caucasian |
1 in 137 |
1 in 1134 |
88% |
|
General population |
1 in 147 |
1 in 2921 |
>95% |
What is 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency?
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency is an autosomal recessive condition. It is one of a group of inherited disorders known as Organic Acid Disorders. People with 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency cannot break down a building block of protein called leucine. When food containing leucine is eaten, harmful substances build up in the blood causing repeated episodes of metabolic acidosis. These episodes may include vomiting, lack of energy, muscle weakness, sleep disturbances, breathing problems, low blood sugar (hypoglycemia), seizures, coma, and sometimes even death. These episodes are often triggered by eating large amounts of protein, going a long time without food (fasting), or illness. If not treated, this condition can lead to developmental delays and intellectual disability, poor growth, muscle problems, and liver failure. Symptoms can range from mild to severe and often begin in infancy or childhood, although some people do not have symptoms until adulthood and others never show symptoms. Treatment for children with 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency who show symptoms includes a medical low-protein diet and specific supplements. Treatment can prevent or lessen the symptoms in most people with this condition although some still have repeated episodes of metabolic acidosis even with careful treatment.
What causes 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency?
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency is caused by a gene change, or mutation, in both copies of the MCCC1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
|
MCCC1 (NM_020166.4) |
Caucasian |
1 in 137 |
1 in 1134 |
88% |
|
General population |
1 in 147 |
1 in 2921 |
>95% |
|
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
|
MCCC1 (NM_020166.4) |
Caucasian |
1 in 137 |
1 in 13601 |
99% |
|
General population |
1 in 147 |
1 in 14601 |
99% |
|
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
|
MCCC2 (NM_022132.4) |
Caucasian |
1 in 112 |
1 in 11101 |
99% |
|
General population |
1 in 120 |
1 in 11901 |
99% |
|
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
|
MCCC2 (NM_ 022132.4) |
Caucasian |
1 in 112 |
1 in 1234 |
91% |
|
General population |
1 in 120 |
1 in 2381 |
>95% |
What is 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency?
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency is an autosomal recessive condition. It is one of a group of inherited disorders known as Organic Acid Disorders. People with 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency cannot break down a building block of protein called leucine. When food containing leucine is eaten, harmful substances build up in the blood causing repeated episodes of metabolic acidosis. These episodes may include vomiting, lack of energy, muscle weakness, sleep disturbances, breathing problems, low blood sugar (hypoglycemia), seizures, coma, and sometimes even death. These episodes are often triggered by eating large amounts of protein, going a long time without food (fasting), or illness. If not treated, this condition can lead to developmental delays and intellectual disability, poor growth, muscle problems, and liver failure. Symptoms can range from mild to severe and often begin in infancy or childhood, although some people do not have symptoms until adulthood and others never show symptoms. Treatment for children with 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency who show symptoms includes a medical low-protein diet and specific supplements. Treatment can prevent or lessen the symptoms in most people with this condition although some still have repeated episodes of metabolic acidosis even with careful treatment.
What causes 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency?
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency is caused by a gene change, or mutation, in both copies of the MCCC2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work properly, it leads to the symptoms described above. |
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
|
MCCC2 (NM_022132.4) |
Caucasian |
1 in 112 |
1 in 1234 |
91% |
|
General population |
1 in 120 |
1 in 2381 |
>95% |
|
3-Methylglutaconic Aciduria, Type III
|
OPA3 (NM_025136.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Iraqi |
1 in 13 |
1 in 241 |
>95% |
|
3-Phosphoglycerate Dehydrogenase Deficiency
|
PHGDH (NM_006623.3) |
Ashkenazi Jewish |
1 in 453 |
1 in 9041 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
3-Phosphoglycerate Dehydrogenase Deficiency
|
PHGDH (NM_006623.3) |
Ashkenazi Jewish |
1 in 453 |
1 in 45201 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
3-Phosphoglycerate Dehydrogenase Deficiency
|
PHGDH (NM_ 006623.3) |
Ashkenazi Jewish |
1 in 453 |
1 in 9041 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is 3-Phosphoglycerate Dehydrogenase Deficiency?
3-Phosphoglycerate Dehydrogenase Deficiency is an autosomal recessive disorder that affects the brain and nervous system. Signs and symptoms usually begin infancy and include small head size (microcephaly), developmental delays, growth delay, intellectual disability, and seizures. The brain develops abnormally and over time there is loss of brain tissue. Affected infants may not achieve developmental milestones such as speech or sitting up without assistance. In rare cases symptoms do not begin until childhood or adulthood. Currently there is no cure for this condition; however, amino acid therapy may reduce seizures and other symptoms if treatment is started early in life.
What causes 3-Phosphoglycerate Dehydrogenase Deficiency?
3-Phosphoglycerate Dehydrogenase Deficiency is caused by a change, or mutation, in both copies of the PHGDH gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the PHGDH genes is important for development and function of the brain and spinal cord (central nervous system). When both copies of the PHGDH gene pair do not work correctly it leads to the symptoms described above. |
5-Alpha-Reductase Deficiency
|
SRD5A2 (NM_000348.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
|
PTS (NM_ 000317.2) |
Asian |
1 in 122 |
1 in 2421 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency?
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency is an autosomal recessive disorder in which the body cannot break down a specific building block of protein called phenylalanine. Phenylalanine is in most protein found in the diet and, if it cannot be broken down, it builds up in the blood and causes damage to the brain and nervous system. If untreated, symptoms of PTPS Deficiency usually begin shortly after birth and include seizures, abnormal muscle tone, unusual movements, and intellectual disability. Early treatment with a special medical low-phenylalanine diet and other supplements can often prevent or lessen the severity of symptoms.
What causes 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency?
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency is caused by a gene change, or mutation, in both copies of the PTS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
|
PTS (NM_000317.2) |
Asian |
1 in 122 |
1 in 2421 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
|
PTS (NM_000317.2) |
Asian |
1 in 122 |
1 in 12101 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Abca4-Related Conditions
|
ABCA4 (NM_000350.2) |
General population |
1 in 45 |
1 in 4401 |
99% |
|
|
Abetalipoproteinemia
|
MTTP (NM_000253.3) |
Ashkenazi Jewish |
1 in 186 |
1 in 18501 |
99% |
|
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
MTTP (NM_ 000253.3) |
Ashkenazi Jewish |
1 in 186 |
1 in 3701 |
>95% |
|
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
95% |
What is Abetalipoproteinemia?
Abetalipoproteinemia is a rare autosomal recessive disorder that prevents the body from completely absorbing certain dietary fats and the essential vitamins A, D, E, and K. Signs and symptoms of Abetalipoproteinemia usually begin in infancy but may first appear later in childhood, or rarely, not until adulthood. Symptoms include poor weight gain and diarrhea along with abnormally shaped red blood cells (acanthocytosis). Affected children often have problems with balance, coordination, and walking due to problems with nerve function and muscle weakness. Anemia and a type of vision loss called Retinitis Pigmentosa may also occur. Treatment to attempt to slow down the progression of symptoms includes supplementation with the fat-soluble vitamins and other supplements along with special low-fat medical diet.
What causes Abetalipoproteinemia?
Abetalipoproteinemia is caused by a gene change, or mutation, in both copies of the MTTP gene pair. These mutations cause the genes to not work properly or not work at all. The MTTP genes are important in helping the body absorb fats, cholesterol, and fat-soluble vitamins from the diet. When both copies of the MTTP gene pair do not work correctly, it leads to the symptoms described above. |
Abetalipoproteinemia
|
MTTP (NM_000253.3) |
Ashkenazi Jewish |
1 in 186 |
1 in 3701 |
>95% |
|
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
Achondrogenesis, Type 1B
|
SLC26A2 (NM_000112.3) |
Finnish |
1 in 50 |
1 in 4901 |
99% |
|
General population |
1 in 158 |
1 in 15701 |
99% |
|
|
SLC26A2 (NM_ 000112.3) |
Finnish |
1 in 50 |
1 in 981 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Achondrogenesis, Type 1B?
Achondrogenesis, Type 1B is an autosomal recessive disorder that affects cartilage and bone. Signs and symptoms of this disorder include abnormal bone and joint development, a small rib cage that may cause breathing problems in the newborn period, short stature, short arms and legs, curvature of the spine (scoliosis), painful joints that restrict movement and early arthritis that worsens over time. Bone and cartilage abnormalities may also occur in the hands, feet, outer portions of the ears, head, and face. Intelligence is not affected. Currently there is no cure or specific treatment for Achondrogenesis, Type IB.
Three other related but less common inherited disorders are sometimes caused by specific mutations in the same gene. Diastrophic Dysplasia includes short stature, joint restrictions (contractures), cleft palate and other minor features. Atelosteogenesis Type 2 has symptoms similar to Diastrophic Dysplasia but is fatal in the newborn period. Recessive Multiple Epiphyseal Dysplasia includes short stature, joint pain, curvature of the spine, abnormalities of the hands, feet, and knees, and sometimes other birth defects.
What causes Achondrogenesis, Type 1B?
Achondrogenesis, Type 1B is caused by a gene change, or mutation, in both copies of the SLC26A2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work properly, it leads to the symptoms described above. |
Achromatopsia, CNGB3-Related
|
CNGB3 (NM_ 019098.4) |
Caucasian |
1 in 91 |
1 in 1801 |
>95% |
|
General population |
1 in 98 |
1 in 1941 |
>95% |
What is Achromatopsia, CNGB3-Related?
Achromatopsia, CNGB3-Related is an autosomal recessive condition that causes partial or complete loss of color vision. Most people with this condition have complete Achromatopsia, and can only see in shades of black, white, and gray. Other vision problems seen with Achromatopsia, CNGB3-Related include light sensitivity, reduced sharpness of vision, involuntary shaking movements of the eye (nystagmus), farsightedness or, less commonly, nearsightedness. It is common for light sensitivity and nystagmus to appear within the first few weeks or months of life, although this may improve slightly over time. Achromatopsia, CNGB3-Related is not the same as colorblindness, a condition where color can be seen but it is difficult to distinguish between certain colors. Currently there is no cure for this condition. Although rare, some individuals will have incomplete Achromatopsia with the ability to perceive some color. Also rare is another form of the disorder called Progressive Cone Dystrophy where loss of color doesn’t begin until childhood or teenage years.
What causes Achromatopsia, CNGB3-Related?
Achromatopsia, CNGB3-Related is caused by mutations in both copies of the CNGB3 gene pair. These mutations cause the CNGB3 genes to not work properly or not work at all. When both copies of the CNGB3 gene pair do not work correctly, it causes the symptoms described above. |
Achromatopsia, CNGB3-Related
|
CNGB3 (NM_019098.4) |
Caucasian |
1 in 91 |
1 in 1801 |
>95% |
|
General population |
1 in 98 |
1 in 1941 |
>95% |
|
Achromatopsia, CNGB3-Related
|
CNGB3 (NM_019098.4) |
Caucasian |
1 in 91 |
1 in 9001 |
99% |
|
General population |
1 in 98 |
1 in 9701 |
99% |
|
Acrodermatitis Enteropathica
|
SLC39A4 (NM_130849.3) |
General population |
1 in 354 |
1 in 35301 |
99% |
|
|
Acrodermatitis Enteropathica
|
SLC39A4 (NM_ 130849.3) |
General population |
1 in 354 |
1 in 7061 |
>95% |
|
What is Acrodermatitis Enteropathica?
Acrodermatitis Enteropathica is an autosomal recessive disorder that causes a deficiency of zinc in the body. People with this condition cannot absorb zinc from food. If the condition is not treated, symptoms appear in infancy and include irritability, diarrhea, hair loss, poor growth, abnormal nails, recurrent infections, and irritation of the skin called dermatitis. The skin problems, which include dry scaly skin and pimple-like lesions that may blister, occur most often around the mouth and anus. Psychological and neurological problems may also occur. Treatment with zinc supplements can prevent or improve symptoms. People with this condition who are treated can often live healthy lives. Without treatment this condition can be fatal.
What causes Acrodermatitis Enteropathica?
Acrodermatitis Enteropathica is caused by a gene change, or mutation, in both copies of the SLC39A4 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the SLC39A4 genes is necessary for the body to absorb zinc. When both copies of the SLC39A4 gene do not work correctly, the body is unable to absorb zinc which leads to the symptoms described above. |
Acrodermatitis Enteropathica
|
SLC39A4 (NM_130849.3) |
General population |
1 in 354 |
1 in 7061 |
>95% |
|
|
Action Myoclonus–Renal Failure (AMRF) Syndrome
|
SCARB2 (NM_005506.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Action Myoclonus-Renal Failure (AMRF) Syndrome? Action Myoclonus-Renal Failure (AMRF) Syndrome is an inherited disorder that affects the nervous system and the kidneys. Signs and symptoms vary from person to person, start anywhere from childhood to early adulthood, and usually begin with tremors in the fingers and hands that happen at rest and with small movements. With time, the tremors worsen and start to affect other parts of the body - most often the head, tongue, mouth, eyelids, torso, arms, and legs. As the tremors progress, they become jerky (called myoclonic jerks) and can be triggered by intentional movements (action myoclonus). Other symptoms found in some affected individuals may include seizures, peripheral neuropathy (numbness and pain in the limbs), hearing loss, and/or kidney problems. Typical kidney problems, found in some but not all cases, start with proteinuria (too much protein in the urine); kidney function then worsens until the kidneys no longer work (end stage renal disease). At that time, dialysis, followed by kidney transplantation is needed. Currently there is no cure for this disorder and treatment is based on symptoms. What causes Action Myoclonus-Renal Failure (AMRF) Syndrome? AMRF Syndrome is caused by a change, or mutation, in both copies of the SCARB2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SCARB2 gene do not work correctly, it leads to the symptoms described above. |
Acute Infantile Liver Failure
|
TRMU (NM_018006.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Yemenite |
1 in 34 |
1 in 551 |
94% |
|
Acute Infantile Liver Failure, TRMU-Related
|
TRMU (NM_018006.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Yemenite |
1 in 34 |
1 in 3301 |
99% |
|
Acute Infantile Liver Failure, TRMU-Related
|
TRMU (NM_ 018006.4) |
Sephardic Jewish - Yemenite |
1 in 34 |
1 in 551 |
94% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Acute Infantile Liver Failure, TRMU-Related?
Acute Infantile Liver Failure, TRMU-Related is an autosomal recessive disorder that causes temporary life-threatening liver failure in infants. Signs and symptoms show up shortly after birth. Babies with this condition have problems with feeding, vomiting, irritability, jaundice, lethargy, a distended abdomen, and abnormal laboratory results showing acute liver failure. Although the condition can be fatal, with proper medical treatment most infants survive the acute episode of liver failure. Children who survive usually do not have any further episodes of liver failure and have normal growth and development.
What causes Acute Infantile Liver Failure, TRMU-Related?
Acute Infantile Liver Failure, TRMU-Related is caused by a gene change, or mutation, in both copies of the TRMU gene pair. These mutations cause the genes to not work properly or not work at all. If both copies of the TRMU gene pair do not work correctly, it leads to the symptoms described above. |
Acyl-CoA Oxidase I Deficiency
|
ACOX1 (NM_ 004035.6) |
General population |
<1 in 500 |
1 in 5545 |
91% |
|
What is Acyl-CoA Oxidase I Deficiency?
Acyl-CoA Oxidase I Deficiency is an autosomal recessive disorder that causes the buildup of certain fatty substances in the body. This causes damage to the brain that worsens with time. Babies with this condition typically have problems feeding and gaining weight, poor muscle tone, seizures, and a distinctive facial appearance. Some babies have extra fingers or toes, and some have an enlarged liver. Over time, the coating around the nerves (myelin) in the brain and body break down. This leads to loss of milestones and skills starting around the age of two years and intellectual and physical disabilities that worsen over time. Hearing and vision loss may also occur. Lifespan is shortened and many children with Acyl-CoA Oxidase I Deficiency do not survive past childhood. Currently there is no cure for this condition.
What causes Acyl-CoA Oxidase I Deficiency?
Acyl-CoA Oxidase I Deficiency is caused by a gene change, or mutation, in both copies of the ACOX1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Acyl-CoA Oxidase I Deficiency
|
ACOX1 (NM_004035.6) |
General population |
<1 in 500 |
1 in 5545 |
91% |
|
|
Acyl-CoA Oxidase I Deficiency
|
ACOX1 (NM_004035.6) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Adenosine Deaminase Deficiency
|
ADA (NM_000022.2) |
General population |
1 in 337 |
1 in 6721 |
>95% |
|
|
Adrenal Hypoplasia Congenita, X-Linked
|
NR0B1 (NM_000475.4) |
General population |
1 in 41250 |
1 in 4124901 |
99% |
|
What is Adrenal Hypoplasia Congenita, X-Linked? Adrenal Hypoplasia Congenita (AHC), X-Linked is an inherited disorder that affects mainly males and causes decreased production of certain hormones that come from the adrenal glands (the organs on top of the kidneys). Symptoms can vary from person to person. Affected males may be born with undescended testicles and small penis caused by lowered amounts of sex hormones and, unless treated, they may not go through normal puberty. Most males with AHC, X-Linked are infertile even with treatment. Other symptoms start in infancy or childhood and include poor feeding, vomiting, low blood sugar (hypoglycemia) and dehydration which, if left untreated, can be life-threatening. Currently there is no cure for this disorder; however, treatment includes hormones replacement therapy which can lessen or prevent some of the symptoms. Some affected males don't have symptoms until early adulthood. What causes Adrenal Hypoplasia Congenita, X-Linked? AHC, X-Linked is caused by a change, or mutation, the NR0B1 gene. This mutation causes the gene to not work properly or not work at all. The function of the NR0B1 gene is to help make sex hormones and other adrenal hormones. When this gene does not work correctly in males, it leads to the symptoms described above. |
Adrenoleukodystrophy, X-Linked
|
ABCD1 (NM_000033.3) |
General population |
1 in 10500 |
1 in 70000 |
85% |
|
Sephardic Jewish |
1 in 10500 |
1 in 210000 |
>95% |
|
Adrenoleukodystrophy, X-Linked
|
ABCD1 (NM_ 000033.3) |
General population |
<1 in 500 |
1 in 3328 |
85% |
|
Sephardic Jewish |
<1 in 500 |
1 in 9981 |
>95% |
What is Adrenoleukodystrophy, X-Linked?
Adrenoleukodystrophy (ALD), X-Linked is an X-linked inherited disorder found most often in boys that mainly affects the nervous system and the adrenal glands, the small organs located on top of each kidney. In this disorder, the fatty covering (called myelin) that protects the nerves in the brain and spinal cord starts to break down. This causes problems when the nerves send information to the brain. In addition, damage to the outer layer of the adrenal glands causes a lack of certain hormones. Lower amounts of these hormones may cause weakness, weight loss, skin changes, vomiting, and coma. It is more common for boys to be affected than girls. In some cases, individuals with Adrenoleukodystrophy, X-Linked have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
There are three different types of ALD, X-Linked: a childhood cerebral form, an adrenomyeloneuropathy (AMN) type, and a form called Addison disease.
Childhood Cerebral Form: Children with this type of ALD have learning and behavior problems that usually begin between the age of 4 and 10 years. Other symptoms include vision problems, difficulty swallowing, and poor coordination, all of which worsen over time. In addition, the adrenal glands start working improperly, which can cause vomiting, weakness, or coma. This type of ALD can progress rapidly and lifespan is shortened.
AMN Type: People with this type of ALD develop progressive stiffness and weakness in their legs, urinary and reproductive tract problems, and problems with behavior and thinking starting in early adulthood or middle age. Most people with this type of ALD have adrenal glands that work improperly leading to vomiting, weakness, or coma. In some severely affected individuals, damage to the brain and nervous system leads to early death.
Addison disease: The first symptoms of Addison disease are vomiting and weakness or coma caused by improperly working adrenal glands. Symptoms can begin anytime between childhood and adulthood. By middle age, most people have additional symptoms of ALD.
Although most female carriers have no symptoms, some carriers may develop mild symptoms of ALD, X-Linked.
What causes Adrenoleukodystrophy, X-Linked?
Adrenoleukodystrophy (ALD), X-Linked is caused by a change, or mutation, in the ABCD1 gene. This mutation causes the gene to not work properly or not work at all. People with ALD, X-Linked cannot break down certain fats called very long chain fatty acids (VLCFAs). These fats build up in the body and can damage the adrenal glands and fatty covering around the nerves and brain and leads to the signs and symptoms of ALD, X-Linked. |
Adrenoleukodystrophy, X-Linked
|
ABCD1 (NM_000033.3) |
General population |
1 in 10500 |
1 in 1049901 |
99% |
|
Sephardic Jewish |
1 in 10500 |
1 in 1049901 |
99% |
|
Agammaglobulinemia, X-Linked
|
BTK (NM_000061.2) |
General population |
1 in 250000 |
1 in 24999901 |
99% |
|
What is Agammaglobulinemia, X-Linked? Agammaglobulinemia, X-Linked (also known as XLA) is an inherited disorder of the immune system that affects mainly males. Males with Agammaglobulinemia, X-Linked develop repeated bacterial infections because their bodies don't make enough B cells, the immune cells that make antibodies to fight infections. Signs and symptoms in affected males often begin in infancy and include frequent bacterial infections that may occur in the lungs, ears, eyes, sinuses and digestive tract, or other parts of the body and can sometimes cause life-threatening problems. Currently there is no cure for this condition. However, there are preventive treatments available to replace the missing antibodies which can help prevent infections. Rarely, mutations in the same gene cause a related disorder called Isolated Growth Hormone Deficiency, Type III. Children with this condition have slow growth, short height, and immune system problems similar to those seen in Agammaglobulinemia, X-Linked. In some cases, affected individuals have been treated with or participated in clinical trials using stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Agammaglobulinemia, X-Linked? Agammaglobulinemia, X-Linked is caused by a change, or mutation, in the BTK gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly it leads to the symptoms described above. |
Aicardi-Goutières Syndrome
|
SAMHD1 (NM_015474.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Aicardi-Goutières Syndrome
|
SAMHD1 (NM_ 015474.3) |
General population |
< 1 in 500 |
1 in 7130 |
93% |
|
What is Aicardi-Goutières Syndrome?
Aicardi-Goutières Syndrome is an autosomal recessive disorder that affects the brain, immune system, and the skin. Symptoms often first appear in infancy and include severe irritability, poor feeding, vomiting, fever, and seizures. Episodes of brain inflammation (encephalopathy) cause slowed brain growth and small head size (microcephaly), delayed development, loss of skills, and inability to walk. Most children with Aicardi-Goutières Syndrome have severe intellectual disability, muscle stiffness (spasticity), involuntary muscle spasms called dystonia, and abnormal eye movements. They may also have painful or itchy skin patches called chilblains on their fingers, toes and ears. Lifespan is shortened. Children with this condition often do not survive past childhood, although people with milder symptoms may live into adulthood. Currently there is no cure or specific treatment for this condition.
What causes Aicardi-Goutières Syndrome?
Aicardi-Goutières Syndrome is caused by a gene change, or mutation, in the SAMHD1 gene. These mutations cause the gene to not work properly or not work at all. When both copies of the SAMHD1 gene do not work correctly, an abnormal immune and inflammatory response in the brain and skin occurs and leads to the symptoms described above. |
Aicardi-Goutières Syndrome, RNASEH2A-Related
|
RNASEH2A (NM_006397.2) |
General population |
1 in 224 |
1 in 22301 |
99% |
|
What is Aicardi-Goutieres syndrome, RNASEH2A-Related? Aicardi-Goutieres Syndrome, RNASEH2A-Related is an inherited disorder that affects the brain, immune system, and skin. Symptoms often first appear in infancy and include severe irritability, poor feeding, vomiting, fever, and seizures. Episodes of brain inflammation (encephalopathy) cause slowed brain growth and small head size (microcephaly), delayed development, loss of skills, and inability to walk. Most children with Aicardi-Goutieres Syndrome, RNASEH2A-Related have severe intellectual disability, muscle stiffness (spasticity), involuntary muscle spasms called dystonia, and abnormal eye movements. They may also have painful or itchy skin patches called chilblains on their fingers, toes and ears. Children with this condition often do not survive past childhood, although people with milder symptoms may live into adulthood. Currently there is no cure or specific treatment for this condition. What causes Aicardi-Goutieres syndrome, RNASEH2A-Related? Aicardi-Goutieres Syndrome, RNASEH2A-Related is caused by gene changes, or mutations, in both copies of the RNASEH2A gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of the RNASEH2A gene do not work correctly, an abnormal immune and inflammatory response in the brain and skin occurs and leads to the symptoms described above. |
Aicardi-Goutières Syndrome, RNASEH2B-Related
|
RNASEH2B (NM_024570.3) |
General population |
1 in 37 |
1 in 3601 |
99% |
|
What is Aicardi-Goutieres syndrome, RNASEH2B-Related? Aicardi-Goutieres Syndrome, RNASEH2B-Related is an inherited disorder that affects the brain, immune system, and skin. Symptoms often first appear in infancy and include severe irritability, poor feeding, vomiting, fever, and seizures. Episodes of brain inflammation (encephalopathy) cause slowed brain growth and small head size (microcephaly), delayed development, loss of skills, and inability to walk. Some children with Aicardi-Goutieres Syndrome, RNASEH2B-Related have severe intellectual disability, muscle stiffness (spasticity), involuntary muscle spasms called dystonia, and abnormal eye movements. They may also have painful or itchy skin patches called chilblains on their fingers, toes and ears. Some children with this condition do not survive past childhood, although people with milder symptoms may have only mild intellectual disability and may live into adulthood. Currently there is no cure or specific treatment for this condition. What causes Aicardi-Goutieres syndrome, RNASEH2B-Related? Aicardi-Goutieres Syndrome, RNASEH2B-Related is caused by gene changes, or mutations, in the RNASEH2B gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the RNASEH2B gene do not work correctly, an abnormal immune and inflammatory response in the brain and skin occurs and leads to the symptoms described above. |
Aicardi-Goutières Syndrome, RNASEH2C-Related
|
RNASEH2C (NM_032193.3) |
General population |
1 in 65 |
1 in 6401 |
99% |
|
What is Aicardi-Goutieres syndrome, RNASEH2C-Related? Aicardi-Goutieres syndrome, RNASEH2C-Related is an inherited disorder that affects the brain, immune system, and skin. Symptoms often first appear in infancy and include severe irritability, poor feeding, vomiting, fever, and seizures. Episodes of brain inflammation (encephalopathy) cause slowed brain growth and small head size (microcephaly), delayed development, loss of skills, and inability to walk. Most children with Aicardi-Goutieres syndrome, RNASEH2C-Related have severe intellectual disability, muscle stiffness (spasticity), involuntary muscle spasms called dystonia, and abnormal eye movements. They may also have painful or itchy skin patches called chilblains on their fingers, toes and ears. Children with this condition often do not survive past childhood, although people with milder symptoms may live into adulthood. Currently there is no cure or specific treatment for this condition. What causes Aicardi-Goutieres syndrome, RNASEH2C-Related? Aicardi-Goutieres syndrome, RNASEH2C-Related is caused by gene changes, or mutations, in both copies of the RNASEH2C gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of the RNASEH2C gene do not work correctly, an abnormal immune and inflammatory response in the brain and skin occurs and leads to the symptoms described above. |
Aicardi-Goutières Syndrome, SAMHD1-Related
|
SAMHD1 (NM_015474.3) |
General population |
< 1 in 500 |
1 in 7130 |
93% |
|
|
Aicardi-Goutières Syndrome, Trex1-Related
|
TREX1 (NM_033629.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Alkaptonuria
|
HGD (NM_000187.3) |
General population |
1 in 250 |
1 in 24900 |
99% |
|
|
Alpha-1 Antitrypsin Deficiency
|
SERPINA1 (NM_000295.4) |
General population |
1 in 38 |
1 in 3701 |
99% |
|
Northern European Caucasian |
1 in 15 |
1 in 1401 |
99% |
Ashkenazi Jewish |
1 in 24 |
1 in 2301 |
99% |
What is Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin Deficiency (AATD) is an inherited disorder that causes progressive lung and liver damage. Initial symptoms usually start in early-to-mid adulthood and include wheezing and trouble breathing during activity, increased infections, and weight loss. The lung damage worsens over time leading to chronic obstructive pulmonary disease (COPD) which includes emphysema. Cigarette smoking results in earlier and worse lung disease. Some affected individuals have liver disease, which may start in childhood in a small number of cases and not until adulthood in others. About 10% of affected children have liver disease that causes jaundice (yellowing of the skin and whites of the eyes) and needs medical treatment. About 15% of affected adults have liver disease that includes progressive cirrhosis and fibrosis (scarring of liver tissue) which can cause worsening liver function over time. Alpha-1-Antitrypsin Deficiency is also associated with an increased risk for liver cancer. Careful medical care is needed and regular treatment with infusions of alpha-1-antitrypsin, the missing enzyme in this disorder, can help prevent or lessen symptoms. What causes Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin Deficiency is caused by a change, or mutation, in both copies of the SERPINA1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SERPINA1 gene do not work correctly, it leads to the symptoms described above. |
|
MAN2B1 (NM_ 000528.3) |
Caucasian |
1 in 485 |
1 in 8068 |
94% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Alpha-Mannosidosis?
Alpha-Mannosidosis is an autosomal recessive disorder that causes toxic buildup of certain types of sugars, called oligosaccharides, in the body. There are mild and severe forms of Alpha-Mannosidosis with signs and symptoms typically beginning in infancy or later in childhood. In rare cases, symptoms may not begin until adulthood. Many parts of the body are affected leading to distinctive facial features, intellectual disability, developmental delays, bone abnormalities, movement problems, muscle weakness, joint problems, frequent infections, psychiatric problems, and hearing loss. The condition worsens with time. People with Alpha-Mannosidosis often require a wheelchair. Death may occur in childhood; however life-span may be near normal in individuals with a milder form of the condition. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Alpha-Mannosidosis?
Alpha-Mannosidosis is caused by a change, or mutation, in both copies of the MAN2B1 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the MAN2B1 genes is to create an enzyme that breaks down certain sugars and clears them from the body. When both copies of this gene pair do not work properly, it causes buildup of specific sugars in the body causing cell damage in many organs. This leads to the symptoms described above. |
Alpha-Mannosidosis
|
MAN2B1 (NM_000528.3) |
Caucasian |
1 in 485 |
1 in 8068 |
94% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Alpha-Mannosidosis
|
MAN2B1 (NM_000528.3) |
Caucasian |
1 in 485 |
1 in 48401 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Alpha-Thalassemia
|
HBA1/HBA2 (NM_000558.4; NM_000517.4) |
African American |
1 in 30 |
1 in 2901 |
99% |
|
Asian |
1 in 20 |
1 in 1901 |
99% |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
General population |
1 in 25 |
1 in 2401 |
99% |
|
|
HBA1/HBA2 (NM_000558.5; NM_000517.6) |
African American |
1 in 30 |
1 in 291 |
90% |
|
Asian |
1 in 20 |
1 in 191 |
90% |
Caucasian |
1 in 500 |
1 in 4991 |
90% |
General population |
1 in 25 |
1 in 241 |
90% |
What is Alpha-Thalassemia?
Alpha-Thalassemia refers to a group of autosomal recessive inherited blood disorders that result in a reduction in the amount of hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body. A person with one of the Alpha-Thalassemia diseases has lifelong anemia. Mild anemia can lead to tiredness, irritability, dizziness, lightheadedness and a rapid heartbeat. Severe anemia can be life threatening and may require routine blood transfusions. The most severe form is usually lethal during pregnancy or shortly after birth, unless treatment is started during pregnancy. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Carriers of Alpha-Thalassemia can sometimes have mild anemia.
What causes Alpha-Thalassemia?
Hemoglobin is made of both alpha globin and beta globin proteins. There are four HBA genes (also called alpha globin genes) that are responsible for making alpha globin. Alpha-Thalassemia occurs when three or more of these four HBA genes are missing or changed, or when a person has changes, or mutations, called Constant Spring mutations, in two of the four genes. The exact type of Alpha-Thalassemia a person has depends on how many of the HBA (alpha globin) genes are not working. Some common types of Alpha-Thalassemia are:
Hemoglobin H Disease: caused by three missing or changed alpha globin genes. A person who has three missing or changed alpha globin genes has Hemoglobin H Disease. Hemoglobin H Disease can be mild or severe. People with severe disease may have chronic anemia, liver disease, and bone changes. Some people with Hemoglobin H Disease require frequent blood transfusions and other treatments.
Hemoglobin H-Constant Spring Disease: caused by two missing alpha globin genes and one Constant Spring mutation. A person with these gene findings has Hemoglobin H-Constant Spring Disease. This condition is usually more severe than Hemoglobin H Disease. A person with this condition typically has chronic anemia, is more likely to need blood transfusions, has more frequent viral infections, and may have an enlarged spleen.
Homozygous Constant Spring Disease: caused by two Constant Spring mutations. A person with Homozygous Constant Spring Disease has mild to severe anemia and symptoms similar to those seen in Hemoglobin H Disease described above.
Alpha-Thalassemia Major, also known as Hemoglobin Bart’s Disease: caused by four missing or changed alpha globin genes. This results in very severe anemia. Affected babies develop symptoms before birth and, unless treatment is started during pregnancy these babies are usually either stillborn or do not survive the newborn period. Mothers pregnant with a fetus with Alpha-Thalassemia Major can develop health problems during pregnancy. |
Alpha-Thalassemia
|
HBA1/HBA2 (NM_000558.4; NM_000517.4) |
African American |
1 in 30 |
1 in 291 |
90% |
|
Asian |
1 in 20 |
1 in 191 |
90% |
Caucasian |
<1 in 500 |
1 in 4991 |
90% |
General population |
1 in 25 |
1 in 241 |
90% |
|
Alpha-Thalassemia Intellectual Disability Syndrome
|
ATRX (NM_000489.4) |
General population |
< 1 in 750000 |
1 in 74999901 |
99% |
|
|
Alpha-Thalassemia Intellectual Disability Syndrome
|
ATRX (NM_ 000489.4) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
What is Alpha-Thalassemia Intellectual Disability Syndrome?
Alpha-Thalassemia Intellectual Disability (ATRX) Syndrome is a rare X-linked disorder that affects mainly boys. It causes significant intellectual disability and delays in all areas of development. Many boys with this condition speak few, if any, words and some are unable to walk on their own. Common features of this condition include a smaller than average head size, short stature, clubbed feet, abnormalities of the genitals, and muscle weakness (hypotonia). About 85% of boys with Alpha-Thalassemia Intellectual Disability Syndrome also have a blood disorder called Alpha-Thalassemia, a type of anemia. Although some children with this condition are less severely affected than others, most need lifelong medical treatment.
Female carriers for Alpha-Thalassemia Intellectual Disability Syndrome typically do not have any symptoms. However, there are rare female carriers who have mild anemia or intellectual disability.
What causes Alpha-Thalassemia Intellectual Disability Syndrome?
Alpha-Thalassemia Intellectual Disability Syndrome is caused by a change, or mutation, in the ATRX gene. This mutation causes the gene to not work properly or not work at all, which results in the symptoms described above. |
Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked
|
ATRX (NM_000489.4) |
General population |
< 1 in 750000 |
1 in 1000000 |
95% |
|
|
Alport Syndrome, COL4A3-Related
|
COL4A3 (NM_000091.4) |
Ashkenazi Jewish |
1 in 192 |
1 in 3821 |
>95% |
|
Caucasian |
1 in 284 |
1 in 5661 |
95% |
General population |
1 in 354 |
1 in 7061 |
>95% |
|
Alport Syndrome, COL4A3-Related
|
COL4A3 (NM_ 000091.4) |
Ashkenazi Jewish |
1 in 192 |
1 in 3821 |
>95% |
|
Caucasian |
1 in 284 |
1 in 5661 |
95% |
General population |
1 in 354 |
1 in 7061 |
>95% |
What is Alport Syndrome, COL4A3-Related?
Autosomal recessive Alport Syndrome, COL4A3-Related is an inherited disorder that affects the kidneys, eyes, and ears. This condition causes progressive loss of kidney function which leads to blood and protein in the urine. Over time, the kidneys no longer work properly and dialysis or kidney transplant is often needed, typically in early to late adulthood. Sensorineural hearing loss usually occurs by late childhood or early teens, but hearing aids are helpful. Eye problems include increased risk for cataracts, abnormally shaped lenses, and wearing away of the cornea. People with Alport syndrome often need glasses, but it is rare for them to have vision loss.
Autosomal dominant Alport Syndrome, COL4A3-Related is a less common form of this disorder caused by a mutation in the same gene. People with the autosomal dominant form have less severe symptoms that progress more slowly. Kidney disease and hearing loss may not occur until late adulthood and eye problems are rare.
What causes Alport Syndrome, COL4A3-Related?
Autosomal recessive Alport Syndrome, COL4A3-Related is caused by a gene change, or mutation, in both copies of the COL4A3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms of autosomal recessive Alport Syndrome, COL4A3-Related described above.
Some cases of Alport Syndrome, COL4A3-Related are inherited in an autosomal dominant manner. This means that a person who has a mutation in just one copy of the COL4A3 gene is affected with Alport Syndrome and has symptoms of Alport Syndrome. |
Alport Syndrome, COL4A3-Related
|
COL4A3 (NM_000091.4) |
Ashkenazi Jewish |
1 in 189 |
1 in 18801 |
99% |
|
Caucasian |
1 in 284 |
1 in 28301 |
99% |
General population |
1 in 323 |
1 in 32201 |
99% |
|
Alport Syndrome, COL4A4-Related
|
COL4A4 (NM_000092.4) |
General population |
1 in 353 |
1 in 35201 |
99% |
|
|
Alport Syndrome, COL4A4-Related
|
COL4A4 (NM_000092.4) |
General population |
1 in 353 |
1 in 7041 |
>95% |
|
|
Alport Syndrome, COL4A4-Related
|
COL4A4 (NM_ 000092.4) |
General population |
1 in 353 |
1 in 7041 |
>95% |
|
What is Alport Syndrome, COL4A4-Related?
Autosomal recessive Alport Syndrome, COL4A4-Related is an inherited disorder that affects the kidneys, eyes, and ears. This condition causes progressive loss of kidney function which leads to blood and protein in the urine. Over time, the kidneys can no longer work properly and dialysis or kidney transplant is often needed, typically in early to late adulthood. Sensorineural hearing loss usually occurs by late childhood or early teens, but hearing aids are helpful. Eye problems include increased risk for cataracts, abnormally shaped lenses, and wearing away of the cornea. People with Alport Syndrome often need glasses, but it is rare for them to have vision loss.
Autosomal dominant Alport Syndrome, COL4A4-Related is a less common form of this disorder caused by a mutation in the same gene. People with the autosomal dominant form have less severe symptoms that progress more slowly. Kidney disease and hearing loss may not occur until late adulthood and eye problems are rare.
What causes Alport Syndrome, COL4A4-Related?
Autosomal recessive Alport Syndrome, COL4A4-Related is caused by a gene change, or mutation, in both copies of the COL4A4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms of autosomal recessive Alport Syndrome, COL4A4-Related described above.
Some cases of Alport Syndrome, COL4A4-Related are inherited in an autosomal dominant manner. This means that a person who has a mutation in just one copy of the COL4A4 gene is affected with Alport Syndrome and has symptoms of autosomal dominant Alport Syndrome. |
Alport Syndrome, COL4A5-Related, X-Linked
|
COL4A5 (NM_000495.3) |
General population |
1 in 47000 |
1 in 390000 |
88% |
|
|
Alport Syndrome, X-Linked
|
COL4A5 (NM_000495.4) |
General population |
1 in 47000 |
1 in 4699901 |
99% |
|
|
Alport Syndrome, X-Linked
|
COL4A5 (NM_000495.3) |
General population |
< 1 in 500 |
1 in 4159 |
88% |
|
What is Alport Syndrome, X-Linked?
Alport Syndrome, X-Linked is an X-linked inherited condition that affects the kidneys, ears, and eyes. Alport Syndrome, X-Linked causes progressive loss of kidney function which leads to blood and protein in the urine. Over time, the kidneys can no longer work properly and dialysis or kidney transplant is often needed, typically in early to late adulthood. Sensorineural hearing loss usually occurs by late childhood or early teens, but hearing aids are typically effective. Eye problems include increased risk for cataracts, abnormally shaped lenses, and wearing away of the cornea. People with Alport Syndrome, X-Linked often need glasses, but it is rare for them to have vision loss. Alport Syndrome, X-Linked is more common in boys than girls.
What causes Alport Syndrome, X-Linked?
Alport Syndrome, X-Linked is caused by a change, or mutation, in the COL4A5 gene. This mutation causes the gene to not work properly or not work at all. The normal function of the COL4A5 gene is to help make Type IV collagen. Type IV collagen is needed in the kidney, inner ear, and eye in order for these organs to work properly. When the COL4A5 gene is not working correctly in a male, it leads to the symptoms described above. Some female carriers may have clinical symptoms associated with Alport Syndrome, X-Linked such as blood in the urine, which is common in carriers, or kidney disease or hearing loss, which are less common. |
|
ALMS1 (NM_ 015120.4) |
General population |
1 in 500 |
1 in 9981 |
>95% |
|
What is Alstrom Syndrome?
Alstrom Syndrome is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms vary from person to person and usually begin in infancy or childhood. Children with Alstrom Syndrome typically have vision and hearing loss that worsens with time. A type of heart disease called dilated cardiomyopathy develops in some. Diabetes, obesity, breathing problems, liver disease, kidney disease, and short stature are common. Intelligence is not affected. Adults may have progressive liver and kidney disease that can lead to failure of these organs. Depending on the severity of symptoms, lifespan may be shortened. Currently there is no cure for Alstrom Syndrome although treatment is available for some of the medical problems that occur with this disorder.
What causes Alstrom Syndrome?
Alstrom Syndrome is caused by a gene change, or mutation, in both copies of the ALMS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Alstrom Syndrome
|
ALMS1 (NM_015120.4) |
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
|
Alstrom Syndrome
|
ALMS1 (NM_015120.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Amish Infantile Epilepsy Syndrome
|
ST3GAL5 (NM_003896.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Amish Infantile Epilepsy Syndrome? Amish Infantile Epilepsy Syndrome (also known as GM3 Synthase Deficiency or Salt and Pepper Developmental Regression Syndrome) is an inherited disorder that affects the brain. Symptoms typically begin in early infancy and include seizures that worsen over time, feeding problems, vomiting, and poor growth. Most affected children have developmental delays and severe intellectual disability and some have a movement disorder that includes jerking and twisting of the arms. Dark and light spots on the skin are common and vision and hearing loss occur over time. Life span is usually shortened. Currently there is no cure for this disorder and treatment is based on symptoms. What causes Amish Infantile Epilepsy Syndrome? Amish Infantile Epilepsy Syndrome is caused by changes, or mutations, in both copies of the ST3GAL5 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ST3GAL5 gene are not working correctly it leads to the symptoms described above. |
Andermann Syndrome
|
SLC12A6 (NM_133647.1) |
French Canadian |
1 in 23 |
1 in 2201 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
SLC12A6 (NM_ 133647.1) |
French Canadian |
1 in 23 |
1 in 441 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Andermann Syndrome?
Andermann Syndrome, also known as Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum, is an autosomal recessive disorder that affects the brain and nervous system. Symptoms usually begin shortly after birth and include poor muscle tone and weakness with loss of feeling in the arms and legs. Underdevelopment of the corpus callosum (the part of the brain that connects the left and right sides) is common and reflexes are either absent or abnormal. Intellectual disability ranges from mild to severe and some children have seizures. Delays in learning to walk are common and teenagers often lose the ability to walk and may need the use of a wheelchair. Teens may have episodes of depression, anxiety, or hallucinations. People with Andermann Syndrome often live into adulthood but lifespan is usually decreased. Currently there is no cure or specific treatment for this condition.
What causes Andermann Syndrome?
Andermann Syndrome is caused by a gene change, or mutation, in both copies of the SLC12A6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Andermann Syndrome (Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum)
|
SLC12A6 (NM_133647.1) |
French Canadian |
1 in 23 |
1 in 441 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Androgen Insensitivity Syndrome
|
AR (NM_000044.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Arginine:Glycine Amidinotransferase Deficiency (Agat Deficiency)
|
GATM (NM_001482.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
ARG1 (NM_000045.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
What is Argininemia? Argininemia (also known as Arginase Deficiency) is an inherited disorder in which the body is unable to break down an amino acid called arginine, a part of protein found in food. This causes arginine and ammonia to build up in the body. Too much ammonia in the body and blood causes damage to the nervous system and organs. Symptoms of Argininemia typically start around age 3 with stiffness of the muscles (spasticity) in the legs, slow growth, and delays in development. If not treated early, affected children typically develop seizures, tremors, coordination problems, and severe intellectual disability. Some children with this condition have a milder form in which symptoms begin in later in life. If treated early with a medical diet low in arginine and sometimes specific medications, many children with this disorder live healthy lives, although some still have learning disabilities and spasticity. Without treatment, life threatening problems such as difficulty breathing, swelling of the brain, and seizures may develop. What causes Argininemia? Argininemia is caused by changes, or mutations, in both copies of the ARG1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ARG1 gene are not working correctly, arginine and ammonia build up in the body and cause the symptoms described above. |
Argininosuccinate Aciduria
|
ASL (NM_000048.3) |
General population |
1 in 274 |
1 in 5461 |
>95% |
|
|
Argininosuccinate Lyase Deficiency
|
ASL (NM_000048.3) |
General population |
1 in 133 |
1 in 13201 |
99% |
|
|
Argininosuccinate Lyase Deficiency
|
ASL (NM_000048.3) |
General population |
1 in 274 |
1 in 5461 |
>95% |
|
What is Argininosuccinate Lyase Deficiency?
Argininosuccinate Lyase Deficiency is an autosomal recessive disorder in which the body is unable to remove ammonia. Too much ammonia in the body and blood causes damage to the body’s organs.
Symptoms of Argininosuccinate Lyase Deficiency most often begin in the first few days after birth. Some children with this condition may have a milder form in which symptoms begin in late infancy or early childhood. Newborns with symptoms may have vomiting, lethargy, irritability, or poor appetite. If untreated, symptoms may worsen to include seizures, difficulty staying warm, muscle weakness, breathing problems, swelling of the brain, coma, or death within the first few weeks of life. For those with late infancy or childhood onset disease, symptoms may include intellectual disability, behavior problems, hyperactivity, enlarged liver or liver disease, poor growth, dry and brittle hair, small head size, avoidance of meat or other high protein foods, and/or episodes of high ammonia in the blood. Without treatment, life threatening problems such as difficulty breathing, swelling of the brain, and seizures may develop.
What causes Argininosuccinate Lyase Deficiency?
Argininosuccinate Lyase Deficiency is caused by changes, or mutations, in both copies of the ASL gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the ASL gene is necessary to help remove ammonia from the body. When both copies of the ASL gene are not working correctly, ammonia builds up in the body and leads to the symptoms described above. |
|
CYP19A1 (NM_ 031226.2) |
General population |
< 1 in 500 |
1 in 2627 |
81% |
|
What is Aromatase Deficiency?
Aromatase Deficiency is an autosomal recessive disorder that leads to decreased female sex hormones and increased male sex hormones in the body. Aromatase is an enzyme which converts the male sex hormone androgen into the female sex hormone estrogen, which is important for female development before birth and during puberty. Estrogen is also important for bone growth and maintaining normal blood sugar levels in the body.
Females with Aromatase Deficiency may have external genitals that are not clearly female or male, along with normal internal female organs. Without treatment, breast growth and menstrual cycles typically do not occur. Females may also experience acne and excessive body hair growth. In most cases, males with Aromatase Deficiency are born with normal external male genitals. However, some males will have decreased sex drive, abnormal sperm production, or small undescended testes. Both females and males with Aromatase Deficiency may have abnormal bone growth resulting in tall stature, thinning of the bones with increased fractures (bone breaks), and delayed bone age. People with Aromatase Deficiency may have abnormally high blood sugar levels, excess weight gain, and a fatty liver. Estrogen replacement therapy can help to reverse some symptoms of this condition.
Pregnant women carrying a child with Aromatase Deficiency may temporarily have symptoms of this condition starting as early as 12 weeks gestation. This is caused by excess male sex hormones in the placenta. These symptoms may include a deepened voice, acne, an enlarged clitoris, or excess hair growth and typically go away following delivery of the affected child.
What causes Aromatase Deficiency?
Aromatase Deficiency is caused by a gene change, or mutation, in both copies of the CYP19A1 gene pair. These mutations cause the genes to not work properly or not work at all. If both copies of the CYP19A1 gene do not work correctly, it leads to the symptoms described above. |
Aromatase Deficiency
|
CYP19A1 (NM_031226.2) |
General population |
< 1 in 500 |
1 in 2627 |
81% |
|
|
Aromatase Deficiency
|
CYP19A1 (NM_031226.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Arthrogryposis, Mental Retardation, and Seizures
|
SLC35A3 (NM_012243.2) |
Ashkenazi Jewish |
1 in 453 |
1 in 9041 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
PRPS1 (NM_002764.3) |
General population |
1 in 500000 |
1 in 49999901 |
99% |
|
What is Arts Syndrome? Arts Syndrome is a rare inherited condition that occurs mainly in boys and causes progressive hearing and vision loss along with nerve and muscle problems. The hearing loss is typically nerve-related (sensorineural) and progresses over time. Vision loss occurs over time as does loss of feeling and muscle control in the limbs (called peripheral neuropathy). Other symptoms may include weak muscle tone (hypotonia), problems with muscle coordination and walking (ataxia), other developmental delays, and some degree of intellectual disability. Repeated episodes of serious infection are common, especially in the respiratory system. Lifespan is often shortened and males with this condition may not live past childhood. Mutations in the same gene that causes Arts Syndrome, the PRPS1 gene, occasionally cause one of a number of related disorders that include Charcot-Marie-Tooth Disease, X-Linked (CMTX5), Non-syndromic Hearing Loss and Deafness (DFNX1), and Phosphoribosylpyrophosphate Synthetase Superactivity. Symptoms of CMTX5 typically start in late childhood and include progressive peripheral neuropathy leading to muscle weakness, problems walking, and loss of sensation. Nerve-related hearing and vision loss also occur over time. DFNX1 (also called DFN2) causes moderate to severe hearing loss in both ears starting at birth or early childhood and does not have any other symptoms. Phosphoribosylpyrophosphate Synthetase Superactivity causes a buildup of uric acid in the body which can lead to gout, kidney stones, and/or bladder stones starting in infancy, childhood, or early adulthood. Symptoms are variable and may also include hearing loss, poor muscle tone, ataxia, developmental delays, and, in some cases, mild intellectual disability. It is sometimes, but not always, possible to determine whether a specific mutation in the PRPS1 gene will cause Arts Syndrome, CMT5X, DFNX1 or Phosphoribosylpyrophophate Synthetase Superactivity. The information below is about Arts Syndrome. However, all four disorders are inherited in the same manner and have the same reproductive options. Currently there is no cure for any of these disorders and treatment is based on symptoms. Cochlear implants to improve hearing are helpful for some patients. What causes Arts Syndrome and related disorders? Arts Syndrome and related disorders are caused by a change, or mutation, in the PRPS1 gene. When the PRPS1 gene is not working properly it can lead to the symptoms of one of the conditions described above. |
Asparagine Synthetase Deficiency
|
ASNS (NM_001673.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Iranian |
1 in 80 |
1 in 1581 |
>95% |
|
Asparagine Synthetase Deficiency
|
ASNS (NM_001673.4) |
Sephardic Jewish - Iranian |
1 in 80 |
1 in 1581 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Asparagine Synthetase Deficiency?
Asparagine Synthetase Deficiency is an autosomal recessive disorder that affects the brain. Signs and symptoms usually begin in infancy and include small head size, severe developmental delay, abnormal brain development, poor muscle tone, and seizures. Affected children often have feeding problems and breathing problems. Death may occur in infancy or childhood. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Asparagine Synthetase Deficiency?
Asparagine Synthetase Deficiency is caused by a change, or mutation, in both copies of the ASNS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above.
|
Asparagine Synthetase Deficiency
|
ASNS (NM_133436.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Iranian |
1 in 80 |
1 in 7901 |
99% |
|
Aspartylglycosaminuria
|
AGA (NM_000027.3) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
Finnish |
1 in 36 |
1 in 3501 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Aspartylglycosaminuria
|
AGA (NM_000027.3) |
Caucasian |
<1 in 500 |
1 in 9981 |
>95% |
|
Finnish |
1 in 63 |
1 in 1241 |
>95% |
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
|
AGA (NM_ 000027.3) |
Caucasian |
<1 in 500 |
1 in 9981 |
>95% |
|
Finnish |
1 in 63 |
1 in 1241 |
>95% |
General population |
<1 in 500 |
1 in 9981 |
>95% |
What is Aspartylglycosaminuria?
Aspartylglycosaminuria is an autosomal recessive disorder in which the body is unable to breakdown certain types of proteins, called glycoasparagines, in the cells, leading to a toxic buildup in the body. People with Aspartylglycosaminuria typically have normal development in infancy but develop symptoms within the first few years of life. These symptoms can include speech delays, coarse facial features, recurrent respiratory infections, eye abnormalities, spine deformity, behavior problems, and intellectual disability. Symptoms worsen with age, including the loss of most learned speech by adulthood and declining intellectual abilities. Adults with Aspartylglycosaminuria may develop seizures, fragile bones, loose joints and skin, or movement problems. Lifespan is reduced with this condition with most people with Aspartylglycosaminuria living to their thirties or forties. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Aspartylglycosaminuria?
Aspartylglycosaminuria is caused by a gene change, or mutation, in both copies of the AGA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene are not working correctly, the body lacks an important enzyme which helps to break down specific proteins in the body. As a result, these proteins buildup and cause damage to the body’s cells, especially the nerve cells in the brain, and cause the symptoms described above. |
Ataxia with Vitamin E Deficiency
|
TTPA (NM_ 000370.3) |
Caucasian |
< 1 in 500 |
1 in 4991 |
90% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Ataxia with Vitamin E Deficiency?
Ataxia with Vitamin E Deficiency is an autosomal recessive disorder that affects the body’s ability to use vitamin E. When the body is unable to use vitamin E from the diet, damage can occur to the body’s cells, especially in the central nervous system (brain and spine). Lack of vitamin E can cause problems with speech and movement, loss of reflexes in the legs, and loss of sensation in the arms and legs. Signs and symptoms of Ataxia with Vitamin E Deficiency usually appear between the ages of 4 and 18 years. In rare cases, symptoms may begin before or after this typical age range. Most people with this condition will develop coordination problems that worsen with age. Some people with Ataxia with Vitamin E Deficiency develop vision loss (caused by the eye disorder known as retinitis pigmentosa), disease of the heart muscle (cardiomyopathy), or curvature of the spine. The number and severity of symptoms in Ataxia with Vitamin E Deficiency varies from person to person.
What causes Ataxia with Vitamin E Deficiency?
Ataxia with Vitamin E Deficiency is caused by a gene change, or mutation, in both copies of the TTPA gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of the TTPA gene are not functioning correctly, the body lacks a protein necessary for sending vitamin E obtained from the diet to cells and tissues throughout the body. Tissues that use vitamin E have a buildup of free radicals in their cells, leading to damage, especially to nerve cells in the brain and spinal cord. |
Ataxia with Vitamin E Deficiency
|
TTPA (NM_000370.3) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Ataxia with Vitamin E Deficiency
|
TTPA (NM_000370.3) |
Caucasian |
< 1 in 500 |
1 in 4991 |
90% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Ataxia-Telangiectasia
|
ATM (NM_000051.3) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
1 in 100 |
1 in 1101 |
91% |
Sephardic Jewish - Moroccan |
1 in 69 |
1 in 1361 |
>95% |
|
|
ATM (NM_000051.3) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Moroccan |
1 in 69 |
1 in 1361 |
>95% |
General population |
1 in 100 |
1 in 1101 |
91% |
What is Ataxia-Telangiectasia?
Ataxia-Telangiectasia is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms usually begin in the first year of life and include problems with movement and coordination (ataxia), slurred speech, and abnormal eye movements. The ataxia worsens over time and affected children usually require a wheelchair by the teen years. Groups of enlarged blood vessels called telangiectases develop on the skin and eyes. People with Ataxia-Telangiectasia have a weakened immune system, may have frequent sinus and lung infections, are at increased risk to develop cancer, especially leukemia and lymphoma, and are sensitive to the effects of radiation including X-rays. Lifespan is often shortened in this disorder. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Female carriers of Ataxia-Telangiectasia are at increased risk for developing breast cancer. Male and female carriers of Ataxia-Telangiectasia may be sensitive to the effects of radiation and may be at higher risk for developing other types of cancer as well. Carriers also may have a higher risk for heart disease.
What causes Ataxia-Telangiectasia?
Ataxia-Telangiectasia is caused by a change, or mutation, in both copies of the ATM gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ATM gene do not work correctly it leads to the health problems described above. |
Ataxia-Telangiectasia
|
ATM (NM_000051.3) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
1 in 100 |
1 in 9901 |
99% |
Sephardic Jewish - Moroccan |
1 in 81 |
1 in 8001 |
99% |
|
Ataxia-Telangiectasia-Like Disorder 1
|
MRE11 (NM_005591.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Ataxia-Telangiectasia-Like Disorder 1? Ataxia-Telangiectasia-Like Disorder 1 (ATLD1) is an inherited disorder that mainly affects the nerves, muscles, and eyes. Signs and symptoms usually begin in the first year of life and include problems with movement and coordination (ataxia), slurred speech (dysarthria), and abnormal eye movements (oculomotor apraxia). The ataxia can worsen over time and many affected adults need the use of a wheelchair. Affected individuals also appear to be more sensitive to the effects of radiation including X-ray. Rarely, mutations in the same gene can cause one of a different group of inherited disorders called the Nephronophthisis-Related Ciliopathies. This group of conditions - which includes Senior-Loken syndrome and Joubert syndrome - affect the kidney, eyes, and brain. The common symptom in this group of disorders is kidney disease that worsens with time, eventually causing kidney failure and the need for dialysis followed by transplantation. Some affected children have Joubert Syndrome, which includes the same kidney disease along with brain abnormalities, breathing problems, developmental delay, intellectual disability, seizures, and ataxia. Children with Senior-Loken Syndrome have similar kidney disease along with eye and vision problems. Currently there is no cure for any of these disorders and treatment is based on symptoms. The information below is about Ataxia-Telangiectasia-Like Disorder 1, the more common disorder. However, the inheritance pattern and reproductive options also apply to the Nephronophthisis-Related Ciliopathies. What causes Ataxia-Telangiectasia-Like Disorder 1? Ataxia-Telangiectasia-Like Disorder 1 is caused by a gene change, or mutation in both copies of the MRE11 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the MRE11 gene do not work correctly, it causes the symptoms described above. |
|
TF (NM_001063.4) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is atransferrinemia? Atransferrinemia is a rare inherited iron overload condition caused by a missing enzyme called transferrin. Without this enzyme, the red blood cells cannot absorb the iron they need so iron builds up in the tissues and organs of the body instead. Symptoms typically start in early childhood between the ages of 1-2 years. The lack of transferrin leads to a type of anemia (microcytic hypochromic anemia) that causes the red blood cells to be small, pale, and have less oxygen. Symptoms vary from person to person and can be mild to severe. Mild anemia can cause shortness of breath, tiredness, irritability, dizziness, lightheadedness, a rapid heartbeat, and delayed growth and development in children. Severe anemia, which often occurs with atransferrinemia, can be life-threatening if not treated. The iron buildup in the body tissues may cause damage to organs, which can result in scarring of the liver (cirrhosis), joint problems, underactive thyroid, or heart problems. Some people with this condition also have an increased number of infections. Treatment for this condition often involves periodic blood draws to remove the excess iron, followed by plasma infusions (which contain transferrin). A milder form of this condition is called hypotransferrinemia. This form may cause less severe organ damage and milder anemia and may or may not require plasma transfusions. What causes atransferrinemia? Atransferrinemia is caused by gene changes, or mutations, in both copies of the TF gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair are not working correctly it leads to the symptoms described above. |
Autism Spectrum, Epilepsy and Arthrogryposis
|
SLC35A3 (NM_012243.2) |
Ashkenazi Jewish |
1 in 453 |
1 in 45201 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Autism Spectrum, Epilepsy and Arthrogryposis
|
SLC35A3 (NM_ 012243.2) |
Ashkenazi Jewish |
1 in 453 |
1 in 9041 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Autism Spectrum, Epilepsy and Arthrogryposis?
Autism Spectrum, Epilepsy and Arthrogryposis is an inherited disorder that causes intellectual disability, autism, seizures, and abnormalities of the joints of the limbs. Arthrogryposis is the lack of normal range of motion in one or more joints. Affected children have involvement of most joints, especially those of the neck, fingers and toes. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Autism Spectrum, Epilepsy and Arthrogryposis?
Autism Spectrum, Epilepsy and Arthrogryposis is caused by a gene change, or mutation, in both copies of the SLC35A3 gene. These mutations cause the genes to not work properly or not work at all. When both copies of the SLC35A3 gene do not work correctly, it leads to the symptoms described above. |
Autoimmune Polyglandular Syndrome, Type 1
|
AIRE (NM_000383.2) |
Finnish |
1 in 79 |
1 in 1561 |
>95% |
|
Sardinian |
1 in 60 |
1 in 1181 |
95% |
Sephardic Jewish - Iranian |
1 in 27 |
1 in 521 |
>95% |
General population |
1 in 354 |
1 in 7061 |
>95% |
What is Autoimmune Polyglandular Syndrome, Type 1?
Autoimmune Polyglandular Syndrome, Type 1, also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, is an autosomal recessive disorder of the immune system in which the body attacks and damages its own tissues and organs. Signs and symptoms typically begin during childhood or adolescence. The three main areas of the body affected by this disorder include the skin, the parathyroid glands, and the adrenal glands. Mucocutaneous candidiasis, a fungal infection, affects the skin and inside of the mouth and nose. Hypoparathyroidism, caused by lack of hormones made by the parathyroid gland, leads to tingling of the lips, fingers, and toes; pain, cramping, and weakness of the muscles; and lack of energy. Addison disease, caused by lack of hormones from the adrenal glands, causes muscle weakness, loss of appetite, weight loss, low blood pressure, and bronzing of the skin. Some people with this condition have only two of the three of the main problems listed above. Some people also have other signs and symptoms that may include diabetes, thyroid problems, and digestive problems. Currently there is no cure for this condition. Treatment is available to reduce symptoms and may include hormone replacement therapy and other medications and supplements as indicated.
What causes Autoimmune Polyglandular Syndrome, Type 1?
Autoimmune Polyglandular Syndrome, Type 1 is caused by a gene change, or mutation, in both copies of the AIRE gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Autoimmune Polyglandular Syndrome, Type 1
|
AIRE (NM_000383.2) |
Finnish |
1 in 79 |
1 in 1561 |
>95% |
|
General population |
1 in 354 |
1 in 7061 |
>95% |
Sardinian |
1 in 60 |
1 in 1181 |
95% |
Sephardic Jewish - Iranian |
1 in 27 |
1 in 521 |
>95% |
|
Autoimmune Polyglandular Syndrome, Type 1
|
AIRE (NM_000383.3) |
Finnish |
1 in 79 |
1 in 7801 |
99% |
|
General population |
1 in 354 |
1 in 35301 |
99% |
Sardinian |
1 in 60 |
1 in 5901 |
99% |
Sephardic Jewish - Iranian |
1 in 27 |
1 in 2601 |
99% |
|
Autosomal Recessive Congenital Ichthyosis (Arci), Slc27A4-Related
|
SLC27A4 (NM_005094.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Autosomal Recessive Polycystic Kidney Disease
|
PKHD1 (NM_138694.3) |
Ashkenazi Jewish |
1 in 106 |
1 in 2101 |
>95% |
|
Caucasian |
1 in 100 |
1 in 1981 |
>95% |
General population |
1 in 144 |
1 in 2861 |
>95% |
South African Afrikaner |
1 in 52 |
1 in 1021 |
>95% |
|
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
|
SACS (NM_014363.5) |
Caucasian |
1 in 450 |
1 in 44901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
French Canadian - Charlevoix-Saguenay |
1 in 21 |
1 in 2001 |
99% |
|
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
|
SACS (NM_ 014363.5) |
Caucasian |
1 in 450 |
1 in 8981 |
>95% |
|
French Canadian - Charlevoix-Saguenay |
1 in 21 |
1 in 401 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay?
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay is an autosomal recessive disorder that affects the muscles and nervous system. Signs and symptoms usually begin in infancy or early childhood and worsen with age. Children first have coordination and balance problems with unsteady walking (ataxia), spasticity (muscle tightness), and muscle weakness and wasting (atrophy). Speech problems and abnormal eye movements (nystagmus) also occur. Other symptoms may include vision problems due to a buildup of tissue on the retina, misshapen fingers, toes, and feet, loss of sensation in the legs, and in some cases mitral valve prolapse (leaky valve in the heart). Intelligence is not affected. Most people with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay need the use of a wheelchair in adulthood. Currently there is no cure for this disorder but there are treatments that can help lessen or delay some of the symptoms.
What causes Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay?
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay is caused by a gene change, or mutation, in the both copies of the SACS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, Arl6-Related
|
ARL6 (NM_177976.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Bardet-Biedl Syndrome, BBS1-Related
|
BBS1 (NM_024649.4) |
Faroese |
1 in 30 |
1 in 2901 |
99% |
|
General population |
1 in 265 |
1 in 26401 |
99% |
|
Bardet-Biedl Syndrome, BBS1-Related
|
BBS1 (NM_024649.4) |
Faroese |
1 in 30 |
1 in 581 |
>95% |
|
General population |
1 in 392 |
1 in 7821 |
>95% |
|
Bardet-Biedl Syndrome, BBS1-Related
|
BBS1 (NM_ 024649.4) |
Faroese |
1 in 30 |
1 in 581 |
>95% |
|
General population |
1 in 392 |
1 in 7821 |
>95% |
What is Bardet-Biedl Syndrome, BBS1-Related?
Bardet-Biedl Syndrome, BBS1-Related is one of a group of autosomal recessive disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities. Eyesight problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children). Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition.
What causes Bardet-Biedl Syndrome, BBS1-Related?
Bardet-Biedl Syndrome, BBS1-Related is caused by a gene change, or mutation, in both copies of the BBS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, BBS10-Related
|
BBS10 (NM_ 024685.3) |
General population |
1 in 423 |
1 in 8441 |
>95% |
|
What is Bardet-Biedl Syndrome, BBS10-Related?
Bardet-Biedl Syndrome, BBS10-Related is one of a group of autosomal recessive disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities. Eyesight problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children). Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and, less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition.
What causes Bardet-Biedl Syndrome, BBS10-Related?
Bardet-Biedl Syndrome, BBS10-Related is caused by a gene change, or mutation, in both copies of the BBS10 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, BBS10-Related
|
BBS10 (NM_024685.3) |
General population |
1 in 447 |
1 in 44601 |
99% |
|
|
Bardet-Biedl Syndrome, BBS10-Related
|
BBS10 (NM_024685.3) |
General population |
1 in 423 |
1 in 8441 |
>95% |
|
|
Bardet-Biedl Syndrome, BBS12-Related
|
BBS12 (NM_1 52618.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Bardet-Biedl Syndrome, BBS12-Related
|
BBS12 (NM_1 52618.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Bardet-Biedl Syndrome, BBS12-Related?
Bardet-Biedl Syndrome, BBS12-Related is one of a group of autosomal recessive disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities. Eyesight problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children). Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and, less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition.
What causes Bardet-Biedl Syndrome, BBS12-Related?
Bardet-Biedl Syndrome, BBS12-Related is caused by a gene change, or mutation, in both copies of the BBS12 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, BBS12-Related
|
BBS12 (NM_152618.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Bardet-Biedl Syndrome, BBS2-Related
|
BBS2 (NM_031885.3) |
Ashkenazi Jewish |
1 in 135 |
1 in 13401 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
Hutterites |
1 in 22 |
1 in 2101 |
99% |
|
Bardet-Biedl Syndrome, BBS2-Related
|
BBS2 (NM_031885.3) |
Ashkenazi Jewish |
1 in 140 |
1 in 2781 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
Hutterites |
1 in 22 |
1 in 421 |
>95% |
|
Bardet-Biedl Syndrome, BBS2-Related
|
BBS2 (NM_ 031885.3) |
Ashkenazi Jewish |
1 in 140 |
1 in 2781 |
>95% |
|
Hutterite |
1 in 22 |
1 in 421 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Bardet-Biedl Syndrome, BBS2-Related?
Bardet-Biedl Syndrome, BBS2-Related is one of a group of autosomal recessive disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and male genital abnormalities. Vision problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and, as a result, have underdeveloped genitals and infertility (inability to have biological children). Increased weight gain often begins in early childhood and continues with age, causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and, less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition.
Very rarely, mutations in the same gene cause a different autosomal recessive disorder called Retinitis Pigmentosa 74. This condition causes vision loss that begins with loss of night vision and worsens over time, usually leading to blindness by adulthood. Only a few families worldwide have been reported with Retinitis Pigmentosa 74.
What causes Bardet-Biedl Syndrome, BBS2-Related?
Bardet-Biedl Syndrome, BBS2-Related is caused by a gene change, or mutation, in both copies of the BBS2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, BBS4-Related
|
BBS4 (NM_033028.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Bardet-Biedl Syndrome, BBS4-Related? Bardet-Biedl Syndrome, BBS4-Related is one of a group of inherited disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and genital abnormalities in males. Eyesight problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children). Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition. What causes Bardet-Biedl Syndrome, BBS4-Related? Bardet-Biedl Syndrome, BBS4-Related is caused by a gene change, or mutation, in both copies of the BBS4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, BBS7-Related
|
BBS7 (NM_176824.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Bardet-Biedl Syndrome, BBS7-Related? Bardet-Biedl Syndrome, BBS7-Related is one of a group of inherited disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and genital abnormalities in males. Eyesight problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children). Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition. What causes Bardet-Biedl Syndrome, BBS7-Related? Bardet-Biedl Syndrome, BBS7-Related is caused by a gene change, or mutation, in both copies of the BBS7 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, BBS9-Related
|
BBS9 (NM_198428.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Bardet-Biedl Syndrome, BBS9-Related? Bardet-Biedl Syndrome, BBS9-Related is one of a group of inherited disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and genital abnormalities in males. Eyesight problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and as a result have underdeveloped genitals and infertility (inability to have biologic children). Increased weight gain often begins in early childhood and continues with age causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition. What causes Bardet-Biedl Syndrome, BBS9-Related? Bardet-Biedl Syndrome, BBS9-Related is caused by a gene change, or mutation, in both copies of the BBS9 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Bardet-Biedl Syndrome, Bbs5-Related
|
BBS5 (NM_152384.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Bardet-Biedl Syndrome, TTC8-Related
|
TTC8 (NM_198309.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Bardet-Biedl Syndrome, TTC8-Related? Bardet-Biedl Syndrome, TTC8-Related is one of a group of inherited disorders that affect many parts of the body. Common signs and symptoms include progressive vision loss, obesity, extra fingers and/or toes (polydactyly), intellectual disability, kidney abnormalities, and genital abnormalities in males. Vision problems begin early in life and worsen with time. People with this condition are usually legally blind by adolescence or early adulthood. Males with this condition usually have reduced amounts of sex hormones and, as a result, have underdeveloped genitals and infertility (inability to have biological children). Increased weight gain often begins in early childhood and continues with age, causing obesity and related health problems. Other signs and symptoms include distinctive facial features, abnormal tooth development, behavior problems, kidney disease, and, less commonly, heart, liver, and bowel disease. Intellectual disability can range from mild to severe. Currently there is no cure or specific treatment for this condition. Very rarely, mutations in the same gene cause a different inherited disorder called Retinitis Pigmentosa 51. This condition causes vision loss that begins with loss of night vision and worsens over time, usually leading to blindness by adulthood. Only a few families worldwide have been reported with this condition. It is sometimes, but not always, possible to determine whether a specific TTC8 gene mutation will cause Bardet-Biedl Syndrome, TTC8-Related or Retinitis Pigmentosa 51. The information below is about Bardet-Biedl Syndrome, TTC8-Related as most people who have mutations in both copies of the TTC8 gene will have this condition. However Retinitis Pigmentosa 51 is inherited in the same manner as Bardet-Biedl Syndrome, TTC8-Related and has the same reproductive options. What causes Bardet-Biedl Syndrome, TTC8-Related? Bardet-Biedl Syndrome, TTC8-Related is caused by a gene change, or mutation, in both copies of the TTC8 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Bare Lymphocyte Syndrome, Type II
|
CIITA (NM_000246.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Bare Lymphocyte Syndrome, CIITA-Related
|
CIITA (NM_ 000246.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Bare Lymphocyte Syndrome, CIITA-Related?
Bare Lymphocyte syndrome, CIITA-Related (also called Bare Lymphocyte Syndrome, Type II) is an autosomal recessive disorder of the immune system. It is one of a group of inherited disorders called Severe Combined Immunodeficiency (SCID). These disorders affect the body’s ability to fight off viral, bacterial and fungal infections. The signs and symptoms of Bare Lymphocyte syndrome, CIITA-Related usually begin in the first few months after birth. Infants and children with this disorder have frequent life-threatening infections that occur in many parts of the body - especially the respiratory tract, gastrointestinal tract, skin, kidneys, urinary tract, and the brain. Children with this condition may have delayed growth and development because of problems with absorbing nutrients from food in the intestines. Death often occurs between 6 months to 5 years of age. Treatment with bone marrow or stem cell transplantation is possible for some children.
What causes Bare Lymphocyte Syndrome, CIITA-Related?
Bare Lymphocyte syndrome, CIITA-Related is caused by a change, or mutation, in both copies of the CIITA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CIITA gene do not work correctly, it leads to the symptoms described above. |
Bare Lymphocyte Syndrome, CIITA-Related
|
CIITA (NM_000246.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
|
TAZ (NM_000116.4) |
General population |
1 in 225000 |
1 in 22499901 |
99% |
|
What is Barth Syndrome? Barth Syndrome is a rare X-linked inherited disorder that affects mainly boys. Barth Syndrome affects the heart, muscles, and immune system. Signs and symptoms usually start before age 5 and include a large and weak heart (dilated cardiomyopathy) with or without other heart problems, muscle weakness, repeated infections, and growth delays. Currently there is no cure for Barth Syndrome and treatment is based on symptoms. Rare individuals may have Familial Dilated Cardiomyopathy or other heart problems (called Left Ventricular Noncompaction) without the other symptoms of Barth Syndrome. It is sometimes, but not always possible, to determine whether a given mutation in the TAZ gene will cause Barth Syndrome, isolated Familial Dilated Cardiomyopathy, or isolated Left Ventricular Noncompaction. The information below is about Barth Syndrome, the most common disorder caused by mutations in the TAZ gene. However, the inheritance pattern and reproductive options also apply to the other disorders caused by TAZ gene mutations. What causes Barth Syndrome? Barth Syndrome is caused by a change, or mutation, in the TAZ gene, which causes the gene to not work properly or not work at all. When this gene does not work correctly, it leads to Barth Syndrome or one of the related disorders described above. |
Bartter Syndrome, BSND-Related
|
BSND (NM_ 057176.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Bartter Syndrome, BSND-Related?
Bartter syndrome, BSND-Related (also known as Bartter Syndrome Type IV or Bartter Syndrome Type 4a) is an autosomal recessive disorder that causes kidney disease and hearing loss. Signs and symptoms usually begin prenatally and may include increased amniotic fluid, swelling of the fetus (hydrops), and premature birth. After birth, infants and children have slow growth and poor weight gain, hearing loss, and decreased muscle tone. They may also have abnormal facial features, developmental delay, and intellectual disability. Dehydration, an increased amount of urine, muscle weakness, fatigue, and weakened bones may also occur. Early diagnosis and treatment may improve the growth and development of infants and children with this condition.
What causes Bartter Syndrome, BSND-Related?
Bartter Syndrome, BSND-Related is caused by a gene change, or mutation, in both copies of the BSND gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the BSND gene are not working correctly, it leads to the symptoms described above. |
Bartter Syndrome, BSND-Related
|
BSND (NM_057176.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Bartter Syndrome, Kcnj1-Related
|
KCNJ1 (NM_000220.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Bartter Syndrome, Slc12A1-Related
|
SLC12A1 (NM_000338.2) |
General population |
1 in 224 |
1 in 22300 |
99% |
|
|
Bartter Syndrome, Type IV
|
BSND (NM_057176.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Batten Disease, CLN3-Related
|
CLN3 (NM_001042432.1) |
Caucasian |
1 in 188 |
1 in 18701 |
99% |
|
General population |
1 in 145 |
1 in 14401 |
99% |
|
Batten Disease, CLN3-Related
|
CLN3 (NM_ 000086.2) |
Caucasian |
1 in 188 |
1 in 3741 |
>95% |
|
General population |
1 in 233 |
1 in 4641 |
>95% |
What is Batten Disease, CLN3-Related?
Batten Disease, CLN3-Related, also known as Juvenile Batten Disease, is an autosomal recessive disorder that affects the brain and nervous system leading to progressive vision loss, intellectual disability, loss of intellectual and motor skills, speech problems, and seizures. Children typically have normal development for several years and then symptoms involving vision, thinking, and movement begin and continue to worsen with age. People with Batten Disease, CLN3-Related may live into their twenties or thirties. Rarely, symptoms begin in infancy and are more severe. Babies with early-onset of symptoms usually do not live past childhood. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Batten Disease, CLN3-Related?
Batten Disease, CLN3-Related is caused by a gene change, or mutation in both copies of the CLN3 gene pair. These mutations cause the genes to not work properly or not work at all. The CLN3 gene is important for the brain and nervous system to function normally. When both copies of the CLN3 gene do not work correctly, cells in the nervous system eventually die, leading to the symptoms described above. |
Bernard-Soulier Syndrome, Type A1/A2
|
GP1BA (NM_000173) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
What is Bernard-Soulier Syndrome, Type A1? Bernard-Soulier Syndrome, Type A1 (BSS, Type A1) is an inherited disorder that affects the platelets, a type of blood cell fragment that helps with blood clotting. People with Bernard-Soulier Syndrome, Type A1 have fewer platelets that are larger than normal (macrothrombocytopenia). Signs and symptoms, severity, and age of onset vary from person to person. In most cases, symptoms are present at birth and continue throughout life, although some people with this condition do not show symptoms until adulthood. Symptoms typically include increased and prolonged bleeding after injury. Some people have episodes of spontaneous bleeding even without known trauma. Other symptoms may include easy bruising with longer healing time, nosebleeds, and/or bleeding from the small capillaries under the skin that causes tiny purple or red spots (called petechiae or purpura). Females with this condition often have heavy and/or long menstrual periods. Currently there is no cure for this condition, but treatments are available to lessen the bleeding problems. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Bernard-Soulier Syndrome, Type A1? Bernard-Soulier Syndrome, Type A1 is caused by a gene change, or mutation, in both copies of the GP1BA gene pair. These mutations cause the genes to not work properly or not work at all. The function of the GP1BA gene pair is to help platelets bind to damaged blood vessels during the clotting process. When both copies of the GP1BA gene do not work correctly, it leads to the symptoms described above. |
Bernard-Soulier Syndrome, Type C
|
GP9 (NM_000174.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Bernard-Soulier Syndrome, Type C? Bernard-Soulier Syndrome, Type C (BSS, Type C) is an inherited disorder that affects the platelets, a type of blood cell fragment that helps with blood clotting. People with Bernard-Soulier Syndrome, Type C have fewer platelets that are larger than normal (macrothrombocytopenia). Signs and symptoms, severity, and age of onset vary from person to person. In most cases, symptoms are present at birth and continue throughout life, although some people with this condition do not show symptoms until adulthood. Symptoms typically include increased and prolonged bleeding after injury with some people having spontaneous bleeds even without known trauma. Other symptoms may include easy bruising with longer healing time, nosebleeds, and/or bleeding from the small capillaries under the skin which causes tiny purple or red spots (called petechiae or purpura). Females with this condition often have heavy and/or long menstrual periods. Currently there is no cure for this condition, but treatments are available to lessen the bleeding problems. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Bernard-Soulier Syndrome, Type C? Bernard-Soulier Syndrome, Type C is caused by a gene change, or mutation, in both copies of the GP9 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the GP9 gene pair is to help platelets bind to damaged blood vessels during the clotting process. When both copies of the GP9 gene do not work correctly, it leads to the symptoms described above. |
|
HBB (NM_ 000518.4) |
African American |
1 in 8 |
1 in 141 |
>95% |
|
Asian |
1 in 54 |
1 in 1061 |
>95% |
Caucasian |
1 in 373 |
1 in 7441 |
>95% |
Hispanic |
1 in 17 |
1 in 321 |
>99% |
Mediterranean |
1 in 28 |
1 in 541 |
>95% |
General population |
1 in 49 |
1 in 961 |
>95% |
What are Beta-Hemoglobinopathies?
Beta-Hemoglobinopathies are a group of autosomal recessive conditions that cause mild to severe anemia. Mild anemia can cause shortness of breath, tiredness, irritability, dizziness, lightheadedness, a rapid heartbeat, and, in children, delayed growth and development. Severe anemia can be life-threatening and may require routine blood transfusions. Some forms of Beta-Hemoglobinopathy are very mild and may not cause symptoms or require treatment. Other forms, such as Sickle Cell Disease and Beta-Thalassemia, cause more severe symptoms that often require medical treatment throughout life. These symptoms can include severe anemia, delayed growth and development, and a number of other health problems. Early identification and treatment of children with severe forms of Beta-Hemoglobinopathy can often help lessen the severity of symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Beta-Hemoglobinopathies?
Beta-Hemoglobinopathies are caused by a change, or mutation, in both copies of the HBB gene. These mutations cause the genes to not work properly or not work at all. When both copies of the HBB gene do not work correctly, it can lead to a Beta-Hemoglobinopathy, with symptoms ranging from very mild to severe.
Carriers for a Beta-Hemoglobinopathy, who have a mutation in only one copy of the HBB gene, may have mild anemia that typically does not need treatment. Rarely, carriers may have moderate anemia that may or may not need treatment. |
Beta-Hemoglobinopathies
|
HBB (NM_000518.4) |
African American |
1 in 8 |
1 in 141 |
>95% |
|
Asian |
1 in 54 |
1 in 1061 |
>95% |
Caucasian |
1 in 373 |
1 in 7441 |
>95% |
General population |
1 in 49 |
1 in 961 |
>95% |
Hispanic |
1 in 17 |
1 in 321 |
>99% |
Mediterranean |
1 in 28 |
1 in 541 |
>95% |
|
Beta-Hemoglobinopathies
|
HBB (NM_000518.4) |
African American |
1 in 10 |
1 in 901 |
99% |
|
Asian |
1 in 54 |
1 in 5301 |
99% |
Caucasian |
1 in 373 |
1 in 37201 |
99% |
East Asian |
1 in 78 |
1 in 7701 |
99% |
General population |
1 in 129 |
1 in 12801 |
99% |
Hispanic |
1 in 83 |
1 in 8201 |
99% |
Mediterranean |
1 in 28 |
1 in 2701 |
99% |
Middle Eastern |
1 in 5 |
1 in 401 |
99% |
South Asian |
1 in 32 |
1 in 3101 |
99% |
Southeast Asian |
1 in 30 |
1 in 2901 |
99% |
|
Beta-Ketothiolase Deficiency
|
ACAT1 (NM_000019.3) |
Asian |
1 in 289 |
1 in 28801 |
99% |
|
Caucasian |
1 in 354 |
1 in 35301 |
99% |
General population |
1 in 347 |
1 in 34601 |
99% |
|
Beta-Ketothiolase Deficiency
|
ACAT1 (NM_ 000019.3) |
Asian |
1 in 289 |
1 in 5761 |
>95% |
|
Caucasian |
1 in 354 |
1 in 1308 |
73% |
General population |
1 in 347 |
1 in 6921 |
>95% |
What is Beta-Ketothiolase Deficiency?
Beta-Ketothiolase Deficiency, also known as Ketothiolase Deficiency, is an autosomal recessive disorder in which the body cannot use a certain building block of a protein called isoleucine and also has problems breaking down fats from the diet. Signs and symptoms of Beta-Ketothiolase Deficiency usually begin in the first or second year of life and include sleeping longer or more often, tiredness, vomiting, diarrhea, fever, poor appetite, and breathing trouble. Signs and symptoms may appear after going a long time without food, after intake of food high in protein, or during illness. With early diagnosis and treatment, children with Beta-Ketothiolase Deficiency can lead healthy lives.
What causes Beta-Ketothiolase Deficiency?
Beta-Ketothiolase Deficiency is caused by a gene change, or mutation, in both copies of the ACAT1 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the ACAT1 genes is to help breakdown fats and protein from the diet. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Beta-Mannosidosis
|
MANBA (NM_005908.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Beta-Ureidopropionase Deficiency
|
UPB1 (NM_016327.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Beta-Ureidopropionase Deficiency? Beta-Ureidopropionase Deficiency is an inherited disorder that affects the nervous system and brain and has signs and symptoms that typically start in early infancy. Symptoms vary from person to person and can include developmental delays and intellectual disability, seizures, autistic-like behavior problems, speech and communication problems, abnormal movements, and weak muscle tone (hypotonia). Some affected children have small heads and brains (microcephaly), other defects of the brain, scoliosis, and/or vision loss. Beta-Ureidopropionase Deficiency is a metabolic disorder in which the body is missing an enzyme that normally processes pyrimidines and other specific substances that are part of certain foods. Children with this disorder have abnormal amounts of the substances that cannot be processed in their urine. Some affected individuals have no symptoms other than the abnormal substances in their urine. Currently there is no cure for Beta-Ureidopropionase Deficiency and treatment is based on symptoms. What causes Beta-Ureidopropionase Deficiency? Beta-Ureidopropionase Deficiency is caused by changes, or mutations, in both copies of the UPB1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the UPB1 gene are not working correctly it leads to the symptoms described above. |
Beta-ketothiolase Deficiency
|
ACAT1 (NM_000019.3) |
Asian |
1 in 289 |
1 in 5761 |
>95% |
|
Caucasian |
1 in 354 |
1 in 1308 |
73% |
General population |
1 in 347 |
1 in 6921 |
>95% |
|
Bilateral Frontoparietal Polymicrogyria
|
GPR56 (NM_005682.6) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Bilateral Frontoparietal Polymicrogyria
|
GPR56 (NM_005682.6) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Bilateral Frontoparietal Polymicrogyria
|
GPR56 (ADGRG1) (NM_005682.6) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Bilateral Frontoparietal Polymicrogyria?
Bilateral Frontoparietal Polymicrogyria is an autosomal recessive disorder that causes abnormal development of the brain that starts before birth. The outer surface of the brain normally has ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds that are too small in size. Bilateral Frontoparietal Polymicrogyria affects the frontal and parietal lobes on both sides of the brain. Signs and symptoms typically include developmental delay, moderate to severe intellectual disability, seizures, problems with muscle coordination, trouble with speech and swallowing, and eye problems including crossed eyes. There is no cure for this disorder and treatment is based on the symptoms.
What causes Bilateral Frontoparietal Polymicrogyria?
Bilateral Frontoparietal Polymicrogyria is caused by a gene change, or mutation, in both copies of the GPR56 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD)
|
SLC19A3 (NM_025243.4) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
Middle Eastern |
1 in 500 |
1 in 49901 |
99% |
What is biotin-thiamine-responsive basal ganglia disease? Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an inherited condition that mainly affects the parts of the brain called the basal ganglia, which help regulate movement. If untreated, BTBGD leads to progressive movement problems. Symptoms typically start in early childhood, although are sometimes seen in infancy and sometimes not until later in life. Movement problems can include muscle spasms (dystonia), muscle weakness and tightness, coordination and gait problems (ataxia), and overactive reflexes (hyperreflexia). The face, eyes, mouth, and limbs can be affected and this may cause problems with eating, swallowing, speech, and walking. These symptoms often get worse during episodes brought on by fever, illness, trauma, or stress. Some untreated children also have developmental delays, intellectual disability, and seizures. Early and lifelong treatment with oral biotin and thiamine supplements prescribed by a healthcare provider can prevent or reduce some of these symptoms, although treatment is often not as effective in babies whose symptoms start early in life. What causes BTBGD? BTBGD is caused by a gene change, or mutation, in both copies of the SLC19A3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SLC19A3 gene do not work correctly, it leads to the symptoms described above. |
|
BTD (NM_ 000060.3) |
Caucasian |
1 in 12 |
1 in 80 |
86% |
|
Hispanic |
1 in 30 |
1 in 581 |
>95% |
General population |
1 in 25 |
1 in 481 |
>95% |
What is Biotinidase Deficiency?
Biotinidase Deficiency is an autosomal recessive disorder in which the body is unable to reuse a B vitamin called biotin. This condition is treatable in affected infants and children by giving biotin. If this condition is not identified in infancy and treated, signs and symptoms typically appear in the first few months of life but can sometimes begin later in childhood.
If untreated, Biotinidase Deficiency can cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance, skin rashes, hair loss, and yeast infections. Some children have a milder form of this condition, and some never develop symptoms. Lifelong treatment with biotin supplements can prevent these complications from occurring. With early diagnosis and treatment with biotin, people with Biotinidase Deficiency can live healthy lives with no symptoms.
What causes Biotinidase Deficiency?
Biotinidase Deficiency is caused by a gene change, or mutation, in both copies of the BTD gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the BTD gene do not work correctly, it leads to the symptoms described above |
Biotinidase Deficiency
|
BTD (NM_000060.3) |
Caucasian |
1 in 12 |
1 in 80 |
86% |
|
General population |
1 in 25 |
1 in 481 |
>95% |
Hispanic |
1 in 30 |
1 in 581 |
>95% |
|
Biotinidase Deficiency
|
BTD (NM_000060.4) |
Caucasian |
1 in 12 |
1 in 1101 |
99% |
|
General population |
1 in 120 |
1 in 11901 |
99% |
Hispanic |
1 in 30 |
1 in 2901 |
99% |
|
Bloom Syndrome
|
BLM (NM_000057.3) |
Ashkenazi Jewish |
1 in 140 |
1 in 13901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
BLM (NM_000057.4) |
Ashkenazi Jewish |
1 in 134 |
1 in 2661 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Bloom Syndrome?
Bloom Syndrome is an autosomal recessive disorder that causes growth delay, sensitivity to sunlight, immune system problems, increased risk for cancer, and sometimes intellectual disability. Most people with Bloom Syndrome live into adulthood but lifespan may be decreased. Currently there is no cure for this condition and treatment is based on symptoms.
Some recent studies have suggested that carriers of Bloom Syndrome may have a slightly increased risk for certain cancers including, but not limited to, breast cancer and colon cancer. However, other studies show no increased risk for cancer. The actual risk for cancer in carriers of Bloom Syndrome, if increased, is not clear and further studies need to be done.
What causes Bloom Syndrome?
Bloom Syndrome is caused by a gene change, or mutation, in both copies of the BLM gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the BLM gene do not work correctly, it causes instability in the chromosomes (structures that contain genes), which leads to the health problems listed above. |
Bloom Syndrome
|
BLM (NM_000057.2) |
Ashkenazi Jewish |
1 in 134 |
1 in 2661 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Brittle Cornea Syndrome 1
|
ZNF469 (NM_001127464.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Brittle Cornea Syndrome 2
|
PRDM5 (NM_018699.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
CTSD (NM_001909.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is CLN10 Disease? CLN10 Disease (also known as Neuronal Ceroid Lipofuscinosis 10) is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of CLN10 Disease typically begin shortly after birth and include serious breathing problems, epileptic seizures, rigid muscles with uncoordinated movement, and small head and brain (microcephaly). Many babies with this condition die in infancy. Some individuals with CLN10 Disease don't develop symptoms until early childhood or adulthood. Symptoms of this late-onset form include loss of brain cells and cognitive function, coordination and balance problems (ataxia), and vision loss. Lifespan is shortened. Currently there is no cure or specific treatment for either form of this disorder. What causes CLN10 Disease? CLN10 Disease is caused by a change, or mutation, in both copies of the CTSD gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CTSD gene do not work correctly, it leads to the symptoms described above. |
CRB1-Related Retinal Dystrophies
|
CRB1 (NM_ 201253.2) |
General population |
1 in 112 |
1 in 2221 |
>95% |
|
What are CRB1-Related Retinal Dystrophies?
CRB1-Related Retinal Dystrophies are a group of autosomal recessive inherited disorders that include Leber Congenital Amaurosis-8; Retinitis Pigmentosa-12, Autosomal Recessive; and Cone-Rod Dystrophy. Leber Congenital Amaurosis-8 causes severe vision loss that is either present at birth or begins in early childhood and progresses to complete vision loss over time. Other symptoms of Leber Congenital Amaurosis-8 may include light sensitivity (photophobia), abnormal eye movements (nystagmus), cataracts, and thinning of the cornea (covering of the eye). Retinitis Pigmentosa-12 causes loss of vision that often starts in childhood, and rarely not until adolescence, and worsens over time but does not cause other symptoms. Cone-Rod Dystrophy causes vision loss that progresses over time with the first symptoms usually including loss of sharpness to the vision, lessened color vision, loss of central vision, and photophobia. Night blindness, loss of peripheral vision, and nystagmus then occur over time. Currently there is no cure for the CRB1-Related Retinal Dystrophies and treatment is based on symptoms.
What causes CRB1-Related Retinal Dystrophies?
The CRB1-Related Retinal Dystrophies are caused by a gene change, or mutation, in both copies of the CRB1 gene pair. These mutations cause the genes to not work properly or not work at all. The CRB1 genes make a protein that is important for the normal development of light-sensing cells in the retina of the eye called photoreceptors. When both copies of the CRB1 gene do not work correctly, vision loss occurs. |
CRB1-Related Retinal Dystrophies
|
CRB1 (NM_201253.2) |
General population |
1 in 112 |
1 in 11101 |
99% |
|
|
CRB1-Related Retinal Dystrophies
|
CRB1 (NM_201253.2) |
General population |
1 in 112 |
1 in 2221 |
>95% |
|
|
Canavan Disease
|
ASPA (NM_000049.2) |
Ashkenazi Jewish |
1 in 55 |
1 in 1081 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
95% |
|
Canavan Disease
|
ASPA (NM_000049.2) |
Ashkenazi Jewish |
1 in 60 |
1 in 5901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
ASPA (NM_000049.3) |
Ashkenazi Jewish |
1 in 55 |
1 in 1081 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
95% |
What is Canavan Disease?
Canavan Disease is an autosomal recessive disorder that causes abnormal muscle tone, developmental delay, and progressive intellectual disability. Hearing and vision loss may also occur. Lifespan is decreased. Some children with Canavan Disease only live into early childhood while others will survive into their teens. In rare cases, symptoms are less severe and typically include motor and speech delays and mild intellectual disability. Currently there is no cure or specific treatment for this condition.
What causes Canavan Disease?
Canavan Disease is caused by a gene change, or mutation, in both copies of the ASPA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ASPA gene do not work correctly, it leads to the symptoms described above. |
Carbamoyl Phosphate Synthetase I Deficiency
|
CPS1 (NM_ 001875.4) |
Asian |
1 in 447 |
1 in 2788 |
84% |
|
Caucasian |
1 in 284 |
1 in 2022 |
86% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Carbamoyl Phosphate Synthetase I Deficiency?
Carbamoyl Phosphate Synthetase I Deficiency (CPS) is an autosomal recessive disorder that causes a buildup of ammonia in the blood. High ammonia levels can cause damage to the brain and nervous system. Signs and symptoms of the most common early-onset form often begin shortly after birth. Symptoms may include sleepiness, poor appetite, breathing problems, vomiting, seizures, and unusual body movements. If left untreated, some children have delayed development and intellectual disability. Symptoms may occur after eating food high in protein, or during illness and can be life-threatening. Some people with this condition have a delayed-onset form that causes milder symptoms beginning later in life. Children with this condition who have ongoing medical treatment and follow a special low-protein diet may be able to avoid some of the effects of this disorder. However, even with careful treatment, some children still have repeated episodes high blood ammonia.
What causes Carbamoyl Phosphate Synthetase I Deficiency?
Carbamoyl Phosphate Synthetase I Deficiency is caused by a gene change, or mutation, in both copies of the CPS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CPS1 gene do not work correctly, it leads to the symptoms described above.
|
Carbamoyl Phosphate Synthetase I Deficiency
|
CPS1 (NM_001875.4) |
Asian |
1 in 447 |
1 in 2788 |
84% |
|
Caucasian |
1 in 284 |
1 in 2022 |
86% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Carbamoyl Phosphate Synthetase I Deficiency
|
CPS1 (NM_001875.4) |
Asian |
1 in 447 |
1 in 44601 |
99% |
|
Caucasian |
1 in 284 |
1 in 28301 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Carnitine Deficiency
|
SLC22A5 (NM_003060.3) |
Asian |
1 in 100 |
1 in 9901 |
99% |
|
Caucasian |
1 in 110 |
1 in 10901 |
99% |
Faroese |
1 in 20 |
1 in 1901 |
99% |
General population |
1 in 200 |
1 in 19901 |
99% |
|
|
SLC22A5 (NM_003060.2) |
Asian |
1 in 100 |
1 in 522 |
81% |
|
Caucasian |
1 in 110 |
1 in 1818 |
94% |
Faroese |
1 in 20 |
1 in 381 |
>95% |
General population |
1 in 200 |
1 in 3981 |
>95% |
What is Carnitine Deficiency?
Carnitine Deficiency (also called Carnitine Uptake Defect, Primary Carnitine Deficiency, or Carnitine Transporter Deficiency) is an autosomal recessive disorder in which certain fats cannot be broken down and used for energy because the body cannot process carnitine. Carnitine is a substance that is found in food and helps the body turn fat into energy. Signs and symptoms of Carnitine Deficiency may begin shortly after birth or in childhood. People with this condition may have low blood sugar (hypoglycemia), lack of energy, poor appetite, breathing problems, vomiting, diarrhea, low blood sugar, and confusion. Symptoms often appear during an illness or after going a long time without food, and can be life-threatening if not treated. Children with this disorder who do not receive treatment may develop an enlarged heart, muscle weakness, and liver disease. Some people with Carnitine Deficiency never have symptoms of this condition. Treatment with carnitine can help prevent or reverse the signs and symptoms of Carnitine Deficiency. Children with this disorder who receive treatment can have healthy growth and development.
What causes Carnitine Deficiency?
Carnitine Deficiency is caused by a gene change, or mutation, in both copies of the SLC22A5 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SLC22A5 gene do not work correctly, it leads to the symptoms described above. |
Carnitine Deficiency, Systemic Primary
|
SLC22A5 (NM_003060.2) |
Asian |
1 in 100 |
1 in 522 |
81% |
|
Caucasian |
1 in 110 |
1 in 1818 |
94% |
Faroese |
1 in 20 |
1 in 381 |
>95% |
General population |
1 in 200 |
1 in 3981 |
>95% |
|
Carnitine Palmitoyltransferase IA Deficiency
|
CPT1A (NM_001876.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Hutterites |
1 in 16 |
1 in 301 |
>95% |
|
Carnitine Palmitoyltransferase IA Deficiency
|
CPT1A (NM_001876.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Hutterites |
1 in 16 |
1 in 1501 |
99% |
|
Carnitine Palmitoyltransferase IA Deficiency
|
CPT1A (NM_ 001876.3) |
Hutterite |
1 in 16 |
1 in 301 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Carnitine Palmitoyltransferase IA Deficiency?
Carnitine Palmitoyltransferase IA (CPT1A) Deficiency is an autosomal recessive disorder in which the body is unable to break down certain fats for energy. Symptoms of Carnitine Palmitoyltransferase IA Deficiency usually begin in infancy. Children with Carnitine Palmitoyltransferase IA Deficiency can have lethargy (extreme tiredness), irritability, appetite problems, vomiting, diarrhea, low blood sugar (hypoglycemia), seizures, and breathing problems. Symptoms may appear after going a long time without eating or with illness and can be life-threatening. Enlarged liver and muscle weakness sometimes also occur. Some children have milder symptoms and fewer health problems. Occasionally, the symptoms do not begin until adulthood and include just muscle cramping, pain, and weakness during exercise without the other symptoms. Lifelong dietary and medical treatment can help prevent or lessen the symptoms of Carnitine Palmitoyltransferase IA Deficiency. With early diagnosis and careful treatment, children with Carnitine Palmitoyltransferase IA Deficiency often have healthy growth and development.
What causes Carnitine Palmitoyltransferase IA Deficiency?
Carnitine Palmitoyltransferase IA Deficiency is caused by a change, or mutation, in both copies of the CPT1A gene pair. These mutations cause the genes to not work properly or not work at all. The CPT1A genes help the body break down a certain type of fat and change it into energy. When both copies of this gene do not work correctly, it can cause low blood sugar and the buildup of this fat in the liver, heart, and brain, leading to the symptoms described above. |
Carnitine Palmitoyltransferase II Deficiency
|
CPT2 (NM_ 000098.2) |
African American |
1 in 308 |
1 in 6141 |
>95% |
|
Ashkenazi Jewish |
1 in 45 |
1 in 881 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 200 |
1 in 3981 |
>95% |
General population |
1 in 182 |
1 in 3621 |
>95% |
What is Carnitine Palmitoyltransferase II Deficiency?
Carnitine Palmitoyltransferase II (CPT II) Deficiency is an autosomal recessive disorder in which the body is unable to breakdown certain fats for energy. Signs and symptoms of Carnitine Palmitoyltransferase II Deficiency begin in infancy, childhood, or in adulthood. Infants with the severe form can have abnormal development of the brain and kidneys, and life-threatening problems including breathing problems, low blood sugar (hypoglycemia), seizures, liver disease, and heart disease. Affected children can have poor muscle tone (hypotonia), extreme tiredness, irritability, feeding problems, fever, diarrhea, vomiting and low blood sugar (hypoglycemia). Other problems can include developmental delays, heart disease, liver disease, and seizures. Symptoms may appear after going a long time without food or with illness and can be life-threatening. Some affected individuals have a form that affects the muscles only, causing muscle pain and weakness.
Lifelong dietary and medical treatment can help prevent some of the signs and symptoms of Carnitine Palmitoyltransferase II Deficiency. With early diagnosis and careful treatment individuals with Carnitine Palmitoyltransferase II Deficiency can have healthy growth and development.
What causes Carnitine Palmitoyltransferase II Deficiency?
Carnitine Palmitoyltransferase II Deficiency is caused by a change, or mutation, in both copies of the CPT2 gene. These mutations cause the genes to not work properly or not work at all. The job of the CPT2 genes is to help the body breakdown a certain type of fat and change it into energy. When both copies of this gene do not work correctly, it can cause low blood sugar and the buildup of this fat in the liver, heart, and brain which leads to the symptoms described above. |
Carnitine Palmitoyltransferase II Deficiency
|
CPT2 (NM_000098.2) |
African American |
1 in 308 |
1 in 6141 |
>95% |
|
Ashkenazi Jewish |
1 in 45 |
1 in 881 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 200 |
1 in 3981 |
>95% |
General population |
1 in 182 |
1 in 3621 |
>95% |
|
Carnitine Palmitoyltransferase II Deficiency
|
CPT2 (NM_000098.2) |
African American |
1 in 308 |
1 in 30701 |
99% |
|
Ashkenazi Jewish |
1 in 51 |
1 in 5001 |
99% |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
Caucasian |
1 in 200 |
1 in 19901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Carnitine-Acylcarnitine Translocase Deficiency
|
SLC25A20 (NM_000387.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Carnitine-Acylcarnitine Translocase Deficiency? Carnitine-Acylcarnitine Translocase (CACT) Deficiency is an inherited disorder in which certain fats cannot be broken down by the body and used for energy. This causes both the buildup of unused fatty acids and other substances in the blood and body and a lack of energy for the cells of the body. Signs and symptoms of CACT Deficiency may begin shortly after birth or not until childhood. Babies and children with this condition have episodes of low blood sugar (hypoglycemia), lack of energy, poor appetite, breathing problems, vomiting, diarrhea, fever, weak muscle tone (hypotonia), abnormal heartbeat, and confusion. Symptoms often appear during an illness, after going a long time without food (fasting), or after eating foods high in fat. If not treated, these episodes can lead to high ammonia levels in the blood, seizures, breathing problems, and coma and can be life-threatening. Babies with early onset of symptoms often die young, even with treatment. Children with later onset of symptoms who do not receive treatment may develop an enlarged heart, liver disease, muscle weakness, and/or developmental delays. Treatment usually includes a special medical diet low in certain fats, avoidance of fasting, and certain doctor-prescribed supplements such as Medium Chain Triglyceride (MCT) oil and L-carnitine. Children with this disorder who receive treatment have a better chance for healthy growth and development although some still have some symptoms. What causes Carnitine-Acylcarnitine Translocase (CACT) Deficiency? CACT Deficiency is caused by a gene change, or mutation, in both copies of the SLC25A20 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SLC25A20 gene do not work correctly, it leads to the symptoms described above. |
Carpenter Syndrome
|
RAB23 (NM_183227.2) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
RAB23 (NM_ 001278667.1) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Carpenter Syndrome?
Carpenter Syndrome is an inherited disorder that causes defects of the skull bones, hands, and feet as well as other parts of the body. Children with Carpenter Syndrome are born with craniosynostosis (fused skull bones) which affects the shape of the head and the appearance of the face. This can cause increased pressure in the skull and abnormal brain development if not corrected by surgery. Children with Carpenter Syndrome often have shortened fingers and toes with webbing of the skin between them (syndactyly). Some people with Carpenter Syndrome have mild to severe intellectual disability. Other health problems happen sometimes and may include additional bone abnormalities, heart defects, vision and hearing problems, oral and dental abnormalities, obesity, and or genital abnormalities. The signs and symptoms of Carpenter Syndrome vary among affected people.
What causes Carpenter Syndrome?
Carpenter Syndrome is caused by a change, or mutation, in both copies of the RAB23 gene. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it causes the health problems described above. |
Carpenter Syndrome
|
RAB23 (NM_001278667.1) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Cartilage-Hair Hypoplasia
|
RMRP (NR_ 003051.3) |
Amish |
1 in 19 |
1 in 361 |
>95% |
|
Finnish |
1 in 76 |
1 in 1501 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Cartilage-Hair Hypoplasia
|
RMRP (NR_003051.3) |
Amish |
1 in 19 |
1 in 1801 |
99% |
|
Finnish |
1 in 76 |
1 in 7501 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Cartilage-Hair Hypoplasia
|
RMRP (NR_ 003051.3) |
Amish |
1 in 19 |
1 in 361 |
>95% |
|
Finnish |
1 in 76 |
1 in 1501 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Cartilage-Hair Hypoplasia?
Cartilage-Hair Hypoplasia (also known as Metaphyseal Dysplasia, Type McKusick) is an autosomal recessive disorder that affects the hair, bones, and the digestive and immune systems. Signs and symptoms include abnormally fine, sparse, brittle, light-colored hair; bone abnormalities that lead to short stature due to short arms and legs (short-limbed dwarfism); constipation; problems digesting some nutrients and gluten from food; repeated infections; and increased risk for certain cancers (basal cell, leukemia, and lymphoma). The immune system impairment varies from mild to severe. People with the most severe immune system problems have repeated and long-lasting infections that can be life-threatening. Some people also have other symptoms that may include light-colored skin and abnormalities of the nails and teeth.
Rarely, mutations in the same gene cause a related disorder, either Metaphyseal Dysplasia without Hypotrichosis or Anauxetic Dysplasia. Metaphyseal Dysplasia without Hypotrichosis has similar bone symptoms and short stature as Cartilage-Hair Hypoplasia but does not cause hair abnormalities, immune system or digestive problems, or anemia. Anauxetic Dysplasia causes more severe bone abnormalities and very short stature, distinct facial features, abnormalities of the teeth, and mild intellectual disability. It is sometimes, but not always, possible to determine which of these disorders a specific mutation in the RMPR gene will cause. Currently there is no cure for any of these conditions and treatment is based on the symptoms.
What causes Cartilage-Hair Hypoplasia?
Cartilage-Hair Hypoplasia is caused by a gene change, or mutation, in both copies of the RMRP gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Catecholaminergic Polymorphic Ventricular Tachycardia
|
CASQ2 (NM_001232.3) |
General population |
1 in 224 |
1 in 22300 |
99% |
|
|
Cd59-Mediated Hemolytic Anemia
|
CD59 (NM_203330.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Cep152-Related Microcephaly
|
CEP152 (NM_014985.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma (Cednik) Syndrome
|
SNAP29 (NM_004782.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Cerebrotendinous Xanthomatosis
|
CYP27A1 (NM_ 000784.3) |
Sephardic Jewish - Moroccan |
1 in 76 |
1 in 1501 |
>95% |
|
General population |
1 in 112 |
1 in 2221 |
>95% |
What is Cerebrotendinous Xanthomatosis?
Cerebrotendinous Xanthomatosis is an autosomal recessive lipid (fat) storage disorder. People with this condition have difficulty breaking down different forms of cholesterol, causing these and other fats to build up in various parts of the body in the form of xanthomas. Xanthomas are yellow, fatty nodules which are most often found in the brain and tendons of people with Cerebrotendinous Xanthomatosis. It is important to treat this condition as symptoms can worsen over time due to the accumulation of excess fats throughout tissues in the body, although increased cholesterol levels are not found in the blood. The number and severity of symptoms will vary from person to person so no two people with Cerebrotendinous Xanthomatosis will be affected the same, even within the same family.
Features of Cerebrotendinous Xanthomatosis can include chronic diarrhea starting in infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to break, and neurological problems in adulthood, such as dementia with decreasing intellectual abilities, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria). The neurological symptoms that occur are thought to be related to the excess amounts of circulating fats and the xanthomas that develop in the brain. Xanthomas that develop in tendons may cause discomfort and lessen tendon flexibility. People with Cerebrotendinous Xanthomatosis also have an increased risk for heart disease.
Currently there is no cure for this condition; however, lifelong treatment with specific medications can either prevent or lessen some of the symptoms.
What causes Cerebrotendinous Xanthomatosis?
Cerebrotendinous Xanthomatosis is caused by a gene change, or mutation, in both copies of the CYP27A1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Cerebrotendinous Xanthomatosis
|
CYP27A1 (NM_000784.3) |
General population |
1 in 112 |
1 in 2221 |
>95% |
|
Sephardic Jewish - Moroccan |
1 in 76 |
1 in 1501 |
>95% |
|
Cerebrotendinous Xanthomatosis
|
CYP27A1 (NM_000784.3) |
General population |
1 in 115 |
1 in 11401 |
99% |
|
Sephardic Jewish - Moroccan |
1 in 5 |
1 in 401 |
99% |
|
Charcot-Marie-Tooth Disease with Deafness, X-Linked
|
GJB1 (NM_000166.5) |
General population |
1 in 3700 |
1 in 369901 |
99% |
|
|
Charcot-Marie-Tooth Disease with Deafness, X-Linked
|
GJB1 (NM_ 000166.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Charcot-Marie-Tooth Disease with Deafness, X-Linked?
Charcot-Marie-Tooth Disease with Deafness, X-Linked (also known as Charcot-Marie-Tooth Neuropathy X, Type 1 or CMTX1) is a condition that occurs mainly in boys and causes progressive nerve damage. This nerve damage leads to muscle weakness, poor coordination and balance, numbness or lack of feeling to touch and vibration, and decreased ability to feel pain or temperature changes. As the disease progresses, people with Charcot-Marie-Tooth Disease with Deafness, X-Linked can have problems with muscle weakness in the limbs, coordination, walking, and speech. Weakness of the feet and ankles and a foot deformity known as pes cavus (high arched foot) is common. Hearing loss occurs in some individuals. A small number of individuals need a wheelchair in adulthood. Symptoms typically begin between early childhood and adulthood and develop slowly over time. Intelligence and lifespan are normal. Female carriers may develop symptoms; however, they are typically milder than those seen in males.
What causes Charcot-Marie-Tooth Disease with Deafness, X-Linked?
Charcot-Marie-Tooth Disease with Deafness, X-Linked is caused by a change, or mutation, in the GJB1 gene. When the GJB1 gene is not working properly it can lead to the symptoms described above.
CMTX1 is an X-linked condition, meaning it is caused by a mutation (change) in the GJB1 gene on the X chromosome. Females have two copies of the X chromosome, but males only have one copy. If a boy has a mutation in his GJB1 gene, he will be affected with CMTX1. A girl who has a mutation in the GJB1 gene on one of her X chromosomes is a carrier of CMTX1, and may or may not have some symptoms which, if present, are typically milder. CMTX1 is usually inherited from a mother who is a carrier of a mutation in the GJB1 gene. |
Charcot-Marie-Tooth Disease, GJB1-Related, X-Linked
|
GJB1 (NM_000166.5) |
General population |
1 in 3700 |
1 in 74000 |
>95% |
|
|
Charcot-Marie-Tooth Disease, Recessive Intermediate C
|
PLEKHG5 (NM_020631.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Charcot-Marie-Tooth Disease, Type 4D
|
NDRG1 (NM_001135242.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Roma |
1 in 22 |
1 in 421 |
>95% |
|
Charcot-Marie-Tooth Disease, Type 4D
|
NDRG1 (NM_001135242.1) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Charcot-Marie-Tooth Disease, Type 4D
|
NDRG1 (NM_006096.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Roma |
1 in 22 |
1 in 2101 |
99% |
|
Charcot-Marie-Tooth Disease, Type 4D
|
NDRG1 (NM_ 001135242.1) |
Roma |
1 in 22 |
1 in 421 |
>95% |
|
General population |
< 1 in 500 |
1 in 9900 |
>95% |
What is Charcot-Marie-Tooth Disease, Type 4D?
Charcot-Marie-Tooth Disease, Type 4D (CMT4D) is an autosomal recessive disorder that causes damage to the peripheral nerves (the nerves outside the brain and spinal cord). Signs of the condition usually begin in childhood and worsen with age. Symptoms include deafness and loss of feeling and muscle wasting in the legs, hands, and feet. The hearing loss may begin in childhood but more commonly starts in adulthood. As the disease progresses, people with this condition often have problems with muscle weakness, coordination, walking, and speech. A high arched foot, known as pes cavus, is common. Some people need a wheelchair in adulthood. CMT4D does not cause intellectual disability and lifespan is usually normal. Currently there is no cure for CMT4D and treatment is based on symptoms.
What causes Charcot-Marie-Tooth Disease, Type 4D?
Charcot-Marie-Tooth Disease, Type 4D is caused by a gene change, or mutation, in both copies of the NDRG1 gene. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it causes the symptoms described above. |
|
LYST (NM_000081.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Chediak-Higashi Syndrome? Chediak-Higashi Syndrome is an inherited disorder which affects many organ systems, but especially the immune system. Because the immune system is not working properly, it causes repeated infections that are often life-threatening. People with Chediak-Higashi Syndrome also have oculocutaneous albinism which causes very light coloring of the hair, skin, and eyes, and often causes abnormal eye movements (nystagmus) and vision problems. Many people with Chediak-Higashi also have a mild bleeding disorder with easy bruising, frequent nose bleeds, and prolonged bleeding after injury. Some individuals with Chediak-Higashi have problems with their nervous system that show up by early adulthood and can include tremor, weak and/or stiff muscles, trouble with balance and walking (ataxia), cognitive losses, and/or peripheral neuropathy (numbness and pain in the limbs). There is a later-onset form of Chediak-Higashi which does not begin until adulthood and causes fewer problems with infections and coloring. However, the adult-onset form causes similar nervous system issues such as tremor, problems with walking, and decline in cognitive function. Currently there is no cure for Chediak-Higashi Syndrome and treatment is based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Chediak-Higashi Syndrome? Chediak-Higashi Syndrome is caused by a gene change, or mutation, in both copies of the LYST gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the LYST gene pair do not work properly, it leads to the symptoms described above. |
Cholesteryl Ester Storage Disease
|
LIPA (NM_000235.3) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
Caucasian |
1 in 145 |
1 in 2881 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
Sephardic Jewish - Iranian |
1 in 26 |
1 in 501 |
>95% |
|
Choreoacanthocytosis
|
VPS13A (NM_033305.2) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
>99% |
|
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
|
VPS13A (NM_ 033305.2) |
Ashkenazi Jewish |
unknown |
unknown |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
95% |
What is Choreoacanthocytosis?
Choreoacanthocytosis (also known as Chorea-Acanthocytosis) is an autosomal recessive disorder that causes neurological problems and abnormally shaped red blood cells. People with this disorder have involuntary jerking movements (chorea) and muscle spasms (dystonia) that worsen over time. The chorea and dystonia occur mainly in the muscles of the limbs, face, mouth, tongue, and throat. Abnormal red blood cells shaped like stars (acanthocytosis) are also common. Seizures develop in about half of all people with this condition and changes in behavior and loss of memory often occur as the condition progresses. People with Choreoacanthocytosis usually start showing symptoms around the age of 30, although symptoms can start as early as age 10 or as late as age 70. There is currently no cure for Choreoacanthocytosis and lifespan is reduced.
What causes Choreoacanthocytosis?
Choreoacanthocytosis is caused by a gene change, or mutation, in both copies of the VPS13A gene. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it causes the symptoms described above. |
Choreoacanthocytosis
|
VPS13A (NM_033305.2) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Choroideremia
|
CHM (NM_000390.3) |
General population |
1 in 25000 |
1 in 2499901 |
99% |
|
|
|
CHM (NM_ 000390.2) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
What is Choroideremia?
Choroideremia is an X-linked inherited condition that causes progressive vision loss, mainly in boys and men. The first sign of Choroideremia is typically loss of night vision. This can sometimes occur during childhood but usually begins in the teens. Loss of peripheral vision (ability to see things on the side when looking straight ahead) follows night blindness and eventually leads to complete blindness in late adulthood.
What causes Choroideremia?
Choroideremia is caused by a change, or mutation, in the CHM gene. This mutation causes the gene to not work properly or not work at all. When the CHM gene in a male is not working correctly, it leads to the symptoms described above. Females who are carriers for Choroideremia typically do not have any symptoms; however, rare female carriers have been reported with mild adult-onset vision changes. |
Choroideremia, X-Linked
|
CHM (NM_000390.2) |
General population |
1 in 25000 |
420000 |
94% |
|
|
Chronic Granulomatous Disease, CYBA-Related
|
CYBA (NM_000101.2) |
Sephardic Jewish - Moroccan |
1 in 13 |
1 in 241 |
>95% |
|
General population |
< 1 in 500 |
1 in 3328 |
85% |
What is Chronic Granulomatous Disease, CYBA-Related?
Chronic Granulomatous Disease, CYBA-Related (also called Chronic Granulomatous Disease, Cytochrome b-negative) is an autosomal recessive disorder that affects the immune system and reduces the body’s ability to fight infection. The immune system is unable to kill bacteria, fungi, and yeast infections and, instead, the immune cells in the body form walls around the infections, forming ‘knots’ called granulomas and chronic inflammation. The lungs are the most common place for infections but they can also occur in the lymph nodes, liver, bladder, bone, skin, and intestines. Individuals with this condition are also at increased risk for autoimmune diseases. Symptoms can begin anytime between infancy to adulthood but most will have symptoms before the age of five. Long-term use of medication is often needed to treat infections and reduce inflammation. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Chronic Granulomatous Disease, CYBA-Related?
Chronic Granulomatous Disease, CYBA-Related is caused by a gene change, or mutation, in both copies of the CYBA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Chronic Granulomatous Disease, CYBA-Related
|
CYBA (NM_000101.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Moroccan |
1 in 13 |
1 in 1201 |
99% |
|
Chronic Granulomatous Disease, Cytochrome b-negative
|
CYBA (NM_000101.2) |
General population |
< 1 in 500 |
1 in 3328 |
85% |
|
Sephardic Jewish - Moroccan |
1 in 13 |
1 in 241 |
>95% |
|
Chronic Granulomatous Disease, Ncf2-Related
|
NCF2 (NM_000433.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Chronic Granulomatous Disease, X-Linked
|
CYBB (NM_000397.3) |
General population |
1 in 180000 |
1 in 17999901 |
99% |
|
|
Chronic Granulomatous Disease, X-Linked
|
CYBB (NM_ 000397.3) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
What is Chronic Granulomatous Disease, X-Linked?
Chronic Granulomatous Disease, X-Linked is an X-linked inherited disorder that decreases the body’s ability to fight infection. The disorder affects mostly males and female carriers usually do not have symptoms. With Chronic Granulomatous Disease, X-Linked, the body is unable to kill bacteria and fungi which then cause infections and inflammation (swelling). The immune cells in the body form a wall around bacteria and infection, forming “knots” called granulomas. Repeated infections occur and often develop in the lungs, lymph nodes, liver, bones, skin, bladder, and gastrointestinal system. Diseases caused by inflammation, such as colitis, bladder and kidney problems happen even when there is no infection present. Symptoms can begin anytime between infancy to adulthood; however most will have symptoms before the age of five. Finding the type of infection and treating it immediately is very important. Medications are often needed to treat infections. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Chronic Granulomatous Disease, X-Linked?
Chronic Granulomatous Disease, X-Linked is caused by a change, or mutation, in the CYBB gene. The role of the CYBB gene is to make a protein that is important for immune system. When the CYBB gene is not working properly in a male it leads to the symptoms described above. Female carriers do not typically have symptoms of the disorder, although rare carriers may show mild symptoms. |
Chronic Granulomatous, X-Linked
|
CYBB (NM_000397.3) |
General population |
1 in 180000 |
1 in 1000000 |
94% |
|
|
Ciliopathies, RPGRIP1L-Related
|
RPGRIP1L (NM_015272.2) |
General population |
1 in 259 |
1 in 5161 |
>95% |
|
|
Ciliopathies, RPGRIP1L-Related
|
RPGRIP1L (NM_ 015272.2) |
General population |
1 in 259 |
1 in 5161 |
>95% |
|
What is Ciliopathies, RPGRIP1L-Related?
Ciliopathies, RPGRIP1L-Related refers to a group of autosomal recessive disorders that cause abnormalities of the cilia, the hair-like structures on the outside of many body cells that help with sensing what’s happening around them and, in some areas of the body, helping move substances like mucus. The group of Ciliopathies, RPGRIP1L-Related include the following disorders: Joubert Syndrome Type 7; Meckel Syndrome Type 5; and COACH Syndrome.
Joubert Syndrome Type 7 has signs and symptoms that begin in infancy and affect the brain and kidneys and include abnormalities of the cerebellum of the brain, developmental delay, intellectual disability, ataxia (gait problems), poor muscle tone (hypotonia), breathing problems, abnormal eye movements, and kidney disease. Lifespan is often shortened. Meckel Syndrome Type 5 causes multiple birth defects including encephalocele (protrusion of the brain through the skull), cleft lip and palate, cystic kidneys, extra fingers and toes, and other problems. Some infants are born with anencephaly, a severe lethal brain defect where parts of the brain and skull do not develop. Meckel Syndrome often leads to death in infancy. Symptoms of COACH Syndrome are similar to Joubert Syndrome Type 7, but with liver disease called hepatic fibrosis. Currently there is no cure for these conditions and treatment is based on symptoms.
What causes Ciliopathies, RPGRIP1L-Related?
Ciliopathies, RPGRIP1L-Related are caused by a gene change, or mutation, in both copies of the RPGRIP1L gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms of one of the disorders described above. It is sometimes, but not always, possible to determine which specific disease in the group of Ciliopathies, RPGRIP1L-Related a specific mutation in the RPGRIP1L gene is likely to cause. |
Ciliopathies, RPGRIP1L-Related
|
RPGRIP1L (NM_015272.4) |
General population |
1 in 259 |
1 in 25801 |
99% |
|
|
Citrin Deficiency
|
SLC25A13 (NM_014251.2) |
Asian |
1 in 123 |
1 in 12201 |
99% |
|
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Citrin Deficiency
|
SLC25A13 (NM_014251.2) |
Asian |
1 in 123 |
1 in 2441 |
>95% |
|
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
SLC25A13 (NM_ 014251.2) |
Asian |
1 in 123 |
1 in 2441 |
>95% |
|
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Citrin Deficiency?
Citrin Deficiency, also known as Citrullinemia type II, is an autosomal recessive disorder with symptoms that begin either in infancy or later in adolescence or adulthood. Affected infants can have jaundice (yellow skin and eyes), growth delay, liver disease, and hypoglycemia (low blood sugar). Symptoms may appear after going a long time without food or during illness. These symptoms often resolve by 6 to 12 months of age. However, some affected infants will have continued problems that may include liver cirrhosis and severe infections later in life. Adult-onset Citrin Deficiency symptoms include sudden onset of disorientation, abnormal behavior, seizures, liver disease, and coma due to high blood ammonia levels. Treatment often includes low carbohydrate diet and certain supplements. If the condition is not treated, liver transplant may be needed.
What causes Citrin Deficiency?
Citrin Deficiency is caused by a gene change, or mutation, in both copies of the SLC25A13 gene pair. These mutations cause the genes to not work properly or not work at all. The SLC25A13 genes provide instructions for making a protein called citrin, which is important in many parts of the body. When both copies of this gene pair do not work correctly, it causes the symptoms described above. |
|
ASS1 (NM_000050.4) |
Asian |
1 in 123 |
1 in 1357 |
91% |
|
Caucasian |
1 in 195 |
1 in 3881 |
>95% |
General population |
1 in 119 |
1 in 2361 |
>95% |
What is Citrullinemia, Type 1?
Citrullinemia, Type 1 is an autosomal recessive disorder in which the body is unable to remove certain waste products, specifically ammonia, which leads to a toxic buildup in the body. There are several types of Citrullinemia, Type 1. In the severe form, life-threatening problems begin in the first days of life with lethargy, poor feeding, vomiting, seizures, and coma. Some people have a later-onset (childhood or adulthood) type Citrullinemia, Type 1 with symptoms that include headaches, vision loss, problems with balance and muscle coordination (ataxia), and lethargy (extreme tiredness). Some people with Citrullinemia, Type 1 never experience signs and symptoms of the disorder. Treatment includes lifelong dietary and medical management.
What causes Citrullinemia, Type 1?
Citrullinemia, Type 1 is caused by a gene change, or mutation, in both copies of the ASS1 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the ASS1 genes is to breakdown specific toxins in the body. When both copies of this gene do not work correctly, it causes buildup of toxins, including ammonia, which leads to the symptoms described above. |
Citrullinemia, Type 1
|
ASS1 (NM_000050.4) |
Asian |
1 in 123 |
1 in 12201 |
99% |
|
Caucasian |
1 in 195 |
1 in 19401 |
99% |
General population |
1 in 119 |
1 in 11801 |
99% |
|
Citrullinemia, Type I
|
ASS1 (NM_000050.4) |
Asian |
1 in 123 |
1 in 1357 |
91% |
|
Caucasian |
1 in 195 |
1 in 3881 |
>95% |
General population |
1 in 119 |
1 in 2361 |
>95% |
|
Cohen Syndrome
|
VPS13B (NM_017890.4) |
General population |
<1 in 500 |
1 in 4991 |
90% |
|
|
|
VPS13B (NM_ 017890.4) |
General population |
1 in 500 |
1 in 4991 |
90% |
|
What is Cohen Syndrome?
Cohen Syndrome is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms begin in infancy and include developmental delay, small head size, a distinctive facial appearance, and hypotonia (low muscle tone). Affected children have intellectual disability, vision problems, overly mobile joints, obesity, short stature, narrow hands and feet, and neutropenia (low level of white blood cells). Currently there is no cure for Cohen Syndrome and treatment is based on symptoms.
What causes Cohen Syndrome?
Cohen Syndrome is caused by a gene change, or mutation, in both copies of the VPS13B gene pair (also known as COH1). These mutations cause the genes to not work properly or not work at all. When both copies of the VPS13B gene pair do not work correctly, it leads to the symptoms described above. |
Cohen Syndrome
|
VPS13B (NM_017890.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Col11A2-Related Conditions
|
COL11A2 (NM_080680.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Combined Malonic and Methylmalonic Aciduria
|
ACSF3 (NM_174917.4) |
General population |
1 in 86 |
1 in 8501 |
99% |
|
|
Combined Malonic and Methylmalonic Aciduria
|
ACSF3 (NM_001127214.3) |
General population |
1 in 86 |
1 in 1701 |
>95% |
|
|
Combined Malonic and Methylmalonic Aciduria
|
ACSF3 (NM_ 001127214.3) |
General population |
1 in 86 |
1 in 1701 |
>95% |
|
What is Combined Malonic and Methylmalonic Aciduria?
Combined Malonic and Methylmalonic Aciduria is an autosomal recessive disorder that causes high levels of malonic acid and methylmalonic acid in the body and urine. Signs and symptoms can begin in childhood or adulthood. In those with childhood-onset disease, symptoms may include organ damage due to acidosis, involuntary muscles tension, weak muscle tone, developmental delays, poor growth and weight gain, small head size, low blood sugar, or even coma. For those with delayed adult-onset disease, symptoms usually include seizures, memory loss, cognitive decline, or psychiatric disease.
What causes Combined Malonic and Methylmalonic Aciduria?
Combined Malonic and Methylmalonic Aciduria is caused by a change, or mutation, in both copies of the ACSF3 gene pair. These mutations cause the ACSF3 genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Combined Oxidative Phosphorylation Deficiency 1
|
GFM1 (NM_ 024996.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Combined Oxidative Phosphorylation Deficiency 1?
Combined Oxidative Phosphorylation Deficiency 1 is a severe autosomal recessive disorder that begins before birth and affects many parts of the body including the brain, nervous system, heart, and liver. Symptoms in affected infants include growth delay, small head size, brain abnormalities, tight muscles, decreased movements, seizures, developmental delay, and poor muscle tone. Affected infants also develop cardiomyopathy (an enlarged heart that does not pump properly), and liver disease. Symptoms progressively worsen and death often occurs in infancy or in the first few years of life. Currently there is no cure for this condition.
What causes Combined Oxidative Phosphorylation Deficiency 1?
Combined Oxidative Phosphorylation Deficiency 1 is caused by a change, or mutation, in both copies of the GFM1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the GFM1 gene pair do not work correctly, it leads to the symptoms described above. |
Combined Oxidative Phosphorylation Deficiency 1
|
GFM1 (NM_024996.5) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Combined Oxidative Phosphorylation Deficiency 3
|
TSFM (NM_001172696.1) |
Finnish |
1 in 80 |
1 in 7901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Combined Oxidative Phosphorylation Deficiency 3
|
TSFM (NM_ 001172696.1) |
Finnish |
1 in 80 |
1 in 1581 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Combined Oxidative Phosphorylation Deficiency 3?
Combined Oxidative Phosphorylation Deficiency 3 is an autosomal recessive disorder that affects the mitochondria, the energy-producing parts of the cells. This condition affects many parts of the body including the brain, nervous system, heart, and liver. Signs and symptoms usually begin before or at birth. Infants typically have a slower than average growth rate, brain abnormalities, tight muscles (spasticity), abnormal movements, seizures, developmental delay, muscle weakness, and poor muscle tone. Many infants also have episodes of metabolic acidosis in which toxic substances build up in the blood and cause lack of energy, vomiting, breathing problems, seizures, and sometimes coma or death. Some infants also develop an enlarged heart (cardiomyopathy) and enlarged liver. Children with the severe form of this condition often die in infancy or early childhood. Some children with Combined Oxidative Phosphorylation Deficiency 3 have a milder form of the condition with symptoms that show up later that may include learning disabilities or intellectual disability, vision loss, muscle weakness, and a movement disorder. Currently there is no cure or specific treatment for this condition.
What causes Combined Oxidative Phosphorylation Deficiency 3?
Combined Oxidative Phosphorylation Deficiency 3 is caused by a gene change, or mutation, in both copies of the TSFM gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work properly, it leads to the symptoms described above. |
Combined Oxidative Phosphorylation Deficiency 3
|
TSFM (NM_001172696.1) |
Finnish |
1 in 80 |
1 in 1581 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Combined Oxidative Phosphorylation Defiency 4
|
GFM1 (NM_024996.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Combined Pituitary Hormone Deficiency 1
|
POU1F1 (NM_000306.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Combined Pituitary Hormone Deficiency 3
|
LHX3 (NM_014564.3) |
General population |
< 1 in 500 |
1 in 6238 |
92% |
|
|
Combined Pituitary Hormone Deficiency-2
|
PROP1 (NM_006261.4) |
General population |
1 in 141 |
1 in 14001 |
99% |
|
|
Combined Pituitary Hormone Deficiency-2
|
PROP1 (NM_ 006261.4) |
General population |
1 in 141 |
1 in 2801 |
>95% |
|
What is Combined Pituitary Hormone Deficiency-2?
Combined Pituitary Hormone Deficiency-2 is an autosomal recessive disorder that causes short stature and other health and developmental problems. These symptoms are caused by lack of pituitary hormones in the body. Pituitary hormones are made in the brain by the pituitary gland. Affected infants have low blood sugar (hypoglycemia), seizures (due to hypoglycemia), and growth delay. Hypothyroidism and cortisol deficiency can also occur. Without treatment affected individuals have short stature and may have delayed or absent puberty and infertility (inability to have biological children). Treatment includes lifelong pituitary hormone replacement therapy. With treatment, affected individuals can lead healthy lives.
What causes Combined Pituitary Hormone Deficiency-2?
Combined Pituitary Hormone Deficiency-2 is caused by a change, or mutation, in both copies of the PROP1 gene pair. These mutations cause the genes to not work properly or not work at all. The PROP1 genes are important in the development of the pituitary gland. When both copies of this gene do not work correctly, the pituitary gland is unable to make the hormones that are important for growth and onset of puberty, leading to the symptoms described above. |
Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency
|
CYP11B1 (NM_000497.3) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
What is Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency? Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency is a rare inherited condition that is one of a group of disorders (called Congenital Adrenal Hyperplasia) that affect the adrenal glands. The adrenal glands sit on top of the kidneys and make hormones that control many functions in the body. In people with Congenital Adrenal Hyperplasia, 11-beta-hydroxylase deficiency, the adrenal glands produce too many male sex hormones called androgens. There are two types of Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types. Females with the classic form of Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency have external genitals that do not look clearly male or female. However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have early development of their secondary sexual characteristics such as growth of facial and pubic hair, deepening of the voice, appearance of acne, and onset of a growth spurt. The early growth spurt can prevent growth later and lead to short stature in adulthood. About two-thirds of children with the classic form of this condition deficiency have high blood pressure (hypertension) that typically develops within the first year of life. Treatment includes hormone therapy and other medications as needed. Females with the non-classic form of Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency have normal female genitals. As affected females get older, they may develop excessive growth of body hair (hirsutism) and irregular menstrual periods. Males with the non-classic form of this condition do not typically have any symptoms except for short stature. The non-classic form of CAH, 11-Beta-Hydroxylase Deficiency does not cause high blood pressure and lifespan is not shortened. What causes Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency? Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency is caused by a change, or mutation, in both copies the CYP11B1 gene pair. These mutations cause the genes to not work properly or not work at all. When the CYP11B1 gene is not working properly it can lead to the symptoms of Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency described above. |
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency
|
CYP17A1 (NM_ 000102.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency?
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency is an autosomal recessive disorder that causes decreased production of sex hormones in the body. Affected males are born with external genitals that do not have the typical appearance of male or female (ambiguous genitalia) and without treatment they will not go through normal puberty. Affected females are born with normal external genitals but without treatment, they will not go through normal puberty or develop secondary sexual characteristics. Both males and females with this disorder have hypertension (high blood pressure) and low potassium levels. Treatment includes hormone replacement therapies.
What causes Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency?
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency is caused by a change, or mutation, in both copies of the CYP17A1 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the CYP17A1 genes is to help make sex hormones and other hormones. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency
|
CYP17A1 (NM_000102.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency
|
CYP17A1 (NM_000102.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
What is Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficiency? Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficiency (also called 21-Hydroxylase Deficiency) is an inherited disorder that causes the adrenal glands, the organs that sit on top of the kidneys, to make decreased amounts of the hormones cortisol and aldosterone and increased amounts of male sex hormones called androgens. There are three forms of 21-Hydroxylase Deficiency. The most common and severe form is called the 'salt-wasting type' with signs and symptoms that are often present at birth. Babies with the salt-wasting type of 21-Hydroxylase Deficiency are at risk for losing large amounts of sodium in the urine due to too low a level of aldosterone hormone. These 'salt-wasting crises' can lead to poor feeding, weight loss, dehydration, vomiting, low blood pressure, and shock, and can be life-threatening if not treated quickly. Symptoms in females include being born with external genitals that do not have the typical appearance of male or female (ambiguous genitalia). Over time, affected females may also have early puberty, rapid early growth with short adult height, increased body hair (hirsutism), male pattern baldness, irregular menstrual periods, and decreased fertility. Affected males have normal genitals at birth but are at risk for salt-wasting crises and may have increased penis size and decreased testicle size over time as well as an early growth spurt with short adult height. Some males with this form have decreased fertility due to benign growths in their testicles called 'testicular adrenal rest tumors'. The 'simple virilizing type' of 21-Hydroxylase Deficiency has similar symptoms to the salt-wasting type except babies with the simple virilizing type are not at risk for salt wasting crises. The mildest form of 21-Hydroxylase Deficiency is called the 'non-classical type'. People with the non-classical type of 21-Hydroxylase Deficiency have normal external genitals. Signs and symptoms may begin as early as childhood or not until adulthood and may include an early growth spurt with short adult height, early puberty, and acne. Additional symptoms in females may include excess body hair, male pattern baldness, irregular periods, and decreased fertility. Additional symptoms in males may include early and heavy facial hair and small testicles. Some people with this type never develop symptoms. Currently, there is no cure for 21-Hydroxylase Deficiency. However, hormone replacement therapy can prevent or lessen some or all of the symptoms. What causes Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficiency? 21-Hydroxylase Deficiency is caused by a change, or mutation, in both copies of the CYP21A2 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the CYP21A2 genes is to help make sex hormones and other hormones. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Adrenal Hyperplasia; 21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia
|
CYP21A2 (NM_000500.7) Classical |
Ashkenazi Jewish |
1 in 40 |
1 in 1951 |
98% |
|
Caucasian |
1 in 67 |
1 in 3301 |
98% |
General population |
1 in 61 |
1 in 3001 |
98% |
|
Congenital Adrenal Hyperplasia; 21-Hydroxylase-Deficient Non-Classical Congenital Adrenal Hyperplasia
|
CYP21A2 (NM_000500.7) Non-Classical |
Ashkenazi Jewish |
1 in 7 |
1 in 301 |
98% |
|
Caucasian |
1 in 11 |
1 in 501 |
98% |
General population |
1 in 17 |
1 in 801 |
98% |
|
Congenital Adrenal Insufficiency, CYP11A1-Related
|
CYP11A1 (NM_000781.2) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is congenital adrenal insufficiency, CYP11A1-related? Congenital adrenal insufficiency, CYP11A1-related (also known as P450scc deficiency), is a rare inherited condition that affects the adrenal glands. These glands sit on top of the kidneys and make hormones that control many functions in the body. In people with congenital adrenal insufficiency, CYP11A1-related, the adrenal glands produce either too little or no steroid hormones (cortisol, progesterone, testosterone, and aldosterone). In addition, the body may produce too much of other hormones (ACTH and renin). Babies with the severe form of this condition are sometimes born prematurely. Males may be born with female-appearing genitals, a small penis, or a penis with a tube (urethra) that opens on the shaft rather than the end (hypospadias). Females with this condition have normal genitals. The severe form results in adrenal hormone deficiency starting in infancy or childhood. Low adrenal hormone levels may cause bronze color to the skin and episodes of salt loss (called "salt-wasting"), which leads to poor feeding, weakness, dizziness, vomiting, confusion, low blood pressure, and sometimes seizures or breathing problems. These episodes need to be treated quickly or can be life-threatening. Some children with this condition have partial adrenal deficiency. Males with partial deficiency may still have genital differences at birth. The other symptoms appear to start later, often between the ages of 2-9 years. Children with this form may have repeated episodes that can include weakness, vomiting, dizziness, and seizures. Currently there is no cure for either form of congenital adrenal insufficiency, CYP11A1-related. However, treatment with hydrocortisone and other medications can prevent or lessen some of the symptoms. What causes congenital adrenal insufficiency, CYP11A1-related? Congenital adrenal insufficiency, CYP11A1-related, is caused by a change, or mutation, in both copies of the CYP11A1 gene pair. These mutations cause the genes to not work properly or not work at all. When the CYP11A1 gene is not working properly it can lead to the symptoms described above. |
Congenital Amegakaryocytic Thrombocytopenia
|
MPL (NM_005373.2) |
Ashkenazi Jewish |
1 in 57 |
1 in 5601 |
99% |
|
Caucasian |
1 in 266 |
1 in 26501 |
99% |
General population |
1 in 415 |
1 in 41401 |
99% |
|
Congenital Amegakaryocytic Thrombocytopenia
|
MPL (NM_ 005373.2) |
Ashkenazi Jewish |
1 in 57 |
1 in 1121 |
>95% |
|
Caucasian |
1 in 266 |
1 in 5301 |
>95% |
General population |
1 in 415 |
1 in 8281 |
>95% |
What is Congenital Amegakaryocytic Thrombocytopenia?
Congenital Amegakaryocytic Thrombocytopenia is a rare autosomal recessive disorder that leads to a reduced number of certain blood cells (megakaryocytes) that make platelets, which are needed for blood clotting. This can progress to bone marrow failure over time. Symptoms are usually seen within the first week to nine months of life and include bleeding in the lung, intestines, brain, and skin. Some children also have delayed development and or heart defects. Treatment includes repeated blood transfusions. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. If Congenital Amegakaryocytic Thrombocytopenia is left untreated, about a third of patients die of bleeding complications or bone marrow failure.
What causes Congenital Amegakaryocytic Thrombocytopenia?
Congenital Amegakaryocytic Thrombocytopenia is caused by a gene change, or mutation, in both copies of the MPL gene. These mutations cause the genes to not work properly or not work at all. When both copies of the MPL gene do not work correctly, it causes the symptoms described above. |
Congenital Amegakaryocytic Thrombocytopenia
|
MPL (NM_005373.2) |
Ashkenazi Jewish |
1 in 57 |
1 in 1121 |
>95% |
|
Caucasian |
1 in 266 |
1 in 5301 |
>95% |
General population |
1 in 415 |
1 in 8281 |
>95% |
|
Congenital Chronic Diarrhea
|
DGAT1 (NM_012079.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Congenital Disorder Of Glycosylation Type 1, Alg1-Related
|
ALG1 (NM_019109.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
|
PMM2 (NM_000303.2) |
Ashkenazi Jewish |
1 in 61 |
1 in 6001 |
99% |
|
Asian |
1 in 449 |
1 in 44801 |
99% |
Caucasian |
1 in 42 |
1 in 4101 |
99% |
General population |
1 in 124 |
1 in 12301 |
99% |
|
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related
|
PMM2 (NM_ 000303.2) |
Ashkenazi Jewish |
1 in 61 |
1 in 1201 |
>95% |
|
Asian |
1 in 449 |
1 in 8961 |
>95% |
Caucasian |
1 in 42 |
1 in 821 |
>95% |
General population |
1 in 124 |
1 in 2461 |
>95% |
What is Congenital Disorder of Glycosylation, Type 1A, PMM2-Related?
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related, also known as PMM2-Congenital Disorder of Glycosylation, is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms usually begin in infancy and include weak muscle tone, inverted nipples, abnormal distribution of fat, eyes that do not look in the same direction (strabismus), distinct facial features, developmental delay, and a failure to grow or gain weight. Children with Congenital Disorder of Glycosylation, Type 1A, PMM2-Related may also have an underdeveloped area of brain, called the cerebellum, which controls and coordinates body movement. Children with this disorder may also have elevated liver function tests, seizures, fluid around the heart, and blood clotting disorders. The symptoms of this condition can be life-threatening and about 20% of affected infants die within the first year of life. Affected individuals may develop moderate intellectual disability in childhood and some are unable to walk independently; some may also experience stroke-like episodes. Teenagers and adults with Congenital Disorder of Glycosylation, Type 1A, PMM2-Related may have reduced sensation and weakness in their arms and legs, an abnormal curvature of the spine, impaired muscle coordination, and joint deformities. Some affected individuals experience significant vision loss. Females with Congenital Disorder of Glycosylation, Type 1A, PMM2-Related typically do not go through puberty. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Congenital Disorder of Glycosylation, Type 1A, PMM2-Related?
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related is caused by a change, or mutation, in both copies of the PMM2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Disorder of Glycosylation, Type 1B
|
MPI (NM_ 001289155.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Congenital Disorder of Glycosylation, Type 1B?
Congenital Disorder of Glycosylation, Type 1B is an autosomal recessive disorder that causes problems with the growth and function of the body. Symptoms begin in infancy and include failure to gain weight and slower than average growth (failure to thrive). Affected children can have poor muscle tone (hypotonia), digestive problems, malnutrition, liver disease, increased number of infections, low blood sugar, and problems forming blood clots. Treatment can be successful in reversing symptoms. Lack of treatment may result in death. Intellectual disability and neurologic problems are not present in Congenital Disorder of Glycosylation, Type 1B in contrast to other types of Congenital Disorders of Glycosylation.
What causes Congenital Disorder of Glycosylation, Type 1B?
Congenital Disorder of Glycosylation, Type 1B is caused by a gene change, or mutation, in both copies of the MPI gene. These mutations cause the genes to not work properly or not work at all. The function of the MPI genes is to help process fats and proteins from the diet so that they can be used in the body. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Disorder of Glycosylation, Type 1B
|
MPI (NM_002435.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Congenital Disorder of Glycosylation, Type 1C
|
ALG6 (NM_013339.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Congenital Disorder of Glycosylation, Type 1C
|
ALG6 (NM_013339.3) |
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
|
Congenital Disorder of Glycosylation, Type 1C
|
ALG6 (NM_ 013339.3) |
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
What is Congenital Disorder of Glycosylation, Type 1C?
Congenital Disorder of Glycosylation, Type 1C, also known as ALG6-Congenital Disorder of Glycosylation, is an autosomal recessive disorder that causes problems with the growth and function of the body. Symptoms begin in infancy and include failure to gain weight and slower than average growth (failure to thrive). Affected children can have neurologic problems including poor muscle tone (hypotonia), developmental delay, problems with balance and movement (ataxia), seizures, and in some cases, stroke-like episodes. Vision problems, including strabismus (lazy eye) and a vision loss condition called retinitis pigmentosa, can also occur in Congenital Disorder of Glycosylation, Type 1C. Affected females often have low levels of sex hormones and may not go through puberty without hormone replacement therapy.
What causes Congenital Disorder of Glycosylation, Type 1C?
Congenital Disorder of Glycosylation, Type 1C is caused by a gene change, or mutation, in both copies of the ALG6 gene. These mutations cause the genes to not work properly or not work at all. The function of the ALG6 genes is to help process fats and proteins from the diet so that they can be used in the body. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Disorder of Glycosylation, Type IB
|
MPI (NM_001289155.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Congenital Dyserythropoietic Anemia Type 2
|
SEC23B (NM_006363.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Congenital Finnish Nephrosis
|
NPHS1 (NM_004646.3) |
Finnish |
1 in 45 |
1 in 4401 |
99% |
|
General population |
1 in 325 |
1 in 32401 |
99% |
Groffdale Conference Mennonites |
1 in 12 |
1 in 1101 |
99% |
|
Congenital Finnish Nephrosis
|
NPHS1 (NM_ 004646.3) |
Finnish |
1 in 45 |
1 in 881 |
>95% |
|
Groffdale Conference Mennonite |
1 in 12 |
1 in 221 |
>95% |
General population |
1 in 325 |
1 in 6481 |
>95% |
What is Congenital Finnish Nephrosis?
Congenital Finnish Nephrosis, also known as Congenital Nephrotic Syndrome or Nephrotic Syndrome Type 1, is an autosomal recessive disorder that affects the kidneys. Symptoms often begin before birth and may include a large placenta and premature birth. Affected babies often have swelling of the body (edema), high cholesterol, anemia, and repeated infections. The kidneys become more damaged over time which leads to blood and/or too much protein being lost in the urine. In most cases the kidney disease progresses to complete renal failure within the first 10 years of life. Without a kidney transplant affected individuals often die in childhood or early adulthood.
What causes Congenital Finnish Nephrosis?
Congenital Finnish Nephrosis is caused by a gene change, or mutation in both copies of the NPHS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the NPHS1 gene do not work correctly, it leads to the kidney damage and symptoms described above. |
Congenital Hydrocephalus 1
|
CCDC88C (NM_001080414.3) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is congenital hydrocephalus 1? Congenital hydrocephalus 1 is an inherited condition that causes a buildup of fluid in the ventricles (the spaces inside the brain). This usually starts during pregnancy, before a baby is born. The fluid build-up can cause an enlarged head size, seizures, and other symptoms. Hydrocephalus is often treated with surgery to place a shunt in the ventricles to drain the fluid. Some children with this condition have additional brain changes which may cause developmental delay and/or intellectual disability. Currently, there is no cure for this condition and treatment is based on symptoms. What causes congenital hydrocephalus 1? Congenital hydrocephalus 1 is caused by a change, or mutation, in both copies of the CCDC88C gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene are not working correctly, it leads to the symptoms described above. |
Congenital Hyperinsulinism, KCNJ11-Related
|
KCNJ11 (NM_ 000525.3) |
General population |
1 in 500 |
1 in 9981 |
>95% |
|
What is Congenital Hyperinsulinism, KCNJ11-Related?
Congenital Hyperinsulinism, KCNJ11-Related (also called Hyperinsulinemic Hypoglycemia) is an autosomal recessive disorder that causes abnormally high levels of insulin, the hormone that controls blood sugar. This leads to episodes of low blood sugar (hypoglycemia), usually starting the first few days or months of life. Low blood sugar causes lack of energy, irritability, and poor feeding. If left untreated it may lead to seizures and brain damage. Symptoms also include poor muscle tone and breathing problems. Treatment with special diet and medications may help reduce the symptoms, but some children may need surgery to remove all or part of the pancreas. If not treated, this condition can cause intellectual disability.
What causes Congenital Hyperinsulinism, KCNJ11-Related?
Congenital Hyperinsulinism, KCNJ11-Related is caused by a gene change, or mutation, in both copies of the KCNJ11 gene pair. These mutations cause the KCNJ11 genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above.
Less commonly, mutations in the same gene cause a different disorder, either Permanent Neonatal Diabetes Mellitus or Transient Neonatal Diabetes Mellitus. Babies with these conditions have low birth weight and high blood sugar (hyperglycemia), dehydration and growth failure within the first 6 months of life. Transient Neonatal Diabetes Mellitus typically resolves before age 2 but often returns again in the teens or early adulthood. Permanent Neonatal Diabetes Mellitus needs lifelong treatment. Some children with Permanent Neonatal Diabetes Mellitus also have developmental delay, seizures, or learning problems. Neonatal Diabetes Mellitus is usually inherited in and autosomal dominant manner from a parent who is affected with the disorder. It is sometimes, but not always, possible to determine whether a specific mutation in the KCNJ11 gene will cause Congenital Hyperinsulinism, KCNJ11-Related or Neonatal Diabetes Mellitus. |
Congenital Hyperinsulinism, KCNJ11-Related
|
KCNJ11 (NM_000525.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
|
NTRK1 (NM_001012331.1) |
Asian |
1 in 387 |
1 in 38601 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
Sephardic Jewish - Moroccan |
< 1 in 500 |
1 in 49901 |
99% |
|
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
|
NTRK1 (NM_001012331.1) |
Asian |
1 in 387 |
1 in 7721 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
Sephardic Jewish - Moroccan |
< 1 in 500 |
1 in 49901 |
>99% |
|
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
|
NTRK1 (NM_ 001012331.1) |
Asian |
1 in 387 |
1 in 7721 |
>95% |
|
Sephardic Jewish - Moroccan |
unknown |
unknown |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Congenital Insensitivity to Pain with Anhidrosis (CIPA)?
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an autosomal recessive disorder that affects the nervous system. People with this disorder cannot feel pain or temperature changes, have reduced or absent sweating (anhidrosis), and most have some degree of intellectual disability. Signs and symptoms of CIPA usually begin at birth or shortly after and, because of repeated injuries and burns that cannot be felt, the condition is life-threatening. High fevers are common and can lead to seizures if not treated. Other symptoms may include slow healing of wounds and broken bones, thickened skin, and patchy hair loss. About half of all people with this condition have emotional and behavioral problems that may include anxiety and severe attention deficit hyperactivity disorder (ADHD). Currently there is no cure for this condition, but with supportive treatment people with CIPA can live into adulthood.
What causes Congenital Insensitivity to Pain with Anhidrosis (CIPA)?
Congenital Insensitivity to Pain with Anhidrosis is caused by a gene change, or mutation, in both copies of the NTRK1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Myasthenic Syndrome, CHAT-Related
|
CHAT (NM_020549.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Congenital Myasthenic Syndrome, CHAT-Related? Congenital Myasthenic Syndrome, CHAT-Related is an inherited disorder that affects the muscles. Symptoms of muscle weakness (myasthenia) can begin shortly after birth with poor muscle tone (hypotonia) and episodes of apnea (periodic stops in breathing). In some cases, symptoms may not begin until later in life. Affected infants and children often have feeding and swallowing problems, developmental delays, and breathing problems that include episodes of apnea that get worse during illness. Muscle weakness may worsen with exercise. Speech problems may occur due to facial muscle weakness. The degree of muscle weakness varies among individuals affected with Congenital Myasthenic Syndrome, CHAT-Related, but remains stable and does not worsen with age. Currently, there is no cure for this disorder and treatment is based on symptoms. What causes Congenital Myasthenic Syndrome, CHAT-Related? The majority of cases of Congenital Myasthenic Syndrome, CHAT-Related are caused by a change, or mutation, in both copies of the CHAT gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CHAT gene do not work correctly, it leads to the symptoms described above. Most cases of Congenital Myasthenic Syndrome, CHAT-Related are inherited in an autosomal recessive manner. This means that, in most cases, both parents must be carriers of a mutation in one copy of the CHAT gene to have a child with this type of Congenital Myasthenic Syndrome. Most people who are carriers for Congenital Myasthenic Syndrome, CHAT-Related are healthy and do not have symptoms, nor do they have this disorder themselves. Usually a child inherits two copies of each gene, one copy from the mother and one copy from the father. If the mother and father are both carriers for Congenital Myasthenic Syndrome, CHAT-Related, there is a 1 in 4, or 25%, chance in each pregnancy for both partners to pass on their CHAT gene mutations to the child, who will then have the disorder. Individuals found to carry more than one mutation for Congenital Myasthenic Syndrome, CHAT-Related should discuss their risk for having an affected child, and any potential effects to their own health, with their health care provider. There are a number of other forms of Congenital Myasthenic Syndrome, each caused by mutations in different genes. A person who is a carrier for Congenital Myasthenic Syndrome, CHAT-Related is not likely to have an increased risk of having children with these other forms. |
Congenital Myasthenic Syndrome, CHRNE-Related
|
CHRNE (NM_ 000080.3) |
Caucasian |
1 in 383 |
1 in 7641 |
>95% |
|
Roma - Southeastern European |
1 in 25 |
1 in 481 |
>95% |
General population |
1 in 408 |
1 in 8141 |
>95% |
What is Congenital Myasthenic Syndrome, CHRNE-Related?
Congenital Myasthenic Syndrome, CHRNE-Related is an inherited disorder that affects the muscles and is usually autosomal recessive but, in some late-onset cases, is autosomal dominant. Symptoms of muscle weakness (myasthenia) can begin after birth but may begin later in life. Affected infants and children often have feeding and swallowing problems, developmental delay, and at times may have breathing problems. Muscle weakness can worsen with exercise. Speech problems may occur due to facial muscle weakness. The weakness remains stable and does not worsen with age. The degree of muscle weakness varies among individuals affected with Congenital Myasthenic Syndrome, CHRNE-Related. Some individuals have later onset of symptoms that may include weakness of the neck, wrist, and fingers along with progressive breathing problems.
What causes Congenital Myasthenic Syndrome, CHRNE-Related?
Most cases of Congenital Myasthenic Syndrome, CHRNE-Related are caused by a change, or mutation, in both copies of the CHRNE gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CHRNE gene do not work correctly, the signals from the nerves to the muscles are disrupted, causing problems with movement of skeletal muscles, muscle weakness, and delayed development of motor skills.
Some cases of late-onset Congenital Myasthenic Syndrome, CHRNE-Related are inherited in an autosomal dominant manner. This means that a person who has a mutation in just one copy of the CHRNE gene will have symptoms of the late-onset form of this condition. |
Congenital Myasthenic Syndrome, CHRNE-Related
|
CHRNE (NM_000080.3) |
Caucasian |
1 in 383 |
1 in 38201 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Congenital Myasthenic Syndrome, CHRNE-Related
|
CHRNE (NM_000080.3) |
Caucasian |
1 in 383 |
1 in 7641 |
>95% |
|
Roma - Southeastern European |
1 in 25 |
1 in 481 |
>95% |
General population |
1 in 408 |
1 in 8141 |
>95% |
|
Congenital Myasthenic Syndrome, COLQ-Related
|
COLQ (NM_005677.3) |
General population |
1 in 430 |
1 in 42901 |
99% |
|
What is Congenital Myasthenic Syndrome, COLQ-Related? Congenital Myasthenic Syndrome, COLQ-Related (also called CMS5) is an inherited disorder that affects the muscles. Muscle weakness (myasthenia) typically begins shortly after birth along with poor muscle tone (hypotonia) and episodes of apnea (periodic stops in breathing). In some cases, symptoms may not begin until later in life. Affected infants and children often have feeding and swallowing problems, developmental delays, and breathing problems that include episodes of apnea that get worse during illness. Muscle weakness may worsen with exercise. Speech problems may occur due to facial muscle weakness. The degree of muscle weakness varies among individuals affected with Congenital Myasthenic Syndrome, COLQ-Related, but usually remains stable and does not worsen with age. Currently, there is no cure for this disorder and treatment is based on symptoms. What causes Congenital Myasthenic Syndrome, COLQ-Related? The majority of cases of Congenital Myasthenic Syndrome, COLQ-Related are caused by a change, or mutation, in both copies of the COLQ gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the COLQ gene do not work correctly, it leads to the symptoms described above. |
Congenital Myasthenic Syndrome, DOK7-Related
|
DOK7 (NM_173660.4) |
Caucasian |
1 in 290 |
1 in 28901 |
99% |
|
French Canadian |
1 in 353 |
1 in 35201 |
99% |
General population |
1 in 454 |
1 in 45301 |
99% |
What is Congenital Myasthenic Syndrome, DOK7-Related? Congenital Myasthenic Syndrome, DOK7-Related (also known as CMS10) is an inherited disorder that causes muscle weakness. The first symptoms of this disorder usually appear in infancy; although occasionally symptoms may not appear until late childhood, adolescence, or adulthood. The degree of muscle weakness varies from person to person but the muscles of upper arms, shoulders, thighs, and hips, neck, and face are typically affected. The muscle weakness may cause problems with holding up the head, opening and closing the eyes, chewing, and swallowing. Most children with this disorder have difficulty eating, delayed crawling and walking, and poor coordination. Some children with this condition have more severe muscle weakness and cannot walk on their own. Breathing problems, especially during illness, happen in some children and often worsen over time. There is also a rare form of this disorder called Fetal Akinesia Deformation Sequence (FADS), which has symptoms that include poor growth before and after birth, deformed joints (contractures), underdeveloped lungs, and other birth defects. FADS sometimes results in stillbirth or death shortly after birth. Currently there is no cure for Congenital Myasthenic Syndrome, DOK7-Related and treatment is based on symptoms. What causes Congenital Myasthenic Syndrome, DOK7-Related? Congenital Myasthenic Syndrome, DOK7-Related is caused by a gene change, or mutation, in both copies of the DOK7 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine which form of the disorder a specific mutation in the DOK7 gene will cause. Congenital Myasthenic Syndrome, DOK7-Related, is inherited in an autosomal recessive manner. This means that, in most cases, both parents must be carriers of a mutation in one copy of the DOK7 gene to have a child with Congenital Myasthenic Syndrome, DOK7-Related. People who are carriers for Congenital Myasthenic Syndrome, DOK7-Related are usually healthy and do not have symptoms, nor do they have the disorder themselves. Usually a child inherits two copies of each gene, one copy from the mother and one copy from the father. If the mother and father are both carriers for Congenital Myasthenic Syndrome, DOK7-Related there is a 1 in 4, or 25%, chance in each pregnancy for both partners to pass on their DOK7 gene mutations to the child, who will then have Congenital Myasthenic Syndrome, DOK7-Related. Individuals found to carry more than one mutation for Congenital Myasthenic Syndrome, DOK7-Related should discuss their risk for having an affected child, and any potential effects to their own health, with their health care provider. There are a number of other forms of Congenital Myasthenic Syndrome, each caused by mutations in different genes. A person who is a carrier for Congenital Myasthenic Syndrome, DOK7-Related is not likely to be at increased risk for having children with these other forms. |
Congenital Myasthenic Syndrome, RAPSN-Related
|
RAPSN (NM_005055.4) |
Caucasian |
1 in 176 |
1 in 3501 |
>95% |
|
General population |
1 in 252 |
1 in 5021 |
>95% |
Sephardic Jewish - Iraqi, Iranian |
< 1 in 500 |
1 in 49901 |
>99% |
|
Congenital Myasthenic Syndrome, RAPSN-Related
|
RAPSN (NM_ 005055.4) |
Caucasian |
1 in 176 |
1 in 3501 |
>95% |
|
Sephardic Jewish - Iraqi, Iranian |
unknown |
unknown |
>95% |
General population |
1 in 252 |
1 in 5021 |
>95% |
What is Congenital Myasthenic Syndrome, RAPSN-Related?
Congenital Myasthenic Syndrome, RAPSN-Related is an autosomal recessive disorder that causes muscle weakness that becomes worse during physical exercise. The first symptoms of this disorder usually appear shortly after birth. Occasionally, symptoms may not appear until late childhood, adolescence, or adulthood. The symptoms vary from person to person but the muscles of the face are almost always affected. This causes problems with holding up the head, opening and closing the eyes, chewing, and swallowing. Most children with this disorder have problems eating, delayed crawling and walking, and poor coordination. Some children with this condition have more severe muscle weakness and cannot walk. Breathing problems, especially during illness, happen in some children.
What causes Congenital Myasthenic Syndrome, RAPSN-Related?
Congenital Myasthenic Syndrome, RAPSN-Related is caused by a gene change, or mutation, in both copies of the RAPSN gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Myasthenic Syndrome, RAPSN-Related
|
RAPSN (NM_005055.4) |
Caucasian |
1 in 176 |
1 in 17501 |
99% |
|
General population |
1 in 252 |
1 in 25101 |
99% |
Sephardic Jewish - Iraqi, Iranian |
< 1 in 500 |
1 in 49901 |
99% |
|
Congenital Nephrotic Syndrome, PLCE1-Related
|
PLCE1 (NM_016341.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Congenital Nephrotic Syndrome, PLCE1-Related? Congenital Nephrotic Syndrome, PLCE1-Related (also known as Nephrotic Syndrome, Type3) is an inherited disorder that causes abnormal kidney function. Symptoms usually start shortly after birth or in infancy. Babies with this condition have large amounts of protein in their urine, low amounts of albumin (a protein in the plasma of the blood) and high levels of fat in the blood, and excess fluid in body tissues (edema). Anemia, poor blood clotting, and increased numbers of infections may occur in some babies. The kidney problems worsen over time, often leading to kidney failure in early childhood; although with careful treatment, kidney failure may not occur until the teenage years or early adulthood. Once kidney failure occurs, dialysis and then kidney transplantation are needed. Currently there is no cure for this condition and treatment is based on symptoms. What causes Congenital Nephrotic Syndrome, PLCE1-Related? Congenital Nephrotic Syndrome, PLCE1-Related is caused by a gene change, or mutation, in both copies of the PLCE1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Congenital Neutropenia, G6Pc3-Related
|
G6PC3 (NM_138387.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Congenital Neutropenia, HAX1-Related
|
HAX1 (NM_006118.3) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
|
Congenital Neutropenia, HAX1-Related
|
HAX1 (NM_006118.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Congenital Neutropenia, HAX1-Related
|
HAX1 (NM_ 006118.3) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
What is Congenital Neutropenia, HAX1-Related?
Congenital Neutropenia, HAX1-Related is an autosomal recessive disorder that causes low levels of immune cells called neutrophils (a type of white blood cell). This causes problems with immune system function. Affected individuals have symptoms beginning in infancy with frequent bacterial infections. Over time, there is an increased risk of developing blood cancers. In addition, some affected children have intellectual disability, developmental delay, and seizures. Early death due to infection may occur in some children. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Congenital Neutropenia, HAX1-Related?
Congenital Neutropenia, HAX1-Related is caused by a gene change, or mutation, in both copies of the HAX1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the HAX1 gene do not work correctly, it causes early death of neutrophils, leading to low levels in the bloodstream. This leads to the symptoms described above. |
Congenital Neutropenia, VPS45-Related
|
VPS45 (NM_ 001279353.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Congenital Neutropenia, VPS45-Related?
Congenital Neutropenia, VPS45-Related is an autosomal recessive disorder that causes low levels of immune cells called neutrophils (a type of white blood cell). This causes problems with immune system function. Affected individuals have symptoms beginning in infancy with frequent bacterial infections. Over time, there is an increased risk of developing blood cancers. In addition, some affected children have developmental delay. Early death due to infection may occur in some children. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Congenital Neutropenia, VPS45-Related?
Congenital Neutropenia, VPS45-Related is caused by a gene change, or mutation, in both copies of the VPS45 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the VPS45 gene do not work correctly, the neutrophils that are produced either do not function properly or die off prematurely, leading to low levels in the bloodstream. This causes the symptoms described above. |
Congenital Neutropenia, VPS45-Related
|
VPS45 (NM_001279353.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Congenital Neutropenia, VPS45-Related
|
VPS45 (NM_007259.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Congenital Secretory Chloride Diarrhea 1
|
SLC26A3 (NM_000111.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Congential Disorder of Glycosylation, Type IA
|
PMM2 (NM_000303.2) |
Ashkenazi Jewish |
1 in 61 |
1 in 1201 |
>95% |
|
Asian |
1 in 449 |
1 in 8961 |
>95% |
Caucasian |
1 in 42 |
1 in 821 |
>95% |
General population |
1 in 124 |
1 in 2461 |
>95% |
|
Corneal Dystrophy and Perceptive Deafness
|
SLC4A11 (NM_032034.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Corneal Dystrophy and Perceptive Deafness
|
SLC4A11 (NM_ 032034.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Corneal Dystrophy and Perceptive Deafness?
Corneal Dystrophy and Perceptive Deafness is an autosomal recessive disorder that causes eye abnormalities and vision and hearing loss. Symptoms usually begin in later childhood or adulthood. The eye problems involve worsening buildup of substances in the cornea (outer layer) of the eye, leading to vision loss. Hearing loss usually begins in childhood and worsens with age. Corneal Dystrophy and Perceptive Deafness is also called Harboyan Syndrome.
A different form of this condition, called Corneal Dystrophy, Endothelial 2 is caused by changes in the same gene and has symptoms that are present at birth. Corneal Dystrophy, Endothelial 2 causes thickening and clouding of the cornea leading to blurred vision and nystagmus (rapid, jittery eye movements) and sometimes causes hearing loss. Currently there is no cure for these conditions and treatment is based on symptoms.
What causes Corneal Dystrophy and Perceptive Deafness?
Both Corneal Dystrophy and Perceptive Deafness and Corneal Dystrophy, Endothelial 2 are caused by a gene change, or mutation, in both copies of the SLC4A11 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the gene do not work correctly, it leads to either Corneal Dystrophy and Perceptive Deafness or Corneal Dystrophy, Endothelial 2 . |
Corneal Dystrophy and Perceptive Deafness Syndrome
|
SLC4A11 (NM_032034.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Corticosterone Methyloxidase Deficiency
|
CYP11B2 (NM_000498.3) |
General population |
< 1 in 500 |
1 in 1783 |
72% |
|
Sephardic Jewish - Iranian |
1 in 30 |
1 in 581 |
>95% |
|
Corticosterone Methyloxidase Deficiency
|
CYP11B2 (NM_ 000498.3) |
Sephardic Jewish - Iranian |
1 in 30 |
1 in 581 |
>95% |
|
General population |
< 1 in 500 |
1 in 1783 |
72% |
What is Corticosterone Methyloxidase Deficiency?
Corticosterone Methyloxidase Deficiency, also called Aldosterone Synthase Deficiency, is an autosomal recessive disorder that causes too much sodium to be excreted in the urine. This leads to decreased levels of sodium and increased levels of potassium in the blood. Symptoms begin shortly after birth and include poor feeding, nausea, vomiting, fatigue, low blood pressure, muscle weakness, and dehydration. Severe forms of this disorder may lead to metabolic acidosis, where the blood becomes too acidic. Metabolic acidosis can cause seizures and coma, which may be life-threatening. This condition is treated with hormone replacement therapy. Most people with this condition who survive the newborn period have mild or no symptoms in adulthood.
Very rarely a specific mutation in the same gene causes a separate disorder called Familial Hyperaldosteronism which is inherited in an autosomal dominant manner. In this disorder, the body makes too much aldosterone, a hormone made by the adrenal gland, which causes severe high blood pressure (hypertension). If not treated, there is an increased risk for stroke, heart disease, and kidney failure. It is usually possible to tell whether a specific gene mutation will cause Corticosterone Methyloxidase Deficiency or Familial Hyperaldosteronism.
What causes Corticosterone Methyloxidase Deficiency?
Corticosterone Methyloxidase Deficiency is caused by a gene change, or mutation, in both copies of the CYP11B2 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the CYP11B2 gene pair is needed to make a hormone called aldosterone which regulates salt balance in the body. When both copies of the CYP11B2 gene do not work correctly, it leads to the symptoms described above.
Familial Hyperaldosteronism (FH) is autosomal dominant. A person with an FH-causing mutation in one copy of the CYP11B2 gene pair is affected with the disorder. |
Corticosterone Methyloxidase Deficiency
|
CYP11B2 (NM_000498.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Iranian |
1 in 30 |
1 in 2901 |
99% |
|
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)
|
OPA3 (NM_ 025136.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Iraqi |
1 in 13 |
1 in 1201 |
99% |
|
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)
|
OPA3 (NM_ 025136.3) |
Sephardic Jewish - Iraqi |
1 in 13 |
1 in 241 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)?
Costeff Syndrome (also known as 3-Methylglutaconic Aciduria, Type 3) is an autosomal recessive disorder that causes vision loss, jerky movements called chorea, muscle stiffness and, in some people, mild intellectual disability. Vision loss caused by breakdown, or atrophy, of the optic nerve often starts in childhood and worsens over time. Problems with muscle control and movement start later in childhood and worsen over time, sometimes leading to wheelchair use. High levels of 3-methylglutaconic acid are found in the urine of people with this condition. This does not cause the health problems seen in Costeff Syndrome but can help diagnose the condition. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Costeff Syndrome?
Costeff Syndrome is caused by a gene change, or mutation, in both copies of the OPA3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the OPA3 gene do not work correctly, it leads to the symptoms described above.
Very rarely, a mutation in the same gene causes a related disorder called Autosomal Dominant Optic Atrophy and Cataract. People with this disorder have progressive vision loss in both eyes due to atrophy of the optic nerves and clouding of the lens of the eye. The vision loss can start in childhood or early adulthood. |
|
AIFM1 (NM_004208.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Cowchock Syndrome? Cowchock Syndrome, also called Charcot-Marie-Tooth Disease, X-Linked 4 (CMTX4), is an inherited disorder that affects mainly males. Cowchock Syndrome affects the nerves and muscles and causes progressive nerve damage called peripheral neuropathy. This nerve damage leads to muscle weakness, poor coordination and balance, nerve pain, numbness or lack of feeling to touch and vibration, and decreased ability to feel temperature changes. As the disease progresses, people with Cowchock Syndrome can have problems with muscle weakness in the limbs, coordination, walking, and speech. Weakness of the feet and ankles and a foot deformity known as pes cavus (high arched foot) is common. Some boys with Cowchock Syndrome have intellectual disability and some have sensorineural (nerve-related) deafness. Lifespan is typically not affected. Occasionally, mutations in the same gene cause a related disorder - either Deafness, X-Linked 5 (DFNX5) or Combined Oxidative Phosphorylation Deficiency 6 (COXPD6). DFNX5 causes mild to severe hearing loss in early childhood and peripheral neuropathy that usually starts later in life. Both the hearing loss and neuropathy tend to progress slowly over time. COXPD6 causes problems with the mitochondria, the energy producers in our cells. Symptoms of COXPD6 include severe developmental delay and regression of skills over time, weak muscles and muscle tone (hypotonia), lack of reflexes, tremors, seizures, and breathing problems that often lead to death before the age of 2. Currently there is no cure for any of these disorders and treatment is based on symptoms. The information below is about Cowchock Syndrome; however, the inheritance pattern and reproductive options also apply to DFNX5 and COXPD6. What causes Cowchock Syndrome? Cowchock Syndrome is caused by a change, or mutation, in the AIFM1 gene. When the AIFM1 gene is not working properly in a male, it leads to the symptoms described above. |
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)
|
SLC6A8 (NM_ 005629.3) |
General population |
< 1 in 410000 |
1 in 40999901 |
99% |
|
|
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)
|
SLC6A8 (NM_ 005629.3) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
What is Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)?
Creatine Transporter Defect (also known as Cerebral Creatine Deficiency Syndrome 1 or X-linked Creatine Deficiency) is an X-linked disorder that affects mainly males and causes intellectual disability, behavior problems, seizures, and muscle weakness. Affected males have symptoms beginning in infancy that include small head size, development and growth delays, characteristic facial features, digestive problems, and poor muscle tone. Currently there is no cure for this condition and treatment is based on symptoms.
Female carriers of Creatine Transporter Defect may have some degree of intellectual disability and behavior problems.
What causes Creatine Transporter Defect?
Creatine Transporter Defect is caused by a change, or mutation, in the SLC6A8 gene. This mutation causes the gene to not work properly or not work at all. People with this disorder do not make a protein needed to allow creatine, a substance that is required for the body to store and use energy, into a cell. Parts of the body that require a lot of energy, such as the brain, are affected when there is not enough creatine available. |
Creatine Transporter Defect, SLC6A8-Related, X-Linked
|
SLC6A8 (NM_005629.3) |
General population |
< 1 in 410000 |
1 in 683000 |
94% |
|
|
Cystic Fibrosis
|
CFTR (NM_000492.3) |
African American |
1 in 61 |
1 in 1201 |
>95% |
|
Ashkenazi Jewish |
1 in 24 |
1 in 461 |
>95% |
Asian |
1 in 94 |
1 in 1861 |
>95% |
Caucasian |
1 in 25 |
1 in 481 |
>95% |
General population |
1 in 45 |
1 in 881 |
>95% |
Hispanic |
1 in 58 |
1 in 1141 |
>95% |
|
|
CFTR (NM_ 000492.3) |
African American |
1 in 61 |
1 in 1201 |
>95% |
|
Ashkenazi Jewish |
1 in 24 |
1 in 461 |
>95% |
Asian |
1 in 94 |
1 in 1861 |
>95% |
Caucasian |
1 in 25 |
1 in 481 |
>95% |
Hispanic |
1 in 58 |
1 in 1141 |
>95% |
General population |
1 in 45 |
1 in 881 |
>95% |
What is Cystic Fibrosis?
Cystic Fibrosis is an autosomal recessive disorder that affects many different areas of the body including the lungs, digestive system, and fertility. Cystic Fibrosis does not affect intelligence. Signs and symptoms of Cystic Fibrosis start in early childhood and include delayed growth caused by problems in digestion and repeated lung infections that lead to permanent lung damage. Children and adults with Cystic Fibrosis usually have frequent hospitalizations because of lung infections. Over time, complications of Cystic Fibrosis can lead to lung transplants and early death. There are treatments for Cystic Fibrosis that can lessen the severity of the symptoms; however, there is currently no cure.
What causes Cystic Fibrosis?
Cystic Fibrosis is caused by a change, or mutation, in both copies of the CFTR gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, mucus and other body fluids become thick and sticky. This causes problems with how the lungs, digestive system, and other body systems function and leads to the symptoms described above.
Although most CFTR gene mutations cause classic CF, there are some specific CFTR mutations that cause less severe symptoms, and some only affect male fertility. A small number of CF carriers may have mild respiratory or other symptoms. |
Cystic Fibrosis
|
CFTR (NM_000492.3) |
African American |
1 in 61 |
1 in 6001 |
99% |
|
Ashkenazi Jewish |
1 in 24 |
1 in 2301 |
99% |
Caucasian |
1 in 25 |
1 in 2401 |
99% |
East Asian |
1 in 94 |
1 in 9301 |
99% |
General population |
1 in 45 |
1 in 4401 |
99% |
Hispanic |
1 in 58 |
1 in 5701 |
99% |
|
Cystinosis
|
CTNS (NM_004937.2) |
African American |
< 1 in 500 |
1 in 49901 |
99% |
|
Asian |
< 1 in 500 |
1 in 49901 |
99% |
Caucasian |
1 in 220 |
1 in 21901 |
99% |
French Canadian - Saguenay Lac-St. Jean |
1 in 39 |
1 in 3801 |
99% |
General population |
1 in 158 |
1 in 15701 |
99% |
Hispanic |
< 1 in 500 |
1 in 49901 |
99% |
Sephardic Jewish - Moroccan |
1 in 100 |
1 in 9901 |
99% |
|
|
CTNS (NM_ 004937.2) |
African American |
< 1 in 500 |
1 in 9981 |
>95% |
|
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 220 |
1 in 2191 |
90% |
French Canadian - Saguenay Lac-St. Jean |
1 in 39 |
1 in 381 |
90% |
Hispanic |
< 1 in 500 |
1 in 1997 |
75% |
Sephardic Jewish - Moroccan |
1 in 100 |
1 in 1981 |
>95% |
General population |
1 in 224 |
1 in 4461 |
>95% |
What is Cystinosis?
Cystinosis is an autosomal recessive disorder that causes the amino acid cysteine, one of the building blocks of protein, to build up in cells of the body. The excess cysteine forms crystals which can damage tissues and organs in the body. Damage to the kidneys and eyes occurs most often, but damage to the muscles, thyroid, pancreas, and testes may also occur. There are three forms of Cystinosis that have symptoms which range from mild to severe. The most severe form, called Nephropathic Cystinosis, starts shortly after birth. Symptoms include poor growth and a kidney disorder that leads to loss of minerals and nutrients in the urine. Cysteine crystals also build up in the eyes, causing sensitivity to light, eye pain, and vision loss. Symptoms also include loss of muscle mass, difficulty swallowing, diabetes, thyroid and nervous system problems. The childhood-onset form starts later but shows the same type of symptoms. There is also a milder form that causes eye problems but usually does not cause kidney damage. Medical treatment can lessen or delay some of symptoms of Cystinosis. Without treatment, children with Cystinosis may develop kidney failure by age 10 and need a kidney transplant.
What causes Cystinosis?
Cystinosis is caused by a gene change, or mutation, in both copies of the CTNS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Cystinosis
|
CTNS (NM_004937.2) |
African American |
< 1 in 500 |
1 in 9981 |
>95% |
|
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 220 |
1 in 2191 |
90% |
French Canadian - Saguenay Lac-St. Jean |
1 in 39 |
1 in 381 |
90% |
General population |
1 in 224 |
1 in 4461 |
>95% |
Hispanic |
< 1 in 500 |
1 in 1997 |
75% |
Sephardic Jewish - Moroccan |
1 in 100 |
1 in 1981 |
>95% |
|
Cytochrome C Oxidase Deficiency, PET100-Related
|
PET100 (NM_001171155.1) |
General population |
1 in 452 |
1 in 45101 |
99% |
|
What is Cytochrome C Oxidase Deficiency, PET100-Related? Cytochrome C Oxidase Deficiency, PET100-Related (also called Mitochondrial Complex IV Deficiency) is an inherited disorder that affects many different areas of the body including the brain, the heart, the liver, and the muscles. Signs and symptoms of Cytochrome C Oxidase Deficiency, PET100-Related typically start before age 2 but can appear later in life. Symptoms may vary from mild to severe. The milder, later-onset form may include muscle weakness (myopathy) and poor muscle tone (hypotonia) only. More severely affected infants and children may have serious problems with brain function (encephalomyopathy), heart disease (hypertrophic cardiomyopathy), kidney disease, enlarged liver, and liver failure. Most children with Cytochrome C Oxidase Deficiency, PET100-Related develop high levels of lactic acid in their blood, which can be life-threatening. Some affected infants have an additional group of symptoms called Leigh Syndrome. The features of Leigh Syndrome include worsening brain problems with loss of skills and cognitive abilities, loss of movement, heart disease, and feeding and breathing problems. Babies with the Leigh Syndrome form of Cytochrome C Oxidase Deficiency, PET100-Related often die before age 3. Life span is reduced for children with more severe symptoms; however, some individuals with mild disease can live into adulthood. Currently, there is no cure for Cytochrome C Oxidase Deficiency, PET100-Related and treatment is based on symptoms. What causes Cytochrome C Oxidase Deficiency, PET100-Related? Cytochrome C Oxidase Deficiency, PET100-Related is caused by changes, or mutations, in both copies of the PET100 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the PET100 gene are not working correctly, it leads to the symptoms described above. |
Cytochrome P450 Oxioreductase Deficiency
|
POR (NM_000941.2) |
General population |
1 in 158 |
1 in 15700 |
99% |
|
|
D-Bifunctional Protein Deficiency
|
HSD17B4 (NM_000414.3) |
General population |
< 1 in 500 |
1 in 3839 |
87% |
|
|
D-Bifunctional Protein Deficiency
|
HSD17B4 (NM_ 000414.3) |
General population |
< 1 in 500 |
1 in 3839 |
87% |
|
What is D-Bifunctional Protein Deficiency?
D-Bifunctional Protein Deficiency is an autosomal recessive disorder in which the body cannot break down certain building blocks of fat called ‘fatty acids’. This leads to the buildup of fatty acids in the blood and organs that then cause damage to many parts of the body, especially the brain and nervous system. Signs and symptoms begin in infancy and include large head size, distinct facial features, feeding problems, poor muscle tone, vision and hearing loss, liver and kidney disease, seizures, severe developmental delay, and bone abnormalities. There is no cure for this disorder and death usually occurs before two years of age. Rarely, a child with this condition may start having symptoms at a later age leading to loss of skills and death later in childhood.
Very rarely, mutations in the same gene cause a different disorder called Perrault Syndrome. Symptoms of Perrault Syndrome include hearing loss starting at birth or early childhood that worsens over time and, in females, missing or non-working ovaries with infertility. Some people with this condition also have learning difficulties, problems with coordination and walking, and loss of sensation in the arms and legs.
What causes D-Bifunctional Protein Deficiency?
D-Bifunctional Protein Deficiency is caused by a gene change, or mutation, in both copies of the HSD17B4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
D-Bifunctional Protein Deficiency
|
HSD17B4 (NM_000414.3) |
General population |
< 1 in 158 |
1 in 15701 |
99% |
|
|
Deafness, Autosomal Recessive 77
|
LOXHD1 (NM_144612.6) |
Ashkenazi Jewish |
1 in 180 |
1 in 17901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Deafness, Autosomal Recessive 77
|
LOXHD1 (NM_ 144612.6) |
Ashkenazi Jewish |
1 in 180 |
1 in 3581 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Deafness, Autosomal Recessive 77?
Deafness, Autosomal Recessive 77 is an autosomal recessive disorder that affects hearing. Affected individuals usually develop hearing loss beginning in childhood. The hearing loss worsens with age. This condition does not cause other health problems.
What causes Deafness, Autosomal Recessive 77?
Deafness, Autosomal Recessive 77 is caused by a change, or mutation, in both copies of the LOXHD1 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the LOXHD1 genes is important for hearing. When both copies of the LOXHD1 gene do not work correctly, progressive hearing loss occurs. |
Deafness, Autosomal Recessive 77
|
LOXHD1 (NM_144612.6) |
Ashkenazi Jewish |
1 in 180 |
1 in 3581 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
CLCN5 (NM_000084.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Dent Disease, Type 1? Dent Disease, Type 1 is an inherited disorder that causes kidney problems and affects mainly males. The kidney problems in males with Dent Disease, Type 1 usually start in childhood and get worse over time. Initial signs and symptoms include excess protein and calcium in the urine and kidney stones which can be very painful. Eventually, the kidneys stop working and dialysis followed by kidney transplantation is then needed. Some males with Dent Disease, Type 1, also have rickets - weak and soft bones and bowed legs - which cause pain and problems walking. Currently there is no cure for this condition and treatment is based on symptoms. What causes Dent Disease, Type 1? Dent Disease, Type 1 is caused by a change, or mutation, in the CLCN5 gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly it leads to the symptoms described above. |
Dent Disease, Type 2 / Lowe Syndrome
|
OCRL (NM_000276.3) |
General population |
1 in 25000 |
1 in 2499901 |
99% |
|
What is Dent Disease, Type 2/Lowe Syndrome? Dent Disease, Type 2 and Lowe Syndrome are related inherited disorders that cause kidney problems and mainly affect males. The kidney problems in males with Dent Disease, Type 2 usually start in childhood and get worse over time. Initial signs and symptoms include excess protein and calcium in the urine, and kidney stones which can be very painful. Eventually, the kidneys stop working and dialysis followed by kidney transplantation is then needed. Some males with Dent Disease, Type 2, also have rickets - weak and soft bones and bowed legs - which cause pain and problems walking. Additional symptoms of Dent Disease, Type 2 include mild intellectual disability, weak muscle tone (hypotonia), and cataracts that usually don't cause vision problems. Sometimes more severe symptoms are present and the condition is called Lowe Syndrome. Symptoms found in Lowe Syndrome include vision loss from birth caused by cataracts and glaucoma, more severe intellectual disability and hypotonia, and earlier kidney failure. Currently there is no cure for either form of this condition and treatment is based on symptoms. What causes Dent Disease, Type 2/Lowe Syndrome? Dent Disease, Type 2 and Lowe Syndrome are caused by a change, or mutation, in the OCRL gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly it leads to the symptoms described above. |
Developmental And Eplileptic Encephalopathy 36
|
ALG13 (NM_001099922.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Dihydrolipoamide Dehydrogenase Deficiency
|
DLD (NM_000108.4) |
Ashkenazi Jewish |
1 in 107 |
1 in 2121 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Dihydropteridine Reductase (Dhpr) Deficiency
|
QDPR (NM_000320.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
DPYD (NM_000110.3) |
East Asian |
1 in 50 |
1 in 4901 |
99% |
|
General population |
1 in 20 |
1 in 1901 |
99% |
What is Dihydropyrimidine Dehydrogenase Deficiency? Dihydropyrimidine Dehydrogenase Deficiency (also called DPYD Deficiency) is an inherited disorder of the nervous system. The symptoms vary widely from person to person with some having severe neurological problems and some having no symptoms at all. The most severe form of Dihydropyrimidine Dehydrogenase Deficiency starts in infancy with symptoms that can include seizures, intellectual disability, small head and brain size (microcephaly), increased muscle tone (hypertonia), delayed development, autistic-like behavior problems, and other health issues. Some affected individuals never have symptoms. All individuals with Dihydropyrimidine Dehydrogenase Deficiency, including those without any of the nervous system symptoms described above, may have life-threatening reactions to certain medications called fluoropyrimidines (including 5-fluorouracil and capecitabine) which are used for cancer treatment. These medications should be avoided. Currently there is no cure for this condition and treatment is based on symptoms. What causes Dihydropyrimidine Dehydrogenase Deficiency? Dihydropyrimidine Dehydrogenase Deficiency is caused by a gene change, or mutation, in both copies of the DPYD gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
LRP2 (NM_004525.3) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is Donnai-Barrow syndrome? Donnai-Barrow syndrome is an inherited condition that affects many parts of the body. Symptoms vary from person to person. Certain facial features are common including wide-set eyes that slant downward at the corners, a short, thick nose with a flat bridge, ears that rotate backwards, and a widow’s peak. Severe hearing loss (sensorineural) occurs in almost everyone with this condition and starts in infancy or childhood. Vision problems that progress with time are also common and may include extreme nearsightedness or detached retina. Children with Donnai-Barrow syndrome typically have mild-to-moderate developmental delay and intellectual disability. Most people with this condition have changes to the structure of the brain, the most common being absence or underdevelopment of the corpus callosum (the connection between the two halves of the brain). Other birth defects and health problems are seen in some people with Donnai-Barrow syndrome. Close to half of affected babies are born with a hole in the diaphragm (diaphragmatic hernia) that can be life-threatening and needs surgery. Close to half have a birth defect in the navel (omphalocele) which also needs surgery to repair. Some babies with Donnai-Barrow syndrome are born with birth defects of the intestines, heart, or other organs. Some people with Donnai-Barrow syndrome have kidney problems that may include protein in the urine, kidney stones, or, rarely, more serious kidney disease. Currently there is no cure for Donnai-Barrow syndrome and treatment is based on the symptoms. What causes Donnai-Barrow syndrome? Donnai-Barrow syndrome is caused by a gene change, or mutation, in both copies of the LRP2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Dubin-Johnson Syndrome
|
ABCC2 (NM_000392.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Duchenne/Becker Muscular Dystrophy
|
DMD (NM_ 004006.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Duchenne/Becker Muscular Dystrophy?
Duchenne and Becker Muscular Dystrophy are inherited disorders called “Dystrophinopathies” that cause progressive breakdown and weakness of both skeletal and heart muscle. In Duchenne Muscular Dystrophy, the muscle weakness usually begins around 3 to 5 years of age and worsens over time. By the teenage years, the muscle degeneration and weakness also starts to involve the muscles of the lungs and heart. In Becker Muscular Dystrophy, the signs and symptoms are milder and begin later in childhood. For both conditions, it is more common for boys to be affected than girls. Children and adults with Duchenne/Becker Muscular Dystrophy need physical and occupational therapy and lifelong medical treatment. Most boys with Duchenne Muscular Dystrophy will need a wheelchair by their mid to late teenage years; boys with Becker Muscular Dystrophy are often in their late teens or early adulthood before they need a wheelchair. A variable degree of intellectual disability may occur and is more common in children with Duchenne than in children with Becker. Presently there is no cure for Duchenne/Becker Muscular Dystrophy. With current medical treatments, survival is common into the 20s and 30s with Duchenne Muscular Dystrophy and into the 40s with Becker Muscular Dystrophy. Some males have a separate form of Dystrophinopathy called DMD-Associated Dilated Cardiomyopathy, which does not include skeletal muscle weakness. DMD-Associated Dilated Cardiomyopathy causes progressive heart problems where one or more chambers of the heart dilate, the heart muscle weakens, and congestive heart failure occurs. Symptoms typically start between the ages of 20 and 40 years and lifespan is shortened. About 1 in every 3500 males is born with Duchenne Muscular Dystrophy and about 1 in every 18,500 boys is born with Becker Muscular Dystrophy. DMD-Associated Dilated Cardiomyopathy is rare.
Some female carriers develop heart problems such as dilated cardiomyopathy and some have other symptoms of Duchenne/Becker Muscular Dystrophy such as mild to moderate muscle weakness. In rare cases, female carriers may have more serious symptoms.
What causes Duchenne/Becker Muscular Dystrophy?
Duchenne/Becker Muscular Dystrophy is caused by a change, or mutation, in the DMD gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly, it leads to a lack of dystrophin, a protein normally found in muscle cells. Muscle cells in the skeleton and heart that don’t have enough dystrophin gradually stop working, leading to the symptoms described above. It is sometimes but not always possible to tell just by the mutation whether a boy will have the Duchenne or Becker form of this condition. |
Duchenne/Becker Muscular Dystrophy
|
DMD (NM_004006.2) |
General population |
1 in 4200 |
1 in 419901 |
99% |
|
|
Duchenne/Becker Muscular Dystrophy, X-Linked
|
DMD (NM_004006.2) |
General population |
1in 4200 |
1 in 84000 |
>95% |
|
|
Dyskeratosis Congenita Spectrum Disorders
|
TERT (NM_198253.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Dyskeratosis Congenita, DKC1-Related
|
DKC1 (NM_001363.4) |
General population |
<1 in 750000 |
1 in 74999901 |
99% |
|
What is Dyskeratosis Congenita, DKC1-Related? Dyskeratosis Congenita, DKC1-Related is an inherited disorder that affects the skin, bone marrow, and immune system and is found mainly in males. Signs and symptoms vary from person to person but often include immune system problems, increased pigment (color), in the skin, abnormalities of the nails, and white spots or patches on the insides of the mouth called oral leukoplakia. Other symptoms may include developmental delay, anemia, bone marrow failure, and heart, lung, and/or liver complications. People with this condition are also at increased risk for developing leukemia or other cancers. In some cases, affected individuals have been treated with or participated in clinical trials using stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Dyskeratosis Congenita, DKC1-Related? Dyskeratosis Congenita, DKC1-Related is caused by a change, or mutation, in the DKC1 gene. This mutation causes the gene to not work properly or not work at all. When the DKC1 gene is not working correctly in a male, it leads to the symptoms described above. |
Dyskeratosis Congenita, RTEL1-Related
|
RTEL1 (NM_032957.4; NM_001283009.1) |
Ashkenazi Jewish |
1 in 165 |
1 in 3281 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Dyskeratosis Congenita, RTEL1-Related
|
RTEL1 (NM_ 032957.4; NM_ 001283009.1) |
Ashkenazi Jewish |
1 in 165 |
1 in 3281 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Dyskeratosis Congenita, RTEL1-Related?
Dyskeratosis Congenita, RTEL1-Related (also called Dyskeratosis Congenita, Autosomal Recessive 5) is an autosomal recessive disorder that affects mainly the skin, bone marrow, and immune system. Signs and symptoms vary from person to person but often include immune system problems, increased pigment in the skin, abnormalities of the nails, and white patches on the insides of the mouth called oral leukoplakia. Other symptoms may include developmental delay, anemia, bone marrow failure, and heart, lung, and liver complications. People with this condition are at increased risk for developing leukemia or other cancers. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Dyskeratosis Congenita, RTEL1-Related?
Dyskeratosis Congenita, RTEL1-Related is caused by a gene change, or mutation in both copies of the RTEL1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the RTEL1 gene do not work correctly, it leads to the symptoms described above. |
Dyskeratosis Congenita, RTEL1-Related
|
RTEL1 (NM_032957.4) |
Ashkenazi Jewish |
1 in 165 |
1 in 16401 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Dystrophic Epidermolysis Bullosa, COL7A1-Related
|
COL7A1 (NM_000094.3) |
General population |
1 in 370 |
1 in 36901 |
99% |
|
|
Dystrophic Epidermolysis Bullosa, COL7A1-Related
|
COL7A1 (NM_000094.3) |
General population |
1 in 370 |
1 in 7381 |
>95% |
|
|
Dystrophic Epidermolysis Bullosa, COL7A1-Related
|
COL7A1 (NM_ 000094.3) |
General population |
1 in 370 |
1 in 7381 |
>95% |
|
What is Dystrophic Epidermolysis Bullosa, COL7A1-Related?
Dystrophic Epidermolysis Bullosa, COL7A1-Related is an inherited disorder that has two forms, autosomal recessive and autosomal dominant. The autosomal recessive form causes severe repeated blistering of the skin and mucous membranes. Blisters are usually present at birth or start forming shortly after birth. Blisters may form anywhere on the body but are found most often on the hands and feet. Blisters may also occur on internal organs, such as the esophagus, stomach, and respiratory tract. When the blisters heal, they form scars that can cause problems with hand and limb movements, eating and digesting food, and vision. Infection, malnutrition, and dehydration may cause death in some infants. Children who survive are at increased risk of developing a type of skin cancer called squamous cell carcinoma. Carriers of the autosomal recessive form of this disorder are not expected to have symptoms. The other form of Dystrophic Epidermolysis Bullosa, COL7A1-Related is inherited in an autosomal dominant manner and is typically milder. In the autosomal dominant form, nails may be absent or small. Blistering may be limited to the hands, feet, knees, and elbows, and may improve with age, although scars may be permanent. Growth is typically normal and risk of squamous cell cancer may be increased slightly or not at all.
What causes Dystrophic Epidermolysis Bullosa, COL7A1-Related?
Dystrophic Epidermolysis Bullosa, COL7A1-Related with autosomal recessive inheritance is caused by a gene change, or mutation, in both copies of the COL7A1 gene. These mutations cause the genes to not work properly or not work at all. When both copies of the COL7A1 gene pair are not working correctly, it leads to the symptoms of the autosomal recessive form described above.
Mutations in the same gene (COL7A1) sometimes cause a milder form of the condition inherited in an autosomal dominant manner. Individuals with a mutation in one COL7A1 gene are affected and have symptoms of Dystrophic Epidermolysis Bullosa, COL7A1-Related although they are usually milder than the autosomal recessive form |
|
ERCC6 (NM_000124.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is ERCC6-Related Disorders? ERCC6-Related Disorders are a group of related inherited disorders that cause extreme sensitivity to ultraviolet (UV) rays from sunlight. For affected individuals, even a short time in the sun can cause sunburn which can include blisters and peeling skin as well. The more severe of the ERCC6-Related Disorders is called Cockayne Syndrome, Type B. Symptoms vary from person to person and can range from severe symptoms that start before birth to milder symptoms that don't occur until later childhood. Along with the sensitivity to sunlight, children with early-onset Cockayne Syndrome, Type B often have a small head and brain (microcephaly), slow growth, very short stature, developmental delays, and intellectual disability that tends to worsen over time. Some affected children also have large numbers of cavities and other teeth problems, bone changes, coordination and balance problems (ataxia), stiff muscles (spasticity), numbness and pain in the limbs (peripheral neuropathy), kidney problems, and vision and/or hearing loss. Individuals with Cockayne Syndrome, Type B may develop liver failure if they take a specific antibiotic called Metronidazole, so this medication should be avoided. Children with early-onset severe symptoms often have shortened life spans. The most severe form of Cockayne Syndrome, Type B is sometimes called Cerebro-oculo-facio-skeletal (COFS) Syndrome 1 and has signs and symptoms that start before birth. Symptoms of COFS Syndrome 1 include very low birth weight and length, small head and brain (microcephaly), severe developmental delays and intellectual disability, cataracts and other eye abnormalities. Symptoms that develop after birth include lack of growth, joint abnormalities (contractures and arthrogryposis) and curvature of the spine (scoliosis and kyphosis). These problems worsen with time and death often occurs before age 5. Children with symptoms that start after the age of 2 tend to have fewer symptoms that are typically less severe. Symptoms of this later-onset form of Cockayne Syndrome, Type B often include sensitivity to sunlight, short stature, ataxia that worsens with time, peripheral neuropathy, and mild cognitive disabilities that worsen over time. Another ERCC6-Related Disorder, called UV-Sensitive Syndrome 1, is less common. UV-Sensitive Syndrome 1 causes sensitivity to the UV rays in sunlight, with the same risks of severe sunburn with limited sun exposure, but does not have the other symptoms seen in Cockayne Syndrome, Type B. Individuals with UV-Sensitive Syndrome 1 may have dry skin and freckles and other patchy color changes on the skin after sun exposure. Some also have groupings of blood vessels that show through the skin (telangiectasia) which occur most often on the cheeks and nose. Currently there is no cure for ERCC6-Related Disorders and treatment is based on symptoms. All affected individuals should avoid sunlight and never take the medication Metronidazole. What causes ERCC6-Related Disorders? ERCC6-Related Disorders are caused by a change, or mutation, in both copies of the ERCC6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ERCC6 gene do not work correctly, it leads to the symptoms of one of the related disorders described above. |
|
ERCC8 (NM_000082.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is ERCC8-Related Disorders? ERCC8-Related Disorders are related inherited disorders that cause extreme sensitivity to ultraviolet (UV) rays from sunlight. For affected individuals, even a short time in the sun can cause sunburn which can include blisters and peeling skin as well. The more severe of the ERCC8-Related Disorders is called Cockayne Syndrome, Type A. Symptoms vary from person to person and can range from severe symptoms that start before birth to milder symptoms that don't occur until later childhood. Along with the sensitivity to sunlight, children with early-onset Cockayne Syndrome, Type A often have a small head and brain (microcephaly), slow growth, very short stature, developmental delays, and intellectual disability that tends to worsen over time. Some affected children also have large numbers of cavities and other teeth problems, bone changes, coordination and balance problems (ataxia), stiff muscles (spasticity), numbness and pain in the limbs (peripheral neuropathy), kidney problems, and vision and/or hearing loss. The most severe form of Cockayne Syndrome has symptoms that start before birth and may include very low birth weight and length, small head and brain (microcephaly), severe developmental delays and intellectual disability, cataracts and other eye abnormalities, along with joint and spine abnormalities. Individuals with Cockayne Syndrome, Type A may develop liver failure if they take a specific antibiotic called Metronidazole, so this medication should be avoided. Children with early-onset severe symptoms often have shortened life spans. Children with symptoms that start after the age of 2 tend to have fewer symptoms that are typically less severe. Symptoms of this later-onset form of Cockayne Syndrome, Type A often include sensitivity to sunlight, short stature, ataxia that worsens with time, peripheral neuropathy, and mild cognitive disabilities that worsen over time. Another ERCC8-Related Disorder, called UV-Sensitive Syndrome 2, is less common. UV-Sensitive Syndrome 2 causes sensitivity to the UV rays in sunlight, with the same risks of severe sunburn with limited sun exposure, but does not have the other symptoms seen in Cockayne Syndrome, Type A. Individuals with UV-Sensitive Syndrome 2 may have dry skin and freckles and other patchy color changes on the skin after sun exposure. Some also have groupings of blood vessels that show through the skin (telangiectasia) which occur most often on the cheeks and nose. Currently there is no cure for ERCC8-Related Disorders and treatment is based on symptoms. All affected individuals should avoid sunlight and never take the medication Metronidazole. What causes ERCC8-Related Disorders? ERCC8-Related Disorders are caused by a change, or mutation, in both copies of the ERCC8 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ERCC8 gene do not work correctly, it leads to the symptoms of one of the related disorders described above. |
Early Infantile Epileptic Encephalopathy, Cad-Related
|
CAD (NM_004341.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Ehlers-Danlos Syndrome Type Vi
|
PLOD1 (NM_000302.3) |
General population |
1 in 150 |
1 in 14900 |
99% |
|
|
Ehlers-Danlos Syndrome, Classic-Like, TNXB-Related
|
TNXB (NM_019105.8) |
General population |
1 in 750 |
1 in 14981 |
95% |
|
What is Ehlers-Danlos syndrome, classic-like, TNXB-related? Ehlers-Danlos syndrome, classic-like, TNXB-related (also called EDS, classic-like 1), is an inherited condition that leads to weak connective tissue in the body. Symptoms include loose joints (hypermobility) with an increased risk for chronic joint pain, joint dislocation, and soft velvety skin. Some people with this form have easy bruising. Other symptoms such as muscle weakness, fatigue, and lessened sensations in the limbs (peripheral neuropathy) occur occasionally. Currently, there is no cure for this condition and treatment is based on symptoms. What causes Ehlers-Danlos syndrome, classic-like, TNXB-related? Ehlers-Danlos syndrome, classic-like, TNXB-related, is caused by a gene change, or mutation, in both copies of the TNXB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the TNXB gene do not work correctly, it leads to the symptoms described above. |
Ehlers-Danlos Syndrome, Type VIIC
|
ADAMTS2 (NM_014244.4) |
Ashkenazi Jewish |
1 in 248 |
1 in 24701 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Ehlers-Danlos Syndrome, Type VIIC
|
ADAMTS2 (NM_ 014244.4) |
Ashkenazi Jewish |
1 in 187 |
1 in 3721 |
>95% |
|
General population |
<1 in 500 |
1 in 7130 |
93% |
What is Ehlers-Danlos Syndrome, Type VIIC?
Ehlers-Danlos Syndrome, Type VIIC is an autosomal recessive disorder of connective tissue which causes the skin to be extremely fragile and excessive bruising is common. Most people with Ehlers-Danlos Syndrome, Type VIIC have changes in their facial features that include puffy eye lids, full lips, small chin, and blue coloring of the whites of the eyes (blue sclera). People with this condition also have short stature and small hands and feet with multiple skin folds around the fingers and ankles. Extreme flexibility of the joints (hypermobility) and skin sagging are common and worsen with age. The skin also becomes more fragile with age and frequent skin infections may occur, which are difficult to treat. These infections can sometimes lead to early death.
What causes Ehlers-Danlos Syndrome, Type VIIC?
Ehlers-Danlos Syndrome, Type VIIC is caused by a gene change, or mutation, in both copies of the ADAMTS2 gene. These mutations cause the genes to not work properly or not work at all. When both copies of the ADAMTS2 gene do not work correctly, it leads to the symptoms described above. |
Ehlers-Danlos Syndrome, Type VIIC
|
ADAMTS2 (NM_014244.4) |
Ashkenazi Jewish |
1 in 187 |
1 in 3721 |
>95% |
|
General population |
<1 in 500 |
1 in 7130 |
93% |
|
Ellis-van Creveld Syndrome, EVC-Related
|
EVC (NM_153717.2) |
General population |
1 in 345 |
1 in 34401 |
99% |
|
Lancaster County Amish |
1 in 12 |
1 in 1101 |
99% |
|
Ellis-van Creveld Syndrome, EVC-Related
|
EVC (NM_ 153717.2) |
Amish - Pennsylvania |
1 in 12 |
1 in 221 |
>95% |
|
General population |
1 in 345 |
1 in 3441 |
90% |
What is Ellis-van Creveld Syndrome, EVC-Related?
Ellis-van Creveld (EVC) Syndrome, EVC-Related is an autosomal recessive disorder that causes short stature, changes in the skeleton, and other birth defects. Signs and symptoms begin before birth. Bones develop abnormally and affected infants have short forearms and lower legs, narrow chest with short ribs, and extra fingers and toes. Other symptoms that may occur include cleft lip, abnormal development of the teeth, heart defects, male genital abnormalities, underdeveloped finger- and toenails, and intellectual disability.
What causes Ellis-van Creveld Syndrome, EVC-Related?
Ellis-van Creveld Syndrome, EVC-Related is caused by a change, or mutation, in both copies of the EVC gene. These mutations cause the genes to not work properly or not work at all. Normal function of the EVC gene is important for forming the bones and other parts of the body. When both copies of the EVC gene pair do not work correctly, it results in the symptoms described above.
Very rarely, a mutation in the same gene that causes Ellis-van Creveld Syndrome, EVC-Related instead causes a related autosomal dominant condition called Weyers Acrofacial Dysostosis that affects the bones, teeth, and nails. Symptoms of this condition are milder than Ellis-van Creveld Syndrome, EVC-Related and often include missing or small teeth, misshaped jaw bone, small or unusually shaped nails, and short stature. |
Ellis-van Creveld Syndrome, EVC2-Related
|
EVC2 (NM_147127.4) |
General population |
1 in 122 |
1 in 12101 |
99% |
|
What is Ellis-van Creveld Syndrome, EVC2-Related? Ellis-van Creveld Syndrome, EVC2-Related is an inherited disorder that causes short stature, changes in the skeleton, and other birth defects. Signs and symptoms begin before birth. The bones develop abnormally and affected infants have short forearms and lower legs, narrow chest with short ribs, and extra fingers and toes. Other symptoms that may occur with Ellis-van Creveld Syndrome, EVC2-Related include cleft lip, abnormal development of the teeth, heart defects, male genital abnormalities, underdeveloped finger- and toenails, and intellectual disability. What causes Ellis-van Creveld Syndrome? Ellis-van Creveld Syndrome, EVC2-Related is caused by a change, or mutation, in both copies of the EVC2 gene. These mutations cause the genes to not work properly or not work at all. Normal function of the EVC2 gene is important for forming the bones and other parts of the body. When both copies of the EVC2 gene pair do not work correctly, it results in the symptoms described above. |
Ellis-van Creveld syndome
|
EVC (NM_153717.2) |
General population |
1 in 345 |
1 in 3441 |
90% |
|
Lancaster County Amish |
1 in 12 |
1 in 221 |
>95% |
|
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
|
EMD (NM_ 000117.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Emery-Dreifuss Muscular Dystrophy 1, X-Linked?
Emery-Dreifuss Muscular Dystrophy 1, X-Linked is an X-linked inherited disorder that affects mainly boys. It causes weakness in the muscles used for movement (skeletal muscles) and the heart muscle. Muscle weakness starts in the upper arms and lower legs and worsens to involve the muscles in the shoulders and hips. Stiff joints (contractures) occur over time and limit the movement of the elbows, ankles, and neck. Signs of Emery-Dreifuss Muscular Dystrophy 1, X-Linked usually appear by age 10. Almost all people with this disorder have heart problems by adulthood. If untreated, this can lead to an unusually slow heartbeat, fainting, and an increased risk of stroke and sudden death. Currently there is no cure for Emery-Dreifuss Muscular Dystrophy 1, X-Linked and treatment is based on symptoms. Some female carriers have heart problems, and, while rarer, some have other symptoms such as mild to moderate muscle weakness.
What causes Emery-Dreifuss Muscular Dystrophy 1, X-Linked?
Emery-Dreifuss Muscular Dystrophy 1, X-Linked is caused by a change, or mutation, in the EMD gene. This mutation causes the gene to not work properly or not work at all. When the EMD gene is not working correctly in a male, it leads to the symptoms described above. |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
|
EMD (NM_000117.2) |
General population |
1 in 375000 |
1 in 37499901 |
99% |
|
|
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
|
FHL1 (NM_001449.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Emery-Dreifuss Muscular Dystrophy, X-Linked
|
EMD (NM_000117.2) |
General population |
1 in 375000 |
1 in 1000000 |
>95% |
|
|
Enhanced S-Cone Syndrome
|
NR2E3 (NM_014249.3) |
Ashkenazi Jewish |
1 in 100 |
1 in 9901 |
>99% |
|
General population |
1 in 204 |
1 in 4061 |
>95% |
|
Enhanced S-Cone Syndrome
|
NR2E3 (NM_014249.3) |
Ashkenazi Jewish |
1 in 100 |
1 in 9901 |
99% |
|
General population |
1 in 204 |
1 in 20301 |
99% |
|
|
NR2E3 (NM_ 014249.3) |
Ashkenazi Jewish |
Unknown |
Unknown |
>95% |
|
General population |
1 in 204 |
1 in 4061 |
>95% |
What is Enhanced S-Cone Syndrome?
Enhanced S-Cone Syndrome (also known as Goldmann-Favre Syndrome) is an autosomal recessive eye disorder that causes vision loss, night blindness, cataracts, increased sensitivity to blue light, and specific findings on eye examination. Signs and symptoms usually begin in childhood and are caused by breakdown of the retina (the light sensitive tissue in the back of the eye). The symptoms progress over time and vision worsens with age. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Enhanced S-Cone Syndrome?
Enhanced S-Cone Syndrome is caused by a gene change, or mutation, in both copies of the NR2E3 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the NR2E3 gene pair is important for the health of the retina in the eye. When both copies of the NR2E3 gene do not work correctly, it leads to the symptoms described above. |
Epimerase Deficiency (Galactosemia Type Iii)
|
GALE (NM_000403.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Epiphyseal Dysplasia, Multiple, 7 / Desbuquois Dysplasia 1
|
CANT1 (NM_138793.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Epiphyseal Dysplasia, Multiple, 7 / Desbuquois Dysplasia 1? Epiphyseal Dysplasia, Multiple, 7 (EDM7) and Desbuquois Dysplasia 1 are inherited disorders that cause abnormal bone growth that starts before birth. EMD7 is called a 'skeletal dysplasia', meaning that the bones and joints are abnormally shaped. The bone and joint changes cause joint pain, walking problems, short height, and short fingers. The severity of the condition varies from person to person and some affected individuals have milder symptoms. Desbuquois Dysplasia 1 causes growth delay before birth, loose joints, and short arms and legs. Children with this condition have scoliosis that worsens over time. Affected adults are short and some may develop arthritis of hands and spine. There is no cure for these conditions and treatment is based on symptoms. What causes Epiphyseal Dysplasia, Multiple, 7 / Desbuquois Dysplasia 1? EDM7 and Desbuquois Dysplasia 1 are caused by a gene change, or mutation, in both copies of the CANT1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms of one of the disorders described above. |
Ethylmalonic Encephalopathy
|
ETHE1 (NM_ 014297.3) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
What is Ethylmalonic Encephalopathy?
Ethylmalonic Encephalopathy is an autosomal recessive disorder that reduces the body’s ability to make energy. The signs and symptoms usually start shortly after birth. Children with this disorder typically have developmental delay, seizures, weak muscle tone (hypotonia), chronic diarrhea, reduced oxygen to the hands and feet causing bluish-white coloring, and problems with the blood vessels that cause a red rash. Children with this disorder usually do not live past 10 years of age. Special dietary treatment and supplements may help delay the progression of the symptoms.
What causes Ethylmalonic Encephalopathy?
Ethylmalonic Encephalopathy is caused by a change, or mutation, in both copies of the ETHE1 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the ETHE1 genes is to help make energy for the cells of the body. When both copies of this gene are not working correctly, it leads to the symptoms described above. |
Ethylmalonic Encephalopathy
|
ETHE1 (NM_014297.3) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
|
Ethylmalonic Encephalopathy
|
ETHE1 (NM_014297.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Fabry Disease
|
GLA (NM_000169.2) |
General population |
1 in 42000 |
1 in 4199901 |
99% |
|
|
|
GLA (NM_ 000169.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Fabry Disease?
Fabry Disease is an X-linked inherited disorder that causes a buildup of a certain type of fat in the cells of the body. Affected males usually have signs and symptoms beginning in childhood. Fabry Disease causes pain episodes, often of the hands and feet; red spots on the skin (angiokeratomas); lack of sweating; cloudiness of the corneas of the eyes (corneal opacity); hearing loss; slow weight gain; digestive problems and pain; progressive kidney failure; and heart disease (arrhythmia). The severity of Fabry Disease varies from person to person, with some males having mild symptoms and others having more severe disease. Over time, the symptoms of Fabry Disease can include kidney failure, stroke, and heart attacks, all of which can be life-threatening. Some females who are carriers for Fabry Disease develop some symptoms although they are usually milder. Life-long treatment with special diet and enzyme replacement therapy is available for Fabry Disease.
What causes Fabry Disease?
Fabry Disease is caused by a change, or mutation, in the GLA gene. This mutation causes the gene to not work properly or not work at all. People with Fabry do not make an enzyme that normally breaks down certain fats in the body. When these fats are not broken down and removed from the body, they build up and lead to the symptoms described above. |
Fabry Disease, X-Linked
|
GLA (NM_000169.2) |
General population |
1 in 42000 |
1 in 840000 |
>95% |
|
|
Factor IX Deficiency
|
F9 (NM_000133.3) |
General population |
1 in 23000 |
1 in 2299901 |
99% |
|
|
|
F9 (NM_ 000133.3) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
What is Factor IX Deficiency?
Factor IX Deficiency, also known as Hemophilia B or Christmas disease, is an X-linked inherited bleeding disorder that affects boys more often than girls. Factor IX is a protein that helps to clot blood after injury. If the body does not make enough normal Factor IX, it causes longer than average bleeding times, especially following surgery, injury or trauma, and tooth extractions. The symptoms of Factor IX Deficiency can be mild, moderate, or severe and vary from person to person. People with severe Factor IX Deficiency have symptoms that start in early childhood and have episodes of uncontrolled bleeding in the brain, joints, muscles, or other organs, even without injury. Nosebleeds, easy bruising and blood in the urine are also common. People with moderate Factor IX Deficiency usually show symptoms by the age of 5 or 6 and often have prolonged bleeding after minor injuries, surgeries, or tooth extraction. Mild Factor IX Deficiency causes bleeding problems after surgery and tooth extraction but usually not with minor injury and may not be recognized until later in life. Children with Factor IX Deficiency are likely to need lifelong medical care. Treatment for Factor IX Deficiency often includes infusions of Factor IX to help restore normal blood clotting.
What causes Factor IX Deficiency?
Factor IX Deficiency is caused by a change, or mutation, in the F9 gene. This mutation causes the gene to not work properly or not work at all. Normal function of the F9 gene is important for making Factor IX, a protein that helps in blood clotting. When the F9 gene in a male does not work correctly, it leads to the symptoms described above. Most female carriers of Factor IX Deficiency have no symptoms; however, about 10% of female carriers have some bleeding problems, particularly after surgery, tooth extraction, or trauma. |
Factor V Deficiency
|
F5 (NM_000130.4) |
General population |
1 in 26 |
1 in 2500 |
99% |
|
|
|
F11 (NM_ 000128.3) |
Ashkenazi Jewish |
1 in 11 |
1 in 201 |
>95% |
|
Asian |
1 in 163 |
1 in 3241 |
>95% |
Caucasian |
1 in 101 |
1 in 2001 |
>95% |
General population |
1 in 92 |
1 in 1821 |
>95% |
What is Factor XI Deficiency?
Factor XI Deficiency, also called Hemophilia C, is an autosomal recessive bleeding disorder that causes mild to heavy bleeding, especially following dental tooth extraction, surgery, or trauma. Some people with Factor XI Deficiency also experience frequent nosebleeds and bruising. Women may have heavy menstrual cycles or postpartum bleeding. Most people with this condition will have mild symptoms; however, symptoms may be more severe in certain cases. Treatment with medications that help blood clot more quickly may be helpful for people with severe bleeding problems. Factor XI deficiency is considered less severe than other forms of hemophilia (types A and B).
What causes Factor XI Deficiency?
Factor XI Deficiency is caused by a gene change, or mutation, in both copies of the F11 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the F11 gene pair is important for making a protein that helps in blood clotting. When both copies of the F11 gene do not work correctly, it leads to the symptoms described above.
Carriers have one working copy of the gene and one non-working copy. People who are carriers for Factor XI Deficiency may have some symptoms of Factor XI Deficiency such as prolonged bleeding after surgery, trauma, or tooth extraction, or they may have no symptoms at all. |
Factor XI Deficiency
|
F11 (NM_000128.3) |
Ashkenazi Jewish |
1 in 11 |
1 in 201 |
>95% |
|
Asian |
1 in 163 |
1 in 3241 |
>95% |
Caucasian |
1 in 101 |
1 in 2001 |
>95% |
General population |
1 in 92 |
1 in 1821 |
>95% |
|
Factor XI Deficiency
|
F11 (NM_000128.3) |
Ashkenazi Jewish |
1 in 11 |
1 in 1001 |
99% |
|
Asian |
1 in 163 |
1 in 16201 |
99% |
Caucasian |
1 in 101 |
1 in 10001 |
99% |
General population |
1 in 92 |
1 in 9101 |
99% |
|
Familial Dysautonomia
|
ELP1 aka IKBKAP (NM_ 003640.3) |
Ashkenazi Jewish |
1 in 34 |
1 in 3301 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
IKBKAP (ELP1) (NM_ 003640.3) |
Ashkenazi Jewish |
1 in 31 |
1 in 601 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Familial Dysautonomia?
Familial Dysautonomia is an autosomal recessive disorder that affects the nervous system. Symptoms usually start in infancy and include poor muscle tone (hypotonia), problems with feeding and digestion, episodes of vomiting, lessened sensitivity to pain, and problems keeping a normal body temperature. Children with Familial Dysautonomia may also have delays in reaching developmental milestones, such as walking. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Familial Dysautonomia?
Familial Dysautonomia is caused by a gene change, or mutation, in both copies of the IKBKAP gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Familial Dysautonomia
|
IKBKAP (NM_003640.3) |
Ashkenazi Jewish |
1 in 31 |
1 in 601 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Familial Hemophagocytic Lymphohistiocytosis, PRF1-Related
|
PRF1 (NM_001083116.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Familial Hemophagocytic Lymphohistiocytosis, PRF1-Related? Familial Hemophagocytic Lymphohistiocytosis, PRF1-Related (also called FHL2) is an inherited disorder that affects the immune system and bone marrow. Age of onset is usually in infancy or early childhood, although in some cases symptoms don't start until late childhood or adulthood. People with this disorder have immune system problems that cause them to make too many active immune cells (T cells, B cells, and macrophages) and too many immune proteins called cytokines. The excess immune cells and proteins cause episodes of inflammation and prolonged fevers along with enlarged liver and spleen which become progressively damaged over time. These episodes of inflammation and fever are often triggered by infections caused by viruses or bacteria. This disorder also damages the bone marrow leading to too few red blood cells, which causes anemia, and too few platelets, which causes easy bruising and prolonged bleeding. Affected individuals may sometimes also develop decreased or increased muscle tone (hypotonia or hypertonia), seizures, coordination and movement problems, paralysis, vision loss, and/or other nervous system problems. Occasionally the heart, kidneys, and other organs are affected as well, and affected individuals are at increased risk for leukemia and lymphoma. Treatment includes rapid medical management of infections. Without treatment, babies with this disorder may die within months. The most effective long-term treatment is stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Familial Hemophagocytic Lymphohistiocytosis PRF1-Related? Familial Hemophagocytic Lymphohistiocytosis, PRF1-Related is caused by a gene change, or mutation, in both copies of the PRF1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the PRF1 gene do not work properly, it leads to the symptoms described above. |
Familial Hemophagocytic Lymphohistiocytosis, STX11-Related
|
STX11 (NM_003764.3) |
General population |
1 in 354 |
1 in 35301 |
99% |
|
What is Familial Hemophagocytic Lymphohistiocytosis, STX11-Related? Familial Hemophagocytic Lymphohistiocytosis, STX11-Related (also known as FHL4) is an inherited disorder that affects the immune system and bone marrow. Age of onset is usually in infancy or early childhood, although in some cases symptoms don't start until late childhood or adulthood. People with this disorder have immune system problems that cause them to make too many active immune cells (T cells, B cells, and macrophages) and too many immune proteins called cytokines. The excess immune cells and proteins cause episodes of inflammation and prolonged fevers along with enlarged liver and spleen which become progressively damaged over time. These episodes of inflammation and fever are often triggered by infections caused by viruses or bacteria. This disorder also damages the bone marrow leading to too few red blood cells, which causes anemia, and too few platelets, which causes easy bruising and prolonged bleeding. Affected individuals may sometimes also develop decreased or increased muscle tone (hypotonia or hypertonia), seizures, coordination and movement problems, paralysis, vision loss, and/or other nervous system problems. Occasionally the heart, kidneys, and other organs are affected as well, and affected individuals are at increased risk for leukemia and lymphoma. Treatment includes rapid medical management of infections. Without treatment, babies with this disorder may die within months. The most effective long-term treatment is stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Familial Hemophagocytic Lymphohistiocytosis STX11-Related? Familial Hemophagocytic Lymphohistiocytosis, STX11-Related is caused by a gene change, or mutation, in both copies of the STX11 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the STX11 gene do not work properly, it leads to the symptoms described above. |
Familial Hemophagocytic Lymphohistiocytosis, STXBP2-Related
|
STXBP2 (NM_006949.3) |
General population |
1 in 296 |
1 in 29501 |
99% |
|
What is Familial Hemophagocytic Lymphohistiocytosis, STXBP2-Related? Familial Hemophagocytic Lymphohistiocytosis, STXBP2-Related (also called FHL5) is an inherited disorder that affects the immune system and bone marrow. Age of onset is usually in infancy or early childhood, although in some cases symptoms don't start until late childhood or adulthood. People with this disorder have immune system problems that cause them to make too many active immune cells (T cells, B cells, and macrophages) and too many immune proteins called cytokines. The excess immune cells and proteins cause episodes of inflammation and prolonged fevers along with enlarged liver and spleen which become progressively damaged over time. These episodes of inflammation and fever are often triggered by infections caused by viruses or bacteria. This disorder also damages the bone marrow leading to too few red blood cells, which causes anemia, and too few platelets, which causes easy bruising and prolonged bleeding. Affected individuals may sometimes also develop decreased or increased muscle tone (hypotonia or hypertonia), seizures, coordination and movement problems, paralysis, vision loss, and/or other nervous system problems. Occasionally the heart, kidneys, and other organs are affected as well, and affected individuals are at increased risk for leukemia and lymphoma. Treatment includes rapid medical management of infections. Without treatment, babies with this disorder may die within months. The most effective long-term treatment is stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Familial Hemophagocytic Lymphohistiocytosis STXBP2-Related? Familial Hemophagocytic Lymphohistiocytosis, STXBP2-Related is caused by a gene change, or mutation, in both copies of the STXBP2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the STXBP2 gene do not work properly, it leads to the symptoms described above. |
Familial Hemophagocytic Lymphohistiocytosis, Unc13D-Related
|
UNC13D (NM_199242.2) |
General population |
1 in 250 |
1 in 24,900 |
99% |
|
|
Familial Hypercholesterolemia, LDLR-Related
|
LDLR (NM_ 000527.4) |
Ashkenazi Jewish |
1 in 69 |
1 in 454 |
85% |
|
Caucasian |
1 in 200 |
1 in 1328 |
85% |
Finnish |
1 in 143 |
1 in 2841 |
>95% |
French Canadian |
1 in 267 |
1 in 360 |
26% |
South African Afrikaner |
1 in 70 |
1 in 1381 |
>95% |
General population |
< 1 in 500 |
1 in 3565 |
86% |
|
Familial Hypercholesterolemia, LDLR-Related
|
LDLR (NM_000527.4) |
Ashkenazi Jewish |
1 in 69 |
1 in 6801 |
99% |
|
Caucasian |
1 in 200 |
1 in 19901 |
99% |
Finnish |
1 in 143 |
1 in 14201 |
99% |
French Canadian |
1 in 267 |
1 in 26601 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
South African Afrikaner |
1 in 70 |
1 in 6901 |
99% |
|
Familial Hypercholesterolemia, LDLR-Related
|
LDLR (NM_ 000527.4) |
Ashkenazi Jewish |
1 in 69 |
1 in 454 |
85% |
|
Caucasian |
1 in 200 |
1 in 1328 |
85% |
Finnish |
1 in 143 |
1 in 2841 |
>95% |
French Canadian |
1 in 267 |
1 in 360 |
26% |
South African Afrikaner |
1 in 70 |
1 in 1381 |
>95% |
General population |
< 1 in 500 |
1 in 3565 |
86% |
What is Familial Hypercholesterolemia, LDLR-Related?
Familial Hypercholesterolemia, LDLR-Related is an autosomal dominant inherited disorder that causes high cholesterol levels in the body. Cholesterol is a waxy, fat-like substance that is found in all cells of the body. With Familial Hypercholesterolemia, LDLR-Related, the body is unable to remove LDL (low density lipoprotein, also known as "bad" cholesterol) from the blood. High blood levels of LDL cholesterol can lead to heart disease in adulthood and other symptoms including fatty skin deposits (xanthomas) over parts of the hands, elbows, knees, ankles, and around the cornea of the eye; cholesterol deposits in the eyelids (xanthelasmas); chest pain (angina) or other signs of coronary artery disease; sores on the toes that do not heal; and sudden stroke-like symptoms. About 1 in 500 people has Familial Hypercholesterolemia, LDLR-Related.
When both parents have Familial Hypercholesterolemia, LDLR-Related, their children can inherit a more severe childhood-onset form of the condition called Homozygous Familial Hypercholesterolemia, LDLR-Related. In these cases there is a much greater increase in blood cholesterol levels resulting in a high risk for heart disease and heart attacks in childhood.
What causes Familial Hypercholesterolemia, LDLR-Related?
Most cases of high cholesterol are due to a combination of genetic and lifestyle factors. There are several inherited (familial) forms of hypercholesterolemia caused by gene changes (mutations) in different genes, most commonly the LDLR gene. When Familial Hypercholesterolemia is caused by a mutation in the LDLR gene, it is called Familial Hypercholesterolemia, LDLR-Related.
Familial Hypercholesterolemia, LDLR-Related is caused by mutations in the LDLR gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means having a change, or mutation, in one copy of a pair of genes is enough to cause the disorder. The mutation causes the gene to not work properly or not work at all. Normal function of the LDLR gene is important in helping the body get rid of excess LDL cholesterol from the blood. When one copy of the LDLR gene is not working properly, it causes the symptoms of Familial Hypercholesterolemia, LDLR-Related described above.
Rarely, a child can inherit mutations in both copies of the LDLR gene pair. This happens when both parents have Familial Hypercholesterolemia, LDLR-Related (one LDLR gene mutation) and each passes their LDLR gene mutation to their child. Children who inherit mutations in both copies of their LDLR genes have severe childhood-onset Homozygous Familial Hypercholesterolemia, LDLR-Related with symptoms that start at much younger ages than those with only one LDLR gene mutation. |
Familial Hypercholesterolemia, LDLRAP1-Related
|
LDLRAP1 (NM_ 015627.2) |
Sardinian |
1 in 143 |
1 in 2841 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
95% |
What is Familial Hypercholesterolemia, LDLRAP1-Related?
Familial Hypercholesterolemia, LDLRAP1-Related is an autosomal recessive disorder that causes very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is found in all cells of the body. Too much cholesterol in the blood increases the risk of heart disease. With Familial Hypercholesterolemia, LDLRAP1-Related the body is unable to remove LDL (low density lipoprotein, also known as ‘bad’ cholesterol) from the blood. High blood levels of LDL cholesterol can lead to heart disease in early adulthood. Other symptoms include fatty skin deposits (xanthomas) over parts of the hands, elbows, knees, ankles, and around the cornea of the eye; cholesterol deposits in the eyelids (xanthelasmas); chest pain (angina) or other signs of coronary artery disease; sores on the toes that do not heal; and sudden stroke-like symptoms. Treatment usually includes a medical low-cholesterol, low-fat diet along with cholesterol lowering medication and other supplements as indicated.
What causes Familial Hypercholesterolemia- LDLRAP1-Related?
Familial Hypercholesterolemia, LDLRAP1-Related is caused by a gene change, or mutation, in both copies of the LDLRAP1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it causes the symptoms described above. |
Familial Hypercholesterolemia, LDLRAP1-Related
|
LDLRAP1 (NM_015627.2) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
Sardinian |
1 in 143 |
1 in 2841 |
>95% |
|
Familial Hypercholesterolemia, LDLRAP1-Related
|
LDLRAP1 (NM_015627.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sardinian |
1 in 143 |
1 in 14201 |
99% |
|
Familial Hyperinsulinism, ABCC8-Related
|
ABCC8 (NM_000352.4) |
Ashkenazi Jewish |
1 in 52 |
1 in 5101 |
99% |
|
Finnish |
1 in 29 |
1 in 2801 |
99% |
General population |
1 in 112 |
1 in 11101 |
99% |
|
Familial Hyperinsulinism, ABCC8-Related
|
ABCC8 (NM_ 000352.4) |
Ashkenazi Jewish |
1 in 52 |
1 in 1021 |
>95% |
|
Finnish |
1 in 100 |
1 in 1981 |
>95% |
General population |
1 in 167 |
1 in 3321 |
>95% |
What is Familial Hyperinsulinism, ABCC8-Related?
Familial Hyperinsulinism, ABCC8-Related is an autosomal recessive disorder that causes the insulin-making cells of the pancreas to release too much insulin. Insulin is a hormone that controls blood sugar. Too much insulin causes hypoglycemia (low blood sugar), even after eating. Symptoms of Familial Hyperinsulinism, ABCC8-Related include tiredness, irritability, and poor appetite. If untreated, repeated episodes of low blood sugar can result in breathing problems, vision problems, seizures, brain damage, intellectual disability, and coma. The symptoms of Familial Hyperinsulinism, ABCC8-Related range from mild to severe, even among affected individuals within the same family. Early diagnosis and treatment can reduce and often prevent more serious health problems. Less commonly, children with mutations in the same gene may have a different inherited disorder called Neonatal Diabetes Mellitus which is usually autosomal recessive, but is sometimes inherited in an autosomal dominant manner.
What causes Familial Hyperinsulinism, ABCC8-Related?
Familial Hyperinsulinism, ABCC8-Related is caused by a gene change, or mutation, in both copies of the ABCC8 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Familial Hyperinsulinism, ABCC8-Related
|
ABCC8 (NM_000352.4) |
Ashkenazi Jewish |
1 in 52 |
1 in 1021 |
>95% |
|
Finnish |
1 in 100 |
1 in 1981 |
>95% |
General population |
1 in 167 |
1 in 3321 |
>95% |
|
Familial Hyperinsulinism, KCNJ11-Related
|
KCNJ11 (NM_000525.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Familial Mediterranean Fever
|
MEFV (NM_000243.2) |
Armenian |
1 in 5 |
1 in 81 |
>95% |
|
Ashkenazi Jewish |
1 in 13 |
1 in 241 |
>95% |
General population |
1 in 115 |
1 in 2281 |
>95% |
Sephardic Jewish |
1 in 14 |
1 in 261 |
>95% |
Turkish |
1 in 5 |
1 in 81 |
>95% |
|
Familial Mediterranean Fever
|
MEFV (NM_000243.2) |
Armenian |
1 in 5 |
1 in 401 |
99% |
|
Ashkenazi Jewish |
1 in 13 |
1 in 1201 |
99% |
General population |
1 in 115 |
1 in 11401 |
99% |
Sephardic Jewish |
1 in 14 |
1 in 1301 |
99% |
Turkish |
1 in 5 |
1 in 401 |
99% |
|
Familial Mediterranean Fever
|
MEFV (NM_ 000243.2) |
Armenian |
1 in 5 |
1 in 81 |
>95% |
|
Ashkenazi Jewish |
1 in 13 |
1 in 241 |
>95% |
Sephardic Jewish |
1 in 14 |
1 in 261 |
>95% |
Turkish |
1 in 5 |
1 in 81 |
>95% |
General population |
1 in 115 |
1 in 2281 |
>95% |
What is Familial Mediterranean Fever?
Familial Mediterranean Fever is an autosomal recessive disorder that causes episodes of inflammation and pain, often with fever and sometimes with rash or headache. Commonly the pain involves the joints, abdomen and chest, but can happen in other parts of the body as well. A buildup of protein in the body’s organs (amyloidosis), including the kidneys, can lead to kidney failure. Symptoms are variable and often begin in childhood but can begin in adulthood as well, and there are rare people who never develop symptoms. Lifelong medical treatment is often needed to help prevent attacks and organ damage.
What causes Familial Mediterranean Fever?
Familial Mediterranean Fever is caused by a gene change, or mutation, in both copies of the MEFV gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it can cause the symptoms described above.
Carriers for Familial Mediterranean Fever may have some symptoms of the disorder which are typically milder than individuals with the full condition. |
Familial Nephrogenic Diabetes Insipidus, AQP2-Related
|
AQP2 (NM_ 000486.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Familial Nephrogenic Diabetes Insipidus, AQP2-Related?
Familial Nephrogenic Diabetes Insipidus, AQP2-Related is an autosomal recessive condition caused by an imbalance of water in the body. Affected individuals make too much urine, causing excessive thirst and dehydration if enough fluids are not taken in. Signs and symptoms begin in the first few months of life and include feeding problems, failure to gain weight and grow at the expected rate (failure to thrive), fever, irritability, diarrhea, and vomiting. Chronic dehydration can lead to slow growth and delayed development. Over time damage can occur to the bladder and kidneys. With treatment, affected individuals can lead healthy lives. In rare cases, symptoms do not appear until later in childhood or early adulthood. Rarely (less than 1% of the time), this condition is inherited in an autosomal dominant manner.
What causes Familial Nephrogenic Diabetes Insipidus, AQP2-Related?
Familial Nephrogenic Diabetes Insipidus, AQP2-Related is caused by a change, or mutation, in both copies of the AQP2 gene. These mutations cause the genes to not work properly or not work at all. Normal function of the AQP2 gene pair is important for how much water is put into the urine. When both copies of the AQP2 gene pair are not working, it results in the symptoms described above. |
Familial Nephrogenic Diabetes Insipidus, AQP2-Related
|
AQP2 (NM_000486.5) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Familial Neuropophyseal Diabetes Insipidus, Autosomal Recessive
|
AQP2 (NM_000486.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Fanconi Anemia, Group A
|
FANCA (NM_000135.3) |
General population |
1 in 345 |
1 in 34401 |
99% |
|
Sephardic Jewish - Moroccan, Tunisian |
1 in 133 |
1 in 13201 |
99% |
Spanish Roma |
1 in 64 |
1 in 6301 |
99% |
|
|
FANCA (NM_ 000135.2) |
Sephardic Jewish - Moroccan, Tunisian |
1 in 133 |
1 in 2641 |
>95% |
|
Roma - Spanish |
1 in 64 |
1 in 1261 |
>95% |
General population |
1 in 345 |
1 in 1434 |
76% |
What is Fanconi Anemia, Group A?
Fanconi Anemia, Group A is an autosomal recessive disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Fanconi Anemia, Group A?
Fanconi Anemia, Group A is caused by a gene change, or mutation, in both copies of the FANCA gene pair. These mutations cause the genes to not work properly or not work at all. The job of the FANCA genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death or uncontrolled cell growth which leads to the symptoms described above. |
|
FANCB (NM_001018113.2) |
General population |
1 in 750000 |
1 in 74999901 |
99% |
|
What is Fanconi Anemia, Group B? Fanconi Anemia, Group B is an inherited disorder that affects mainly males. The main symptoms are bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. Rarely, individuals with Fanconi Anemia, Group B will have additional symptoms that may include birth defects of the spinal column, anus, esophagus, trachea, and kidneys (this group of birth defects is sometimes called VACTERL-H). There is currently no cure for Fanconi Anemia, Group B. In some cases, individuals with Fanconi Anemia, Group B have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Fanconi Anemia, Group B? Fanconi Anemia, Group B is caused by a gene change, or mutation in the FANCB gene. This mutation causes the gene to not work properly or not work at all, which results in the symptoms described above. |
|
FANCC (NM_ 000136.2) |
Ashkenazi Jewish |
1 in 89 |
1 in 1761 |
>95% |
|
General population |
1 in 417 |
1 in 8321 |
>95% |
What is Fanconi Anemia, Group C?
Fanconi Anemia, Group C is an autosomal recessive disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Some recent studies have suggested that carriers of Fanconi Anemia, Group C may have a slightly increased risk for certain cancers including, but not limited to, breast cancer and pancreatic cancer. However, other studies show no increased risk for cancer. The actual risk for cancer in carriers of Fanconi Anemia, Group C, if increased, is not clear and further studies need to be done.
What causes Fanconi Anemia, Group C?
Fanconi Anemia, Group C is caused by a gene change, or mutation, in both copies of the FANCC gene pair. These mutations cause the genes to not work properly or not work at all. The function of the FANCC genes is to help repair DNA within cells. When both copies of this gene do not work correctly, it can cause cell death or uncontrolled cell growth which leads to the symptoms described above. |
Fanconi Anemia, Group C
|
FANCC (NM_000136.2) |
Ashkenazi Jewish |
1 in 98 |
1 in 9701 |
99% |
|
General population |
1 in 1053 |
1 in 105201 |
99% |
|
|
FANCD2 (NM_033084.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Fanconi Anemia, Group D2? Fanconi Anemia, Group D2 is an inherited disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. Currently there is no cure for this condition and treatment is based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Fanconi Anemia, Group D2? Fanconi Anemia, Group D2 is caused by a gene change, or mutation in both copies of the FANCD2 gene pair. These mutations cause the genes to not work properly or not work at all. The job of the FANCD2 genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death and/or uncontrolled cell growth which leads to the symptoms described above. Fanconi Anemia, Group D2 is inherited in an autosomal recessive manner. This means that, in most cases, both parents must be carriers of a mutation in one copy of the FANCD2 gene to have a child with Fanconi Anemia, Group D2. People who are carriers for Fanconi Anemia, Group D2, are usually healthy and do not have symptoms nor do they have Fanconi Anemia themselves. Usually a child inherits two copies of each gene, one copy from the mother and one copy from the father. If the mother and father are both carriers for Fanconi Anemia, Group D2, there is a 1 in 4, or 25%, chance in each pregnancy for both partners to pass on their FANCD2 gene mutations to the child, who will then have this condition. Individuals found to carry more than one mutation for Fanconi Anemia, Group D2 should discuss their risk for having an affected child, and any potential effects to their own health, with their health care provider. There are a number of other forms of Fanconi Anemia, each caused by mutations in different genes. A person who is a carrier for Fanconi Anemia, Group D2 is not likely to be at increased risk for having a child with these other forms of Fanconi Anemia. |
|
FANCE (NM_021922.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Fanconi Anemia, Group E? Fanconi Anemia, Group E is an inherited disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. Currently there is no cure for this condition and treatment is based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Fanconi Anemia, Group E? Fanconi Anemia, Group E is caused by a gene change, or mutation in both copies of the FANCE gene pair. These mutations cause the genes to not work properly or not work at all. The job of the FANCE genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death and/or uncontrolled cell growth which leads to the symptoms described above. |
|
FANCF (NM_022725.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Fanconi Anemia, Group F? Fanconi Anemia, Group F is an inherited disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. Currently there is no cure for this condition and treatment is based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Fanconi Anemia, Group F? Fanconi Anemia, Group F is caused by a gene change, or mutation in both copies of the FANCF gene pair. These mutations cause the genes to not work properly or not work at all. The job of the FANCF genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death and/or uncontrolled cell growth which leads to the symptoms described above. Fanconi Anemia, Group F is inherited in an autosomal recessive manner. This means that, in most cases, both parents must be carriers of a mutation in one copy of the FANCF gene to have a child with Fanconi Anemia, Group F. People who are carriers for Fanconi Anemia, Group F, are usually healthy and do not have symptoms nor do they have Fanconi Anemia themselves. Usually a child inherits two copies of each gene, one copy from the mother and one copy from the father. If the mother and father are both carriers for Fanconi Anemia, Group F, there is a 1 in 4, or 25%, chance in each pregnancy for both partners to pass on their FANCF gene mutations to the child, who will then have this condition. Individuals found to carry more than one mutation for Fanconi Anemia, Group F should discuss their risk for having an affected child, and any potential effects to their own health, with their health care provider. There are a number of other forms of Fanconi Anemia, each caused by mutations in different genes. A person who is a carrier for Fanconi Anemia, Group F is not likely to be at increased risk for having a child with these other forms of Fanconi Anemia. |
Fanconi Anemia, Group G
|
FANCG (NM_004629.1) |
African American |
1 in 100 |
1 in 9901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
FANCG (NM_ 004629.1) |
African American |
1 in 100 |
1 in 1981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Fanconi Anemia, Group G?
Fanconi Anemia, Group G is an autosomal recessive disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Fanconi Anemia, Group G?
Fanconi Anemia, Group G is caused by a gene change, or mutation, in both copies of the FANCG gene pair. These mutations cause the genes to not work properly or not work at all. The function of the FANCG genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death or uncontrolled cell growth which leads to the symptoms described above. |
|
FANCI (NM_001113378.1) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Fanconi Anemia, Group I? Fanconi Anemia, Group I is an inherited disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. Currently there is no cure for this condition and treatment is based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Fanconi Anemia, Group I? Fanconi Anemia, Group I is caused by a gene change, or mutation in both copies of the FANCI gene pair. These mutations cause the genes to not work properly or not work at all. The job of the FANCI genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death and/or uncontrolled cell growth which leads to the symptoms described above. |
Fanconi Anemia, Group J
|
BRIP1 (NM_032043.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
FANCL (NM_018062.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Fanconi Anemia, Group L? Fanconi Anemia, Group L is an inherited disorder that causes bone marrow failure, increased risk for cancer, and physical findings such as irregular skin coloring, malformed thumbs or forearms, short stature, kidney/urinary problems, and heart defects. Currently there is no cure for this condition and treatment is based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Fanconi Anemia, Group L? Fanconi Anemia, Group L is caused by a gene change, or mutation in both copies of the FANCL gene pair. These mutations cause the genes to not work properly or not work at all. The job of the FANCL genes is to help repair DNA within cells. When both copies of this gene pair do not work correctly, it can cause cell death and/or uncontrolled cell growth which leads to the symptoms described above. |
Fanconi Anemia, Type A
|
FANCA (NM_000135.2) |
General population |
1 in 345 |
1 in 1434 |
76% |
|
Sephardic Jewish - Moroccan, Tunisian |
1 in 133 |
1 in 2641 |
>95% |
Spanish Roma |
1 in 64 |
1 in 1261 |
>95% |
|
Fanconi Anemia, Type C
|
FANCC (NM_000136.2) |
Ashkenazi Jewish |
1 in 89 |
1 in 1761 |
>95% |
|
General population |
1 in 417 |
1 in 8321 |
>95% |
|
Fanconi Anemia, Type G
|
FANCG (NM_004629.1) |
African American |
1 in 100 |
1 in 1981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Farber Lipogranulomatosis
|
ASAH1 (NM_177924.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Farber Lipogranulomatosis? Farber Lipogranulomatosis is an inherited disorder in which fat cannot be processed properly by the body. This leads to the buildup of fat nodules (granulomas), especially in and around the joints and the voice box (larynx). The most common form of Farber Lipogranulomatosis starts in early infancy and causes painful, misshapen joints, and a hoarse voice. Most children with this common early-onset form don't survive past two years of age. In some cases, children with Farber Lipogranulomatosis have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. There are also a number of other rare forms of Farber Lipogranulomatosis with later ages-of-onset, milder joint and voice problems, and various other symptoms. Sometimes, mutations in the same gene cause a related disorder, Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME). Symptoms of SMA-PME usually start in early-to-mid childhood with muscle weakness in the legs; followed by seizures, tremors, and hearing loss. As the disorder progresses it leads to a decreased ability to breathe, and continuing muscle weakness. Symptoms usually start in early-to-mid childhood. Severe breathing difficulties lead to shortened life span. Currently there is no cure for this condition and treatment is based on symptoms. The information below is about the more common condition, Farber Lipogranulomatosis; however, SMA-PME is inherited in the same manner and has the same reproductive options. What causes Farber Lipogranulomatosis? Farber Lipogranulomatosis is caused by a gene change, or mutation, in both copies of the ASAH1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Foveal Hypoplasia
|
SLC38A8 (NM_001080442.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Fragile X Syndrome
|
FMR1 (NM_001185076.1) |
African American |
1 in 251 |
1 in 5001 |
>95% |
|
Ashkenazi Jewish |
1 in 58 |
1 in 1141 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 178 |
1 in 3541 |
>95% |
General population |
1 in 250 |
1 in 4981 |
>95% |
Hispanic |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
FMR1 (NM_ 001185076.1) |
African American |
1 in 251 |
1 in 5001 |
>95% |
|
Ashkenazi Jewish |
1 in 58 |
1 in 1141 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 178 |
1 in 3541 |
>95% |
Hispanic |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
1 in 250 |
1 in 4981 |
>95% |
What is Fragile X Syndrome?
Fragile X Syndrome is an X-linked inherited disorder. It is the most common inherited cause of intellectual disability and occurs in about 1 in 4000 males and 1 in 8000 females.
Boys with Fragile X Syndrome typically have more serious learning and behavior problems than girls. On average, boys have moderate to severe intellectual disability. Behavior and emotional problems are common, and autism spectrum disorder is sometimes present. Symptoms in girls can range from none to severe intellectual disability; however, they are most likely to be mild. At this time there is no cure for Fragile X Syndrome and treatment is based on symptoms.
What causes Fragile X Syndrome?
Fragile X Syndrome is caused by a mutation (change) in the FMR1 gene known as a CGG repeat. Humans typically have between 6 and 44 copies of CGG in the FMR1 gene. In people with Fragile X Syndrome, there are more than 200 copies of CGG. The large number of repeated CGGs causes the gene to turn off and not work properly. This leads to the specific set of learning and development problems found in Fragile X Syndrome.
A carrier for Fragile X Syndrome is someone who has a mutation (change) in one FMR1 gene. This change is called a ‘premutation’ and has between 55 and 200 CGG copies. Women who are premutation carriers have an increased chance of having children affected with Fragile X Syndrome. Occasionally, females with a premutation may have issues related to attention span such as Attention Deficit Disorder and some may have behavior problems, social anxiety, and/or difficulty with social skills. Males with a premutation tend to have a higher rate of these types of problems. |
Fragile X Syndrome
|
FMR1 (NM_002024.5) |
African American |
1 in 251 |
1 in 25001 |
99% |
|
Ashkenazi Jewish |
1 in 58 |
1 in 5701 |
99% |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
Caucasian |
1 in 178 |
1 in 17701 |
99% |
General population |
1 in 250 |
1 in 24901 |
99% |
Hispanic |
< 1 in 500 |
1 in 49901 |
99% |
|
|
AFF2 (NM_002025.4) |
General population |
1 in 18750 |
1 in 1874901 |
99% |
|
What is fragile XE syndrome? Fragile XE syndrome is a form of inherited neurological condition that affects biological males more often than biological females. Males with fragile XE syndrome usually have mild intellectual disability or learning disabilities. Some have delayed speech and problems with communication and writing. Behavior problems such as hyperactivity and short attention span are common. Some have autistic-like behaviors that may include repetitive movements, hand flapping, and obsessive interest in certain topics. Females with fragile XE syndrome often have no symptoms at all. Occasionally they have some symptoms which are typically less severe than those seen in affected males. At this time there is no cure for fragile XE syndrome and treatment is based on symptoms. What causes fragile XE syndrome? Fragile XE syndrome is an X-linked condition. It is caused by a change (mutation) in a gene called AFF2 located on the X chromosome. The mutation in the AFF2 gene that causes fragile XE syndrome is called a CCG expansion. Humans typically have between 4 and 40 copies of CCG in the AFF2 gene. In people with fragile XE syndrome, there are more than 200 copies of CCG. The large number of repeated CCGs causes the gene to not work properly. This leads to the specific set of learning and behavior problems found in fragile XE syndrome. A carrier for fragile XE syndrome is someone who has a moderate CCG expansion in one AFF2 gene. This change is called a “premutation” and has between 50 and 200 CCG copies. Carriers do not have fragile XE syndrome. However, female carriers have an increased chance of having children with more than 200 GCC copies who will be affected with fragile XE syndrome. |
Fraser Syndrome 3, GRIP1-Related
|
GRIP1 (NM_021150.4) |
General population |
1 in 223 |
1 in 22201 |
99% |
|
What is Fraser syndrome 3, GRIP1-related? Fraser syndrome 3, GRIP1-related, is an inherited condition that causes specific birth defects of the eyes, skin, genitals, and urinary tract. Symptoms and severity can vary from person to person. Babies with Fraser syndrome 3, GRIP1-related, may have eyes that are completely or partially covered by skin (cryptophthalmos), are very small (microphthalmia), or are missing (anophthalmia). The skin between the fingers and toes may be webbed (cutaneous syndactyly) and the opening to the anus may be blocked or missing. Fraser syndrome can be associated with birth defects of the arms and legs, kidneys, genitals, urinary tract, respiratory tract, heart, skeleton, liver, face, or ears. People with Fraser syndrome can also have intellectual disability and hearing loss. Currently there is no cure for Fraser syndrome 3, GRIP1-related, and treatment is based on symptoms. What causes Fraser syndrome 3, GRIP1-related? Fraser syndrome 3, GRIP1-related, is caused by a change, or mutation, in both copies of the GRIP1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Fraser Syndrome, Fras1-Related
|
FRAS1 (NM_025074.6) |
General population |
1 in 316 |
1 in 31500 |
99% |
|
|
Fraser Syndrome, Frem2-Related
|
FREM2 (NM_207361.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
FXN (NM_000144.4) |
Caucasian |
1 in 85 |
1 in 2101 |
96% |
|
General population |
1 in 250 |
1 in 6226 |
96% |
What is Friedreich ataxia? Friedreich ataxia is an inherited condition that causes problems with movement (ataxia) that worsen over time. Symptoms often start in early to late childhood. People with Friedreich ataxia develop coordination and balance problems, muscle weakness and stiffness (spasticity), and loss of sensation in the arms and legs. The ability to walk is affected and over time some people will need the use of a wheelchair. Other symptoms may include difficulties with speech and gradual loss of vision and/or hearing. An enlarged, weakened heart muscle (hypertrophic cardiomyopathy) is found in about two-thirds of people with Friedreich ataxia and diabetes occurs in about a third. Some people have a late-onset form of Friedreich ataxia with symptoms that don’t start until after age 25. Rarely, a very late-onset form occurs, with symptoms starting after age 40. These later-onset forms have symptoms that progress more slowly than the typical childhood-onset form. Currently there is no cure for Friedreich ataxia and treatment is based on symptoms. What causes Friedreich ataxia? Friedreich ataxia is caused by a gene change, or mutation, in both copies of the FXN gene pair. The mutation in the FXN gene pair that usually causes Friedreich ataxia is called a GAA expansion. Humans typically have 33 or fewer copies of GAA in each FXN gene. People with Friedreich ataxia typically have 66 or more copies of GAA in each of their two FXN genes - this is called an expanded, or full penetrance, mutation. The large number of repeated GAAs cause the gene to not work properly or not work at all. A small number of people with Friedreich ataxia have a GAA expansion in one copy of their FXN gene and a different kind of mutation in their other copy of the FXN gene which stops it from working correctly. When both copies of the FXN gene do not work correctly, it leads to the symptoms described above. |
Fructose-1,6-Bisphosphatase Deficiency
|
FBP1 (NM_000507.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Fucosidosis, Fuca1-Related
|
FUCA1 (NM_000147.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Fumarase Deficiency
|
FH (NM_000143.3) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
|
Fumarase Deficiency
|
FH (NM_000143.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
|
FH (NM_ 000143.3) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
What is Fumarase Deficiency?
Fumarase Deficiency is an autosomal recessive disorder that affects the brain and nervous system. Signs and symptoms begin in infancy and include small head size, abnormal brain development, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). Affected infants may also have seizures, intellectual disability, unusual facial features, and enlarged liver and spleen (hepatosplenomegaly). Death often occurs in infancy but some individuals survive to early adulthood. Currently there is no cure or specific treatment for Fumarase Deficiency.
What causes Fumarase Deficiency?
Fumarase Deficiency is caused by a gene change, or mutation, in both copies of the FH gene pair. These mutations cause the genes to not work properly or not work at all. The function of the FH gene is to help the cells in the body use oxygen and make energy. When both copies of this gene pair do not work correctly, it leads to problems in brain development and causes the symptoms described above.
Individuals who are carriers for one mutation in the FH gene have an increased risk for developing multiple skin and uterine growths called leiomyomas. A small number of carriers of an FH mutation may have an autosomal dominant condition called Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). Symptoms of HLRCC usually begin in early adulthood and include benign growths (leiomyomas) in the skin and uterus, and an increased risk for a specific type of kidney cancer called papillary renal cell cancer. |
GABA-Transaminase Deficiency
|
ABAT (NM_020686.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is GABA-Transaminase Deficiency? GABA-Transaminase Deficiency is an inherited disorder that causes damage to the brain and nervous system starting in infancy. Lack of a certain enzyme in the body leads to a toxic buildup of a building block of protein called glycine. Babies with this disorder often have extreme tiredness, feeding problems, weak muscle tone, increased reflexes, jerking movements, and seizures. They may grow quickly in length but are typically underweight. Many babies with this disorder die in infancy or early childhood. Those that survive usually have severe intellectual disability. Currently there is no cure for this condition and treatment is based on symptoms. What causes GABA-Transaminase Deficiency? GABA-Transaminase Deficiency is caused by a gene change, or mutation, in both copies of the ABAT gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
GM1 Gangliosidosis
|
GLB1 (NM_000404.2) |
Caucasian |
1 in 278 |
1 in 5541 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
>95% |
Roma |
1 in 50 |
1 in 981 |
>95% |
South Brazil |
1 in 58 |
1 in 1141 |
>95% |
|
GRACILE Syndrome
|
BCS1L (NM_ 001257342.1) |
Caucasian |
1 in 407 |
1 in 8121 |
>95% |
|
Finnish |
1 in 108 |
1 in 2141 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
BCS1L (NM_ 001257342.1) |
Caucasian |
1 in 407 |
1 in 8121 |
>95% |
|
Finnish |
1 in 108 |
1 in 2141 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is GRACILE Syndrome?
GRACILE Syndrome is an autosomal recessive disorder in which the parts of the cells in the body that make energy (the mitochondria) do not work properly. GRACILE Syndrome stands for Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death. Signs and symptoms begin during pregnancy and continue in infancy and include failure to grow and gain weight at the normal rate. Iron builds up in the liver leading to liver damage. Affected infants also have a buildup of a toxic substance called lactic acid in the blood. Kidney problems also develop. Due to the severe health problems caused by GRACILE Syndrome, affected infants usually die within the first days or months of life.
Sometimes, changes, or mutations, in the same gene cause one of a number of different inherited disorders – either Mitochondrial Respiratory Chain Complex III Deficiency, Leigh Syndrome, or Bjornstad Syndrome. Currently there is no cure for any of these conditions and treatment is based on symptoms.
What causes GRACILE Syndrome?
GRACILE Syndrome is caused by mutations in both copies of the BCS1L gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the BCS1L gene do not work correctly, the mitochondria do not work properly, leading to the symptoms described above. |
GRACILE Syndrome
|
BCS1L (NM_004328.4) |
Caucasian |
1 in 407 |
1 in 40601 |
99% |
|
Finnish |
1 in 108 |
1 in 10701 |
99% |
General population |
1 in 111 |
1 in 11001 |
99% |
|
Galactokinase Deficiency
|
GALK1 (NM_000154.1) |
Asian |
<1 in 500 |
1 in 4991 |
90% |
|
General population |
1 in 122 |
1 in 2421 |
>95% |
Roma |
1 in 47 |
1 in 921 |
>95% |
|
Galactokinase Deficiency (Galactosemia, Type II)
|
GALK1 (NM_ 000154.1) |
Asian |
1 in 500 |
1 in 4991 |
90% |
|
Roma |
1 in 47 |
1 in 921 |
>95% |
General population |
1 in 122 |
1 in 2421 |
>95% |
What is Galactokinase Deficiency (Galactosemia, Type II)?
Galactokinase Deficiency, also known as Galactosemia, Type II, is an autosomal recessive condition in which the body cannot digest a type of sugar called galactose. Galactose is found in milk and dairy products as well as some fruits and vegetables. If children with Galactokinase Deficiency eat food containing galactose, it builds up in the blood and will cause cataracts (clouding of the lens of the eye). When the condition is found and treated early, cataracts usually don’t develop. Treatment usually includes a medical diet low in galactose along with specific supplements.
What causes Galactokinase Deficiency (Galactosemia, Type II)?
Galactokinase Deficiency is caused by a gene change, or mutation, in both copies of a gene called GALK1. These mutations cause the genes to not work properly or not work at all. The GALK1 gene pair is needed to help the body break down the sugar called galactose. When both copies of the GALK1 gene do not work correctly, galactose builds up in the body and can cause cataracts. |
Galactokinase Deficiency (Galactosemia, Type II)
|
GALK1 (NM_000154.1) |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
1 in 122 |
1 in 12101 |
99% |
Roma |
1 in 47 |
1 in 4601 |
99% |
|
Galactosemia
|
GALT (NM_000155.3) |
African American |
1 in 78 |
1 in 7701 |
99% |
|
Ashkenazi Jewish |
1 in 172 |
1 in 17101 |
99% |
Caucasian |
1 in 108 |
1 in 10701 |
99% |
East Asian |
< 1 in 500 |
1 in 49901 |
99% |
General population |
1 in 110 |
1 in 10901 |
99% |
Hispanic |
1 in 305 |
1 in 30401 |
99% |
Irish Travellers |
1 in 11 |
1 in 1001 |
99% |
|
Galactosemia
|
GALT (NM_000155.3) |
African American |
1 in 87 |
1 in 1721 |
>95% |
|
Ashkenazi Jewish |
1 in 156 |
1 in 3101 |
>95% |
Caucasian |
1 in 152 |
1 in 3021 |
>95% |
General population |
1 in 112 |
1 in 2221 |
>95% |
Hispanic |
1 in 305 |
1 in 6081 |
>95% |
Irish Travellers |
1 in 11 |
1 in 201 |
>95% |
|
|
GALT (NM_ 000155.3) |
African American |
1 in 87 |
1 in 1721 |
>95% |
|
Ashkenazi Jewish |
1 in 156 |
1 in 3101 |
>95% |
Caucasian |
1 in 152 |
1 in 3021 |
>95% |
Hispanic |
1 in 305 |
1 in 6081 |
>95% |
Irish Travellers |
1 in 11 |
1 in 201 |
>95% |
General population |
1 in 112 |
1 in 2221 |
>95% |
What is Galactosemia?
Galactosemia is an autosomal recessive disorder that affects how the body breaks down a sugar called galactose. Galactose is present in many foods including dairy products. For individuals with Galactosemia, the body cannot use galactose to make energy. Unless treatment is started early in life, a toxic buildup of certain sugars happens in the body leading to health problems.
Affected children may have classic or variant Galactosemia. Treatment of classic Galactosemia usually involves a galactose and lactose free diet. Without treatment, classic Galactosemia is associated with life-threatening complications that can appear within days after birth. Affected infants typically develop feeding problems, a lack of energy (lethargy), failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and bleeding. Affected children may also have delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Children with variant Galactosemia can have milder symptoms and may require less treatment than children with classic Galactosemia. With treatment many children with Galactosemia can lead healthy lives.
What causes Galactosemia?
Galactosemia is caused by a gene change, or mutation, in both copies of the GALT gene pair. These mutations cause the genes to not work properly or not work at all. The function of the GALT genes is to break down the sugar galactose in the body that comes from food. When both copies of this gene do not work correctly it leads to the symptoms described above. |
|
CTSA (NM_000308.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Galactosialidosis? Galactosialidosis, also known as Goldberg Syndrome, is an inherited disorder that affects the nervous system as well as other parts of the body. There are number of forms of this condition that vary in age of onset and severity. Babies with the early infantile form often have fluid buildup in their bodies before birth (hydrops fetalis), inguinal hernias, and enlarged liver and spleen. Affected babies may also have abnormalities of the bones, enlarged heart, and progressive kidney disease. Babies with this form of Galactosialidosis often die in infancy. The late infantile form of Galactosialidosis has similar symptoms to the early infantile form, but they are typically less severe and start later in infancy. Symptoms may include short stature, bone abnormalities, defects of the heart valves, enlarged liver and spleen, and intellectual disability. Life span may be shortened depending on the severity of symptoms. Signs and symptoms of the juvenile/adult form of Galactosialidosis start anywhere from childhood to adulthood and may include coordination and walking problems (ataxia), muscle spasms (myoclonus), seizures, and intellectual disability that worsens over time. Affected individuals may also have spine abnormalities, and vision and/or hearing loss. Life span for this form of Galactosialidosis is typically normal. Currently there is no cure for any form of this disorder and treatment is based on symptoms. What causes Galactosialidosis? Galactosialidosis is caused by a change, or mutation, in both copies of the CTSA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CTSA gene do not work correctly, it leads to the symptoms described above. |
|
GBA (NM_001005741.2) |
Ashkenazi Jewish |
1 in 15 |
1 in 281 |
>95% |
|
Caucasian |
1 in 164 |
1 in 495 |
67% |
General population |
1 in 158 |
1 in 358 |
56% |
What is Gaucher Disease?
Gaucher Disease is an autosomal recessive disorder that commonly affects the liver, spleen, and bone marrow. Gaucher Disease, Type 1 is the most common form of the disease and causes enlarged liver and spleen with bone abnormalities. Gaucher Types 2 and 3 cause brain and nervous system problems such as seizures and low muscle tone (hypotonia) in addition to the other symptoms listed above. Lifelong enzyme replacement therapy can help prevent or lessen some of the symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Recent studies suggest that carriers for Gaucher Disease may have a slightly increased risk of developing Parkinson’s disease in late adulthood; however, most carriers never develop this condition.
What causes Gaucher Disease?
Gaucher Disease is caused by a gene change, or mutation, in both copies of the GBA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Gaucher Disease
|
GBA (NM_001005741.2) |
Ashkenazi Jewish |
1 in 18 |
1 in 1701 |
99% |
|
Caucasian |
1 in 164 |
1 in 16301 |
99% |
General population |
1 in 153 |
1 in 15201 |
99% |
|
Gaucher Disease
|
GBA (NM_000157.3) |
Ashkenazi Jewish |
1 in 15 |
1 in 281 |
>95% |
|
Caucasian |
1 in 164 |
1 in 495 |
67% |
General population |
1 in 158 |
1 in 358 |
56% |
|
Gch1-Related Conditions
|
GCH1 (NM_000161.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Gdf5-Related Conditions
|
GDF5 (NM_000557.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Geroderma Osteodysplastica
|
GORAB (NM_152281.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Gitelman Syndrome
|
SLC12A3 (NM_000339.2) |
General population |
1 in 100 |
1 in 1981 |
>95% |
|
|
|
SLC12A3 (NM_ 000339.2) |
General population |
1 in 100 |
1 in 1981 |
>95% |
|
What is Gitelman Syndrome?
Gitelman Syndrome is an autosomal recessive disorder that causes kidney problems. In people with Gitelman Syndrome, the kidneys cannot filter certain substances correctly from the blood to urine. This leads to an imbalance of potassium, magnesium, and calcium in the blood. The signs and symptoms of Gitelman Syndrome vary from person to person and are often mild. Symptoms usually appear in late childhood or the teenage years and may include painful muscle spasms, muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin, most often on the face. Some people also have chronic tiredness, low blood pressure, an abnormal heart rhythm, and a painful joint condition called chondrocalcinosis. Treatment with magnesium salt supplements is effective in preventing or lessening the symptoms, although most people with Gitelman Syndrome never need treatment.
Carriers of Gitelman Syndrome may have lower than average blood pressure but do not typically have other symptoms.
What causes Gitelman Syndrome?
Gitelman Syndrome is most often caused by a gene change, or mutation, in both copies of the SLC12A3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Gitelman Syndrome
|
SLC12A3 (NM_000339.2) |
General population |
1 in 100 |
1 in 9901 |
99% |
|
|
Glanzmann Thrombasthenia
|
ITGB3 (NM_000212.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Glucose-6-Phosphate Dehydrogenase Deficiency
|
G6PD (NM_001042351.2) |
General population |
1 in 30 |
1 in 2901 |
99% |
|
African American |
1 in 5 |
1 in 401 |
99% |
What is Glucose-6-Phosphate Dehydrogenase Deficiency? Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency) is an inherited disorder of the blood that affects mainly males. Males with G6PD Deficiency are missing an enzyme that protects red blood cells. When this enzyme is absent, red blood cells tend to break down too quickly (called hemolysis), leading to anemia - too little oxygen in the blood. Boys with G6PD Deficiency often have repeated episodes of anemia. The anemia causes pale skin, jaundice (yellowing of skin and eyes), breathing problems, extreme tiredness, and/or fast heart rate. The anemia can be triggered by infections, specific medications, the chemical in moth balls, or eating fava beans. The symptoms of G6PD Deficiency vary from person to person and some affected males never have symptoms. Currently there is no cure for G6PD Deficiency. However, episodes of anemia can be prevented or lessened by preventing infections or treating them early and avoiding fava beans, moth balls, and the triggering medications. What causes Glucose-6-Phosphate Dehydrogenase Deficiency? G6PD Deficiency is caused by a change, or mutation, in the G6PD gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in males it leads to the symptoms described above. |
Glutaric Acidemia, Type 1
|
GCDH (NM_000159.3) |
African American |
1 in 36 |
1 in 3501 |
99% |
|
Caucasian |
1 in 172 |
1 in 17101 |
99% |
General population |
1 in 112 |
1 in 11101 |
99% |
Lancaster County Amish |
1 in 9 |
1 in 1001 |
99% |
Lumbee Native Americans |
1 in 16 |
1 in 1501 |
99% |
Oji-Cree First Nations (N. Manitoba) |
1 in 8 |
1 in 701 |
99% |
|
Glutaric Acidemia, Type 1
|
GCDH (NM_ 000159.3) |
African American |
1 in 36 |
1 in 701 |
>95% |
|
Caucasian |
1 in 172 |
1 in 3421 |
>95% |
Lumbee Native Americans |
1 in 16 |
1 in 301 |
>95% |
Oji-Cree First Nations - N. Manitoba |
1 in 8 |
1 in 141 |
>95% |
Amish - Pennsylvania |
1 in 11 |
1 in 201 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Glutaric Acidemia, Type 1?
Glutaric Acidemia, Type 1 (also called Glutaryl-CoA Dehydrogenase Deficiency) is an autosomal recessive disorder that causes the body to be unable to break down certain proteins from food for use in the body. Signs and symptoms of Glutaryl-CoA Dehydrogenase Deficiency, Type 1 usually begin between age 4 months and 2 years and include fatigue, irritability, weak muscle tone, growth delay poor appetite, vomiting, fever, tight muscles, and excessive sweating. Some affected children have intellectual disability. The problems associated with Glutaryl-CoA Dehydrogenase Deficiency. Type 1 may worsen after going a long time without food or with illness. With early diagnosis and treatment, affected children can have healthy growth and development.
What causes Glutaric Acidemia, Type 1?
Glutaric Acidemia, Type 1 is caused by a gene change, or mutation, in both copies of the GCDH gene. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms describe above. |
Glutaric Acidemia, Type 2A
|
ETFA (NM_ 000126.3) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
What is Glutaric Acidemia, Type 2A?
Glutaric Acidemia, Type 2A is an autosomal recessive disorder that causes the body to be unable to break down certain fats and proteins from food to make energy. Signs and symptoms of Glutaric Acidemia, Type 2A usually begin in infancy and include fatigue, irritability, weak muscle tone, a “sweaty feet” smell, feeding problems, vomiting, diarrhea, and low blood sugar. Infants born with this condition may have kidney defects, enlarged liver, abnormal brain development, and genital abnormalities. The problems associated with Glutaric Acidemia, Type 2A may worsen with going a long time without food or with illness and can be life-threatening. In some cases symptoms are milder and begin later in childhood or adulthood. With early diagnosis and treatment, some of the more severe problems in Glutaric Acidemia, Type 2A may be avoided.
What causes Glutaric Acidemia, Type 2A?
Glutaric Acidemia, Type 2A is caused by a gene change, or mutation, in both copies of the ETFA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms describe above. |
Glutaric Acidemia, Type 2A
|
ETFA (NM_000126.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Glutaric Acidemia, Type 2B
|
ETFB(NM_001985.2) |
General population |
1 in 408 |
1 in 40701 |
99% |
|
What is Glutaric Acidemia, Type 2B? Glutaric Acidemia, Type 2B is a disorder in which the body cannot break down certain fats and proteins from food to make energy. Signs and symptoms of Glutaric Acidemia, Type 2B usually begin in infancy and include tiredness, irritability, weak muscle tone, a "sweaty feet" smell, feeding problems, vomiting, diarrhea, and low blood sugar. Infants born with this condition may have birth defects of the kidneys, enlarged liver, abnormal brain development, and genital abnormalities. The problems associated with Glutaric Acidemia, Type 2B may worsen after going a long time without food (fasting) or with illness and can be life-threatening. In some cases symptoms are milder and begin later in childhood or adulthood. With early diagnosis and treatment, some of the more severe problems in Glutaric Acidemia, Type 2B may be avoided. What causes Glutaric Acidemia, Type 2B? Glutaric Acidemia, Type 2B is caused by a gene change, or mutation, in both copies of the ETFB gene pair. These mutations cause the genes to not work properly or not work at all. The job of the ETFB genes is to help break down fats and proteins to make energy for the body. When both copies of this gene do not work properly, it leads to a buildup of toxic substances in the body and causes the symptoms describe above. |
Glutaric Acidemia, Type 2C
|
ETFDH (NM_004453.3) |
Asian |
1 in 87 |
1 in 8601 |
99% |
|
General population |
1 in 250 |
1 in 24901 |
99% |
|
Glutaric Acidemia, Type 2C
|
ETFDH (NM_ 004453.3) |
Asian |
1 in 87 |
1 in 1434 |
94% |
|
General population |
1 in 250 |
1 in 4981 |
>95% |
What is Glutaric Acidemia, Type 2C?
Glutaric Acidemia, Type 2C is an autosomal recessive disorder that causes the body to be unable to break down certain fats and proteins from food to make energy. Signs and symptoms of Glutaric Acidemia, Type 2C usually begin in infancy and include fatigue, irritability, weak muscle tone, a “sweaty feet” smell, feeding problems, vomiting, diarrhea, and low blood sugar. Infants born with this condition may have kidney defects, enlarged liver, abnormal brain development, and genital abnormalities. The problems associated with Glutaric Acidemia, Type 2C may worsen with going a long time without food or with illness and can be life-threatening. In some cases symptoms are milder and begin later in childhood or adulthood. With early diagnosis and treatment, some of the more severe problems in Glutaric Acidemia, Type 2C may be avoided.
What causes Glutaric Acidemia, Type 2C?
Glutaric Acidemia, Type 2C is caused by a gene change, or mutation, in both copies of the ETFDH gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms describe above. |
Glutaric Acidemia, Type I
|
GCDH (NM_000159.3) |
African American |
1 in 36 |
1 in 701 |
>95% |
|
Caucasian |
1 in 172 |
1 in 3421 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
Lancaster County Amish |
1 in 11 |
1 in 201 |
>95% |
Lumbee Native Americans |
1 in 16 |
1 in 301 |
>95% |
Oji-Cree First Nations (N. Manitoba) |
1 in 8 |
1 in 141 |
>95% |
|
Glutaric Acidemia, Type IIA
|
ETFA (NM_000126.3) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
|
Glutaric Acidemia, Type IIC
|
ETFDH (NM_004453.3) |
Asian |
1 in 87 |
1 in 1434 |
94% |
|
General population |
1 in 250 |
1 in 4981 |
>95% |
|
Glutathione Synthetase Deficiency
|
GSS (NM_000178.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Glycine Encephalopathy, AMT-Related
|
AMT (NM_000481.3) |
Caucasian |
1 in 271 |
1 in 4501 |
94% |
|
General population |
1 in 319 |
1 in 6361 |
>95% |
|
Glycine Encephalopathy, AMT-Related
|
AMT (NM_ 000481.3) |
Caucasian |
1 in 271 |
1 in 4501 |
94% |
|
General population |
1 in 319 |
1 in 6361 |
>95% |
What is Glycine Encephalopathy, AMT-Related?
Glycine Encephalopathy, AMT-Related, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder that mainly affects the brain and nervous system. It causes a toxic buildup in the body of a building block of protein called glycine. Affected individuals usually have symptoms shortly after birth including extreme tiredness, feeding problems, weak muscle tone, jerking movements, and breathing problems that worsen and become life-threatening. Many affected children die in infancy. Children who survive with Glycine Encephalopathy, AMT-Related have intellectual disability, seizures, and abnormal movements. Affected males may have greater chance of survival than affected females. Some affected individuals have a milder disease with symptoms that begin in childhood or adulthood.
What causes Glycine Encephalopathy, AMT-Related?
Glycine Encephalopathy, AMT-Related is caused by a gene change, or mutation, in both copies of the AMT gene pair. These mutations cause the genes to not work properly or not work at all. The function of the AMT gene pair is to break down glycine (a building block of protein) in the body. When both copies of this gene do not work correctly, it leads to a buildup of glycine in the body, especially the brain, which causes the symptoms described above. |
Glycine Encephalopathy, AMT-Related
|
AMT (NM_000481.3) |
Caucasian |
1 in 271 |
1 in 27001 |
99% |
|
General population |
1 in 262 |
1 in 26101 |
99% |
|
Glycine Encephalopathy, GLDC-Related
|
GLDC (NM_000170.2) |
Caucasian |
1 in 140 |
1 in 13901 |
99% |
|
General population |
1 in 135 |
1 in 13401 |
99% |
|
Glycine Encephalopathy, GLDC-Related
|
GLDC (NM_000170.2) |
Caucasian |
1 in 140 |
1 in 410 |
66% |
|
General population |
1 in 165 |
1 in 966 |
83% |
|
Glycine Encephalopathy, GLDC-Related
|
GLDC (NM_ 000170.2) |
Caucasian |
1 in 140 |
1 in 410 |
66% |
|
General population |
1 in 165 |
1 in 966 |
83% |
What is Glycine Encephalopathy, GLDC-Related?
Glycine Encephalopathy, GLDC-Related, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder that causes damage to the brain and nervous system. Lack of a certain enzyme in the body leads to a toxic buildup in the body of a building block of protein called glycine. Affected individuals usually have symptoms shortly after birth including extreme tiredness, feeding problems, weak muscle tone, jerking movements, and breathing problems that worsen and become life-threatening. Many affected children die in infancy. Children who survive with Glycine Encephalopathy, GLDC-Related have intellectual disability, seizures, and abnormal movements. Affected males may have greater chance of survival than affected females. Some affected individuals have a milder disease with symptoms that begin in childhood or adulthood.
What causes Glycine Encephalopathy, GLDC-Related?
Glycine Encephalopathy, GLDC-Related is caused by a gene change, or mutation, in both copies of the GLDC gene pair. These mutations cause the genes to not work properly or not work at all. The function of the GLDC genes is to breakdown glycine (a building block of protein) in the body. When both copies of this gene pair do not work correctly, it leads to a buildup of glycine in the body, especially the brain, which causes the symptoms described above. |
Glycogen Storage Disease Type Ixb
|
PHKB (NM_000293.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Glycogen Storage Disease Type Ixc
|
PHKG2 (NM_000294.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Glycogen Storage Disease, Type 1a
|
G6PC (NM_ 000151.3) |
Ashkenazi Jewish |
1 in 71 |
1 in 1401 |
>95% |
|
Asian |
1 in 192 |
1 in 3821 |
>95% |
Caucasian |
1 in 177 |
1 in 1957 |
91% |
General population |
1 in 261 |
1 in 5201 |
>95% |
What is Glycogen Storage Disease, Type 1a?
Glycogen Storage Disease, Type 1a (GSD1a), is an autosomal recessive disorder with signs and symptoms that begin in infancy. Fat and glycogen (stored sugar) build up in the liver and kidneys and cause enlarged liver and kidney problems. Other symptoms include growth problems, low blood sugar (hypoglycemia), and sometimes seizures. Currently there is no cure for this condition. However, if started early, medical treatment, including a special medical diet and medications, can help prevent or lessen some of the symptoms.
What causes Glycogen Storage Disease, Type 1a?
Glycogen Storage Disease, Type 1a is caused by a gene change, or mutation, in both copies of the G6PC gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms listed above. |
Glycogen Storage Disease, Type 1a
|
G6PC (NM_000151.3) |
Ashkenazi Jewish |
1 in 71 |
1 in 7001 |
99% |
|
Asian |
1 in 192 |
1 in 19101 |
99% |
Caucasian |
1 in 177 |
1 in 17601 |
99% |
General population |
1 in 177 |
1 in 17601 |
99% |
|
Glycogen Storage Disease, Type 1a
|
G6PC (NM_000151.3) |
Ashkenazi Jewish |
1 in 71 |
1 in 1401 |
>95% |
|
Asian |
1 in 192 |
1 in 3821 |
>95% |
Caucasian |
1 in 177 |
1 in 1957 |
91% |
General population |
1 in 261 |
1 in 5201 |
>95% |
|
Glycogen Storage Disease, Type 1b
|
SLC37A4 (NM_ 001164277.1) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
1 in 354 |
1 in 7061 |
>95% |
What is Glycogen Storage Disease, Type 1b?
Glycogen Storage Disease, Type 1b (GSD1b) is an autosomal recessive disorder that causes a stored form of sugar called glycogen to build up in the cells of the body. Glycogen builds up in the liver, kidneys, and small intestines, causing these organs not to function correctly. Symptoms begin in the first few months of life and include low blood sugar, enlarged liver, short stature, delayed puberty, and high amounts of uric acid and cholesterol in the blood. Some children with GSD1b have repeated bacterial infections caused by low levels of a type of white blood cell called neutrophils (neutropenia). Some affected people may also develop chronic inflammation of the pancreas, gum disease, chronic inflammatory bowel disease, and or Crohn's disease. Medical and dietary treatment helps lessen the effects of GSD1b.
What causes Glycogen Storage Disease, Type 1b?
Glycogen Storage Disease, Type 1b is caused by a gene change, or mutation, in both copies of the SLC37A4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Glycogen Storage Disease, Type 1b
|
SLC37A4 (NM_001164277.1) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
1 in 354 |
1 in 35301 |
99% |
|
Glycogen Storage Disease, Type 2 (Pompe Disease)
|
GAA (NM_000152.4) |
African American |
1 in 70 |
1 in 6901 |
99% |
|
Ashkenazi Jewish |
1 in 58 |
1 in 5701 |
99% |
Asian |
1 in 112 |
1 in 11101 |
99% |
Caucasian |
1 in 100 |
1 in 9901 |
99% |
General population |
1 in 132 |
1 in 13101 |
99% |
|
Glycogen Storage Disease, Type 2 (Pompe Disease)
|
GAA (NM_ 000152.3) |
African American |
1 in 70 |
1 in 1381 |
>95% |
|
Ashkenazi Jewish |
1 in 58 |
1 in 1141 |
>95% |
Asian |
1 in 112 |
1 in 2221 |
>95% |
Caucasian |
1 in 100 |
1 in 901 |
89% |
General population |
1 in 132 |
1 in 2621 |
>95% |
What is Glycogen Storage Disease, Type 2 (Pompe Disease)?
Glycogen Storage Disease, Type 2, also known as Pompe Disease or GSD2, is an autosomal recessive disorder that causes progressive weakness in the muscles used for movement and breathing. People with Glycogen Storage Disease, Type 2 are missing an enzyme that breaks down glycogen, a stored form of sugar used for energy by the muscles. As a result, glycogen builds up in the body, mostly in the muscles, and damages these cells. There are two main forms of Glycogen Storage Disease, Type 2, infantile-onset and late-onset.
The infantile form is the most common and most severe type of Glycogen Storage Disease, Type 2. Infants may appear normal at birth but begin to show symptoms in the first few months of life. Symptoms include decreased muscle tone (hypotonia), muscle weakness, difficulty feeding, delayed growth, breathing problems, enlarged liver and heart, and sometimes an enlarged tongue. The infantile form of Glycogen Storage Disease, Type 2 progresses quickly and most untreated infants will die within the first year of life. Enzyme replacement therapy may slow down the progression of heart disease and muscle weakness.
Symptoms of late-onset Glycogen Storage Disease, Type 2 can begin at any time from childhood to adulthood. Symptoms include progressive muscle weakness and problems with breathing, often leading to the need for wheelchair and breathing machine assistance. This form of the disease progresses more slowly, especially with enzyme-replacement therapy.
What causes Glycogen Storage Disease, Type 2 (Pompe Disease)?
Glycogen Storage Disease, Type 2 is caused by a gene change, or mutation, in both copies of the GAA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the gene do not work correctly, it leads to the symptoms described above. |
Glycogen Storage Disease, Type 3
|
AGL (NM_ 000028.2) |
Faroese |
1 in 28 |
1 in 541 |
>95% |
|
Sephardic Jewish - Moroccan |
1 in 34 |
1 in 661 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Glycogen Storage Disease, Type 3?
Glycogen Storage Disease, Type 3, also called GSD3, is an autosomal recessive disorder in which the body is unable to break down the stored form of sugar called glycogen. This causes glycogen to build up in body cells and results in damage to certain organs and tissues, especially the liver and muscles.
Infants with Glycogen Storage Disease, Type 3 may have low blood sugar (hypoglycemia), high cholesterol, and high liver enzymes. Children with Glycogen Storage Disease, Type 3 commonly develop an enlarged liver, leading to a noticeably swollen abdomen. Liver size usually returns to normal later in childhood, but long term liver damage may occur. A slower than average growth rate, muscle weakness, and an enlarged heart are also common in children with Glycogen Storage Disease, Type 3. In rare cases symptoms may be milder and may not occur until adulthood. Medical and dietary treatments often lessen the effects of Glycogen Storage Disease, Type 3.
What causes Glycogen Storage Disease, Type 3?
Glycogen Storage Disease, Type 3 is caused by a gene change, or mutation, in both copies of the AGL gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Glycogen Storage Disease, Type 3
|
AGL (NM_000642.2) |
Faroese |
1 in 28 |
1 in 2701 |
99% |
|
General population |
1 in 159 |
1 in 15801 |
99% |
Sephardic Jewish - Moroccan |
1 in 37 |
1 in 3601 |
99% |
|
Glycogen Storage Disease, Type 4
|
GBE1 (NM_000158.3) |
Ashkenazi Jewish |
1 in 68 |
1 in 6701 |
99% |
|
Caucasian |
1 in 144 |
1 in 14301 |
99% |
General population |
1 in 387 |
1 in 38601 |
99% |
|
Glycogen Storage Disease, Type 4
|
GBE1 (NM_ 000158.3) |
Ashkenazi Jewish |
1 in 68 |
1 in 1341 |
>95% |
|
Caucasian |
1 in 144 |
1 in 478 |
70% |
General population |
1 in 387 |
1 in 7721 |
95% |
What is Glycogen Storage Disease, Type 4?
Glycogen Storage Disease, Type 4, also called Andersen disease or GSD4, is an autosomal recessive disorder caused by the lack of a particular enzyme called glycogen branching enzyme. The absence of this enzyme causes glycogen – a form of stored sugar that is broken down by the body and used for energy in the cells – to build up in the body. This buildup leads to scarring (cirrhosis) and damage of the tissues and organs where glycogen is stored, especially the liver and muscles.
There are many forms of Glycogen Storage Disease, Type 4 and the symptoms range from mild to severe. Glycogen Storage Disease, Type 4 often causes symptoms in infancy with poor feeding and growth (failure to thrive), an enlarged liver and spleen, enlarged heart, low muscle tone (hypotonia), and muscle wasting. Liver cirrhosis appears very early, worsens with age, and can lead to death before age five. Childhood symptoms of Glycogen Storage Disease, Type 4 may include muscle weakness and heart disease that worsen as the child gets older. Lifespan is typically shortened in the more severe forms of Glycogen Storage Disease, Type 4.
Rarely, specific mutations in the same gene cause a different disorder called Adult Polyglucosan Body Disease. Symptoms of this condition typically start in mid-adulthood and include peripheral neuropathy (loss of sensation in the arms and legs due to progressive breakdown of the nerves), impairment of the nerves of the bladder, muscle weakness and stiffness. Some people with this condition also develop dementia. It is sometime, but not always, possible to tell whether a specific gene mutation will cause Glycogen Storage Disease, Type 4 or Adult Polyglucosan Body Disease.
What causes Glycogen Storage Disease, Type 4?
Glycogen Storage Disease, Type 4 is caused by a change, or mutation, in both copies of the GBE1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the GBE1 gene do not work correctly, it leads to the symptoms described above. |
Glycogen Storage Disease, Type 5 (McArdle Disease)
|
PYGM (NM_ 005609.2) |
General population |
1 in 172 |
1 in 3440 |
>95% |
|
Caucasian |
1 in 191 |
1 in 3168 |
94% |
Sephardic Jewish - Kurdish |
1 in 84 |
1 in 1661 |
>95% |
What is Glycogen Storage Disease, Type 5 (McArdle Disease)?
Glycogen Storage Disease, Type 5, also called McArdle disease or GSD5, is an autosomal recessive disorder in which the body cannot change glycogen to glucose, the sugar used by the body for energy. This leads lack of enough energy for muscle cells to work properly. The symptoms of Glycogen Storage Disease, Type 5 can vary from mild to severe and commonly occur in young adults between the ages of 20 and 30. Symptoms include muscle cramping, pain, weakness, soreness, and fatigue when exercising. Individuals with this disorder may also experience blood in the urine and temporary kidney failure.
What causes Glycogen Storage Disease Type 5 (McArdle Disease)?
Glycogen Storage Disease, Type 5 is caused by a change, or mutation, in both copies of the PYGM gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Glycogen Storage Disease, Type 5 (McArdle Disease)
|
PYGM (NM_005609.3) |
Caucasian |
1 in 191 |
1 in 19001 |
99% |
|
General population |
1 in 191 |
1 in 19001 |
99% |
Sephardic Jewish - Kurdish |
1 in 84 |
1 in 8301 |
99% |
|
Glycogen Storage Disease, Type 7
|
PFKM (NM_000289.5) |
Ashkenazi Jewish |
1 in 250 |
1 in 24901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Glycogen Storage Disease, Type 7
|
PFKM (NM_ 000289.5) |
Ashkenazi Jewish |
1 in 250 |
1 in 4981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Glycogen Storage Disease, Type 7?
Glycogen Storage Disease Type 7, also referred to as Tarui Disease or GSD7, is an autosomal recessive disorder caused by the lack of an enzyme which is needed to breakdown glycogen, a stored form of sugar used for energy in muscle cells during exercise. GSD7 usually begins in childhood with symptoms of muscle weakness, pain and stiffness during exercise, nausea and vomiting, and dark red-colored urine. Breakdown of muscle tissue can also occur. A rare form of GSD7 occurs in infants that causes progressive loss of muscle tone (hypotonia), muscle weakness, and death. A late-onset form occurs in adults who experience only muscle weakness.
What causes Glycogen Storage Disease, Type 7?
GSD7 is caused by a gene change, or mutation, in both copies of the PFKM gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Glycogen Storage Disease, Type II
|
GAA (NM_000152.3) |
African American |
1 in 70 |
1 in 1381 |
>95% |
|
Ashkenazi Jewish |
1 in 58 |
1 in 1141 |
>95% |
Asian |
1 in 112 |
1 in 2221 |
>95% |
Caucasian |
1 in 100 |
1 in 901 |
89% |
General population |
1 in 132 |
1 in 2621 |
>95% |
|
Glycogen Storage Disease, Type III
|
AGL (NM_000028.2) |
Faroese |
1 in 28 |
1 in 541 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
>95% |
Sephardic Jewish - Moroccan |
1 in 34 |
1 in 661 |
>95% |
|
Glycogen Storage Disease, Type IV
|
GBE1 (NM_000158.3) |
Ashkenazi Jewish |
1 in 68 |
1 in 1341 |
>95% |
|
Caucasian |
1 in 144 |
1 in 478 |
70% |
General population |
1 in 387 |
1 in 7721 |
95% |
|
Glycogen Storage Disease, Type Ib
|
SLC37A4 (NM_001164277.1) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
1 in 354 |
1 in 7061 |
>95% |
|
Glycogen Storage Disease, Type V
|
PYGM (NM_005609.2) |
Caucasian |
1 in 191 |
1 in 3168 |
94% |
|
General population |
1 in 191 |
1 in 3168 |
94% |
Sephardic Jewish - Kurdish |
1 in 84 |
1 in 1661 |
>95% |
|
Glycogen Storage Disease, Type VII
|
PFKM (NM_000289.5) |
Ashkenazi Jewish |
1 in 250 |
1 in 4981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Guanidinoacetate Methyltransferase Deficiency
|
GAMT (NM_000156.5) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Portuguese |
1 in 125 |
1 in 12401 |
99% |
|
Guanidinoacetate Methyltransferase Deficiency
|
GAMT (NM_000156.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Portuguese |
1 in 125 |
1 in 2481 |
>95% |
|
Guanidinoacetate Methyltransferase Deficiency
|
GAMT (NM_ 000156.5) |
Portuguese |
1 in 125 |
1 in 2481 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Guanidinoacetate Methyltransferase Deficiency?
Guanidinoacetate Methyltransferase Deficiency is an autosomal recessive disorder that affects the brain and muscles. Symptoms of this disorder are usually first observed in infancy or childhood and include epileptic seizures, intellectual disability, difficulty with speech, and autistic-like behaviors. Other symptoms may also occur including muscle weakness, delayed motor skills, and involuntary movements such as tremors. Children with this condition who receive early treatment may have less severe symptoms and, in some cases, may show normal development.
What causes Guanidinoacetate Methyltransferase Deficiency?
Guanidinoacetate Methyltransferase Deficiency is caused by a change, or mutation, in both copies of the GAMT gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
ABCA12 (NM_173076.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Harlequin Ichthyosis? Harlequin Ichthyosis is an inherited disorder that affects the skin. Babies with this disorder are born with a thick, hard layer of skin that covers most of the body. This layer of skin is separated into diamond-shaped plates with deep cracks between the plates. The skin layer restricts movement, which can cause breathing problems, and the deep cracks increase the risk of infections and lead to problems in regulating body temperature and water balance. There is no cure for Harlequin Ichthyosis and babies are at risk of dying in infancy, although early and consistent medical care may allow survival into childhood or adolescence. Rarely, mutations in the same gene cause a different type of ichthyosis called Nonbullous Congenital Ichthyosiform Erythroderma (NBCIE). NBCIE is usually less severe than Harlequin Ichthyosis. Babies are born with a clear fitted cover over their body (called a collodion membrane) that usually peels off a few weeks after birth. After that, symptoms include redness with white scales on the skin, dehydration, and increased number of infections. Life span is normal and skin problems may get somewhat better by adulthood. The information below is about Harlequin Ichthyosis, the more common disorder. However, NBCIE is inherited in the same manner as Harlequin Ichthyosis and has the same reproductive options. What causes Harlequin Ichthyosis? Harlequin Ichthyosis is caused by a gene change, or mutation, in both copies of the ABCA12 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the ABCA12 genes is to help in the development of the skin. When both copies of this gene do not work correctly it leads to the symptoms described above. It is sometimes, but not always possible to determine whether a specific mutation in the ABCA12 gene will cause Harlequin Ichthyosis or NBCIE. |
Heme Oxygenase 1 Deficiency
|
HMOX1 (NM_002133.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
HFE2 (HJV) (NM_ 213653.3) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Hemochromatosis Type 2A?
Hemochromatosis Type 2A, also called Juvenile Hemochromatosis, is an autosomal recessive iron overload disorder in which the body absorbs too much iron from food. This extra iron is stored in the organs and causes damage, especially in the liver, skin, pancreas, heart, joints, and testes. If the condition is not treated, signs and symptoms of Hemochromatosis Type 2A begin in early childhood. Too much iron in the body causes joint pain (arthritis), liver disease, diabetes, skin discoloration, excessive tiredness, and heart disease that usually becomes severe by age 30. Decreased function of the ovaries and testes, known as hypogonadism, is also common. This leads to a loss of menstrual cycles for women and a delay in puberty or lowered sex drive for men. If the condition is not treated, lifespan is shortened. Treatment with periodic blood withdrawal, which removes the excess iron, is helpful in preventing or slowing the onset and severity of symptoms but cannot reverse damage that has already occurred.
What causes Hemochromatosis Type 2A?
Hemochromatosis Type 2A is caused by a gene change, or mutation, in both copies of the HFE2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair are not working correctly it leads to the symptoms described above. |
Hemochromatosis, Type 2A
|
HJV aka HFE2 (NM_ 213653.3) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Hemochromatosis, Type 3, TFR2-Related
|
TFR2 (NM_003227.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Hemochromatosis, Type 3, TFR2-Related
|
TFR2 (NM_ 003227.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Hemochromatosis, Type 3, TFR2-Related?
Hemochromatosis, Type 3, TFR2-Related is an autosomal recessive iron overload disorder in which the body absorbs too much iron from food. This extra iron is stored in the organs and causes damage, especially in the liver, skin, pancreas, heart, joints, and testes. If the condition is not treated, signs and symptoms of Hemochromatosis, Type 3, TFR2-Related usually begin before age 30. Too much iron in the body causes liver disease, diabetes, skin discoloration, excessive tiredness, joint pain (arthritis), and heart disease. Decreased function of the ovaries and testes, known as hypogonadism, is also common. This leads to a decrease in menstrual cycles for women and lowered sex drive for men. Treatment with periodic blood withdrawal, which removes the excess iron, is very effective at preventing new symptoms but cannot reverse damage that has already occurred.
What causes Hemochromatosis, Type 3, TFR2-Related?
Hemochromatosis, Type 3, TFR2-Related is caused by a gene change, or mutation, in both copies of the TFR2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
|
F8 (NM_000132.3) |
General population |
1 in 2500 |
1 in 49981 |
95% |
|
What is hemophilia A? Hemophilia A, also known as factor VIII deficiency, is an inherited bleeding condition that affects males more often than females. Factor VIII is a protein that helps to clot blood after injury. If the body does not make enough normal factor VIII, it causes longer than average bleeding times, especially following surgery, injury, or tooth extractions. The symptoms of hemophilia A can be mild, moderate, or severe and vary from person to person. People with severe hemophilia A have symptoms that start in early childhood and have episodes of uncontrolled bleeding in the joints, muscles, brain, or other organs, even without injury. Nosebleeds, easy bruising, and blood in the urine are also common. People with moderate hemophilia A usually show symptoms by the age of 5 or 6 and often have prolonged bleeding after minor injuries, surgeries, or tooth extraction. Mild hemophilia A causes bleeding problems after major trauma, surgery, or tooth extraction but usually not with minor injury and may not be recognized until later in life. Children with hemophilia A are likely to need lifelong medical care. Treatment for hemophilia A often includes infusions of factor VIII to help restore normal blood clotting. What causes hemophilia A? Hemophilia A is caused by a change, or mutation, in the F8 gene. This mutation causes the gene to not work properly or not work at all. Normal function of the F8 gene is important for making factor VIII, a protein that helps in blood clotting. When the F8 gene does not work correctly, it leads to the symptoms described above. |
Hemophilia B, X-Linked
|
F9 (NM_000133.3) |
General population |
1 in 23000 |
1 in 120000 |
95% |
|
|
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related
|
MPV17 (NM_002437.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Navajo |
1 in 20 |
1 in 381 |
>95% |
|
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related
|
MPV17 (NM_ 002437.4) |
Navajo Native American |
1 in 20 |
1 in 381 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related?
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related (also called Mitochondrial DNA Depletion Syndrome 6) is an autosomal recessive disorder that causes liver disease and neurological problems. Symptoms usually start shortly after birth and include vomiting, lack of energy, low blood sugar (hypoglycemia), diarrhea, and poor growth. Enlargement of the liver and liver disease also occur and worsen quickly, often leading to liver failure. Neurologic problems include muscle weakness, developmental delay, and a loss of sensation in the arms and legs. There is no treatment for this condition and infants with Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related usually do not live past early childhood.
What causes Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related?
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related is caused by a change, or mutation, in both copies of the MPV17 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related
|
MPV17 (NM_002437.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Navajo |
1 in 20 |
1 in 1901 |
99% |
|
Hereditary Fructose Intolerance
|
ALDOB (NM_000035.3) |
African American |
1 in 406 |
1 in 40501 |
99% |
|
Caucasian |
1 in 80 |
1 in 7901 |
99% |
General population |
1 in 55 |
1 in 5401 |
99% |
Hispanic |
1 in 55 |
1 in 5481 |
99% |
|
Hereditary Fructose Intolerance
|
ALDOB (NM_ 000035.3) |
African American |
1 in 406 |
1 in 8101 |
>95% |
|
Caucasian |
1 in 80 |
1 in 1581 |
>95% |
Hispanic |
1 in 275 |
1 in 5481 |
>95% |
General population |
1 in 121 |
1 in 2401 |
>95% |
What is Hereditary Fructose Intolerance?
Hereditary Fructose Intolerance is an autosomal recessive disorder in which the body is unable to use fructose, a sugar found in many fruits as well as table sugar (sucrose). People who have Hereditary Fructose Intolerance become sick when they eat foods containing fructose or sucrose. Symptoms can be mild or severe. If untreated, the condition can lead to some or all of the following after eating foods with fructose or sucrose: hypoglycemia (low blood sugar), sweating, confusion, seizures, kidney damage, liver failure, and coma. Hereditary Fructose Intolerance can be life-threatening in infants and ranges from mild to severe in older children and adults. Early diagnosis and diet changes begun in infancy can reduce and often prevent these more serious problems.
What causes Hereditary Fructose Intolerance?
Hereditary Fructose Intolerance is caused by a gene change, or mutation, in both copies of the ALDOB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, fructose builds up in the body and, if untreated, results in the symptoms described above. |
Hereditary Fructose Intolerance
|
ALDOB (NM_000035.3) |
African American |
1 in 406 |
1 in 8101 |
>95% |
|
Caucasian |
1 in 80 |
1 in 1581 |
>95% |
General population |
1 in 121 |
1 in 2401 |
>95% |
Hispanic |
1 in 275 |
1 in 5481 |
>95% |
|
Hereditary Hemochromatosis Type 1
|
HFE (NM_000410.3) |
General population |
1 in 4 |
1 in 300 |
99% |
|
|
Hereditary Hemochromatosis Type 2B
|
HAMP (NM_021175.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Hereditary Hemochromatosis, HFE2-Related
|
HFE2 (NM_213653.3) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Hereditary Hemochromatosis, TFR2-Related
|
TFR2 (NM_003227.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Hereditary Spastic Paraparesis, Type 49
|
TECPR2 (NM_014844.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Bukharian |
1 in 27 |
1 in 521 |
>95% |
|
Hereditary Spastic Paraparesis, Type 49
|
TECPR2 (NM_014844.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Bukharian |
1 in 27 |
1 in 2601 |
99% |
|
Hereditary Spastic Paraparesis, Type 49
|
TECPR2 (NM_014844.4) |
Sephardic Jewish - Bukharian |
1 in 27 |
1 in 521 |
>95% |
|
General population |
< 1 in 500 |
1 in 9900 |
>95% |
What is Hereditary Spastic Paraparesis, Type 49?
Hereditary Spastic Paraparesis, Type 49 (also known as Spastic Paraplegia 49, Autosomal Recessive) is one of a group of hereditary disorders that affect the muscles of the hips and legs. Symptoms of Hereditary Spastic Paraparesis, Type 49 usually start in infancy. Symptoms vary from person to person but typically include delayed walking, balance problems, muscle stiffness (spasticity) and weakness in the legs, developmental delay with intellectual disability, distinct facial features, and short stature. The muscle weakness and spasticity worsens over time. Currently there is no cure or specific treatment for this condition.
What causes Hereditary Spastic Paraparesis, Type 49?
Hereditary Spastic Paraparesis, Type 49 is caused by a gene change, or mutation, in both copies of the TECPR2 gene pair. These mutations cause the genes to not work properly or not work at all. If both copies of this gene do not work correctly, it leads to the symptoms described above. |
Hereditary Spastic Paraplegia, Cyp7B1-Related
|
CYP7B1 (NM_004820.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Hermansky-Pudlak Syndrome, AP3B1-Related
|
AP3B1 (NM_003664.4) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
What is Hermansky-Pudlak Syndrome, AP3B1-Related? Hermansky-Pudlak Syndrome, AP3B1-Related (also called Hermansky-Pudlak Syndrome 2) is an inherited disorder that causes albinism (decreased color, or pigment, in the skin, hair, and eyes), bleeding problems, and may cause pulmonary fibrosis (scarring in the lungs) and/or immune system problems. The albinism causes abnormal eye movements (nystagmus), vision problems, and an increased risk for skin cancer. People with this condition also have problems with blood clotting, leading to bruising and easy bleeding. Problems with the immune system can lead to increased numbers of infections. Pulmonary fibrosis occurs in some people and typically begins in around the age of 30; the lung scarring leads to breathing problems that often result in death within about ten years after symptoms begin. Currently there is no cure for this disorder and treatment is based on symptom. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Hermansky-Pudlak Syndrome, AP3B1-Related? Hermansky-Pudlak Syndrome, AP3B1-Related is caused by gene changes, or mutations, in both copies of the AP3B1 gene pair. The function of the AP3B1 genes is to help make pigment in the skin, hair and eyes, as well as to help with blood clotting. When both copies of the AP3B1 gene are not working, it causes the symptoms described above. |
Hermansky-Pudlak Syndrome, Bloc1S3-Related
|
BLOC1S3 (NM_212550.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Hermansky-Pudlak Syndrome, Bloc1S6-Related
|
BLOC1S6 (NM_012388.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Hermansky-Pudlak Syndrome, HPS1-Related
|
HPS1 (NM_000195.4) |
Puerto Rican |
1 in 59 |
1 in 1161 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Hermansky-Pudlak Syndrome, HPS1-Related?
Hermansky-Pudlak Syndrome, HPS1-Related is an autosomal recessive disorder that causes albinism (decreased color, or pigment, in the skin, hair, and eyes), bleeding problems, and may cause pulmonary fibrosis (scarring in the lungs). The lack of pigment (albinism) causes abnormal eye movements (nystagmus), vision problems, and an increased risk for skin cancer. People with this condition also have problems with blood clotting, leading to bruising and easy bleeding. Pulmonary fibrosis occurs in some people and typically begins in around the age of 30; the lung scarring leads to breathing problems that often result in death within about ten years after symptoms begin. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Hermansky-Pudlak Syndrome, HPS1-Related?
Hermansky-Pudlak Syndrome, HPS1-Related is caused by a gene change, or mutation, in both copies of the HPS1 gene pair. The function of the HPS1 gene pair is to help make pigment in the skin, hair and eyes, as well as to help with blood clotting. When both copies of the HPS1 gene are not working correctly, it causes the symptoms described above. |
Hermansky-Pudlak Syndrome, HPS1-Related
|
HPS1 (NM_000195.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Puerto Rican |
1 in 59 |
1 in 5801 |
99% |
|
Hermansky-Pudlak Syndrome, HPS1-Related
|
HPS1 (NM_000195.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Puerto Rican |
1 in 59 |
1 in 1161 |
>95% |
|
Hermansky-Pudlak Syndrome, HPS3-Related
|
HPS3 (NM_032383.4) |
Ashkenazi Jewish |
1 in 235 |
1 in 4681 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Hermansky-Pudlak Syndrome, HPS3-Related
|
HPS3 (NM_032383.4) |
Ashkenazi Jewish |
1 in 235 |
1 in 23401 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Hermansky-Pudlak Syndrome, HPS3-Related
|
HPS3 (NM_032383.4) |
Ashkenazi Jewish |
1 in 235 |
1 in 4681 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Hermansky-Pudlak Syndrome, HPS3-Related?
Hermansky-Pudlak Syndrome, HPS3-Related is an autosomal recessive disorder that causes albinism, eye problems, and bleeding problems. Albinism leads to decreased pigment, or color, in the skin, hair, and eye. Due to the reduced pigment, people with this disorder are at increased risk for skin cancer, abnormal eye movements (nystagmus), and vision loss. Blood clotting problems may also occur. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Hermansky-Pudlak Syndrome, HPS3-Related?
Hermansky-Pudlak Syndrome, HPS3-Related is caused by a gene change, or mutation, in both copies of the HPS3 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the HPS3 gene pair is to help make pigment in the skin, hair and eyes, as well as to help with blood clotting. When both copies of the HPS3 gene are not working correctly, it causes the symptoms described above. |
Hermansky-Pudlak Syndrome, HPS4-Related
|
HPS4 (NM_022081.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Hermansky-Pudlak Syndrome, HPS4-Related? Hermansky-Pudlak Syndrome, HPS4-Related (also called Hermansky-Pudlak Syndrome 4) is an inherited disorder that causes albinism (decreased color, or pigment, in the skin, hair, and eyes), bleeding problems, and may cause pulmonary fibrosis (scarring in the lungs). The albinism causes abnormal eye movements (nystagmus), vision problems, and an increased risk for skin cancer. People with this condition also have problems with blood clotting, leading to bruising and easy bleeding. Pulmonary fibrosis occurs in some people and typically begins in around the age of 30; the lung scarring leads to breathing problems that often result in death within about ten years after symptoms begin. Currently there is no cure for this disorder and treatment is based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Hermansky-Pudlak Syndrome, HPS4-Related? Hermansky-Pudlak Syndrome, HPS4-Related is caused by gene changes, or mutations, in both copies of the HPS4 gene pair. The function of the HPS4 genes is to help make pigment in the skin, hair and eyes, as well as to help with blood clotting. When both copies of the HPS4 gene are not working, it causes the symptoms described above. |
Hermansky-Pudlak Syndrome, Hps5-Related
|
HPS5 (NM_181507.1) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Hermansky-Pudlak Syndrome, Hps6-Related
|
HPS6 (NM_024747.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Heterotaxy Syndrome, ZIC3-Related
|
ZIC3 (NM_003413.3) |
General population |
1 in 750000 |
1 in 74999901 |
99% |
|
What is Heterotaxy Syndrome, ZIC3-Related? Heterotaxy Syndrome, ZIC3-Related is an inherited disorder that affects mainly males and varies in severity from person to person. Boys with this condition are born with internal organs that are not in their correct places in the chest and abdomen. Birth defects of the heart, lungs, liver, spleen, intestines and/or other organs may also be present. Sometimes, the spleen is missing or there are multiple, poorly working spleens. The liver may be in the middle rather than the right side of the body, and the intestines may be twisted, leading to problems digesting food. In some affected males, lung defects cause serious breathing problems and heart defects may cause a shortened life span. Some affected individuals have only heart defects, which may be severe, with no other symptoms. Currently there is no cure for Heterotaxy Syndrome, ZIC3-Related and treatment is based on symptoms. Rare individuals have a related condition called VACTERL Association with Hydrocephalus, X-Linked. Signs and symptoms of VACTERL Association with Hydrocephalus, X-Linked are present at birth and may include some or all of the following: misshapen vertebrae, abnormal opening of the anus, heart defects, abnormalities of the trachea and esophagus (TE fistula), kidney abnormalities, and birth defects of the limbs (extra fingers, underdeveloped upper or lower arm, abnormal thumbs) along with water on the brain (hydrocephalus). Babies with this disorder often die in infancy. The information below is about Heterotaxy Syndrome, ZIC3-Related, the more common disorder. However, the inheritance pattern and reproductive options also apply to VACTERL Association with Hydrocephalus, X-Linked. What causes Heterotaxy Syndrome, ZIC3-Related? Heterotaxy Syndrome, ZIC3-Related is caused by a change, or mutation, in the ZIC3 gene, which causes the gene to not work properly or not work at all. When this gene does not work correctly, it leads to the symptoms described above. It is sometimes, but not always possible, to determine whether a given mutation in the ZIC3 gene will cause Heterotaxy Syndrome, ZIC3-Related or VACTERL Association with Hydrocephalus, X-Linked. |
Holocarboxylase Synthetase Deficiency
|
HLCS (NM_000411.7) |
Asian |
1 in 158 |
1 in 15701 |
99% |
|
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
Faroese |
1 in 20 |
1 in 1901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Holocarboxylase Synthetase Deficiency
|
HLCS (NM_000411.6) |
Asian |
1 in 158 |
1 in 2618 |
94% |
|
Caucasian |
<1 in 500 |
1 in 9981 |
>95% |
Faroese |
1 in 20 |
1 in 381 |
>95% |
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
Holocarboxylase Synthetase Deficiency
|
HLCS (NM_ 000411.6) |
Asian |
1 in 158 |
1 in 2618 |
94% |
|
Caucasian |
1 in 500 |
1 in 9981 |
>95% |
Faroese |
1 in 20 |
1 in 381 |
>95% |
General population |
1 in 500 |
1 in 9981 |
>95% |
What is Holocarboxylase Synthetase Deficiency?
Holocarboxylase Synthetase Deficiency, also called Multiple Carboxylase Deficiency, is an autosomal recessive disorder in which the body cannot properly use a B vitamin called biotin. The disorder is easily and effectively treated with large doses of oral biotin prescribed by a doctor. If treatment is not started early, signs and symptoms typically appear in the first few months of life but may also begin later in childhood. If untreated, Holocarboxylase Synthetase Deficiency can cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, movement and balance problems, skin rashes, hair loss, and yeast infections. Lifelong treatment with biotin supplementation can prevent the symptoms from occurring. With early diagnosis and treatment with biotin, people with Holocarboxylase Synthetase Deficiency can live healthy lives.
What causes Holocarboxylase Synthetase Deficiency?
Holocarboxylase Synthetase Deficiency is caused by a gene change, or mutation, in both copies of the HLCS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Homocystinuria And Megaloblastic Anemia Type Cblg
|
MTR (NM_000254.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Homocystinuria due to Deficiency of MTHFR
|
MTHFR (NM_ 005957.4) |
Sephardic Jewish - Bukharian |
1 in 39 |
1 in 761 |
>95% |
|
General population |
< 1 in 500 |
1 in 9900 |
>95% |
What is Homocystinuria due to Deficiency of MTHFR?
Homocystinuria due to Deficiency of MTHFR is an autosomal recessive disorder that causes an abnormal buildup of the amino acid homocysteine and a decreased amount of the amino acid methionine in the blood. Signs and symptoms of Homocystinuria due to Deficiency of MTHFR often begin in infancy but can start as late as adolescence. Symptoms can include breathing problems, developmental delays, intellectual disabilities, movement problems, seizures, abnormal blood clotting and strokes, a small head size, and psychiatric disorders. Medical treatment to attempt to reduce symptoms includes amino acid supplements (including high dose betaine), vitamin B12, folic acid, and other supplements.
What causes Homocystinuria due to Deficiency of MTHFR?
Homocystinuria due to Deficiency of MTHFR is caused by a gene change, or mutation, in both copies of the MTHFR gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the MTHFR gene pair do not work correctly, homocysteine builds up in the blood and the amount of folate decreases, which leads to the symptoms described above. |
Homocystinuria due to Deficiency of MTHFR
|
MTHFR (NM_005957.4) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
Sephardic Jewish - Bukharian |
1 in 39 |
1 in 3801 |
99% |
|
Homocystinuria due to Deficiency of MTHFR
|
MTHFR (NM_ 005957.4) |
Sephardic Jewish - Bukharian |
1 in 39 |
1 in 761 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Homocystinuria, CBS-Related
|
CBS (NM_000071.2) |
Caucasian |
1 in 52 |
1 in 5101 |
99% |
|
General population |
1 in 224 |
1 in 22301 |
99% |
Qatari |
1 in 21 |
1 in 2001 |
99% |
|
Homocystinuria, CBS-Related
|
CBS (NM_ 000071.2) |
Caucasian |
1 in 52 |
1 in 1021 |
>95% |
|
Qatari |
1 in 21 |
1 in 401 |
>95% |
General population |
1 in 293 |
1 in 5841 |
>95% |
What is Homocystinuria, CBS-Related?
Homocystinuria, CBS-Related is an autosomal recessive disorder that causes an abnormal buildup of the amino acid homocysteine and other toxic substances in the blood. The severity and number of symptoms varies from person to person. Some or all of the following symptoms can occur: developmental delays and intellectual disabilities, nearsightedness (myopia), dislocation of the lens in the front of the eye, abnormal blood clotting, and brittle bones (osteoporosis). People with this condition are often tall and slender. There are two forms of Homocystinuria, CBS-Related. One form is Vitamin B6-responsive, which is usually milder, and the other is B6-nonresponsive. Treatment includes a low protein diet and vitamin supplementation, including vitamin B6 for people who have the B6-responsive type.
What causes Homocystinuria, CBS-Related?
Homocystinuria, CBS-Related is caused by a change, or mutation, in both copies of the CBS gene pair. These mutations cause the genes to not work properly or not work at all. The function of the CBS genes is to process the amino acid homocysteine into cystathionine. When both copies of this gene pair do not work correctly, homocysteine and other substances build up in the blood which leads to the symptoms described above.
Carriers of Homocystinuria, CBS-Related do not have the disorder but they are more likely to be deficient in vitamin B12 and folic acid. |
Homocystinuria, CBS-Related
|
CBS (NM_000071.2) |
Caucasian |
1 in 52 |
1 in 1021 |
>95% |
|
General population |
1 in 293 |
1 in 5841 |
>95% |
Qatari |
1 in 21 |
1 in 401 |
>95% |
|
Homocystinuria, Type cblE
|
MTRR (NM_002454.2) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Homocystinuria, Type cblE
|
MTRR (NM_002454.2) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Homocystinuria, Type cblE
|
MTRR (NM_ 002454.2) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Homocystinuria, Type cblE?
Homocystinuria, Type cblE is an autosomal recessive disorder in which the body cannot use the vitamin B12 (cobalamin) correctly. This leads to an abnormal buildup of the amino acid homocysteine and other toxic substances in the blood. Symptoms of Homocystinuria, Type cblE vary from person to person but usually begin within the first two years of life and can include small head and brain (microcephaly), lack of energy, feeding problems, developmental delay, intellectual disability, seizures, vision problems, poor muscle tone (hypotonia), and large red blood cells (megaloblastic anemia). Some people with this condition have milder symptoms that start in the teen years or early adulthood and may include behavior and personality changes, hallucinations, mental illness, and decline in memory and skills. Treatment, which includes daily supplements and medication, helps to reduce the symptoms but cannot reverse any damage that has already occurred.
What causes Homocystinuria, Type cblE?
Homocystinuria, Type cblE is caused by a gene change, or mutation, in both copies of the MTRR gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, homocysteine builds up in the blood which leads to the symptoms described above.
Carriers of Homocystinuria, Type cblE do not have the disorder but they are more likely to be deficient in vitamin B12 and folic acid. |
Hsd10 Disease
|
HSD17B10 (NM_004493.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
HYLS1 (NM_ 001134793.1) |
Finnish |
1 in 50 |
1 in 981 |
>95% |
|
General population |
1 in 455 |
1 in 9081 |
>95% |
What is Hydrolethalus Syndrome?
Hydrolethalus Syndrome is an autosomal recessive disorder in which infants are born with extra fingers and toes, brain malformations, hydrocephalus (water on the brain), and heart defects. During pregnancy there is often too much amniotic fluid, and preterm delivery is common. Infants with Hydrolethalus Syndrome are usually stillborn or die during infancy. There is no cure or treatment for this disorder.
What causes Hydrolethalus Syndrome?
Hydrolethalus Syndrome is caused by a gene change, or mutation, in both copies of the HYLS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Hydrolethalus Syndrome
|
HYLS1 (NM_001134793.1) |
Finnish |
1 in 50 |
1 in 981 |
>95% |
|
General population |
1 in 455 |
1 in 9081 |
>95% |
|
Hydrolethalus Syndrome
|
HYLS1 (NM_145014.2) |
Finnish |
1 in 50 |
1 in 4901 |
99% |
|
General population |
1 in 455 |
1 in 45401 |
99% |
|
Hyper IgM Syndrome, X-Linked
|
CD40LG (NM_000074.2) |
General population |
1 in 375000 |
1 in 37499901 |
99% |
|
What is Hyper IgM Syndrome, X-Linked? Hyper IgM Syndrome, X-Linked (also known as XHIM) is an inherited disorder of the immune system that affects mainly males. This condition affects the part of the immune system that makes antibodies. Antibodies, immune system proteins that attack specific infections, come in a number of different types. Signs and symptoms of Hyper IgM Syndrome, X-Linked vary from person to person, but most affected males have an excess number of IgM antibodies and low levels of other types of antibodies (IgG and IgA). Males with Hyper IgM Syndrome, X-Linked, often have repeated infections starting in infancy or early childhood. Initial health problems may include respiratory tract and other infections, chronic diarrhea, growth delays, and anemia. Teens and adults with this disorder may develop liver disease and are at increased risk for lymphoma and cancers of the digestive tract. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Hyper IgM Syndrome, X-Linked? Hyper IgM Syndrome, X-Linked is caused by a change, or mutation, in the CD40LG gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in males it leads to the symptoms described above. |
Hyper-Igm Immunodeficiency
|
CD40 (NM_001250.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome)
|
SLC25A15 (NM_014252.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Metis from Saskatchewan |
1 in 19 |
1 in 1801 |
99% |
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome)
|
SLC25A15 (NM_ 014252.3) |
Metis Nation - Saskatchewan |
1 in 19 |
1 in 361 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome)?
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome), also called Ornithine Translocase Deficiency, is an autosomal recessive disorder that causes ammonia to build up in the blood. Ammonia is formed when proteins are broken down in the body and is toxic if the levels become too high. The age of onset and severity of symptoms vary from person to person. Infants with the severe form of HHH Syndrome have episodes of low energy (lethargy), feeding problems, vomiting, seizures, and sometimes coma. They often have problems controlling their breathing and body temperature and may have unusual body movements. Other symptoms of HHH Syndrome can include developmental delay, learning disabilities, muscle tension and stiffness (spasticity), and liver problems. Later-onset (childhood or adult) forms of HHH Syndrome are usually less severe and may include episodes of high blood ammonia after high-protein meals, during illness, or after long periods without food (fasting). These episodes can include vomiting, lethargy, coordination and movement problems, confusion, headaches, and blurred vision. Treatment includes a medical low-protein diet along with special supplements and medications to lower the amount of ammonia in the blood.
What causes Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome)?
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome) is caused by a change, or mutation, in both copies of the SLC25A15 gene pair. These mutations cause the genes to not work properly or not work at all. The SLC25A15 genes make an enzyme that helps the body break down nitrogen from food. When both copies of the SLC25A15 gene do not work correctly, nitrogen builds up in the blood as ammonia, causing the symptoms described above. |
Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related
|
GALNT3 (NM_004482.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related? Hyperphosphatemic Familial Tumoral Calcinosis (HFTC), GALNT3-Related is an inherited disorder that causes high levels of phosphate in the blood along with deposits of phosphate and calcium (called calcinosis) in the skin, joints, and other parts of the body. Symptoms vary from person to person and can start in early childhood in some or not until adulthood in others. Calcinosis deposits can be small or large and they can increase in number over time; some people have many deposits and some have just a few. Calcinosis deposits can sometimes occur in the brain or blood vessels and cause serious health problems. They can also sometimes occur in the corneas and affect vision. Some affected individuals have painful areas of bone overgrowth (hyperostosis) and some have abnormalities of the teeth. Currently there is no cure for this disorder and treatment is based on symptoms. Treatment with a special medical diet low in phosphate and specific medications seems to reduce the symptoms in some people but not others. What causes HFTC, GALNT3-Related? HFTC, GALNT3-Related is caused by changes, or mutations, in both copies of the GALNT3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the GALNT3 gene are not working correctly, it leads to the symptoms described above. |
Hypohidrotic Ectodermal Dysplasia, X-Linked
|
EDA (NM_ 001399.4) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
What is Hypohidrotic Ectodermal Dysplasia, X-Linked?
Hypohidrotic Ectodermal Dysplasia, X-Linked is an X-linked inherited disorder that causes sparse body hair, reduced ability to sweat, and the absence of teeth. People with Hypohidrotic Ectodermal Dysplasia, X-Linked need to keep cool during hot weather, may need special hair care products or wigs, and need to visit the dentist early in childhood. Dentures or other dental restoration may be offered in childhood. Growth and development are otherwise normal. Girls tend to have fewer and milder symptoms of Hypohidrotic Ectodermal Dysplasia, X-Linked while boys show more features of the condition.
What causes Hypohidrotic Ectodermal Dysplasia, X-Linked?
Hypohidrotic Ectodermal Dysplasia, X-Linked is caused by a change, or mutation, in the EDA gene. This mutation causes the gene to not work properly or not work at all. People with Hypohidrotic Ectodermal Dysplasia, X-Linked either have an absence of or a non-working form of a protein called ectodysplasin-A in their cells. When this protein is missing or does not work correctly it leads to the symptoms described above. |
Hypohidrotic Ectodermal Dysplasia, X-Linked
|
EDA (NM_001399.4) |
General population |
1 in 3800 |
1 in 379901 |
99% |
|
|
Hypohidrotic Ectodermal Dysplasia, X-Linked
|
EDA (NM_001399.4) |
General population |
1 in 3800 |
1 in 76000 |
95% |
|
|
Hypomyelinating Leukodystrophy 12
|
VPS11 (NM_021729.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Hypophosphatasia
|
ALPL (NM_000478.4) |
Asian |
1 in 192 |
1 in 3821 |
>95% |
|
General population |
1 in 345 |
1 in 6881 |
>95% |
Mennonite |
1 in 25 |
1 in 481 |
>95% |
|
Hypophosphatasia, ALPL-Related
|
ALPL (NM_ 000478.4) |
Asian |
1 in 192 |
1 in 3821 |
>95% |
|
Mennonite |
1 in 25 |
1 in 481 |
>95% |
General population |
1 in 345 |
1 in 6881 |
>95% |
What is Hypophosphatasia, ALPL-Related?
Hypophosphatasia, ALPL-Related is a disorder inherited in either an autosomal recessive or autosomal dominant pattern that causes weakened bones and teeth. Symptoms vary from person to person and may start in infancy or not until later in childhood or adulthood. Infants with the severe form of this disorder have short bowed limbs, an abnormally shaped chest, and soft skull bones. Other symptoms may include feeding difficulties, growth delays, breathing problems, too much calcium in the blood, vomiting, and kidney disease, which can sometimes be life-threatening. In some cases symptoms do not start until later childhood or early adulthood, are often less severe, and can include early loss of baby teeth and then adult teeth, bowed legs, repeated bone fractures, softening of the bones (osteomalacia), short stature, and enlarged painful joints. Some people with a milder form of this condition typically only have abnormalities of the teeth, excess cavities, and early loss of teeth with no other symptoms.
What causes Hypophosphatasia, ALPL-Related?
Hypophosphatasia, ALPL-Related is caused by a gene change, or mutation, in one or both copies of the ALPL gene pair. The mutation or mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the mild or severe symptoms described above. People who have a mutation in one copy of the ALPL gene but not the other may have mild symptoms of Hypophosphatasia or may have no symptoms at all. |
Hypophosphatasia, ALPL-Related
|
ALPL (NM_000478.5) |
Asian |
1 in 203 |
1 in 20201 |
99% |
|
General population |
1 in 158 |
1 in 15701 |
99% |
Mennonite |
1 in 25 |
1 in 2401 |
99% |
|
Imerslund-Gräsbeck Syndrome 2
|
AMN (NM_030943.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
|
FOXP3 (NM_014009.3) |
General population |
1 in 750000 |
1 in 74999901 |
99% |
|
What is Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome? Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome is an inherited disorder of the immune system that affects mainly males. In this condition, the immune system starts attacking many parts of the body, causing autoimmune disorders and organ and tissue damage. IPEX Syndrome most often affects the skin, the intestines, and the glands that make hormones (endocrine glands), but can affect other parts of the body as well. Usually, infants with this disorder first develop Autoimmune Enteropathy, which occurs when the immune system destroys part of the intestines, causing severe diarrhea, weight loss, and growth delays. Inflammation of the skin (dermatitis) resulting red, itchy patches is also common. Males with IPEX Syndrome may develop several different endocrine gland disorders (Polyendocrinopathy), which may include Type 1 Diabetes Mellitus, which needs treatment with daily insulin injections, and/or autoimmune thyroid disease, causing under or overactive thyroid glands. Some affected males also develop blood disorders such as anemia, low levels of platelets (thrombocytopenia), or white blood cells (neutropenia). In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes IPEX Syndrome? IPEX Syndrome is caused by a change, or mutation, in the FOXP3 gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to the symptoms described above. |
Immunodeficiency-Centromeric Instability-Facial Anomalies (Icf) Syndrome, Dnmt3B-Related
|
DNMT3B (NM_006892.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Immunodeficiency-Centromeric Instability-Facial Anomalies (Icf) Syndrome, Zbtb24-Related
|
ZBTB24 (NM_014797.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Inclusion Body Myopathy 2
|
GNE (NM_001128227.2) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
99% |
|
Asian |
1 in 58 |
1 in 5701 |
99% |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
Sephardic Jewish - Iranian, Syrian |
1 in 12 |
1 in 1101 |
99% |
|
Inclusion Body Myopathy 2
|
GNE (NM_005476.5) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
Asian |
1 in 58 |
1 in 1141 |
>95% |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
1 in 179 |
1 in 3561 |
>95% |
Sephardic Jewish - Iranian, Syrian |
1 in 10 |
1 in 181 |
>95% |
|
Inclusion Body Myopathy 2
|
GNE (NM_ 005476.5) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
Asian |
1 in 58 |
1 in 1141 |
>95% |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
Sephardic Jewish - Iranian, Syrian |
1 in 10 |
1 in 181 |
>95% |
General population |
1 in 179 |
1 in 3561 |
>95% |
What is Inclusion Body Myopathy 2?
Inclusion Body Myopathy 2 is an autosomal recessive disorder that causes progressive muscle weakness in the legs and arms. Signs and symptoms of this disorder usually start in the late teenage years or early twenties but some people do not have problems until their thirties or forties. The first symptom is typically weakness in the muscles of the lower leg. As these muscles slowly weaken, walking becomes more difficult. The ability to walk is usually lost about 20 years after symptoms first appear. Muscle weakness worsens and starts to affect the muscles of the hips, hands, shoulders, neck, and occasionally the face. Intelligence is not affected. A small number of people with the gene mutations that cause this condition never show symptoms. Currently there is no cure for Inclusion Body Myopathy 2 and treatment is based on symptoms.
Very rarely, a mutation in the same gene will cause a separate disorder called Sialuria, which is inherited in a different manner. Symptoms of Sialuria are variable but include jaundice at birth, enlarged liver and spleen, and a type of anemia that causes very small red blood cells (microcytic anemia). Children with this condition have repeated respiratory infections and digestive problems. Some affected children also have seizures, learning disabilities, and episodes of dehydration. Some people with Sialuria have very mild symptoms that tend to improve as they get older.
What causes Inclusion Body Myopathy 2?
Inclusion Body Myopathy 2 is caused by a gene change, or mutation, in both copies of the GNE gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it results in the symptoms described above.
Sialuria, a very rare disorder, is inherited in an autosomal dominant manner. Individuals with a Sialuria-causing mutation in just one copy of the GNE gene will be affected with Sialuria. |
Infantile Cerebral and Cerebellar Atrophy
|
MED17 (NM_ 004268.4) |
Sephardic Jewish - Bukharian, Kurdish |
1 in 20 |
1 in 381 |
>95% |
|
General population |
< 1 in 500 |
1 in 9900 |
>95% |
What is Infantile Cerebral and Cerebellar Atrophy?
Infantile Cerebral and Cerebellar Atrophy is an autosomal recessive disorder that affects the brain. Signs and symptoms begin in infancy and include small head size, abnormal brain development, seizures, feeding problems, and failure to grow at the normal rate. Affected children do not achieve developmental milestones and have severe intellectual disability. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Infantile Cerebral and Cerebellar Atrophy?
Infantile Cerebral and Cerebellar Atrophy is caused by a gene change, or mutation, in both copies of the MED17 gene pair. These mutations cause the genes to not work properly or not work at all. The MED17 genes are important for brain development. When both copies of this gene do not work correctly, it leads abnormal development of the brain and to the symptoms described above. |
Infantile Cerebral and Cerebellar Atrophy
|
MED17 (NM_004268.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Bukharian, Kurdish |
1 in 20 |
1 in 1901 |
99% |
|
Infantile Cerebral and Cerebellar Atrophy
|
MED17 (NM_004268.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Bukharian, Kurdish |
1 in 20 |
1 in 381 |
>95% |
|
Infantile Nephronophthisis
|
INVS (NM_014425.4) |
General population |
1 in 373 |
1 in 37201 |
99% |
|
What is Infantile Nephronophthisis? Infantile Nephronophthisis (also called Nephronophthisis 2) is an inherited disorder that affects the kidneys and is typically present at birth. Often on an ultrasound during pregnancy, the kidneys may appear enlarged and/or have cysts on them. Reduced kidney function of the fetus during pregnancy can cause low amniotic fluid (oligohydramnios) that causes less room for the fetus to grow and may result in joint abnormalities (contractures), underdeveloped lungs, and facial differences. The kidney problems worsen with time and the kidneys usual stop working (end stage renal disease) by the age of 3 years. After the kidneys fail, affected children need dialysis followed by kidney transplantation. Some children with Infantile Nephronophthisis may have other problems as well that do not involve the kidneys. Situs Inversus, when the major organs of the body are found in the wrong place (they are reversed or mirrored from their normal positions in the chest and abdomen), may also occur. Some children with this condition also have heart defects, brain abnormalities, and an eye condition called retinitis pigmentosa which leads to vision loss. Currently there is no cure for Infantile Nephronophthisis and treatment is based on symptoms. What causes Infantile Nephronophthisis? Infantile Nephronophthisis is caused by a gene change, or mutation, in both copies of the INVS gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Infantile Neuroaxonal Dystrophy
|
PLA2G6 (NM_003560.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Infantile Neuroaxonal Dystrophy? Infantile Neuroaxonal Dystrophy is an inherited disorder that affects the brain and nervous system. Symptoms usually appear at between 6 months and 3 years of age with delays in crawling, speaking, and other skills. Over time, the child loses previously gained skills. The muscles become weak and stiff and affected children will have difficulty moving, eating, and breathing. Seizures, hearing and vision loss, and cognitive decline (dementia) occur over time. Many children with this early-onset form die by the age of 10. In some cases, symptoms may not appear until later childhood or the teen years and tend to progress more slowly over a longer period of time. Some affected individuals have a later-onset form sometimes called PLA2G6-Related Dystonia-Parkinsonism. Symptoms usually start in adolescence or adulthood and include walking problems, abnormal movements, and Parkinson disease, and sometimes dementia. Currently there is no cure for any form of this disorder and treatment is based on symptoms. What causes Infantile Neuroaxonal Dystrophy? Infantile Neuroaxonal Dystrophy is caused by a gene change, or mutation, in both copies of the PLA2G6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Infantile Spinal Muscular Atrophy, X-Linked
|
UBA1 (NM_003334.3) |
General population |
1 in 750000 |
1 in 74999901 |
99% |
|
What is Infantile Spinal Muscular Atrophy, X-Linked? Infantile Spinal Muscular Atrophy, X-Linked is an inherited disorder that affects mainly males. Baby boys with Infantile Spinal Muscular Atrophy, X-Linked are born with severe muscle weakness, lack of reflexes, and sometimes stiffness and abnormalities of the joints (arthrogryposis and contractures). The muscle weakness worsens over time. Boys with this condition have delayed development and lose motor skills as the muscle weakness progresses. Intelligence is not affected. Life span is shortened, usually due to severe breathing problems caused by the muscle weakness that worsens over time. Currently there is no cure for Infantile Spinal Muscular Atrophy, X-Linked and treatment is based on symptoms. What causes Infantile Spinal Muscular Atrophy, X-Linked? Infantile Spinal Muscular Atrophy, X-Linked is caused by a change, or mutation, in the UBA1 gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to the symptoms described above. |
Isolated Ectopia Lentis
|
ADAMTSL4 (NM_019032.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Isolated Lissencephaly Sequence / Subcortical Band Heterotopia
|
DCX (NM_178153.2) |
General population |
1 in 750000 |
1 in 74999901 |
99% |
|
What is Isolated Lissencephaly Sequence/Subcortical Band Heterotopia? Isolated Lissencephaly Sequence and Subcortical Band Heterotopia are related inherited disorders that cause abnormalities in the brain. Isolated Lissencephaly Sequence affects mainly males. Baby boys with Isolated Lissencephaly Sequence are born with a small and underdeveloped brain (called Microcephaly) that is smooth and lacks the normal grooves and folds (called Lissencephaly). Boys with Isolated Lissencephaly Sequence have severe intellectual disability, chronic epileptic seizures, weak muscle tone (hypotonia), muscle stiffness (spasticity) and breathing problems. Males with this condition usually cannot walk and don't have speech. Life span is often shortened. Subcortical Band Heterotopia (SBH) is a milder condition that affects some, but not all, females who carry a mutation in the same gene that causes Isolated Lissencephaly Sequence in males. In SBH, the nerves (neurons) of the brain are not in their correct place (heterotopia) and, instead, are found in bands underneath their normal position (subcortical). Symptoms of SBH vary widely from person to person and may include microcephaly, mild intellectual disability, language problems, developmental delays, behavior problems, and/or seizures. Currently there is no cure for Isolated Lissencephaly Sequence/Subcortical Band Heterotopia and treatment is based on symptoms. What causes Isolated Lissencephaly Sequence/Subcortical Band Heterotopia? Isolated Lissencephaly Sequence and Subcortical Band Heterotopia are caused by a change, or mutation, in the DCX gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly it can lead to the symptoms described above. |
Isolated Sulfite Oxidase Deficiency
|
SUOX (NM_000456.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Isolated Thyroid-Stimulating Hormone Deficiency
|
TSHB (NM_000549.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
IVD (NM_ 002225.3) |
Asian |
1 in 75 |
1 in 1481 |
>95% |
|
Caucasian |
1 in 144 |
1 in 2861 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Isovaleric Acidemia?
Isovaleric Acidemia is a type of autosomal recessive condition known as an organic acid disorder. People with Isovaleric Acidemia have problems breaking down an amino acid called leucine from the food they eat. This inability to breakdown proteins that contain leucine causes harmful substances to build up in their blood and urine. The symptoms of Isovaleric Acidemia range from mild to severe. In the severe form signs and symptoms can begin in the first days of life and include poor appetite, lethargy (extreme tiredness), vomiting, a “sweaty feet” smell, and seizures. Early death may occur if the condition is not treated. Children with a milder form of Isovaleric Acidemia may have failure to grow and gain weight at the typical rate and may have delayed development. Most people with Isovaleric Acidemia need lifelong dietary and medical treatment. However, there are rare individuals with Isovaleric Acidemia who never show symptoms.
What causes Isovaleric Acidemia?
Isovaleric Acidemia is caused by a gene change, or mutation, in both copies of the IVD gene pair. These mutations cause the genes to not work properly or not work at all. The function of the IVD genes is to break down a particular building block of protein (amino acid) called leucine. When both copies of this gene do not work correctly it leads to a toxic buildup of organic acids in the blood and causes the symptoms described above. |
Isovaleric Acidemia
|
IVD (NM_002225.3) |
Asian |
1 in 75 |
1 in 1481 |
>95% |
|
Caucasian |
1 in 144 |
1 in 2861 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
|
Isovaleric Acidemia
|
IVD (NM_002225.3) |
Asian |
1 in 75 |
1 in 7401 |
99% |
|
Caucasian |
1 in 144 |
1 in 14301 |
99% |
General population |
1 in 250 |
1 in 24901 |
99% |
|
Johanson-Blizzard Syndrome
|
UBR1 (NM_174916.2) |
General population |
1 in 250 |
1 in 24901 |
99% |
|
What is Johanson-Blizzard Syndrome? Johanson-Blizzard Syndrome is an inherited disorder that affects the bones, the bone marrow, and the pancreas. Signs and symptoms vary from person to person and may include the inability to properly absorb fats and other nutrients in the intestines due to problems with the pancreas. In this disorder, the pancreas is often unable to make enough digestive enzymes to break down food correctly, leading to poor growth and short stature. Other symptoms seen in some affected children include a small 'beak-shaped' nose, small upper jaw, pointed chin, missing tear ducts, cleft lip and/or palate, abnormal and/or absent teeth, sparse and light-colored hair, and sometimes other birth defects. Developmental delays, intellectual disability, and hearing loss are found in some affected individuals but not in others. Currently there is no cure for this disorder and treatment is based on symptoms and often includes daily supplementation with pancreatic enzymes and vitamins along with other supplements and medications as indicated and prescribed by a doctor. What causes Johanson-Blizzard Syndrome? Johanson-Blizzard Syndrome is caused by changes, or mutations, in both copies of the UBR1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the UBR1 gene do not work correctly it leads to the symptoms described above. |
Joubert Syndrome 2
|
TMEM216 (NM_001173990.2) |
Ashkenazi Jewish |
1 in 110 |
1 in 2181 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Joubert Syndrome 2 / Meckel Syndrome 2
|
TMEM216 (NM_001173990.2) |
Ashkenazi Jewish |
1 in 110 |
1 in 10901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Joubert Syndrome 2 / Meckel Syndrome 2
|
TMEM216 (NM_ 001173990.2) |
Ashkenazi Jewish |
1 in 110 |
1 in 2181 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Joubert Syndrome 2/Meckel Syndrome 2?
Joubert Syndrome 2 (also known as Cerebellooculorenal Syndrome 2) is an autosomal recessive disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome 2 begin in infancy and include rapid breathing, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children have intellectual disability that ranges from mild to severe, gait problems (ataxia), vision problems, and may have seizures, liver, and/or kidney disease.
Sometimes, specific mutations in the same gene cause a related autosomal recessive disorder called Meckel Syndrome 2. Signs and symptoms of Meckel Syndrome 2 include severe brain abnormalities such as encephalocele (bulging of part of the brain through an opening in the back of the skull), cysts on the liver and kidneys, extra fingers and toes, developmental delay, and intellectual disability. Some babies with Meckel Syndrome 2 also have a cleft lip and/or palate, underdeveloped eyes, and genital abnormalities. There is no cure for either of these disorders and lifespan is shortened.
What causes Joubert Syndrome 2/Meckel Syndrome 2?
Joubert Syndrome 2 and Meckel Syndrome are caused by a change, or mutation, in both copies of the TMEM216 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Joubert Syndrome And Related Disorders (Jsrd), Tmem67-Related
|
TMEM67 (NM_153704.5) |
General population |
1 in 316 |
1 in 31500 |
99% |
|
|
Joubert Syndrome, AHI1-Related
|
AHI1 (NM_017651.4) |
General population |
1 in 176 |
1 in 17501 |
99% |
|
What is Joubert Syndrome, AHI1-Related? Joubert Syndrome, AHI1-Related (also known as Joubert Syndrome 3) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, AHI1-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Currently, there is no cure or specific treatment for Joubert Syndrome, AHI1-Related. What causes Joubert Syndrome, AHI1-Related? Joubert Syndrome, AHI1-Related is caused by a change, or mutation, in both copies of the AHI1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Joubert Syndrome, ARL13B-Related
|
ARL13B (NM_182896.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, ARL13B-Related? Joubert Syndrome, ARL13B-Related (also known as Joubert Syndrome 8) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, ARL13B-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Currently, there is no cure or specific treatment for Joubert Syndrome, ARL13B-Related. What causes Joubert Syndrome, ARL13B-Related? Joubert Syndrome, ARL13B-Related is caused by a change, or mutation, in both copies of the ARL13B gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Joubert Syndrome, B9D1-Related
|
B9D1 (NM_015681.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, B9D1-Related? Joubert Syndrome, B9D1-Related (also known as Joubert Syndrome 27) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, B9D1-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Sometimes, specific mutations in the same gene cause a related disorder called Meckel Syndrome 9. Signs and symptoms of Meckel Syndrome 9 include severe brain abnormalities such as encephalocele (bulging of part of the brain through an opening in the back of the skull), cysts on the liver and kidneys, extra fingers and toes, developmental delay, and intellectual disability. Some babies with Meckel Syndrome 9 also have a cleft lip and/or palate, underdeveloped eyes, and genital abnormalities. There is no cure for either of these disorders and lifespan is shortened. Clinical trials involving potential new treatments for these conditions may be available (see www.clinicaltrials.gov). The information below is about Joubert Syndrome, B9D1-Related, the most common disorder, but it also applies to Meckel Syndrome 9, which is inherited in the same manner and has the same reproductive options. What causes Joubert Syndrome, B9D1-Related? Joubert Syndrome, B9D1-Related is caused by a change, or mutation, in both copies of the B9D1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms of one of the disorders described above. It is sometimes, but not always, possible to determine whether a specific mutation in the B9D1 gene will cause Joubert Syndrome, B9D1-Related or Meckel Syndrome 9. |
Joubert Syndrome, B9D2-Related
|
B9D2 (NM_030578.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, B9D2-Related? Joubert Syndrome, B9D2-Related (also known as Joubert Syndrome 34) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, B9D2-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Sometimes, specific mutations in the same gene cause a related disorder called Meckel Syndrome 10. Signs and symptoms of Meckel Syndrome 10 include severe brain abnormalities such as encephalocele (bulging of part of the brain through an opening in the back of the skull), cysts on the liver and kidneys, extra fingers and toes, developmental delay, and intellectual disability. Some babies with Meckel Syndrome 10 also have a cleft lip and/or palate, underdeveloped eyes, and genital abnormalities. There is no cure for either of these disorders and lifespan is shortened. The information below is about Joubert Syndrome, B9D2-Related, the more common disorder, but also applies to Meckel Syndrome 10, which is inherited in the same manner and has the same reproductive options. What causes Joubert Syndrome, B9D2-Related? Joubert Syndrome, B9D2-Related is caused by a change, or mutation, in both copies of the B9D2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the B9D2 gene will cause Joubert Syndrome, B9D2-Related or Meckel Syndrome 10. |
Joubert Syndrome, C2CD3-Related / Orofaciodigital Syndrome 14
|
C2CD3 (NM_015531.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, C2CD3-Related / Orofaciodigital Syndrome 14? Joubert Syndrome, C2CD3-Related is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, C2CD3-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Sometimes, specific mutations in the same gene cause a related disorder called Orofaciodigital Syndrome 14. Signs and symptoms of Orofaciodigital Syndrome 14 include small head size (microcephaly), other brain abnormalities, intellectual disability, cleft palate and tongue, extra fingers, and minor changes to the face. There is no cure or specific treatment for either of these disorders and lifespan may be shortened. What causes Joubert Syndrome, C2CD3-Related / Orofaciodigital Syndrome 14? Joubert Syndrome, C2CD3-Related and Orofaciodigital Syndrome 14 are both caused by a change, or mutation, in both copies of the C2CD3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the C2CD3 gene will cause Joubert Syndrome C2CD3-Related or Orofaciodigital Syndrome 14. |
Joubert Syndrome, CC2D2A-Related / COACH Syndrome
|
CC2D2A (NM_001080522.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, CC2D2A-Related / COACH Syndrome? Joubert Syndrome, CC2D2A-Related (also known as Joubert Syndrome 9) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, CC2D2A-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Sometimes, specific mutations in the same gene cause a related disorder, either COACH Syndrome or, less commonly, Meckel Syndrome 6. Signs and symptoms of COACH Syndrome include an underdeveloped cerebellum, intellectual disability, abnormal movements, and liver disease. Meckel Syndrome 6 has symptoms that include abnormalities of the brain (encephalocele), large cystic kidneys, and extra fingers and toes, and sometimes underdeveloped lungs. There is no cure or specific treatment for any of these disorders and lifespan may be shortened. What causes Joubert Syndrome, CC2D2A-Related / COACH Syndrome? Joubert Syndrome, CC2D2A-Related and COACH Syndrome are both caused by a change, or mutation, in both copies of the CC2D2A gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the CC2D2A gene will cause Joubert Syndrome CC2D2A-Related, COACH Syndrome, or the rare Meckel Syndrome 6. |
Joubert Syndrome, CEP104-Related
|
CEP104 (NM_014704.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, CEP104-Related? Joubert Syndrome, CEP104-Related (also known as Joubert Syndrome 25) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, CEP104-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Currently, there is no cure or specific treatment for Joubert Syndrome, CEP104-Related. What causes Joubert Syndrome, CEP104-Related? Joubert Syndrome, CEP104-Related is caused by a change, or mutation, in both copies of the CEP104 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Joubert Syndrome, CEP120-Related / Short-Rib Thoracic Dysplasia 13 with or without Polydactyly
|
CEP120 (NM_153223.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, CEP120-Related / Short-rib Thoracic Dysplasia 13 with or without Polydactyly? Joubert Syndrome, CEP120-Related (also known as Joubert Syndrome 31) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Some are born with changes to the bones that include short ribs with and limbs. Signs and symptoms of Joubert Syndrome, CEP120-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, extra fingers and toes, and liver, and/or kidney disease. Sometimes, specific mutations in the same gene cause a related disorder called Short-rib Thoracic Dysplasia 13 with or without Polydactyly. Signs and symptoms of this condition include short ribs and small rib cage - causing breathing problems which are sometimes severe - and short limbs. Extra fingers and/or toes (polydactyly), cleft lip and/or palate, abnormalities of the brain, eyes, heart, kidneys, and other organs occurs in some cases. Currently, there is no cure or specific treatment for Joubert Syndrome, CEP120-Related or Short-rib Thoracic Dysplasia 13 and lifespan may be shortened. What causes Joubert Syndrome, CEP120-Related / Short-rib Thoracic Dysplasia 13? Joubert Syndrome, CEP120-Related/Short-rib Thoracic Dysplasia 13 is caused by a change, or mutation, in both copies of the CEP120 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the CEP120 gene will cause Joubert Syndrome, CEP120-Related or Short-rib Thoracic Dysplasia 13. |
Joubert Syndrome, CEP41-Related
|
CEP41 (NM_018718.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, CEP41-Related? Joubert Syndrome, CEP41-Related (also known as Joubert Syndrome 15) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, CEP41-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, extra fingers and toes, and liver, and/or kidney disease. Currently, there is no cure or specific treatment for Joubert Syndrome, CEP41-Related. What causes Joubert Syndrome, CEP41-Related? Joubert Syndrome, CEP41-Related is caused by a change, or mutation, in both copies of the CEP41 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Joubert Syndrome, CPLANE1-Related / Orofaciodigital Syndrome 6
|
CPLANE1 (NM_023073.3) |
General population |
1 in 423 |
1 in 42201 |
99% |
|
What is Joubert Syndrome, CPLANE1-Related / Orofaciodigital Syndrome 6? Joubert Syndrome, CPLANE1-Related (also called Joubert Syndrome 17) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, CPLANE1-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Sometimes, specific mutations in the same gene cause a related disorder called Orofaciodigital Syndrome 6. Signs and symptoms of Orofaciodigital Syndrome 6 include breathing problems, intellectual disability, cleft palate, tongue abnormalities, and extra fingers and toes (polydactyly). Some affected individuals have heart defects, absence of smell and, in males, small penis and/or undescended testicles. There is no cure or specific treatment for either of these disorders. What causes Joubert Syndrome, CPLANE1-Related / Orofaciodigital Syndrome 6? Joubert Syndrome, CPLANE1-Related and Orofaciodigital Syndrome 6 are both caused by a change, or mutation, in both copies of the CPLANE1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the CPLANE1 gene will cause Joubert Syndrome CPLANE1-Related or Orofaciodigital Syndrome 6. |
Joubert Syndrome, CSPP1-Related
|
CSPP1 (NM_024790.6) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Joubert Syndrome, CSPP1-Related? Joubert Syndrome, CSPP1-Related (also known as Joubert Syndrome 21 or Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy features) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Some are born with changes to the bones that include short ribs with and limbs. Signs and symptoms of Joubert Syndrome, CSPP1-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, extra fingers and toes, and liver, and/or kidney disease. Currently, there is no cure or specific treatment for Joubert Syndrome, CSPP1-Related and lifespan may be shortened. What causes Joubert Syndrome, CSPP1-Related? Joubert Syndrome, CSPP1-Related is caused by a change, or mutation, in both copies of the CSPP1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Joubert Syndrome, INPP5E-Related
|
INPP5E (NM_019892.5) |
General population |
1 in 264 |
1 in 26301 |
99% |
|
What is Joubert Syndrome, INPP5E-Related? Joubert Syndrome, INPP5E-Related (also known as Joubert Syndrome 1) is an inherited disorder that affects many parts of the body. Affected children are born with abnormalities in the parts of the brain called the cerebellum and brainstem. Signs and symptoms of Joubert Syndrome, INPP5E-Related begin in infancy and include breathing problems, feeding problems, poor muscle tone, abnormal eye movements, unusual facial features, and developmental delay. Affected children may have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and liver, and/or kidney disease. Very rarely, specific mutations in the same gene cause a related disorder called MORM Syndrome. Signs and symptoms of MORM Syndrome include intellectual disability, obesity, abnormalities of the retinal causing vision problems, and, in males, a small penis. There is no cure or specific treatment for either of these disorders. The information below is about Joubert Syndrome, INPP5E-Related, the more common disorder, but it also applies to MORM Syndrome, which is inherited in the same manner and has the same reproductive options. What causes Joubert Syndrome, INPP5E-Related? Joubert Syndrome, INPP5E-Related is caused by a change, or mutation, in both copies of the INPP5E gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the INPP5E gene will cause Joubert Syndrome, INPP5E-Related or MORM Syndrome. |
Junctional Epidermolysis Bullosa, Col17A1-Related
|
COL17A1 (NM_000494.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Junctional Epidermolysis Bullosa, Itga6-Related
|
ITGA6 (NM_000210.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Junctional Epidermolysis Bullosa, Itgb4-Related
|
ITGB4 (NM_001005731.2) |
General population |
1 in 393 |
1 in 39200 |
99% |
|
|
Junctional Epidermolysis Bullosa, LAMA3-Related
|
LAMA3 (NM_000227.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
What is Junctional Epidermolysis Bullosa/Laryngoonychocutaneous Syndrome, LAMA3-Related? Junctional Epidermolysis Bullosa, LAMA3-Related and Laryngoonychocutaneous Syndrome, LAMA3-Related are related inherited disorders that cause chronic blistering of the skin and mucous membranes along with other symptoms. There are two forms of Junctional Epidermolysis Bullosa (JEB), LAMA3-Related. The most severe form, called Herlitz JEB, LAMA3-Related typically starts in infancy and causes very severe blistering across the body after any type of friction or injury. The severe blistering can occur anywhere on the skin, the lining of the mouth and airway, and/or the digestive tract. Babies and children often have problems eating and digesting food, which leads to poor growth and malnutrition. Red, bumpy, fragile patches on the skin, called granulation tissue, form over time and lead to bleeding, loss of fluids, and risk for infection. Breathing problems can occur when there is granulation tissue in the airway. Some babies also have birth defects of the kidneys and urinary tract. Many babies with Herlitz JEB, LAMA3-Related do not live past the age of one. The milder form of JEB, LAMA3-Related is called Non-Herlitz JEB, LAMA3-Related and has onset of symptoms typically in the newborn period which are less severe than Herlitz JEB, LAMA3-Related. Blistering in individuals with Non-Herlitz JEB, LAMA3-Related often occurs just on the hands, feet, knees, and elbows and often improves over time. People with Non-Herlitz JEB, LAMA3-Related may also have patchy hair loss (alopecia), weak tooth enamel, and misshapen and fragile finger and toenails. Laryngoonychocutaneous Syndrome, LAMA3-Related causes chronic blistering and patches of granulation tissue with the same risks of poor growth, malnutrition, dehydration, infection, and breathing problems as JEB, LAMA3-Related. In addition, people with this condition often develop vision loss due to build-up of granulation tissue in the eyes and have hoarse voices due to granulation tissue growth in the larynx. Most children with Laryngoonychocutaneous Syndrome, LAMA3-Relate do not live to adulthood. Currently, there is no cure for these disorders and treatment is based on symptoms. What causes Junctional Epidermolysis Bullosa/Laryngoonychocutaneous Syndrome, LAMA3-Related? Junctional Epidermolysis Bullosa, LAMA3-Related and Laryngoonychocutaneous Syndrome, LAMA3-Related are caused by a gene change, or mutation in both copies of the LAMA3 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the LAMA3 genes is to help form the basement membranes, the sheets of tissue that hold together the upper and lower layers of our skin (the epidermis and the dermis). When both copies of this gene do not work correctly, it leads to the symptoms of one of the disorders described above. It is sometimes, but not always, possible to determine whether a given mutation in the LAMA3 gene will cause Herlitz JEB, Non-Herlitz JEB, or Laryngoonychocutaneous Syndrome. |
Junctional Epidermolysis Bullosa, LAMB3-Related
|
LAMB3 (NM_000228.2) |
General population |
1 in 407 |
1 in 40601 |
99% |
|
What is Junctional Epidermolysis Bullosa, LAMB3-Related? Junctional Epidermolysis Bullosa (JEB), LAMB3-Related is an inherited disorder that causes chronic blistering of the skin and mucous membranes along with other symptoms. There are two forms of JEB, LAMB3-Related. The most severe form, called Herlitz JEB, LAMB3-Related typically starts in infancy and causes very severe blistering across the body after any type of friction or injury. The severe blistering can occur anywhere on the skin, the lining of the mouth and airway, and/or the digestive tract. Babies and children often have problems eating and digesting food, which leads to poor growth and malnutrition. Red, bumpy, fragile patches on the skin, called granulation tissue, form over time and lead to bleeding, loss of fluids, and risk for infection. Breathing problems can occur when there is granulation tissue in the airway. Some babies also have birth defects of the kidneys and urinary tract. Many babies with Herlitz JEB, LAMB3-Related do not live past the age of one. The milder form of JEB, LAMB3-Related is called Non-Herlitz JEB, LAMB3-Related and has symptoms that typically begin in the newborn period which are less severe than Herlitz JEB, LAMB3-Related. Blistering in individuals with Non-Herlitz JEB, LAMB3-Related often occurs just on the hands, feet, knees, and elbows and often improves over time. People with Non-Herlitz JEB, LAMB3-Related may also have patchy hair loss (alopecia), weak tooth enamel, and misshapen and fragile finger and toenails. Currently, there is no cure for JEB, LAMB3-Related and treatment is based on symptoms. What causes Junctional Epidermolysis Bullosa, LAMB3-Related? JEB, LAMB3-Related is caused by a gene change, or mutation, in both copies of the LAMB3 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the LAMB3 genes is to help form the basement membranes, the sheets of tissue that hold together the upper and lower layers of our skin (the epidermis and the dermis). When both copies of this gene do not work correctly, it leads to either the symptoms of Herlitz JEB, LAMB3-Related or Non-Herlitz JEB, LAMB3-Related. It is sometimes, but not always, possible to determine whether a specific mutation in the LAMB3 gene will cause Herlitz JEB, LAMB3-Related or Non-Herlitz JEB, LAMB3-Related. |
Junctional Epidermolysis Bullosa, LAMC2-Related
|
LAMC2 (NM_005562.2) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is Junctional Epidermolysis Bullosa, LAMC2-Related? Junctional Epidermolysis Bullosa (JEB), LAMC2-Related is an inherited disorder that causes chronic blistering of the skin and mucous membranes along with other symptoms. There are two forms of JEB, LAMC2-Related. The most severe form, called Herlitz JEB, LAMC2-Related, typically starts in infancy and causes very severe blistering across the body after any type of friction or injury. The severe blistering can occur anywhere on the skin, the lining of the mouth and airway, and/or the digestive tract. Babies and children often have problems eating and digesting food, which leads to poor growth and malnutrition. Red, bumpy, fragile patches on the skin, called granulation tissue, form over time and lead to bleeding, loss of fluids, and risk for infection. Breathing problems can occur when there is granulation tissue in the airway. Some babies also have birth defects of the kidneys and urinary tract. Many babies with Herlitz JEB, LAMC2-Related do not live past the age of one. The milder form of JEB, LAMC2-Related is called Non-Herlitz JEB, LAMC2-Related and has onset of symptoms typically in the newborn period which are less severe than Herlitz JEB LAMC2-Related. Blistering in individuals with Non-Herlitz JEB, LAMC2-Related often occurs just on the hands, feet, knees, and elbows and often improves over time. People with Non-Herlitz JEB, LAMC2-Related may also have patchy hair loss (alopecia), weak tooth enamel, and misshapen and fragile finger and toenails. Currently, there is no cure for these disorders and treatment is based on symptoms. What causes Junctional Epidermolysis Bullosa, LAMC2-Related? JEB, LAMC2-Related is caused by a gene change, or mutation, in both copies of the LAMC2 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the LAMC2 genes is to help form the basement membranes, the sheets of tissue that hold together the upper and lower layers of our skin (the epidermis and the dermis). When both copies of this gene do not work correctly, it leads either to the symptoms of Herlitz JEB LAMC2-Related or Non-Herlitz JEB LAMC2-Related. It is sometimes, but not always, possible to determine whether a given mutation in the LAMC2 gene will cause the Herlitz or Non-Herlitz form of JEB, LAMC2-Related. |
Juvenile Retinoschisis, X-Linked
|
RS1 (NM_000330.3) |
General population |
1 in 2500 |
1 in 50000 |
>95% |
|
|
Juvenile Retinoschisis, X-Linked
|
RS1 (NM_ 000330.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Juvenile Retinoschisis, X-Linked?
Juvenile Retinoschisis, X-Linked is an X-linked inherited condition that causes vision loss and occurs mainly in males. Males with this condition have slowly progressive loss of sight in childhood, usually identified by school age. Retinoschisis refers to the splitting of a part of the eye called the retina; this leads to progressive central vision loss from childhood to early adulthood. Vision then remains stable until 50 or 60 years of life, after which time it may significantly worsen. About half of males with this condition have loss of peripheral (side) vision. Some affected boys are unable to focus on an object (strabismus) and have involuntary eye movements (nystagmus). A small percentage of affected males will develop retinal detachment (separation of the retina) or bleeding in the blood vessels of the retina which can cause blindness.
What causes Juvenile Retinoschisis, X-Linked?
Juvenile Retinoschisis, X-Linked is caused by a change, or mutation, in the RS1 gene. This mutation causes the gene to not work properly or not work at all. The RS1 gene is important for the development and health of the retina. When this gene does not work correctly in a male, it leads to the symptoms described above. |
Juvenile Retinoschisis, X-Linked
|
RS1 (NM_000330.3) |
General population |
1 in 2500 |
1 in 249901 |
99% |
|
|
Krabbe Disease
|
GALC (NM_000153.3) |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
|
Druze Northern Israel |
1 in 6 |
1 in 501 |
99% |
General population |
1 in 150 |
1 in 14901 |
99% |
Muslim Arab (Jerusalem) |
1 in 6 |
1 in 501 |
99% |
|
Krabbe Disease
|
GALC (NM_000153.3) |
Druze Northern Israel |
1 in 6 |
1 in 101 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
>95% |
Muslim Arab (Jerusalem) |
1 in 6 |
1 in 101 |
>95% |
|
|
GALC (NM_ 000153.3) |
Druze Northern Israel |
1 in 6 |
1 in 101 |
>95% |
|
Muslim Arab - Jerusalem |
1 in 6 |
1 in 101 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Krabbe Disease?
Krabbe Disease is an autosomal recessive disorder. It is one type of inherited condition called a leukodystrophy that affects the brain and nervous system. Signs and symptoms usually begin in the first year of life and include irritability, poor muscle tone, stiff muscles, loss or delayed development of skills, hearing loss, vision loss, and failure to grow and gain weight at the expected rate. Symptoms worsen with time and affect swallowing and breathing, and seizures may develop. Death usually occurs by two years of age. Some affected individuals will have onset of symptoms in later childhood or early adulthood. These individuals can have vision loss, hearing loss, stiff muscles, and problems with walking and movement. The symptoms of the later onset form vary from person to person and disease progression is slower. In some cases, individuals with Krabbe Disease have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Krabbe Disease?
Krabbe Disease is caused by a gene change, or mutation, in both copies of the GALC gene pair. These mutations cause the gene to not work properly or not work at all. The normal function of the GALC genes is to help maintain myelin, a protective coating on the nerves in the body. When both of these genes do not work correctly, it leads to the symptoms described above. |
|
L1CAM (NM_000425.4) |
General population |
1 in 22500 |
1 in 2249901 |
99% |
|
What is L1 Syndrome? L1 Syndrome is an inherited disorder that causes problems in the nervous system and affects mainly males. Symptoms vary from person to person. In the most severe cases, an affected baby boy will be born with buildup of fluid in the brain (called hydrocephalus), stiff muscles (spasticity), intellectual disability, and thumbs that are bent in toward the palms (adducted thumbs), a group of symptoms sometimes called HSAS Syndrome. In other cases, symptoms may include mild to moderate intellectual disability, speech delays, weak muscle tone progressing to spasticity, and adducted thumbs (sometimes called MASA Syndrome). In other cases, symptoms include worsening muscle spasticity and paralysis of arms and legs along with intellectual disability; this is sometimes called Spastic Paraplegia, Type 1. Finally, some boys with L1 Syndrome have mild to moderate intellectual disability, absence or underdevelopment of the corpus callosum (the connection between the two halves of the brain), and sometimes spasticity and/or paralysis of the limbs, a set of symptoms sometimes called X-Linked Complicated Corpus Callosum Agenesis. Life span may be shortened depending on the severity of the symptoms. Currently there is no cure for any form of L1 Syndrome and treatment is based on symptoms. What causes L1 Syndrome? L1 Syndrome is caused by a change, or mutation, in the L1CAM gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to the symptoms described above. It is sometimes, but not always, possible to determine which form of L1 Syndrome a specific mutation in the L1CAM gene will cause. |
Lamellar Ichthyosis, Type 1
|
TGM1 (NM_ 000359.2) |
Caucasian |
1 in 253 |
1 in 5041 |
>95% |
|
Norwegian |
1 in 151 |
1 in 3001 |
>95% |
General population |
1 in 301 |
1 in 6001 |
>95% |
What is Lamellar Ichthyosis, Type 1?
Lamellar Ichthyosis, Type 1 is an autosomal recessive disorder that affects the skin. Children with this disorder are born with a clear fitted covering over their body called a collodion membrane. After about 10 to 14 days of life this membrane peels off, leaving skin that is covered with white or brownish scales. Eyelids and lips may turn outward, fingernails and toenails may develop abnormally and hair loss may occur. Affected infants may develop skin infections, dehydration, and breathing problems, and in some cases, serious joint problems. Some infants will have improvement of their skin condition with time, and for others the skin problems may be lifelong.
Rarely, specific mutations in the same gene pair causes a different type of ichthyosis, either ‘Self-Improving Collodion Ichthyosis’ in which affected babies are born with a collodion membrane but typically do not have severe lifelong skin problems, or ‘Bathing Suit Ichthyosis’ in which dark gray skin scales affect only the trunk area and not the limbs or face.
What causes Lamellar Ichthyosis, Type 1?
Lamellar Ichthyosis, Type 1 is caused by a gene change, or mutation, in both copies of the TGM1 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the TGM1 genes is to help in the development of the skin. When both copies of this gene do not work correctly it leads to the symptoms described above. |
Lamellar Ichthyosis, Type 1
|
TGM1 (NM_000359.2) |
Caucasian |
1 in 253 |
1 in 25201 |
99% |
|
General population |
1 in 301 |
1 in 30001 |
99% |
Norwegian |
1 in 151 |
1 in 15001 |
99% |
|
Lamellar Ichthyosis, Type I
|
TGM1 (NM_000359.2) |
Caucasian |
1 in 253 |
1 in 5041 |
>95% |
|
General population |
1 in 301 |
1 in 6001 |
>95% |
Norwegian |
1 in 151 |
1 in 3001 |
>95% |
|
Laron Syndrome
|
GHR (NM_000163.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Leber Congenital Amaurosis 2
|
RPE65 (NM_000329.2) |
General population |
1 in 228 |
1 in 22701 |
99% |
|
Sephardic Jewish - North African |
1 in 90 |
1 in 8901 |
99% |
|
Leber Congenital Amaurosis 2
|
RPE65 (NM_ 000329.2) |
Sephardic Jewish - North African |
1 in 90 |
1 in 1781 |
>95% |
|
General population |
1 in 228 |
1 in 4541 |
>95% |
What is Leber Congenital Amaurosis 2?
Leber Congenital Amaurosis 2 is an autosomal recessive disorder that causes vision loss. Eyesight problems begin in infancy. The vision loss worsens over time and by adulthood affected individuals have total blindness. Affected individuals may also have sensitivity to light, abnormal eye movements (nystagmus), and may have behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin cornea (clear outer covering of the eye) may also be present.
Very rarely, later onset of vision loss occurs, starting with loss of night vision in childhood. The vision loss progresses over time to include peripheral (side) vision, then central vision. This rare form of the disorder is called Retinitis Pigmentosa 20. Currently there is no cure for these conditions, although clinical trials of gene therapy for Leber Congenital Amaurosis 2 have shown promising results.
What causes Leber Congenital Amaurosis 2?
Leber Congenital Amaurosis 2 is caused by a gene change, or mutation, in both copies of the RPE65 gene. These mutations cause the genes to not work properly or not work at all. The normal function of the RPE65 gene is important in the development of the retina (tissue at the back of the eye that processes light and color). When both copies of this gene pair do not work correctly, it leads to the vision loss symptoms described above. |
Leber Congenital Amaurosis Type Aipl1
|
AIPL1 (NM_014336.4) |
General population |
1 in 408 |
1 in 40700 |
99% |
|
|
Leber Congenital Amaurosis Type Gucy2D
|
GUCY2D (NM_000180.3) |
General population |
1 in 204 |
1 in 20300 |
99% |
|
|
Leber Congenital Amaurosis Type Lrat
|
LRAT (NM_004744.4) |
General population |
1 in 296 |
1 in 29500 |
99% |
|
|
Leber Congenital Amaurosis Type Tulp1
|
TULP1 (NM_003322.4) |
General population |
1 in 296 |
1 in 29500 |
99% |
|
|
Leber Congenital Amaurosis, IQCB1-Related / Senior-Loken Syndrome 5
|
IQCB1 (NM_001023570.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Leber Congenital Amaurosis, IQCB1-Related/Senior-Loken Syndrome 5? Leber Congenital Amaurosis, IQCB1-Related and Senior-Loken Syndrome 5 are related inherited disorders that cause vision loss. In Leber Congenital Amaurosis, IQB1-Related, eyesight problems begin in the first few years of life. Vision loss worsens over time, and by adulthood people with this condition typically have total blindness. Other symptoms may include sensitivity to light, abnormal eye movements (nystagmus), and behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin corneas (clear outer covering of the eye) may also be present. Senior-Loken Syndrome 5 has the same symptoms as Leber Congenital Amaurosis but also includes kidney disease that worsens with time. Currently there is no cure for either of these disorders and treatment is based on symptoms. What causes Leber Congenital Amaurosis, IQCB1-Related/Senior-Loken Syndrome 5? Leber Congenital Amaurosis, IQCB1-Related and Senior-Loken Syndrome 5 are caused by a gene change, or mutation, in both copies of the IQCB1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine which disorder a specific mutation in the IQCB1 gene will cause. |
Leber Congenital Amaurosis, LCA5-Related
|
LCA5 (NM_181714.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Leber Congenital Amaurosis, RPE65-Related
|
RPE65 (NM_000329.2) |
General population |
1 in 228 |
1 in 4541 |
>95% |
|
Sephardic Jewish - North African |
1 in 90 |
1 in 1781 |
>95% |
|
Leber Congenital Amaurosis, Type CEP290
|
CEP290 (NM_ 025114.3) |
General population |
1 in 185 |
1 in 3681 |
>95% |
|
What is Leber Congenital Amaurosis, Type CEP290?
Leber Congenital Amaurosis, Type CEP290 is an autosomal recessive disorder that causes vision loss. Eyesight problems begin in infancy. Vision loss worsens over time and by adulthood people with this condition have total blindness. Other symptoms may include sensitivity to light, abnormal eye movements (nystagmus), and behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin corneas (clear outer covering of the eye) may also be present.
Rarely, mutations in the same pair of genes that cause Leber Congenital Amaurosis, Type CEP290 may instead cause one of a number of related genetic disorders including Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome, and Senior-Loken Syndrome. The symptoms of these conditions are similar to each other and often overlap. Meckel Syndrome causes serious birth defects and most children do not live past infancy. Symptoms of Bardet-Biedl and Joubert Syndrome include multiple birth defects of the brain and other organs, developmental delay and intellectual disability, vision loss, and kidney problems as well as other health problems. Senior-Loken Syndrome has the same symptoms as Leber Congenital Amaurosis but also includes kidney disease that worsens with time.
What causes Leber Congenital Amaurosis, Type CEP290?
Leber Congenital Amaurosis, Type CEP290 is caused by a gene change, or mutation, in both copies of the CEP290 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly it leads to the symptoms described above. |
Leber Congenital Amaurosis, Type CEP290
|
CEP290 (NM_025114.3) |
General population |
1 in 185 |
1 in 18401 |
99% |
|
|
Leber Congenital Amaurosis, Type CEP290-Related
|
CEP290 (NM_025114.3) |
General population |
1 in 185 |
1 in 3681 |
>95% |
|
|
Leber Congenital Amaurosis, Type LCA5
|
LCA5 (NM_181714.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Leber Congenital Amaurosis, Type LCA5
|
LCA5 (NM_ 181714.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Leber Congenital Amaurosis, Type LCA5?
Leber Congenital Amaurosis, Type LCA5 is an autosomal recessive disorder that causes severe vision loss. Eyesight problems begin in infancy. The vision loss may stay the same or may worsen slowly over time. Affected individuals may also have sensitivity to light, abnormal eye movements (nystagmus), and may have behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin cornea (clear outer covering of the eye) may also be present.
What causes Leber Congenital Amaurosis, Type LCA5?
Leber Congenital Amaurosis, Type LCA5 is caused by a gene change, or mutation, in both copies of the LCA5 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the LCA5 gene is important in the development of the retina (tissue at the back of the eye that processes light and color). When both copies of this gene do not work correctly, it leads to the vision loss symptoms described above. |
Leber Congenital Amaurosis, Type RDH12
|
RDH12 (NM_ 152443.2) |
General population |
1 in 456 |
1 in 9101 |
>95% |
|
What is Leber Congenital Amaurosis, Type RDH12?
Leber Congenital Amaurosis, Type RDH12 (also called Leber Congenital Amaurosis 13) is an autosomal recessive disorder that causes vision loss. Eyesight problems begin in early childhood. The vision loss worsens over time and by adulthood people with this condition may have total blindness. People with Leber Congenital Amaurosis, Type RDH12 may also have sensitivity to light, abnormal eye movements (nystagmus), and may have behavior involving repeated rubbing or pressing on the eyes with the fingers or knuckles. Cataracts and thin cornea (clear outer covering of the eye) may also be present.
Very rarely, specific mutations in the same gene pair cause a different form of vision loss, called Retinitis Pigmentosa 13, causing later onset of vision loss, starting with loss of night vision in childhood. The vision loss in Retinitis Pigmentosa 13 progresses over time to include peripheral (side) vision, then central vision. Currently there is no cure for these conditions.
What causes Leber Congenital Amaurosis, Type RDH12?
Leber Congenital Amaurosis, Type RDH12 is caused by a gene change, or mutation, in both copies of the RDH12 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the RDH12 gene is important in the development of the retina (tissue at the back of the eye that processes light and color). When both copies of this gene do not work correctly, it leads to the vision loss symptoms described above.
It is sometimes, but not always, possible to determine whether a specific mutation in the RDH12 gene will cause Leber Congenital Amaurosis, Type RDH12 or Retinitis Pigmentosa 13. |
Leber Congenital Amaurosis, Type RDH12
|
RDH12 (NM_152443.2) |
General population |
1 in 456 |
1 in 45501 |
99% |
|
|
Leber Congential Amaurosis, RDH12-Related
|
RDH12 (NM_152443.2) |
General population |
1 in 456 |
1 in 9101 |
>95% |
|
|
Leigh Syndrome, French-Canadian
|
LRPPRC (NM_133259.3) |
French Canadian - Saguenay Lac-St. Jean |
1 in 23 |
1 in 441 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Leigh Syndrome, French-Canadian Type
|
LRPPRC (NM_133259.3) |
French Canadian - Saguenay Lac-St. Jean |
1 in 23 |
1 in 2201 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Leigh Syndrome, French-Canadian Type
|
LRPPRC (NM_ 133259.3) |
French Canadian - Saguenay Lac-St. Jean |
1 in 23 |
1 in 441 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Leigh Syndrome, French-Canadian Type?
Leigh Syndrome, French-Canadian Type is an autosomal recessive disorder that affects the brain and nervous system. Signs and symptoms begin in infancy and include developmental delay, unusual facial features, poor muscle tone, failure to grow at the expected rate, feeding problems, and abnormal movements. Symptoms worsen with time. Brain abnormalities may be seen on brain imaging tests such as MRI. Affected infants can have life-threatening health problems including seizures and breathing problems. A thickening of the heart muscle (hypertrophic cardiomyopathy) may occur. Death often occurs in infancy or early childhood. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Leigh Syndrome, French-Canadian Type?
Leigh Syndrome, French-Canadian Type is caused by a gene change, or mutation, in both copies of the LRPPRC gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the LRPPRC genes is to help make energy in the cells in the body. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
HPRT1 (NM_000194.2) |
General population |
1 in 176000 |
1 in 17599901 |
99% |
|
What is Lesch-Nyhan Syndrome? Lesch-Nyhan Syndrome is an inherited disorder that affects mainly males. Boys with Lesch-Nyhan Syndrome are missing an enzyme needed to clear uric acid from the body. Uric acid is a waste product that's usually excreted in the urine. However, in Lesch-Nyhan Syndrome, uric acid builds up in the blood, causing nervous system and behavior problems. Symptoms usually start before age 1 and affected boys often have abnormal muscle movements such as repeated jerking and involuntary movements of the arms and legs, and they tend to bite themselves and bang their heads repeatedly. Boys with this condition usually do not walk and typically have severe intellectual disability. They may also have a form of arthritis called gouty arthritis caused when uric acid builds up in the joints and some develop have kidney and bladder stones. Life span is shortened, usually due to severe breathing problems caused by the muscle weakness that worsen over time. Currently there is no cure for Lesch-Nyhan Syndrome and treatment is based on symptoms. What causes Lesch-Nyhan Syndrome? Lesch-Nyhan Syndrome is caused by a change, or mutation, in the HPRT1 gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to the symptoms described above. |
Lethal Congenital Contracture Syndrome 1
|
GLE1 (NM_001003722.1) |
Finnish |
1 in 100 |
1 in 9901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Lethal Congenital Contracture Syndrome 1
|
GLE1 (NM_001003722.1) |
Finnish |
1 in 100 |
1 in 1981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Lethal Congenital Contracture Syndrome 1
|
GLE1 (NM_ 001003722.1) |
Finnish |
1 in 100 |
1 in 1981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9900 |
>95% |
What is Lethal Congenital Contracture Syndrome 1?
Lethal Congenital Contracture Syndrome 1 is an autosomal recessive disorder that affects the brain, muscles, and joints. Signs and symptoms of Lethal Congenital Contracture Syndrome 1 are present before birth and include lack of muscle development, joints in the limbs that do not move, severe swelling (hydrops), and underdeveloped lungs. Most affected fetuses die before birth or are stillborn. A slightly less severe form of this condition, called Lethal Arthrogryposis with Anterior Horn Cell Disease, has similar symptoms that include lack of movement during pregnancy, stiffness of the joints, and severe breathing problems. Most infants with Lethal Arthrogryposis with Anterior Horn Cell Disease are live born but usually die in infancy due to severe breathing problems. Currently there is no cure for either form of this disorder.
What causes Lethal Congenital Contracture Syndrome 1?
Lethal Congenital Contracture Syndrome 1 is caused by a gene change, or mutation, in both copies of the GLE1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work properly, it leads to the symptoms described above. |
Leukoencephalopathy With Vanishing White Matter, Eif2B1-Related
|
EIF2B1 (NM_001414.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Leukoencephalopathy With Vanishing White Matter, Eif2B2-Related
|
EIF2B2 (NM_014239.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Leukoencephalopathy With Vanishing White Matter, Eif2B3-Related
|
EIF2B3 (NM_020365.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Leukoencephalopathy With Vanishing White Matter, Eif2B4-Related
|
EIF2B4 (NM_015636.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Leukoencephalopathy with Vanishing White Matter
|
EIF2B5 (NM_ 003907.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Leukoencephalopathy with Vanishing White Matter?
Leukoencephalopathy with Vanishing White Matter is an autosomal recessive disorder that affects the brain and nervous system. Signs and symptoms of this disorder usually begin in early childhood and begin with difficulty with movement and coordination and loss of developmental milestones that worsen over time. Affected children can have stiff muscles, seizures, and intellectual disability. A severe increase in symptoms can happen after mild head injury. “Vanishing white matter” refers to the progressive loss of brain tissue that can be seen on brain imaging tests such as MRI in people with this condition. The severe form of this condition has symptoms that start in infancy and leading to death in infancy or early childhood. Some people may have a milder form with symptoms beginning in adolescence. Psychiatric problems are more common in later onset forms.
What causes Leukoencephalopathy with Vanishing White Matter?
Leukoencephalopathy with Vanishing White Matter is caused by a gene change, or mutation, in both copies of the EIF2B5 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the EIF2B5 gene pair do not work correctly, it leads to the symptoms described above. |
Leukoencephalopathy with Vanishing White Matter
|
EIF2B5 (NM_003907.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Leukoencephalopathy with Vanishing White Matter
|
EIF2B5 (NM_003907.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Lig4 Syndrome
|
LIG4 (NM_002312.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Limb-Girdle Muscular Dystrophy Type 8
|
TRIM32 (NM_012210.3) |
General population |
1 in 408 |
1 in 40700 |
99% |
|
|
Limb-Girdle Muscular Dystrophy, Type 2A
|
CAPN3 (NM_000070.2) |
Amish |
1 in 50 |
1 in 4901 |
>99% |
|
Asian |
1 in 238 |
1 in 4741 |
>95% |
Caucasian |
1 in 130 |
1 in 1291 |
90% |
General population |
1 in 158 |
1 in 3141 |
>95% |
Hispanic |
1 in 260 |
1 in 5181 |
>95% |
|
Limb-Girdle Muscular Dystrophy, Type 2A
|
CAPN3 (NM_ 000070.2) |
Amish |
unknown |
unknown |
>95% |
|
Asian |
1 in 238 |
1 in 4741 |
>95% |
Caucasian |
1 in 130 |
1 in 1291 |
90% |
Hispanic |
1 in 260 |
1 in 5181 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Limb-Girdle Muscular Dystrophy, Type 2A?
Limb-Girdle Muscular Dystrophy, Type 2A is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders. Over time, Limb-Girdle Muscular Dystrophy, Type 2A causes weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Onset of symptoms varies between age 2 to age 40, but often starts in adolescence or early adulthood. Muscle weakness leads to difficulty in walking, running, and getting up from the floor. The muscle weakness usually worsens very slowly with age. Over time, some people with this condition need the use of a wheelchair. Currently, there is no cure for this condition and treatment is based on symptoms.
What causes Limb-Girdle Muscular Dystrophy, Type 2A?
Limb-Girdle Muscular Dystrophy, Type 2A is caused by a gene change, or mutation, in both copies of the CAPN3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene are not working correctly, it leads to the symptoms described above. |
Limb-Girdle Muscular Dystrophy, Type 2A
|
CAPN3 (NM_000070.2) |
Amish |
1 in 50 |
1 in 4901 |
99% |
|
Caucasian |
1 in 103 |
1 in 10201 |
99% |
East Asian |
1 in 232 |
1 in 23101 |
99% |
General population |
1 in 602 |
1 in 60101 |
99% |
Hispanic |
1 in 260 |
1 in 25901 |
99% |
|
Limb-Girdle Muscular Dystrophy, Type 2B
|
DYSF (NM_003494.3) |
Caucasian |
1 in 158 |
1 in 15701 |
99% |
|
General population |
1 in 311 |
1 in 31001 |
99% |
|
Limb-Girdle Muscular Dystrophy, Type 2B
|
DYSF (NM_003494.3) |
General population |
1 in 311 |
1 in 6201 |
>95% |
|
Sephardic Jewish, Libyan, Moroccan, Tunisian, Bulgarian |
1 in 14 |
1 in 261 |
>95% |
|
Limb-Girdle Muscular Dystrophy, Type 2B
|
DYSF (NM_ 003494.3) |
Sephardic Jewish - Libyan, Kavkazi, Yemenite |
1 in 14 |
1 in 261 |
>95% |
|
General population |
1 in 311 |
1 in 6201 |
>95% |
What is Limb-Girdle Muscular Dystrophy, Type 2B?
Limb-Girdle Muscular Dystrophy, Type 2B is autosomal recessive. It is one of a group of autosomal recessive disorders that affect the muscles of the hips and shoulders. Limb-Girdle Muscular Dystrophy, Type 2B causes progressive weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Onset of symptoms varies but usually starts in adolescence or early adulthood. Muscle weakness usually worsens very slowly with age and leads to problems in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair. Currently, there is no cure for this condition and treatment is based on symptoms.
Rarely, mutations in the same pair of genes that cause Limb-Girdle Muscular Dystrophy, Type 2B instead cause a related disorder, either Miyoshi Myopathy or Distal Myopathy with Anterior Tibial Onset. Miyoshi Myopathy is most common in people of Japanese ancestry and causes progressive weakness and wasting of the leg and arm muscles, with leg muscles being more severely affected. Distal Myopathy with Anterior Tibial Onset includes progressive weakness of the leg muscles, beginning with the lower leg muscles and later the upper leg muscles, eventually leading to the need for a wheelchair.
What causes Limb-Girdle Muscular Dystrophy, Type 2B?
Limb-Girdle Muscular Dystrophy, Type 2B is caused by a gene change, or mutation, in both copies of the DYSF gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Limb-Girdle Muscular Dystrophy, Type 2C
|
SGCG (NM_ 000231.2) |
Moroccan |
1 in 250 |
1 in 4981 |
>95% |
|
Roma |
1 in 96 |
1 in 1901 |
>95% |
General population |
1 in 354 |
1 in 2716 |
87% |
What is Limb-Girdle Muscular Dystrophy, Type 2C?
Limb-Girdle Muscular Dystrophy, Type 2C is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders. Over time, Limb-Girdle Muscular Dystrophy, Type 2C leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair. Problems with the joints and the heart and breathing difficulties may also occur. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Limb-Girdle Muscular Dystrophy, Type 2C?
Limb-Girdle Muscular Dystrophy, Type 2C is caused by a gene change, or mutation, in both copies of the SGCG gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the SGCG genes is important for healthy muscle development. When both copies of the SGCG gene do not work correctly, it leads to the symptoms described above. |
Limb-Girdle Muscular Dystrophy, Type 2C
|
SGCG (NM_000231.2) |
General population |
1 in 354 |
1 in 35301 |
99% |
|
Moroccan |
1 in 250 |
1 in 24901 |
99% |
Roma |
1 in 96 |
1 in 9501 |
99% |
|
Limb-Girdle Muscular Dystrophy, Type 2C
|
SGCG (NM_000231.2) |
General population |
1 in 354 |
1 in 2716 |
87% |
|
Moroccan |
1 in 250 |
1 in 4981 |
>95% |
Roma |
1 in 96 |
1 in 1901 |
>95% |
|
Limb-Girdle Muscular Dystrophy, Type 2D
|
SGCA (NM_000023.2) |
Caucasian |
1 in 290 |
1 in 5781 |
>95% |
|
Finnish |
1 in 150 |
1 in 2981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Limb-Girdle Muscular Dystrophy, Type 2D
|
SGCA (NM_ 000023.2) |
Caucasian |
1 in 290 |
1 in 5781 |
>95% |
|
Finnish |
1 in 150 |
1 in 2981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Limb-Girdle Muscular Dystrophy, Type 2D?
Limb-Girdle Muscular Dystrophy, Type 2D is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders. Over time, Limb-Girdle Muscular Dystrophy, Type 2D leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood or early adulthood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair. Less commonly, problems with the joints and the heart and breathing difficulties may occur. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Limb-Girdle Muscular Dystrophy, Type 2D?
Limb-Girdle Muscular Dystrophy, Type 2D is caused by a gene change, or mutation, in both copies of the SGCA gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the SGCA gene is important for healthy muscle development. When both copies of the SGCA gene do not work correctly, it leads to the symptoms described above. |
Limb-Girdle Muscular Dystrophy, Type 2D
|
SGCA (NM_000023.3) |
Caucasian |
1 in 290 |
1 in 28901 |
99% |
|
Finnish |
1 in 150 |
1 in 14901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Limb-Girdle Muscular Dystrophy, Type 2E
|
SGCB (NM_000232.4) |
Caucasian |
1 in 406 |
1 in 40501 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Limb-Girdle Muscular Dystrophy, Type 2E
|
SGCB (NM_000232.4) |
Caucasian |
1 in 406 |
1 in 1126 |
64% |
|
General population |
<1 in 500 |
1 in 7130 |
93% |
|
Limb-Girdle Muscular Dystrophy, Type 2E
|
SGCB (NM_ 000232.4) |
Caucasian |
1 in 406 |
1 in 1126 |
64% |
|
General population |
1 in 500 |
1 in 7130 |
93% |
What is Limb-Girdle Muscular Dystrophy, Type 2E?
Limb-Girdle Muscular Dystrophy, Type 2E is autosomal recessive and one of a group of inherited disorders that affect the muscles of the hips and shoulders. Over time, Limb-Girdle Muscular Dystrophy, Type 2E leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood or early adulthood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair. Less commonly, problems with the joints and the heart and breathing difficulties may occur. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Limb-Girdle Muscular Dystrophy, Type 2E?
Limb-Girdle Muscular Dystrophy, Type 2E is caused by a gene change, or mutation, in both copies of the SGCB gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the SGCB genes is important for healthy muscle development. When both copies of the SGCB gene pair do not work correctly, it leads to the symptoms described above. |
Limb-Girdle Muscular Dystrophy, Type 2F
|
SGCD (NM_000337.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Limb-Girdle Muscular Dystrophy, Type 2F? Limb-Girdle Muscular Dystrophy, Type 2F is one of a group of inherited disorders that affect the muscles of the hips and shoulders. Over time, Limb-Girdle Muscular Dystrophy, Type 2F leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood or early adulthood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair. Rare individuals with Limb-Girdle Muscular Dystrophy, Type 2F may also have a condition called Dilated Cardiomyopathy, which causes an enlarged and weakened heart. Currently there is no cure for this condition and treatment is based on symptoms. What causes Limb-Girdle Muscular Dystrophy, Type 2F? Limb-Girdle Muscular Dystrophy, Type 2F is caused by a gene change, or mutation, in both copies of the SGCD gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the SGCD genes is important for healthy muscle development. When both copies of the SGCD gene pair do not work correctly, it leads to the symptoms described above. |
Limb-Girdle Muscular Dystrophy, Type 2I
|
FKRP (NM_ 024301.4) |
Norwegian |
1 in 116 |
1 in 2301 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Limb-Girdle Muscular Dystrophy, Type 2I?
Limb-Girdle Muscular Dystrophy, Type 2I is autosomal recessive. It is one of a group of autosomal recessive disorders that affect the muscles of the hips and shoulders. Over time, Limb-Girdle Muscular Dystrophy Type 2I leads to weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Symptoms vary from person to person but usually begin in childhood or early adulthood and worsen slowly over many years. Muscle weakness and atrophy lead to difficulty in walking, running, and getting up from the floor. Over time, some people with this condition need the use of a wheelchair. As the disease progresses, kidney, heart, and joint problems, as well as breathing difficulties may occur.
Less often, mutations in the same pair of genes cause a related but more severe disorder called Walker-Warburg Syndrome. Walker-Warburg Syndrome causes abnormalities of the brain and eyes along with severe muscle weakness that begins in infancy. Babies with this condition who have brain abnormalities usually do not live past early childhood. Some children do not have the brain and eye abnormalities and may live longer, although life span is still shortened. Currently there is no cure for these conditions and treatment is based on symptoms.
What causes Limb-Girdle Muscular Dystrophy, Type 2I?
Limb-Girdle Muscular Dystrophy, Type 2I is caused by a gene change, or mutation, in both copies of the FKRP gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the FKRP gene is important for healthy muscle development. When both copies of the FKRP gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the FKRP gene will cause Limb-Girdle Muscular Dystrophy, Type 2I or Walker-Warburg Syndrome. |
Limb-Girdle Muscular Dystrophy, Type 2I
|
FKRP (NM_024301.4) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
Norwegian |
1 in 116 |
1 in 11501 |
99% |
|
Limb-Girdle Muscular Dystrophy, Type 2I
|
FKRP (NM_024301.4) |
General population |
1 in 158 |
1 in 3141 |
>95% |
|
Norwegian |
1 in 116 |
1 in 2301 |
>95% |
|
Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency)
|
DLD (NM_ 000108.4) |
Ashkenazi Jewish |
1 in 107 |
1 in 2121 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency)?
Lipoamide Dehydrogenase Deficiency (also known as Dihydrolipoamide Dehydrogenase Deficiency or Maple Syrup Urine Disease Type 3) is an autosomal recessive disorder that causes the buildup of a toxic substance called lactic acid in the body. Symptoms often begin between one and six months of age and include rapid breathing and heartbeat, nausea and vomiting, low muscle tone (hypotonia), abnormal movements, lack of energy, and poor growth that sometimes leads to early death. Infants and children with Lipoamide Dehydrogenase Deficiency who survive often have developmental delay, intellectual disability, stiff muscles (spasticity), abnormal movements, and seizures. A special medical diet, supplements, and other medical treatments are used to try to slow down the progression of the symptoms but there is no cure. A less common form of this condition causes only liver disease which can progress over time to liver failure; symptoms can start as early as birth but often start later in adulthood.
What causes Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency)?
Lipoamide Dehydrogenase Deficiency is caused by a gene change, or mutation, in both copies of the DLD gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene are not working correctly, it leads to the symptoms described above. |
Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency)
|
DLD (NM_000108.4) |
Ashkenazi Jewish |
1 in 94 |
1 in 9301 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Lipoid Adrenal Hyperplasia
|
STAR (NM_000349.2) |
East Asian |
1 in 177 |
1 in 17601 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Lipoid Adrenal Hyperplasia
|
STAR (NM_ 000349.2) |
East Asian |
1 in 177 |
1 in 3521 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Lipoid Adrenal Hyperplasia?
Lipoid Adrenal Hyperplasia is a rare autosomal recessive disorder in which the adrenal glands cannot make certain steroid hormones. There are two forms of Lipoid Adrenal Hyperplasia; a classic form and a non-classic form. In the classic form, life-threatening symptoms begin within the first few months of life if not treated. The lack of adrenal hormones causes severe salt loss in the urine, leading to dehydration and death unless hormone replacement is started. Males with the classic form are born with external genitals that look female. This is caused by problems with sex hormone production. In the non-classic form, symptoms are less severe and start later in infancy or childhood and do not show the genital changes seen in the classic form. Medical treatment with hormone replacement may help prevent or reduce symptoms of this condition.
What causes Lipoid Adrenal Hyperplasia?
Lipoid Adrenal Hyperplasia is caused by a gene change, or mutation, in both copies of the STAR gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the STAR gene do not work correctly, the body cannot make specific steroid hormones, leading to the symptoms described above. |
Lipoid Congenital Adrenal Hyperplasia
|
STAR (NM_000349.2) |
East Asian |
1 in 177 |
1 in 3521 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Lipoprotein Lipase Deficiency
|
LPL (NM_000237.2) |
Asian |
1 in 189 |
1 in 571 |
67% |
|
Caucasian |
< 1 in 500 |
1 in 1560 |
68% |
French Canadian - Other |
1 in 139 |
1 in 2761 |
>95% |
French Canadian - Saguenay Lac-St. Jean |
1 in 46 |
1 in 901 |
>95% |
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
Lipoprotein Lipase Deficiency
|
LPL (NM_000237.2) |
Asian |
1 in 189 |
1 in 571 |
67% |
|
Caucasian |
< 1 in 500 |
1 in 1560 |
68% |
French Canadian - Saguenay Lac-St. Jean |
1 in 46 |
1 in 901 |
>95% |
French Canadian - Other |
1 in 139 |
1 in 2761 |
>95% |
General population |
1 in 500 |
1 in 9981 |
>95% |
What is Lipoprotein Lipase Deficiency?
Lipoprotein Lipase Deficiency is an autosomal recessive disorder in which the body either cannot make, or makes less of, an enzyme called lipoprotein lipase. Without normal amounts of this enzyme, the body cannot break down fat from food, which causes fat to build up in the blood. Symptoms of Lipoprotein Lipase Deficiency usually begin in childhood with episodes of abdominal pain, abnormally high levels of triglycerides (a form of fat) in the blood, enlarged spleen and liver, inflammation of the pancreas, and raised areas of fat under the of skin (xanthomas). Treatment with a very low fat diet can prevent or lessen the symptoms.
What causes Lipoprotein Lipase Deficiency?
Lipoprotein Lipase Deficiency is caused by a gene change, or mutation, in both copies of the LPL gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the LPL gene do not work correctly, it leads to the symptoms described above.
Carriers for Lipoprotein Lipase Deficiency may have a moderate increase in triglyceride levels which may give them a slightly increased risk for early atherosclerosis. |
Lipoprotein Lipase Deficiency
|
LPL (NM_000237.2) |
Asian |
1 in 189 |
1 in 18801 |
99% |
|
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
French Canadian - Other |
1 in 139 |
1 in 13801 |
99% |
French Canadian - Saguenay Lac-St. Jean |
1 in 46 |
1 in 4501 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
HADHA (NM_000182.4) |
Caucasian |
1 in 254 |
1 in 25301 |
99% |
|
Finnish |
1 in 240 |
1 in 23901 |
99% |
General population |
1 in 138 |
1 in 13701 |
99% |
|
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
HADHA (NM_000182.4) |
Caucasian |
1 in 254 |
1 in 5061 |
>95% |
|
General population |
1 in 351 |
1 in 7001 |
>95% |
|
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
|
HADHA (NM_ 000182.4) |
Caucasian |
1 in 254 |
1 in 5061 |
>95% |
|
General population |
1 in 351 |
1 in 7001 |
>95% |
What is Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency?
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency is an autosomal recessive disorder in which the body cannot break down and use certain fats for energy. Signs and symptoms of LCHAD Deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy, weak muscle tone, and low blood sugar (hypoglycemia). The symptoms of LCHAD Deficiency are often triggered by going a long time without eating (fasting) or during illness. If the condition is not treated, children with LCHAD Deficiency are at risk for breathing problems, intellectual disability, enlarged heart and liver, vision loss, seizures, coma, and sudden death. Treatment includes a medical low-fat diet, avoidance of fasting, and other supplements that help prevent or lessen the symptoms. Even with careful treatment, some children still have repeated episodes of low blood sugar and other long-term health problems.
Rarely, mutations in the same gene pair cause a related disorder called Mitochondrial Trifunctional Protein Deficiency. This disorder has similar symptoms to LCHAD Deficiency with similar treatment. There is an early-onset severe form that sometimes results in death, even with treatment; a childhood-onset form that needs lifelong treatment; and a rare milder form that causes muscle breakdown leading to cramping, weakness, pain, and red-brown colored urine but does not affect intelligence.
What causes Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency?
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency is caused by a gene change, or mutation, in both copies of the HADHA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above.
Women who are carriers for LCHAD Deficiency or Mitochondrial Trifunctional Protein Deficiency and are pregnant with an affected fetus are at risk to develop serious liver disorders called AFLP (acute fatty liver of pregnancy) and HELLP Syndrome (hemolysis, elevated liver enzymes, low platelets). Signs and symptoms include pain in the abdomen, low blood sugar, ammonia in the blood, breakdown of red blood cells, and abnormal liver enzymes. |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome (Lics)
|
NSMCE3 (NM_138704.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Lysinuric Protein Intolerance
|
SLC7A7 (NM_ 001126106.2) |
Finnish |
1 in 122 |
1 in 2421 |
>95% |
|
Japanese |
1 in 119 |
1 in 2361 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Lysinuric Protein Intolerance?
Lysinuric Protein Intolerance is an autosomal recessive disorder in which certain building blocks of protein (amino acids) cannot be broken down correctly by the body. This leads to a toxic buildup of ammonia in the blood. Symptoms of Lysinuric Protein Intolerance usually first begin in infancy after the baby is weaned off breast milk or formula and starts eating solid food. Symptoms include nausea, vomiting, poor feeding and poor growth, aversion to protein-rich foods, poor muscle tone, brittle bones, enlarged liver and spleen, and lung and kidney problems. Treatment with a medical low-protein diet along with specific supplements and medications can lessen the severity of symptoms but cannot prevent them.
What causes Lysinuric Protein Intolerance?
Lysinuric Protein Intolerance is caused by a gene change, or mutation, in both copies of the SLC7A7 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Lysinuric Protein Intolerance
|
SLC7A7 (NM_001126106.2) |
Finnish |
1 in 122 |
1 in 12101 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
Japanese |
1 in 119 |
1 in 11801 |
99% |
|
Lysinuric Protein Intolerance
|
SLC7A7 (NM_001126106.2) |
Finnish |
1 in 122 |
1 in 2421 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
Japanese |
1 in 119 |
1 in 2361 |
>95% |
|
|
AP1S1 (NM_001283.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is MEDNIK Syndrome? MEDNIK (Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, and Keratoderma) Syndrome is an inherited disorder that affects many parts of the body. Symptoms of MEDNIK Syndrome include intellectual disability, severe diarrhea starting from birth (enteropathy), hearing loss, numbness and pain in the hands and feet (peripheral neuropathy) and skin problems. The skin is typically thickened and has multiple red patches (ichthyosis and keratoderma). Babies may also have severe liver disease and/or cataracts. Some babies with MEDNIK Syndrome die young due to the chronic diarrhea. There is currently no cure for MEDNIK Syndrome and treatment is based on symptoms. What causes MEDNIK Syndrome? MEDNIK Syndrome is caused by a gene change, or mutation in both copies of the AP1S1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
MKS1-Related Disorders
|
MKS1 (NM_017777.3) |
Caucasian |
1 in 260 |
1 in 5181 |
>95% |
|
Finnish |
1 in 47 |
1 in 921 |
>95% |
General population |
1 in 260 |
1 in 5181 |
>95% |
|
Malonyl-CoA Decarboxylase Deficiency
|
MLYCD (NM_012213.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Malonyl-CoA Decarboxylase Deficiency? Malonyl-CoA Decarboxylase (MCD) Deficiency (also called Malonic Acidemia) is an inherited disorder that causes the body to be unable to break down certain types of fat. Children born with MCD Deficiency are typically unable to change some of the fats from food that they eat into energy that the body needs to work properly. As a result, blood sugar can drop (hypoglycemia) and toxic substances can build up in the body. MCD Deficiency often leads to developmental delays and can cause health problems such as weak muscle tone, vomiting, diarrhea, and seizures. Cardiomyopathy, a weakening of the heart muscle weakens that can lead to congestive heart failure, is common in individuals affected with MCD Deficiency. Symptoms are often triggered when an affected child eats foods high in the fats they cannot break down, going a long time without eating (fasting), or by illness or infections. Currently there is no cure for this disorder and treatment may include a special medical diet, specific supplements, and avoiding going without food for long periods. Even with careful treatment, children can still have repeated episodes of low blood sugar and other long-term health problems. If left untreated, MCD Deficiency can lead to death in infancy. What causes Malonyl-CoA Decarboxylase Deficiency? MCD Deficiency is caused by a gene change, or mutation, in both copies of the MLYCD gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Maple Syrup Urine Disease, Type 1A
|
BCKDHA (NM_000709.3) |
Caucasian |
1 in 320 |
1 in 5318 |
94% |
|
General population |
1 in 289 |
1 in 5761 |
>95% |
Mennonite |
1 in 10 |
1 in 181 |
>95% |
Portuguese Roma |
1 in 71 |
1 in 1401 |
>95% |
|
Maple Syrup Urine Disease, Type 1A
|
BCKDHA (NM_ 000709.3) |
Caucasian |
1 in 320 |
1 in 5318 |
94% |
|
Mennonite |
1 in 10 |
1 in 181 |
>95% |
Roma - Portuguese |
1 in 71 |
1 in 1401 |
>95% |
General population |
1 in 289 |
1 in 5761 |
>95% |
What is Maple Syrup Urine Disease, Type 1A?
Maple Syrup Urine Disease, Type 1A is an autosomal recessive disorder in which the body is unable to break down certain building blocks of protein from food. Signs and symptoms usually begin in infancy and include poor feeding, vomiting, lack of energy, failure to grow at the normal rate, and developmental delay. Maple Syrup Urine Disease gets its name from the maple syrup odor of the urine in babies with the disease. Symptoms may worsen after going a long time without food or with illness and can be life-threatening. Lifelong dietary treatment is needed. If untreated, Maple Syrup Urine Disease, Type 1A can lead to intellectual disability, seizures, coma, and sometimes death. Even with treatment affected children continue to have symptoms of the disorder. Some children have a milder form of Maple Syrup Urine Disease, Type 1A with fewer symptoms.
What causes MSUD, Type 1A?
Maple Syrup Urine Disease, Type 1A is caused by a change, or mutation, in both copies of the BCKDHA gene pair. These mutations cause the genes to not work properly or not work at all. The function of the BCKDHA genes is to help breakdown certain building blocks of protein in food called amino acids. When both copies of this gene pair do not work correctly, toxic buildup of certain amino acids occurs and causes damage to the brain and other organs. |
Maple Syrup Urine Disease, Type 1A
|
BCKDHA (NM_000709.3) |
Caucasian |
1 in 320 |
1 in 31901 |
99% |
|
General population |
1 in 321 |
1 in 32001 |
99% |
Mennonite |
1 in 10 |
1 in 901 |
99% |
Portuguese Roma |
1 in 71 |
1 in 7001 |
99% |
|
Maple Syrup Urine Disease, Type 1B
|
BCKDHB (NM_183050.3) |
Ashkenazi Jewish |
1 in 97 |
1 in 9601 |
99% |
|
Asian |
1 in 163 |
1 in 16201 |
99% |
Caucasian |
1 in 433 |
1 in 43201 |
99% |
General population |
1 in 364 |
1 in 36301 |
99% |
|
Maple Syrup Urine Disease, Type 1B
|
BCKDHB (NM_000056.3) |
Ashkenazi Jewish |
1 in 97 |
1 in 1921 |
>95% |
|
Asian |
1 in 163 |
1 in 3241 |
>95% |
Caucasian |
1 in 433 |
1 in 8641 |
>95% |
General population |
1 in 327 |
1 in 6521 |
>95% |
|
Maple Syrup Urine Disease, Type 1B
|
BCKDHB (NM_ 000056.3) |
Ashkenazi Jewish |
1 in 97 |
1 in 1921 |
>95% |
|
Asian |
1 in 163 |
1 in 3241 |
>95% |
Caucasian |
1 in 433 |
1 in 8641 |
>95% |
General population |
1 in 327 |
1 in 6521 |
>95% |
What is Maple Syrup Urine Disease, Type 1B?
Maple Syrup Urine Disease, Type 1B is an autosomal recessive disorder in which the body is not able to break down certain building blocks of protein (amino acids) from food. Signs and symptoms usually begin in infancy and include poor feeding, vomiting, lack of energy, failure to grow at the normal rate, and developmental delay. Maple Syrup Urine Disease gets its name from the maple syrup odor of the urine in babies with the disease. Symptoms may worsen after going a long time without food or with illness and can be life-threatening. Lifelong dietary and medical treatment is needed. If untreated, Maple Syrup Urine Disease, Type 1B can lead to intellectual disability, seizures, coma, and sometimes death. Even with treatment some children continue to have symptoms of the disorder. Some children have a milder form of Maple Syrup Urine Disease, Type 1B with fewer symptoms.
What causes Maple Syrup Urine Disease, Type 1B?
Maple Syrup Urine Disease, Type 1B is caused by a gene change, or mutation, in both copies of the BCKDHB gene pair. These mutations cause the genes to not work properly or not work at all. The function of the BCKDHB genes is to help breakdown certain building blocks of protein in food called amino acids. When both copies of this gene pair do not work correctly, toxic buildup of certain amino acids occurs and causes damage to the brain and other organs. |
Maple Syrup Urine Disease, Type 2
|
DBT (NM_001918.3) |
General population |
1 in 321 |
1 in 32001 |
99% |
|
What is Maple Syrup Urine Disease, Type 2? Maple Syrup Urine Disease, Type 2 (also known as MSUD, Type 2, or MSUD2) is an inherited disorder in which the body is unable to break down certain building blocks of protein, called amino acids, from food. MSUD gets its name from the maple syrup odor of the urine in babies with the disease. Signs and symptoms usually begin in infancy and include poor feeding, vomiting, lack of energy, failure to grow at the normal rate, and developmental delay. Symptoms may worsen after going a long time without food or with illness and can be life-threatening. Lifelong dietary treatment is needed. If untreated, MSUD, Type 2 can lead to intellectual disability, seizures, coma, and sometimes death. Even with treatment, affected children may still have some symptoms of MSUD, Type 2. Some children have a milder form of MSUD Type 2 with fewer symptoms. What causes MSUD, Type 2? MSUD, Type 2 is caused by a change, or mutation, in both copies of the DBT gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the DBT genes is to help breakdown certain amino acids in food. When both copies of the gene do not work correctly toxic buildup of specific amino acids occurs, causing damage to the brain and other organs. |
McKusick-Kaufman Syndrome
|
MKKS (NM_018848.3) |
General population |
1 in 219 |
1 in 21801 |
99% |
|
What is McKusick-Kaufman Syndrome? McKusick-Kaufman Syndrome is an inherited disorder which causes extra fingers and toes (polydactyly), heart defects, and genital abnormalities, all of which are present at birth. Affected females may be born with a blockage of the vagina which leads to a buildup of fluid in the vagina and uterus (hydrometrocolpos). Affected males may have genital abnormalities that include hypospadias (the opening of the urethra is on the underside of the penis instead of the end), and undescended testicles. Although no formal studies have been done, lifespan is not thought to be shortened in individuals with McKusick-Kaufman Syndrome. Currently there is no cure for this disorder and treatment and surgeries are based on symptoms. Sometimes, mutations in the same gene cause a related disorder called Bardet-Biedl Syndrome 6 (BBS6). Signs and symptoms of BBS6 include mild to severe intellectual disability, behavior problems, kidney defects, genital abnormalities in males, progressive vision loss, obesity, and polydactyly. Some children with BBS6 also have heart, liver, and bowel problems as well. The information below is about McKusick-Kaufman Syndrome, the more common disorder, but it also applies to BBS6 which is inherited in the same manner and has the same reproductive options. What causes McKusick-Kaufman Syndrome? McKusick-Kaufman Syndrome is caused by a gene change, or mutation, in both copies of the MKKS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the MKKS gene pair do not work properly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a particular mutation in the MKKS gene will cause McKusick-Kaufman Syndrome or BBS6. |
Meckel Syndrome 7 / Nephronophthisis 3
|
NPHP3 (NM_153240.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Meckel Syndrome 7/ Nephronophthisis 3? Meckel Syndrome 7 and Nephronophthisis 3 are related inherited disorders. Nephronophthisis 3 causes kidney problems that get worse over time. Symptoms can start in before birth, in infancy, childhood or the teen years. Kidney failure usually occurs before age 3 in the infantile form, by age 13 in the childhood form, and before age 30 in the adolescent form. Once kidney failure occurs, dialysis, and then kidney transplantation is needed. Meckel Syndrome 7 is less common and is associated with birth defects in many parts of the body, including the kidneys. Affected infants have an encephalocele (bulging of part of the brain through an opening in the back of the skull), small head with sloping forehead, abnormal kidneys with many cysts (fluid-filled sacs), and liver abnormalities. Affected babies may also have other birth defects including cleft lip and/or cleft palate, underdeveloped eyes, extra fingers and toes, and underdeveloped or abnormal genitals. There is no cure for Meckel Syndrome 7 and most babies die shortly after birth due to the severity of the health problems associated with this disorder. Some babies instead have a related disorder called Renal-Hepatic-Pancreatic Dysplasia-1 (RHPD1). Babies with RHPD1 do not have brain abnormalities but otherwise have signs and symptoms which are similar to Meckel Syndrome 7. Babies with RHPD1 also have abnormalities of the liver and pancreas and sometimes heart, spleen, and other internal organs, and most die in infancy. What causes Meckel Syndrome 7/Nephronophthisis 3? Meckel Syndrome 7 and Nephronophthisis 3 are caused by a gene change, or mutation, in both copies of the NPHP3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the NPHP3 gene do not work correctly, it leads to the symptoms of one of the two conditions described above. It is sometimes, but not always, possible to tell whether a specific mutation in the NPHP3 gene will cause Meckel Syndrome 7 or Nephronophthisis 3. |
Meckel-Gruber Syndrome, Type 1
|
MKS1 (NM_ 017777.3) |
Caucasian |
1 in 260 |
1 in 5181 |
>95% |
|
Finnish |
1 in 47 |
1 in 921 |
>95% |
General population |
1 in 260 |
1 in 5181 |
>95% |
What is Meckel-Gruber Syndrome, Type 1?
Meckel-Gruber Syndrome, Type 1 (also called Meckel Syndrome, Type 1) is an autosomal recessive disorder that causes birth defects in many parts of the body. Affected infants have an encephalocele (bulging of part of the brain through an opening in the back of the skull), small head with sloping forehead, abnormal kidneys with many cysts (fluid-filled sacs), and extra fingers and toes. Affected babies may also have other birth defects including cleft lip and/or cleft palate, underdeveloped eyes, liver abnormalities, and underdeveloped or abnormal genitals. There is no cure for Meckel-Gruber Syndrome, Type 1 and most babies die shortly after birth due to the severity of the health problems associated with this disorder.
Rarely, mutations in the same gene pair cause one of two related disorders, either Bardet-Biedl Syndrome 13, or, even less often, Joubert Syndrome 28.
What causes Meckel-Gruber Syndrome, Type 1?
Meckel-Gruber Syndrome, Type 1 is caused by a gene change, or mutation, in both copies of the MKS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the MKS1 gene pair do not work correctly, it leads to the symptoms described above. |
Meckel-Gruber Syndrome, Type 1
|
MKS1 (NM_017777.3) |
Caucasian |
1 in 260 |
1 in 25901 |
99% |
|
Finnish |
1 in 47 |
1 in 4601 |
99% |
General population |
1 in 260 |
1 in 25901 |
99% |
|
Mecp2-Related Conditions
|
MECP2 (NM_004992.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Mecr-Related Neurologic Disorder
|
MECR (NM_016011.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Medium Chain Acyl-CoA Dehydrogenase Deficiency
|
ACADM (NM_000016.5) |
Asian |
1 in 178 |
1 in 17701 |
99% |
|
Caucasian |
1 in 64 |
1 in 6301 |
99% |
General population |
1 in 35 |
1 in 3401 |
99% |
|
Medium Chain Acyl-CoA Dehydrogenase Deficiency
|
ACADM (NM_ 000016.5) |
Asian |
1 in 178 |
1 in 1042 |
83% |
|
Caucasian |
1 in 55 |
1 in 772 |
93% |
General population |
1 in 69 |
1 in 1361 |
>95% |
What is Medium Chain Acyl-CoA Dehydrogenase Deficiency?
Medium Chain Acyl-CoA Dehydrogenase Deficiency is an autosomal recessive disorder that causes the body to be unable to break down certain types of fat. It is one of a group of inherited conditions called fatty acid oxidation disorders. Children born with Medium Chain Acyl-CoA Dehydrogenase Deficiency are unable to change some of the fats from food that they eat into energy that the body needs to function properly. As a result, fatty acids build up in the body. If left untreated, this disorder can lead to health problems such as seizures, breathing problems, liver problems, brain damage, coma, and even death. With diagnosis and treatment early in life, people with Medium Chain Acyl-CoA Dehydrogenase Deficiency can often lead healthy lives. Some people with Medium Chain Acyl-CoA Dehydrogenase Deficiency have milder symptoms or no symptoms at all.
What causes Medium Chain Acyl-CoA Dehydrogenase Deficiency?
Medium Chain Acyl-CoA Dehydrogenase Deficiency is caused by a gene change, or mutation in both copies of the ACADM gene pair. These mutations cause the genes to not work properly or not work at all. The function of the ACADM genes is to make an enzyme called medium-chain acyl-CoA dehydrogenase, which is needed to break down a type of fat, called medium-chain fatty acids, found in food and the body’s fat stores. When both copies of this gene do not work correctly, it can lead to the symptoms described above. |
Medium Chain Acyl-CoA Dehydrogenase Deficiency
|
ACADM (NM_000016.5) |
Asian |
1 in 178 |
1 in 1042 |
83% |
|
Caucasian |
1 in 55 |
1 in 772 |
93% |
General population |
1 in 69 |
1 in 1361 |
>95% |
|
Megalencephalic Leukoencephalopathy with Subcortical Cysts
|
MLC1 (NM_015166.3) |
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
Libyan Jewish |
1 in 40 |
1 in 781 |
>95% |
|
Megalencephalic Leukoencephalopathy with Subcortical Cysts
|
MLC1 (NM_015166.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Libyan Jewish |
1 in 40 |
1 in 3901 |
99% |
|
Megalencephalic Leukoencephalopathy with Subcortical Cysts
|
MLC1 (NM_ 015166.3) |
Sephardic Jewish - Libyan |
1 in 40 |
1 in 781 |
>95% |
|
General population |
<1 in 500 |
1 in 9981 |
>95% |
What is Megalencephalic Leukoencephalopathy with Subcortical Cysts?
Megalencephalic Leukoencephalopathy with Subcortical Cysts is an autosomal recessive disorder that affects the brain and nervous system. Signs and symptoms begin in infancy or childhood and include large head and brain size, developmental delays, loss of developmental skills, problems with coordination and movement, muscle stiffness, seizures, speech problems, and mild to moderate intellectual disability. Some people with this condition can walk without assistance and others eventually need a wheelchair. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Megalencephalic Leukoencephalopathy with Subcortical Cysts?
Megalencephalic Leukoencephalopathy with Subcortical Cysts is caused by a gene change, or mutation, in both copies of the MLC1 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the MLC1 genes is important for development of the brain and nerves. When both copies of the MLC1 gene do not work correctly, it leads to the symptoms described above. |
|
ATP7A (NM_000052.6) |
General population |
< 1 in 500 |
1 in 3839 |
87% |
|
What is Menkes Syndrome?
Menkes Syndrome is a severe X-linked inherited disorder that affects mainly boys. Signs and symptoms often start in infancy and include sparse light-colored and kinky hair, lax skin, growth delays, poor muscle tone (hypotonia), bladder infections, seizures, developmental delay, intellectual disability, breathing problems, and strokes. Currently there is no cure for Menkes Syndrome. Treatment with copper supplements can help lessen the symptoms in some children with Menkes; however, even with careful treatment, many children do not live beyond 3 years of age.
Rare individuals have a milder form of Menkes Syndrome sometimes called Occipital Horn Syndrome or X-Linked Cutis Laxa. Signs and symptoms of Occipital Horn Syndrome usually begin in childhood and include calcified wedges near the back of the head (occipital horns), lax skin, flexible joints, hernias, twisted blood vessels, and chronic diarrhea. Some people with Occipital Horn Syndrome have mild intellectual disability. Lifespan may be shortened but most people live until adulthood. Even more rarely, a different form of the disorder, called ATP7A-Related Distal Motor Neuropathy (or Spinal Muscular Atrophy, Distal, X-Linked 3), may occur. Symptoms of Distal Motor Neuropathy usually begin in adulthood but may appear earlier in childhood and include worsening muscle weakness and wasting (atrophy) of the hands and feet, difficulty walking, lack of reflexes in the ankles, and lack of sensation in the fingers and toes. Other symptoms may include hammer toes, curled fingers, and an abnormally high arch of the foot (pes cavus).
What causes Menkes Syndrome?
Menkes Syndrome is caused by a change, or mutation, in the ATP7A gene, which causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to Menkes Syndrome or one of the rare related disorders described above. |
Menkes Syndrome
|
ATP7A (NM_000052.6) |
General population |
1 in 75000 |
1 in 7499901 |
99% |
|
|
Merosin-Deficient Muscular Dystrophy
|
LAMA2 (NM_000426.3) |
General population |
1 in 87 |
1 in 8601 |
99% |
|
What is Merosin-Deficient Muscular Dystrophy? Merosin-Deficient Muscular Dystrophy (also called LAMA2-Related Muscular Dystrophy) affects the skeletal muscles (muscles used for movement). Merosin-Deficient Muscular Dystrophy can be early-onset or late-onset. Early-onset Merosin-Deficient Muscular Dystrophy has symptoms that start between birth and early infancy and include poor muscle tone (hypotonia), lessened movement, and joint abnormalities called contractures. Some babies have problems feeding, breathing, and gaining weight. Some children with this condition develop curvature of the spine (scoliosis), some have seizures or heart problems, and many are not able to walk. Intelligence is usually normal. Late-onset Merosin-Deficiency Muscular Dystrophy has symptoms that start anywhere from childhood to early adulthood and include weakness and breakdown (atrophy) of the pelvic, hip, thigh, shoulder, and upper arm muscles. Muscle weakness leads to difficulty in walking, running, and getting up from the floor. The muscle weakness usually worsens very slowly with age. Some people with the late-onset form develop joint contractures, scoliosis, heart problems, and/or breathing problems. Currently, there is no cure for either form of this condition and treatment is based on symptoms. What causes Merosin-Deficient Muscular Dystrophy? Merosin-Deficient Muscular Dystrophy is caused by a gene change, or mutation, in both copies of the LAMA2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene are not working correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a given mutation in the LAMA2 gene will cause the early- or late-onset form of Merosin-Deficient Muscular Dystrophy. |
Metabolic Encephalopathy and Arrhythmias, TANGO2-Related
|
TANGO2 (NM_152906.6) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Metabolic Encephalopathy and Arrhythmias, TANGO2-Related? Metabolic Encephalopathy and Arrhythmias, TANGO2-Related (also called Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration [MECRCN]) is an inherited disorder that causes metabolic crises and affects the nervous system, brain, and heart. Metabolic crises are episodes of low blood sugar (hypoglycemia) and high blood levels of ammonia and lactic acid, which cause inflammation and loss of brain tissue (encephalopathy and atrophy), breakdown of muscle tissue, and weak muscle tone (hypotonia). Other symptoms include seizures, developmental delays, muscle weakness, poor coordination and balance, and loss of skills and language over time. Heart rate abnormalities (arrhythmia) are common and can be life-threatening. Currently there is no cure for Metabolic Encephalopathy and Arrhythmias, TANGO2-Related and treatment is based on symptoms. What causes Metabolic Encephalopathy and Arrhythmias, TANGO2-Related? Metabolic Encephalopathy and Arrhythmias, TANGO2-Related is caused by changes, or mutations, in both copies of the TANGO2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the TANGO2 gene are not working correctly it leads to the symptoms described above. |
Metachromatic Leukodystrophy, ARSA-Related
|
ARSA (NM_000487.5) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
1 in 100 |
1 in 9901 |
99% |
Navajo |
1 in 25 |
1 in 2401 |
99% |
Sephardic Jewish - Yemenite |
1 in 46 |
1 in 4501 |
99% |
|
Metachromatic Leukodystrophy, ARSA-Related
|
ARSA (NM_000487.5) |
Ashkenazi Jewish |
<1 in 500 |
1 in 9981 |
>95% |
|
General population |
1 in 100 |
1 in 1981 |
>95% |
Navajo |
1 in 25 |
1 in 481 |
>95% |
Sephardic Jewish - Yemenite |
1 in 46 |
1 in 901 |
>95% |
|
Metachromatic Leukodystrophy, ARSA-Related
|
ARSA (NM_ 000487.5) |
Ashkenazi Jewish |
<1 in 500 |
1 in 9981 |
>95% |
|
Navajo Native American |
1 in 25 |
1 in 481 |
>95% |
Sephardic Jewish - Yemenite |
1 in 46 |
1 in 901 |
>95% |
General population |
1 in 100 |
1 in 1981 |
>95% |
What is Metachromatic Leukodystrophy, ARSA-Related?
Metachromatic Leukodystrophy (MLD), ARSA-Related is an autosomal recessive disorder that affects the brain and nervous system. MLD, ARSA-Related causes a buildup of a specific type of fat in the cells of the body. This causes myelin, the substance that covers and protects nerves, to break down over time. Without myelin, brain and nerve cells no longer work properly. There are 3 forms of MLD, ARSA-Related: the late infantile form usually shows symptoms by age 2; the juvenile form starts in childhood or early adolescence; and the adult form starts in young adulthood. Symptoms of MLD, ARSA-Related include loss of cognitive and motor skills, behavior and personality changes, seizures, dementia, and loss of hearing, vision, and speech, all of which worsen over time. The condition eventually leads to paralysis and loss of responsiveness. Lifespan is shortened, especially with the early-onset forms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Metachromatic Leukodystrophy, ARSA-Related?
MLD, ARSA-Related is caused by a gene change, or mutation, in both copies of the ARSA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Metachromatic Leukodystrophy, PSAP-Related
|
PSAP (NM_ 002778.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Metachromatic Leukodystrophy, PSAP-Related?
Metachromatic Leukodystrophy, PSAP-Related is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms usually begin in childhood. Symptoms include anemia, easy bruising, fatigue, bone problems including bone pain and breaks, enlarged liver and spleen, and lung disease. Some children will also have symptoms involving the brain and nervous system including seizures, developmental delays, intellectual disability, abnormal eye movements, and problems with coordination and movement. The symptoms may worsen over time. In rare cases, symptoms do not begin until adolescence or adulthood. In some cases, individuals with Metachromatic Dystrophy, PSAP-Related have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Very rarely, mutations in the same gene cause a related disorder, either Gaucher Disease, atypical, Krabbe Disease, atypical, or Combined SAP Deficiency. Symptoms of these disorders include a severely enlarged liver and spleen along with brain and nervous system problems that are similar to or more severe than those described above. Babies with either Krabbe Disease, atypical or Combined SAP Deficiency have very severe symptoms starting from birth and usually die in infancy or early childhood. People with Gaucher Disease, atypical may start having symptoms in childhood or not until early adulthood.
What causes Metachromatic Leukodystrophy, PSAP-Related?
Metachromatic Leukodystrophy, PSAP-Related is caused by a gene change, or mutation, in both copies of the PSAP gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the PSAP gene do not work correctly, it leads to the symptoms described above. |
Metachromatic Leukodystrophy, PSAP-Related
|
PSAP (NM_002778.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Metachromatic Leukodystrophy, PSAP-Related
|
PSAP (NM_002778.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Methylmalonic Acidemia And Homocystinuria Type Cblf
|
LMBRD1 (NM_018368.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Methylmalonic Acidemia And Homocystinuria Type Cblx
|
HCFC1 (NM_005334.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Methylmalonic Acidemia, Mcee-Related
|
MCEE (NM_032601.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Methylmalonic Acidura, MUT-Related
|
MUT (NM_000255.3) |
African American |
1 in 177 |
1 in 3521 |
>95% |
|
Asian |
1 in 53 |
1 in 1041 |
>95% |
Caucasian |
1 in 224 |
1 in 4461 |
>95% |
General population |
1 in 383 |
1 in 7641 |
>95% |
Hispanic |
1 in 383 |
1 in 7641 |
>95% |
|
Methylmalonic Aciduria and Homocystinuria, Type cblC
|
MMACHC (NM_015506.3) |
Asian |
1 in 113 |
1 in 2241 |
>95% |
|
Caucasian |
1 in 138 |
1 in 2741 |
>95% |
General population |
1 in 138 |
1 in 2741 |
>95% |
What is Methylmalonic Aciduria and Homocystinuria, Type cblC?
Methylmalonic Aciduria refers to a group of autosomal recessive conditions with many different forms, each of which has different causes and treatments. The type described here is Methylmalonic Aciduria and Homocystinuria, Type cblC. In this disorder the body is not able to use vitamin B12 (cobalamin) correctly to break down certain types of fat and protein from food. Symptoms of Methylmalonic Aciduria and Homocystinuria, Type cblC usually begin in the first month of life and can include growth delay, small head size, skin rash, vomiting, feeding problems, fever, lethargy (extreme tiredness), weak muscle tone (hypotonia), and vision loss due to damage to the retina. Lifelong dietary and medical treatments are needed for this disorder. If left untreated, death in infancy or childhood may occur. Some people with this disorder have a milder form with onset in adulthood.
What causes Methylmalonic Aciduria and Homocystinuria, Type cblC?
Methylmalonic Aciduria and Homocystinuria, Type cblC is caused by a gene change, or mutation in both copies of the MMACHC gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, the body cannot use Vitamin B12 properly to break down certain fats and proteins in the diet. This causes a toxic buildup of the amino acids methylmalonic acid and homocysteine the body, which causes the symptoms described above. |
Methylmalonic Aciduria and Homocystinuria, Type cblC
|
MMACHC (NM_015506.2) |
Asian |
1 in 113 |
1 in 11201 |
99% |
|
Caucasian |
1 in 138 |
1 in 13701 |
99% |
General population |
1 in 138 |
1 in 13701 |
99% |
|
Methylmalonic Aciduria and Homocystinuria, Type cblD
|
MMADHC (NM_015702.2) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Methylmalonic Aciduria and Homocystinuria, Type cblD
|
MMADHC (NM_ 015702.2) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9900 |
>95% |
What is Methylmalonic Aciduria and Homocystinuria, Type cblD?
Methylmalonic Aciduria refers to a group of autosomal recessive conditions with many different forms, each of which has different causes and treatments. The type described here is Methylmalonic Aciduria and Homocystinuria, Type cblD. In this disorder, the body cannot use vitamin B12 (cobalamin) correctly to break down certain types of fat and protein from food. This causes the buildup of toxic substances in the blood and can lead to serious health problems. Symptoms include small head size, poor appetite and growth, lack of energy, low muscle tone (hypotonia), eye abnormalities, developmental delay, anemia, neurological problems, seizures, and intellectual deficit. Symptoms vary and can begin before birth or not until adulthood. In most cases, symptoms start in infancy and often become worse after going a long time without food or during illness. Some children have symptoms of either Homocystinuria or Methylmalonic Acidemia but not both. For some children, medical treatment including vitamin B12 injections, other supplements, and a special diet may help reduce the severity of this disorder.
What causes Methylmalonic Aciduria and Homocystinuria, Type cblD?
Methylmalonic Aciduria and Homocystinuria, Type cblD is caused by a change, or mutation, in both copies of the MMADHC gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, the body cannot use Vitamin B12 properly to break down certain fats and proteins in the diet. This causes a toxic buildup of the amino acids methylmalonic acid and/or homocysteine the body, which causes the symptoms described above. |
Methylmalonic Aciduria, MMAA-Related
|
MMAA (NM_ 172250.2) |
Caucasian |
1 in 316 |
1 in 6301 |
>95% |
|
General population |
1 in 316 |
1 in 6301 |
>95% |
What is Methylmalonic Aciduria, MMAA-Related?
Methylmalonic Aciduria refers to a group of autosomal recessive disorders in which the body cannot break down certain proteins and fats from food. This leads to the lack of energy for the body and a buildup of toxic substances in the blood. There are many forms of this Methylmalonic Aciduria, each caused by mutations in a different gene, one of which is MMAA. Symptoms of Methylmalonic Aciduria, MMAA-Related usually start in infancy or childhood and often include episodes of feeding and breathing problems, vomiting, weak muscle tone, and lack of energy. Episodes often start during illness or stress, going a long time without food, or eating too much protein. If these episodes are not treated, they can lead to seizures, stroke, or coma and can sometimes be life-threatening. Children with this condition may also have slow weight gain and growth, and developmental delay. Methylmalonic Aciduria, MMAA-Related is sometimes referred to as ‘vitamin B12 responsive’, meaning that it can often be treated with vitamin B12 injections. Vitamin B12, along with a special diet and other medical treatments, can help prevent further symptoms but cannot correct any problems that have already occurred.
What causes Methylmalonic Aciduria, MMAA-Related?
Methylmalonic Aciduria, MMAA-Related is caused by a change, or mutation, in both copies of the MMAA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Methylmalonic Aciduria, MMAA-Related
|
MMAA (NM_172250.2) |
Caucasian |
1 in 316 |
1 in 6301 |
>95% |
|
General population |
1 in 316 |
1 in 6301 |
>95% |
|
Methylmalonic Aciduria, MMAA-Related
|
MMAA (NM_172250.2) |
Caucasian |
1 in 316 |
1 in 31501 |
99% |
|
General population |
1 in 316 |
1 in 31501 |
99% |
|
Methylmalonic Aciduria, MMAB-Related
|
MMAB (NM_052845.3) |
Caucasian |
1 in 456 |
1 in 45501 |
99% |
|
General population |
1 in 456 |
1 in 45501 |
99% |
|
Methylmalonic Aciduria, MMAB-Related
|
MMAB (NM_ 052845.3) |
Caucasian |
1 in 456 |
1 in 9101 |
>95% |
|
General population |
1 in 456 |
1 in 9101 |
>95% |
What is Methylmalonic Aciduria, MMAB-Related?
Methylmalonic Aciduria refers to a group of autosomal recessive disorders in which the body cannot break down certain proteins and fats from food. This leads to the lack of energy for the body and a buildup of toxic substances in the blood. There are many forms of this disorder, each caused by mutations in a different gene, one of which is MMAB. Symptoms of Methylmalonic Aciduria, MMAB-Related usually start in infancy or childhood and may include episodes of breathing problems, feeding problems and vomiting, weak muscle tone, and lack of energy. Episodes often start during illness or stress, going a long time without food, or eating too much protein. If these episodes are not treated, they can lead to seizures, stroke, or coma and can sometimes be life-threatening. Children with this condition may also have slow weight gain and growth, and developmental delay. Methylmalonic Aciduria, MMAB-Related is sometimes referred to as ‘vitamin B12 responsive’, meaning that it can sometimes be treated with vitamin B12 injections. Vitamin B12, along with a special diet and other medical treatments, may help prevent further symptoms in some children but cannot correct any problems that have already occurred.
What causes Methylmalonic Aciduria, MMAB-Related?
Methylmalonic Aciduria, MMAB-Related is caused by a change, or mutation, in both copies of the MMAB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Methylmalonic Aciduria, MMAB-Related
|
MMAB (NM_052845.3) |
Caucasian |
1 in 456 |
1 in 9101 |
>95% |
|
General population |
1 in 456 |
1 in 9101 |
>95% |
|
Methylmalonic Aciduria, Type cblC
|
MMACHC (NM_015506.2) |
Asian |
1 in 113 |
1 in 2241 |
>95% |
|
Caucasian |
1 in 138 |
1 in 2741 |
>95% |
General population |
1 in 138 |
1 in 2741 |
>95% |
|
Methylmalonic Aciduria, Type cblD
|
MMADHC (NM_015702.2) |
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Methylmalonic Aciduria, Type mut(0)
|
MMUT aka MUT (NM_000255.3) |
African American |
1 in 177 |
1 in 17601 |
99% |
|
Asian |
1 in 53 |
1 in 5201 |
99% |
Caucasian |
1 in 224 |
1 in 22301 |
99% |
General population |
1 in 383 |
1 in 38201 |
99% |
Hispanic |
1 in 383 |
1 in 38201 |
99% |
|
Methylmalonic Aciduria, Type mut(0)
|
MUT (NM_ 000255.3) |
African American |
1 in 177 |
1 in 3521 |
>95% |
|
Asian |
1 in 53 |
1 in 1041 |
>95% |
Caucasian |
1 in 224 |
1 in 4461 |
>95% |
Hispanic |
1 in 383 |
1 in 7641 |
>95% |
General population |
1 in 383 |
1 in 7641 |
>95% |
What is Methylmalonic Aciduria, Type mut(0)?
Methylmalonic Aciduria refers to a group of autosomal recessive disorders in which the body cannot break down certain proteins and fats from food. This leads to the lack of energy for the body and a buildup of toxic substances in the blood. There are many forms of this disorder, each caused by mutations in a different gene, one of which is MUT. Methylmalonic Aciduria, Type mut(0), is the most common and severe form with symptoms usually first starting in infancy. Infants quickly start to show symptoms of vomiting, dehydration, breathing problems, and lack of energy. Other symptoms that develop over time include enlarged liver, weak muscle tone, feeding problems, intellectual disability, kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, Methylmalonic Aciduria, Type mut(0) can be life-threatening. Treatment can sometimes reduce the severity of symptoms, but there is no cure for this disorder.
What causes Methylmalonic Aciduria, Type mut(0)?
Methylmalonic Aciduria, Type mut(0) is caused by a change, or mutation, in both copies of the MUT gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the MUT gene do not work correctly, it leads to the symptoms described above. |
Mevalonic Kinase Deficiency
|
MVK (NM_000431.3) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is mevalonic kinase deficiency? Mevalonic kinase deficiency is an inherited condition that causes episodes of fever and inflammation. There are two forms of mevalonic kinase deficiency. The more severe type is called mevalonic aciduria (MA). Symptoms common to MA include developmental delay, seizures, movement and coordination problems (ataxia), feeding and growth problems, and progressive vision problems due to inflammation (uveitis), cataracts, or retinal problems (retinitis pigmentosa). Children with MA have recurrent episodes of fever starting in infancy that include enlarged lymph nodes, abdominal pain, diarrhea, enlarged liver and spleen, and skin rashes. Adults with MA may have short stature and muscle weakness (myopathy). The milder form, hyper-IgD syndrome (HIDS), causes episodes of fever that may be triggered by illness, vaccinations, surgery, injury, or stress. Symptoms of these episodes include fever, enlarged lymph nodes, pain in the abdomen and joints, diarrhea, skin rashes, and headaches. Some people get painful sores around the mouth and vagina. A small number of people with HIDS have amyloidosis (buildup of protein) in the kidneys that leads to kidney problems. Most people with HIDS have no symptoms between fever episodes and lifespan is normal. What causes mevalonic kinase deficiency? Mevalonic kinase deficiency is usually caused by a change, or mutation, in both copies of the MVK gene. These mutations cause the genes to not work properly or not work at all. When both copies of the MVK gene are not working it results in the symptoms described above. It is sometimes, but not always, possible to determine whether a given mutation in the MVK gene will cause MA or HIDS. |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
|
PCNT (NM_006031.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Microphthalmia/Anophthalmia
|
VSX2 (NM_182894.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Iranian, Syrian |
1 in 145 |
1 in 2881 |
>95% |
|
Microphthalmia/Anophthalmia, VSX2-Related
|
VSX2 (NM_ 182894.2) |
Sephardic Jewish - Iranian, Syrian |
1 in 145 |
1 in 2881 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Microphthalmia/Anophthalmia, VSX2-Related?
Microphthalmia/Anophthalmia, VSX2-Related is an autosomal recessive disorder that causes specific birth defects of the eyes. Microphthalmia is when one or both eyes are smaller than average at birth and vision is impaired. Anophthalmia is when one or both eyes are absent at birth and there is no vision. An infant can be born with microphthalmia in one eye and anophthalmia in the other eye, the same type of birth defect in both eyes, or have just one affected eye. Children with this disorder may also have other abnormalities of the eye including cataracts, cysts, abnormalities of the cornea, and colobomas (a birth defect in the lens, iris, or retina).
What causes Microphthalmia/Anophthalmia, VSX2-Related?
Microphthalmia/Anophthalmia, VSX2-Related is caused by a change, or mutation, in both copies of the VSX2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Microphthalmia/Anophthalmia, VSX2-Related
|
VSX2 (NM_182894.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Iranian, Syrian |
1 in 145 |
1 in 14401 |
99% |
|
Mitochondrial Complex 1 Deficiency, ACAD9-Related
|
ACAD9 (NM_014049.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Mitochondrial Complex 1 Deficiency, ACAD9-Related
|
ACAD9(NM014049.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Mitochondrial Complex 1 Deficiency, ACAD9-Related?
Mitochondrial Complex 1 Deficiency, ACAD9-Related (also called Acyl-Coenzyme Dehydrogenase 9 Deficiency or Riboflavin-Responsive Complex 1 Deficiency) is an inherited disorder that causes repeated episodes of metabolic acidosis, a condition in which the blood becomes very acidic. Signs and symptoms vary from person to person but often start in infancy and include bouts of metabolic acidosis that can lead to swelling of the brain, vomiting, seizures, coma, and sometimes death. Children with the severe form of this condition who survive may have ongoing heart problems, liver failure, muscle weakness, and coordination problems. Some children have less severe symptoms that start later in childhood and include a general lack of energy and extreme tiredness after exercise. Although there is no cure for this condition, treatment with high doses of Vitamin B2 (Riboflavin) may be helpful in preventing or reducing some of the symptoms.
What causes Mitochondrial Complex 1 Deficiency, ACAD9-Related?
Mitochondrial Complex 1 Deficiency, ACAD9-Related is caused by a gene change, or mutation, in both copies of the ACAD9 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related
|
NDUFAF5 (NM_ 024120.4) |
Ashkenazi Jewish |
1 in 290 |
1 in 5781 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Mitochondrial Complex 1 Deficiency, NDUFAF5-Related?
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related is an autosomal recessive disorder that causes abnormal function of the mitochondria, the energy-producing structures found in the cells of the body. Symptoms can start in infancy, childhood, or not until later in adulthood. Common symptoms include larger than normal head size, progressive loss of the white matter of the brain, delayed development, seizures, enlarged heart, vision loss, liver disease, kidney disease, muscle disease, and abnormal movements. Infants who show symptoms early in life usually have more severe disease and may have a shortened lifespan.
What causes Mitochondrial Complex 1 Deficiency, NDUFAF5-Related?
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related is caused by a change, or mutation, in both copies of the NDUFAF5 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related
|
NDUFAF5 (NM_024120.4) |
Ashkenazi Jewish |
1 in 290 |
1 in 5781 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related
|
NDUFAF5 (NM_024120.4) |
Ashkenazi Jewish |
1 in 290 |
1 in 28901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Mitochondrial Complex 1 Deficiency, NDUFS6-Related
|
NDUFS6 (NM_004553.4) |
Caucasus Jewish |
1 in 24 |
1 in 2301 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Mitochondrial Complex 1 Deficiency, NDUFS6-Related
|
NDUFS6 (NM_ 004553.4) |
Caucasus Jewish |
1 in 24 |
1 in 461 |
>95% |
|
General population |
< 1 in 500 |
1 in 7130 |
93% |
What is Mitochondrial Complex 1 Deficiency, NDUFS6-Related?
Mitochondrial Complex 1 Deficiency, NDUFS6-Related is an autosomal recessive disorder that causes abnormal function of the mitochondria, the energy-producing structures found in the cells of the body. Symptoms can start in infancy, childhood, or not until later in adulthood. Common symptoms include larger than normal head size, progressive loss of the white matter of the brain, seizures, enlarged heart, vision loss, liver disease, kidney disease, muscle disease, and abnormal movements. Infants who show symptoms early in life usually have more severe disease and may have a shortened lifespan.
What causes Mitochondrial Complex 1 Deficiency, NDUFS6-Related?
Mitochondrial Complex 1 Deficiency, NDUFS6-Related is caused by a change, or mutation, in both copies of the NDUFS6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Mitochondrial Complex 1 Deficiency, NDUFS6-Related
|
NDUFS6 (NM_004553.4) |
Caucasus Jewish |
1 in 24 |
1 in 461 |
>95% |
|
General population |
< 1 in 500 |
1 in 7130 |
93% |
|
Mitochondrial Complex I Deficiency, Nuclear Type 10
|
NDUFAF2 (NM_174889.4) |
General population |
1 in 387 |
1 in 38600 |
99% |
|
|
Mitochondrial Complex I Deficiency, Nuclear Type 17
|
NDUFAF6 (NM_152416.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Mitochondrial Complex I Deficiency, Nuclear Type 17? Mitochondrial Complex I Deficiency, Nuclear Type 17 is an inherited disorder that causes abnormal function of the mitochondria, the energy-producing structures found in the cells of the body. Symptoms can start in infancy, childhood, or not until later in adulthood. Common symptoms include larger than normal head size, progressive loss of the white matter of the brain, seizures, enlarged heart, vision loss, liver disease, kidney disease, muscle disease, and abnormal movements. Infants who show symptoms early in life usually have more severe disease and may have a shortened lifespan. There is currently no cure or specific treatment for this condition. What causes Mitochondrial Complex I Deficiency, Nuclear Type 17? Mitochondrial Complex I Deficiency, Nuclear Type 17 is caused by a change, or mutation, in both copies of the NDUFAF6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Mitochondrial Complex I Deficiency, Nuclear Type 19
|
FOXRED1 (NM_017547.3) |
General population |
1 in 376 |
1 in 37500 |
99% |
|
|
Mitochondrial Complex I Deficiency, Nuclear Type 3
|
NDUFS7 (NM_024407.4) |
General population |
1 in 387 |
1 in 38600 |
99% |
|
|
Mitochondrial Complex I Deficiency, Nuclear Type 4
|
NDUFV1 (NM_007103.3) |
General population |
1 in 387 |
1 in 38600 |
99% |
|
|
Mitochondrial Complex IV Deficiency, Nuclear Type 2, SCO2-Related
|
SCO2 (NM_005138.2) |
General population |
1 in 332 |
1 in 33101 |
99% |
|
What is mitochondrial complex IV deficiency, nuclear type 2, SCO2-related? Mitochondrial complex IV deficiency, nuclear type 2, SCO2-related, is an inherited disorder that causes abnormal function of the mitochondria, the energy-producing structures found in the cells of the body. Symptoms typically begin in the first months of life, often starting shortly after birth. Affected babies have poor muscle tone (hypotonia), feeding and breathing problems, and an enlarged weakened heart (hypertrophic cardiomyopathy). Some affected children also have an enlarged liver, breakdown of muscle tissue (atrophy) and weakness (myopathy), developmental delays, atypical eye movements (nystagmus), and/or brain changes. There is currently no cure or specific treatment for this condition and lifespan may be shortened, with death occurring in infancy or early childhood. What causes mitochondrial complex IV deficiency, nuclear type 2, SCO2-related? Mitochondrial complex IV deficiency, nuclear type 2, SCO2-related, is caused by a change, or mutation, in both copies of the SCO2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
|
COX15 (NM_004376.6) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Mitochondrial Dna Depletion Syndrome 2
|
TK2 (NM_004614.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Mitochondrial Dna Depletion Syndrome 3
|
DGUOK (NM_080916.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Mitochondrial Myopathy and Sideroblastic Anemia
|
PUS1 (NM_025215.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Iranian |
< 1 in 500 |
1 in 49901 |
>99% |
|
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)
|
PUS1 (NM_025215.5) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Iranian |
< 1 in 500 |
1 in 49901 |
99% |
|
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)
|
PUS1 (NM_ 025215.5) |
Sephardic Jewish - Iranian |
Unknown |
Unknown |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)?
Mitochondrial Myopathy and Sideroblastic Anemia, also known as Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 (MLASA1) is an autosomal recessive disorder that causes extreme fatigue, breathing problems, muscle weakness with exercise (exercise intolerance), and a specific type of anemia known as sideroblastic anemia. Exercise intolerance often begins in childhood and worsens over time. Sideroblastic anemia, in which the bone marrow makes abnormally shaped red blood cells that have trouble carrying enough oxygen to the cells of the body, usually begins in adolescence. Delayed growth, facial abnormalities, and intellectual disability occur in some people but are less common.
What causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)?
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) is caused by a change, or mutation, in both copies of the PUS1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Mitochondrial Trifunctional Protein Deficiency, HADHB-Related
|
HADHB (NM_000183.2) |
General population |
1 in 146 |
1 in 14501 |
99% |
|
What is Mitochondrial Trifunctional Protein Deficiency, HADHB-Related? Mitochondrial Trifunctional Protein Deficiency, HADHB-Related is an inherited disorder in which the body cannot break down and use certain fats for energy. There is an early-onset severe form that sometimes results in death, even with treatment; a childhood-onset form that needs lifelong treatment; and a rare late-onset form which has milder symptoms. Symptoms in infants with the early-onset form may include vomiting, lack of energy, weak muscle tone, low blood sugar (hypoglycemia), and liver problems. If not treated quickly, breathing problems, heart problems, coma, and even death may occur. The childhood-onset form has similar symptoms, often triggered by going a long time without eating (fasting) or during illness. Treatment usually includes a medical low-fat diet, avoidance of fasting, and other supplements that help prevent or lessen the symptoms. Even with careful treatment, some children still have repeated episodes of low blood sugar and other long-term health problems. The milder late-onset form has symptoms that can include muscle breakdown and nerve damage, leading to cramping, weakness, and pain and red-brown colored urine. Clinical trials involving potential new treatments for these conditions may be available (see www.clinicaltrials.gov). What causes Mitochondrial Trifunctional Protein Deficiency, HADHB-Related? Mitochondrial Trifunctional Protein Deficiency, HADHB-Related is caused by a gene change, or mutation, in both copies of the HADHB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to tell whether a given mutation in the HADHB gene will cause the early-onset, childhood-onset, or later-onset form of this condition. |
Mitochondrial complex I Deficiency, Nuclear Type 1
|
NDUFS4 (NM_002495.3) |
General population |
1 in 423 |
1 in 42201 |
99% |
|
What is Mitochondrial Complex I Deficiency, Nuclear Type 1? Mitochondrial Complex I Deficiency, Nuclear Type 1 is an inherited disorder that causes abnormal function of the mitochondria, the energy-producing structures found in the cells of the body. Symptoms can start in infancy, childhood, or not until later in adulthood. Common symptoms include larger than normal head size, progressive loss of the white matter of the brain, seizures, enlarged heart, vision loss, liver disease, kidney disease, muscle disease, and abnormal movements. Infants who show symptoms early in life usually have more severe disease and may have a shortened lifespan. There is currently no cure or specific treatment for this condition. What causes Mitochondrial Complex I Deficiency, Nuclear Type 1? Mitochondrial Complex I Deficiency, Nuclear Type 1 is caused by a change, or mutation, in both copies of the NDUFS4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Molybdenum Cofactor Deficiency Type B
|
MOCS2 (NM_176806.3; NM_004531.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Molybdenum Cofactor Deficiency, Type A
|
MOCS1 (NM_005943.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Molybdenum Cofactor Deficiency, Type A? Molybdenum Cofactor Deficiency, Type A is an inherited disorder that affects the brain and nervous system. Signs and symptoms of this disorder usually appear within the first week of life. Initial symptoms include difficulty feeding and severe seizures that do not respond to treatment. Affected infants may also have smaller than average head and brain size (microcephaly) and coarse facial features. Brain abnormalities, including progressive loss of brain tissue, lead to severe developmental disability. Many children with Molybdenum Cofactor Deficiency, Type A pass away during infancy or early childhood. Those who survive typically have seizures, visual impairment, and severe intellectual disability. Some treatment options have shown promise for improving outcome in some patients; however, for many affected individuals, no long-term effective therapy is available. What causes Molybdenum Cofactor Deficiency, Type A? Molybdenum Cofactor Deficiency, Type A is caused by a gene change, or mutation, in both copies of the MOCS1 gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
GNPTAB (NM_ 024312.4) |
Asian |
1 in 389 |
1 in 2426 |
84% |
|
Caucasian |
1 in 225 |
1 in 4481 |
95% |
General population |
1 in 408 |
1 in 8141 |
>95% |
What is Mucolipidosis II/IIIA?
Mucolipidosis II/IIIA, also known as I-cell Disease or Pseudo-Hurler Polydystrophy, refers to two related autosomal recessive disorders that affect many parts of the body. Signs and symptoms of Mucolipidosis II begin in infancy and include short stature, developmental delay, abnormalities of the bones and joints, and heart disease. Other symptoms may include recurrent respiratory and ear infections, breathing problems, vision problems, hearing loss, hernias, carpal tunnel syndrome, and thickened skin. Children lose developmental skills over time, symptoms worsen, and death usually occurs in childhood. In some cases, individuals with Mucolipidosis II have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Signs and symptoms of Mucolipidosis IIIA usually begin in early childhood and are milder than those of Mucolipidosis II. Lifespan may be normal in individuals with Mucolipidosis IIIA and rare affected individuals do not show symptoms until adulthood.
What causes Mucolipidosis II/IIIA?
Mucolipidosis II/IIIA is caused by a gene change, or mutation, in both copies of the GNPTAB gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the GNPTAB gene pair is needed to break down and get rid of waste in the cells of the body. When both copies of the GNPTAB gene do not work correctly, it leads to the symptoms described above. |
Mucolipidosis II/IIIA
|
GNPTAB (NM_024312.4) |
Asian |
1 in 389 |
1 in 38801 |
99% |
|
Caucasian |
1 in 225 |
1 in 22401 |
99% |
General population |
1 in 158 |
1 in 15701 |
99% |
|
Mucolipidosis III gamma
|
GNPTG (NM_032520.4) |
Caucasian |
1 In 273 |
1 in 27201 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Mucolipidosis III gamma
|
GNPTG (NM_032520.4) |
Caucasian |
1 In 273 |
1 in 4534 |
94% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
GNPTG (NM_ 032520.4) |
Caucasian |
1 In 273 |
1 in 4534 |
94% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Mucolipidosis III gamma?
Mucolipidosis III gamma is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms of Mucolipidosis type III gamma usually begin by the age of 3 and include short stature, unusual facial features, abnormalities and pain in the bones and joints, and heart disease. Some affected children have mild intellectual disability. Symptoms worsen over time. Most people with this condition live until adulthood but lifespan may be shortened. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Mucolipidosis III gamma?
Mucolipidosis III gamma is caused by a gene change, or mutation, in both copies of the GNPTG gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the GNPTG gene pair is needed to break down certain substances in the cells of the body. When both copies of the GNPTG gene do not work correctly, it leads to the symptoms described above. |
Mucolipidosis, Type II/III Alpha/Beta
|
GNPTAB (NM_024312.4) |
Asian |
1 in 389 |
1 in 2426 |
84% |
|
Caucasian |
1 in 225 |
1 in 4481 |
95% |
General population |
1 in 408 |
1 in 8141 |
>95% |
|
Mucolipidosis, Type IV
|
MCOLN1 (NM_020533.2) |
Ashkenazi Jewish |
1 in 89 |
1 in 1761 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Mucolipidosis, Type IV
|
MCOLN1 (NM_020533.2) |
Ashkenazi Jewish |
1 in 89 |
1 in 8801 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
MCOLN1 (NM_020533.3) |
Ashkenazi Jewish |
1 in 89 |
1 in 1761 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Mucolipidosis, Type IV?
Mucolipidosis, Type IV is an autosomal recessive disorder in which affected infants and children have motor delay, severe intellectual disability, and vision problems that worsen over time. Other common symptoms include weak muscle tone (hypotonia), problems eating and swallowing, limited speech, and problems with movement, especially of the hands. Lifespan may be shortened although most people with this condition live into adulthood. A small number of people with Mucolipidosis, Type IV have milder symptoms. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Mucolipidosis, Type IV?
Mucolipidosis, Type IV is caused by a gene change, or mutation, in both copies of the MCOLN1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type I (Hurler Syndrome)
|
IDUA (NM_000203.5) |
General population |
1 in 144 |
1 in 2861 |
>95% |
|
What is Mucopolysaccharidosis, Type I (Hurler Syndrome)?
Mucopolysaccharidosis, Type I, also known as Hurler syndrome, is an autosomal recessive disorder that causes toxic buildup of certain types of sugars, called glycosaminoglycans, in the body. There are mild and severe forms of Mucopolysaccharidosis, Type I. Most children with Mucopolysaccharidosis, Type I have symptoms in the first years of life that may include progressive intellectual disability, large head size, coarse facial features, heart problems, bone problems, short stature, enlarged liver and spleen, frequent infections, vision problems, and breathing problems. Without treatment, children with this form of Mucopolysaccharidosis, Type I usually do not survive past childhood. People with milder forms of this disorder usually live into adulthood and have a milder degree of intellectual disability. Treatment may include enzyme replacement therapy. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type I (Hurler Syndrome)?
Mucopolysaccharidosis, Type I is caused by a gene change, or mutation, in both copies of the IDUA gene pair. These mutations cause the genes to not work properly or not work at all. The function of the IDUA genes is to create an enzyme which breaks down long chain sugar molecules and clears them from the body. When both copies of this gene do not work correctly, it causes buildup of certain sugars over time causing cell damage in many organs. This leads to the symptoms described above. |
Mucopolysaccharidosis, Type I (Hurler Syndrome)
|
IDUA (NM_000203.4) |
General population |
1 in 144 |
1 in 2861 |
>95% |
|
|
Mucopolysaccharidosis, Type I (Hurler Syndrome)
|
IDUA (NM_000203.4) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
|
Mucopolysaccharidosis, Type II (Hunter Syndrome)
|
IDS (NM_000202.7) |
General population |
1 in 75000 |
1 in 7499901 |
99% |
|
|
Mucopolysaccharidosis, Type II (Hunter Syndrome)
|
IDS (NM_ 000202.6) |
General population |
< 1 in 500 |
1 in 3565 |
86% |
|
What is Mucopolysaccharidosis, Type II (Hunter Syndrome)?
Mucopolysaccharidosis, Type II (also called Hunter Syndrome) is an X-linked inherited disorder that affects many parts of the body. It occurs mainly in boys and very rarely affects girls. There are two forms of this disorder, a severe form as well as a mild form. Signs and symptoms of the severe form of Mucopolysaccharidosis, Type II start in early childhood and include intellectual decline and disability, heart disease, and respiratory problems. Signs and symptoms of mild form begin in late childhood or adolescence, progress more slowly, and intelligence is not affected. Both forms of Mucopolysaccharidosis, Type II have symptoms that often include short stature, large head, large tongue, hearing loss, hoarse voice, spine problems, enlarged liver and spleen, heart problems, and breathing problems. Symptoms worsen over time and people with Mucopolysaccharidosis, Type II have a decreased lifespan with death usually occurring by early adulthood. Treatments are available to help lessen the severity of symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type II (Hunter Syndrome)?
Mucopolysaccharidosis, Type II is caused by a change, or mutation, in the IDS gene. This mutation causes the gene to not work properly or not work at all. When the IDS gene in a male does not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type II (Hunter Syndrome), X-Linked
|
IDS (NM_000202.6) |
General population |
1 in 75000 |
1 in 540000 |
86% |
|
|
Mucopolysaccharidosis, Type IIIA (Sanfilippo A)
|
SGSH (NM_000199.3) |
Caucasian |
1 in 253 |
1 in 5041 |
95% |
|
General population |
1 in 415 |
1 in 8281 |
>95% |
|
Mucopolysaccharidosis, Type IIIA (Sanfilippo A)
|
SGSH (NM_000199.4) |
Caucasian |
1 in 253 |
1 in 25201 |
99% |
|
General population |
1 in 415 |
1 in 41401 |
99% |
|
Mucopolysaccharidosis, Type IIIA (Sanfilippo A)
|
SGSH (NM_ 000199.3) |
Caucasian |
1 in 253 |
1 in 5041 |
95% |
|
General population |
1 in 415 |
1 in 8281 |
>95% |
What is Mucopolysaccharidosis, Type IIIA (Sanfilippo A)?
Mucopolysaccharidosis, Type IIIA (also called Sanfilippo A) is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms of Mucopolysaccharidosis, Type IIIA usually begin in early childhood and include unusual facial features, a large head size, bone and joint abnormalities, intellectual disability, behavioral problems, sleep difficulties, and coordination and movement problems. Other symptoms include recurrent respiratory and ear infections, vision problems, hearing loss, and hernias. Children lose developmental skills over time, symptoms worsen, and lifespan is shortened with death usually occurring by early adulthood. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type IIIA (Sanfilippo A)?
Mucopolysaccharidosis, Type IIIA is caused by a change, or mutation, in both copies of the SGSH gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SGSH gene do not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
|
NAGLU (NM_ 000263.3) |
Asian |
1 in 298 |
1 in 5941 |
>95% |
|
Caucasian |
1 in 346 |
1 in 1726 |
80% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Mucopolysaccharidosis, Type IIIB (Sanfilippo B)?
Mucopolysaccharidosis, Type IIIB (also called Sanfilippo B) is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms vary from person to person and usually start in childhood, although occasionally do not start until adulthood. Typical symptoms include unusual facial features, large head size, bone and joint abnormalities, intellectual disability, behavioral problems, sleep difficulties, and coordination and movement problems. Other symptoms may include recurrent respiratory and ear infections, vision problems, hearing loss, and hernias. Developmental skills are lost over time, symptoms worsen, and lifespan is usually shortened. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type IIIB (Sanfilippo B)?
Mucopolysaccharidosis, Type IIIB is caused by a change, or mutation, in both copies of the NAGLU gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the NAGLU gene do not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
|
NAGLU (NM_000263.3) |
Asian |
1 in 298 |
1 in 5941 |
>95% |
|
Caucasian |
1 in 346 |
1 in 1726 |
80% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Mucopolysaccharidosis, Type IIIB (Sanfilippo B)
|
NAGLU (NM_000263.3) |
Asian |
1 in 298 |
1 in 29701 |
99% |
|
Caucasian |
1 in 346 |
1 in 34501 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
|
HGSNAT (NM_152419.2) |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
|
Caucasian |
1 in 259 |
1 in 48101 |
99% |
General population |
1 in 482 |
1 in 48101 |
99% |
|
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
|
HGSNAT (NM_ 152419.2) |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
|
Caucasian |
1 in 259 |
1 in 3687 |
93% |
General population |
1 in 482 |
1 in 9621 |
>95% |
What is Mucopolysaccharidosis, Type IIIC (Sanfilippo C)?
Mucopolysaccharidosis, Type IIIC (also called Sanfilippo C) is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms of Mucopolysaccharidosis, Type IIIC usually begin in early childhood and include unusual facial features, a large head size, bone and joint abnormalities, intellectual disability, behavioral problems, sleep difficulties, and coordination and movement problems. Other symptoms include recurrent respiratory and ear infections, vision problems, hearing loss, and hernias. Children lose developmental skills over time, symptoms worsen, and lifespan is shortened with death usually occurring by early adulthood. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type IIIC (Sanfilippo C)?
Mucopolysaccharidosis Type IIIC is caused by a change, or mutation, in both copies of the HGSNAT gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the HGSNAT gene do not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type IIIC (Sanfilippo C)
|
HGSNAT (NM_152419.2) |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
|
Caucasian |
1 in 259 |
1 in 3687 |
93% |
General population |
1 in 482 |
1 in 9621 |
>95% |
|
Mucopolysaccharidosis, Type IIID
|
GNS (NM_002076.3) |
General population |
< 1 in 500 |
1 in 4991 |
90% |
|
|
Mucopolysaccharidosis, Type IIID (Sanfilippo D)
|
GNS (NM_002076.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Mucopolysaccharidosis, Type IIID (Sanfilippo D)
|
GNS (NM_ 002076.3) |
General population |
< 1 in 500 |
1 in 4991 |
90% |
|
What is Mucopolysaccharidosis, Type IIID (Sanfilippo D)?
Mucopolysaccharidosis (MPS), Type IIID (also called Sanfilippo D) is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms vary from person to person and usually start in childhood, although occasionally do not start until adulthood. Typical symptoms include unusual facial features, large head size, bone and joint abnormalities, intellectual disability, behavioral problems, sleep difficulties, and coordination and movement problems. Other symptoms may include recurrent respiratory and ear infections, vision problems, hearing loss, and hernias. Developmental skills are lost over time, symptoms worsen, and lifespan is usually shortened. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type IIID (Sanfilippo D)?
MPS, Type IIID is caused by a change, or mutation, in both copies of the GNS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the GNS gene do not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type IVA (Morquio Syndrome)
|
GALNS (NM_000512.4) |
General population |
1 in 307 |
1 in 30601 |
99% |
|
What is Mucopolysaccharidosis, Type IVA (Morquio Syndrome)? Mucopolysaccharidosis (MPS), Type IVA (also called Morquio Syndrome) is an inherited disorder that affects many parts of the body. MPS, Type IVA, causes skeletal abnormalities, and abnormal growth of bone and cartilage. Other common signs and symptoms include short stature, overly mobile joints, hearing loss, breathing problems, spinal cord problems, hernias, sleep apnea, heart disease, multiple cavities, and clouding of the cornea of the eye. Intelligence is not affected. Lifespan is decreased in children with the early-onset form of MPS, Type IVA with death often occurring in late childhood or early teens. Lifespan may be near normal in people with the later-onset form. In some cases, affected individuals have been treated with or participated in clinical trials using stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Mucopolysaccharidosis, Type IVA (Morquio Syndrome)? MPS, Type IVA is caused by a change, or mutation, in both copies of the GALNS gene pair, which cause the genes to not work properly or not work at all. When both copies of the GALNS gene do not work properly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis
|
GLB1 (NM_ 000404.2) |
Caucasian |
1 in 278 |
1 in 5541 |
>95% |
|
Roma |
1 in 50 |
1 in 981 |
>95% |
South Brazilian |
1 in 58 |
1 in 1141 |
>95% |
General population |
1 in 158 |
1 in 3141 |
>95% |
What is Mucopolysaccharidosis, Type IVB/GM1 Gangliosidosis?
Mucopolysaccharidosis (MPS), Type IVB (also called Morquio Syndrome) and GM1 Gangliosidosis are autosomal recessive disorders that affect many parts of the body. Both disorders are caused by mutations in the same gene but they have different signs and symptoms.
The more common disorder, GM1 Gangliosidosis, causes progressive loss of nerve cells in the brain and spine. The infantile form of GM1 Gangliosidosis causes weakened muscles, loss of motor skills, developmental delay and intellectual disability, clouding of the cornea of the eye and degeneration of the retina that causes vision loss, and enlargement of the liver, spleen and heart. Babies with this form usually die by early childhood. Some children with GM1 Gangliosidosis do not start showing symptoms until early childhood and do not have organ enlargement but still have loss of skills and a shortened lifespan. In rare cases symptoms do not start until the teenage or early adult years and include episodes of muscle spasms (dystonia), problems with walking and speech, enlarged heart, and memory loss; this adult-onset form is mostly seen in people of Japanese ancestry.
The less common disorder, MPS, Type IVB, causes skeletal abnormalities, and abnormal growth of bone and cartilage. Other signs and symptoms of MPS, Type IVB often include short stature, overly mobile joints, hearing loss, breathing problems, spinal cord problems, hernias, sleep apnea, heart disease, multiple cavities in the teeth, and clouding of the cornea of the eye. Intelligence is not affected. Lifespan is decreased in children with the early-onset form of MPS, Type IVB with death often occurring in late childhood or early teens. Lifespan may be near normal in people with the later-onset form. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type IVB /GM1 Gangliosidosis?
MPS, Type IVB and GM1 Gangliosidosis are each caused by a change, or mutation, in both copies of the GLB1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the GLB1 gene do not work correctly, it leads to the symptoms of either GM1 Gangliosidosis or MPS, Type IVB as described above. |
Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis
|
GLB1 (NM_000404.3) |
Caucasian |
1 in 278 |
1 in 27701 |
99% |
|
General population |
1 in 158 |
1 in 15701 |
99% |
Roma |
1 in 50 |
1 in 4901 |
99% |
South Brazil |
1 in 65 |
1 in 6401 |
99% |
Maltese |
1 in 30 |
1 in 2901 |
99% |
|
Mucopolysaccharidosis, Type IX
|
HYAL1 (NM_153281.1) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Mucopolysaccharidosis, Type IX
|
HYAL1 (NM_153281.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Mucopolysaccharidosis, Type IX
|
HYAL1 (NM_ 153281.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Mucopolysaccharidosis, Type IX?
Mucopolysaccharidosis, Type IX, also known as Hyaluronidase Deficiency, is a rare autosomal recessive disorder that affects many parts of the body. Signs and symptoms begin in early childhood and include short stature, episodes of painful soft tissue masses that form around joints, and breakdown of the hip joint that worsens over time. Some children are born with a cleft palate and may have repeated ear infections. Intelligence is not affected. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Mucopolysaccharidosis, Type IX?
Mucopolysaccharidosis, Type IX is caused by a change, or mutation, in both copies of the HYAL1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the HYAL1 gene do not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
|
ARSB (NM_ 000046.3) |
Asian |
1 in 423 |
1 in 8441 |
>95% |
|
Caucasian |
1 in 273 |
1 in 5441 |
>95% |
General population |
1 in 291 |
1 in 5801 |
>95% |
What is Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)?
Mucopolysaccharidosis, Type VI (also called Maroteaux-Lamy Syndrome) is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms of Mucopolysaccharidosis, Type VI vary from person to person, often begin in early childhood, and include short stature, joint abnormalities, clouding of the cornea of the eye, large head, large tongue, hearing loss, hoarse voice, sleep disturbances, heart valve abnormalities, a buildup of fluid on the brain (hydrocephalus), hernias, and enlarged liver and spleen. Intelligence is not affected. Symptoms worsen over time and, depending on the severity of the symptoms, lifespan may be shortened. Treatment is available to help minimize the severity of symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)?
Mucopolysaccharidosis, Type VI is caused by a change, or mutation, in both copies of the ARSB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ARSB gene do not work correctly, it leads to the symptoms described above. |
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
|
ARSB (NM_000046.4) |
Asian |
1 in 423 |
1 in 42201 |
99% |
|
Caucasian |
1 in 273 |
1 in 27201 |
99% |
General population |
1 in 291 |
1 in 29001 |
99% |
|
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
|
ARSB (NM_000046.3) |
Asian |
1 in 423 |
1 in 8441 |
>95% |
|
Caucasian |
1 in 273 |
1 in 5441 |
>95% |
General population |
1 in 291 |
1 in 5801 |
>95% |
|
Mucopolysaccharidosis, Type VII
|
GUSB (NM_000181.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Mucopolysaccharidosis, Type VII? Mucopolysaccharidosis (MPS) Type VII (also called Sly Syndrome) is an inherited disorder that affects many parts of the body. Signs and symptoms of MPS, Type VII vary widely from person to person. Some babies have more severe symptoms that begin before birth and cause fluid buildup in the body, resulting in stillbirth or death shortly after birth. In other cases, symptoms typically begin in early childhood and include short stature, joint abnormalities, clouding of the cornea of the eye, large head, large tongue, hearing loss, hoarse voice, sleep disturbances, heart valve abnormalities, a buildup of fluid on the brain (hydrocephalus), hernias, and enlarged liver and spleen. Intellectual disability is found in some affected individuals but not in others. Symptoms worsen over time and, depending on the severity of the symptoms, lifespan may be shortened. Treatment is available to help minimize the severity of symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Mucopolysaccharidosis, Type VII? MPS, Type VII is caused by a change, or mutation, in both copies of the GUSB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the GUSB gene do not work correctly, it leads to the symptoms described above. |
|
TRIM37 (NM_015294.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Mulibrey Nanism? Mulibrey Nanism is an inherited disorder that causes severe growth problems and affects many parts of the body. Mulibrey stands for 'Muscle, Liver, Brain, and Eyes' and nanism means dwarfism. In this disorder, growth delays start during pregnancy and worsen with time leading to very short stature. Other common symptoms can include weak muscle tone (hypotonia), enlarged liver and spleen, heart problems, diabetes, various eye problems, intellectual disability, and distinctive facial features. Some affected children also have lung problems, discolorations of their skin (acanthosis nigricans), underdeveloped genitals, and/or bone problems, and some develop a type of kidney cancer called "Wilms tumor". Currently there is no cure for Mulibrey Nanism and treatment is based on symptoms. What causes Mulibrey Nanism? Mulibrey Nanism is caused by changes, or mutations, in both copies of the TRIM37 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the TRIM37 gene are not working correctly it leads to the symptoms described above. |
Multiple Pterygium Syndrome, CHRNG-Related / Escobar Syndrome
|
CHRNG (NM_005199.4) |
General population |
1 in 50 |
1 in 4901 |
99% |
|
What is Multiple Pterygium Syndrome, CHRNG-Related / Escobar Syndrome? Multiple Pterygium Syndrome, CHRNG-Related and Escobar Syndrome are related inherited disorders that affect the muscles and joints. Lack of muscle movement (akinesia) in the fetus during pregnancy causes problems with the joints and skin as they form. Abnormally formed joints (contractures) cause restriction of movement (arthrogryposis) and webbing of the skin. The most severe form of this condition, Multiple Pterygium Syndrome, CHRNG-Related, has the symptoms noted above along with other more serious signs and symptoms. During pregnancy, a fetus with Multiple Pterygium Syndrome, CHRNG-Related may have buildup of fluid throughout the body (hydrops fetalis), underdeveloped lungs and other organs, a small head (microcephaly), and other birth defects. Babies with Multiple Pterygium Syndrome, CHRNG-Related are often stillborn or may die shortly after birth due to the severity of the birth defects. Escobar Syndrome is less severe with symptoms that include joint contractures, webbing of the skin of the neck, knees, arms, and fingers and sometimes breathing problems at birth due to underdeveloped lungs. Some children with Escobar Syndrome have scoliosis and affected males sometimes have undescended testicles. Muscle weakness is seen at birth but tends to get better with time. There is no cure for these disorders and treatment is based on symptoms. What causes Multiple Pterygium Syndrome, CHRNG-Related / Escobar Syndrome? Multiple Pterygium Syndrome, CHRNG-Related and Escobar Syndrome are caused by a change, or mutation, in both copies of the CHRNG gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CHRNG gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the CHRNG gene will cause Multiple Pterygium Syndrome, CHRNG-Related or Escobar Syndrome. |
Multiple Sulfatase Deficiency
|
SUMF1 (NM_182760.3) |
Ashkenazi Jewish |
1 in 279 |
1 in 5561 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Multiple Sulfatase Deficiency
|
SUMF1 (NM_ 182760.3) |
Ashkenazi Jewish |
1 in 279 |
1 in 5561 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Multiple Sulfatase Deficiency?
Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disorder that causes problems in many parts of the body, but mainly in the brain, bones, and skin. Signs and symptoms vary from person to person. The most severe type of MSD, the ‘neonatal form’, has symptoms that begin shortly after birth and include seizures, movement problems, developmental delays, slow growth, excess hair, scaly skin (ichthyosis), scoliosis, other bone problems, and sometimes heart defects and/or enlarged liver and spleen. MRI scans show loss of white matter in the brain (leukodystrophy). Babies with the infantile form often die before the age of one. The most common form of MSD is called ‘late-infantile’ and has symptoms that usually begin by two years of age and include movement problems, progressive developmental delay, ichthyosis, and skeletal changes. Affected children lose developmental skills over time, symptoms worsen, and lifespan is shortened. There is also a rare form of MSD called ‘juvenile-onset’ with similar symptoms that typically begin between the ages of 2 and 4 that progress more slowly than the early-onset forms. Currently, there is no cure or specific treatment for any form of MSD.
What causes Multiple Sulfatase Deficiency?
Multiple Sulfatase Deficiency is caused by a change, or mutation, in both copies of the SUMF1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SUMF1 gene pair do not work correctly, it leads to the symptoms described above. |
Multiple Sulfatase Deficiency
|
SUMF1 (NM_182760.3) |
Ashkenazi Jewish |
1 in 279 |
1 in 27801 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Muscle-Eye- Brain Disease, POMGNT1-Related
|
POMGNT1 (NM_017739.3) |
Finnish |
1 in 111 |
1 in 2201 |
>95% |
|
General population |
1 in 462 |
1 in 9221 |
95% |
|
Muscle-Eye-Brain Disease, POMGNT1-Related
|
POMGNT1 (NM_017739.3) |
Finnish |
1 in 111 |
1 in 11001 |
99% |
|
General population |
1 in 462 |
1 in 46101 |
99% |
|
Muscle-Eye-Brain Disease, POMGNT1-Related
|
POMGNT1 (NM_ 017739.3) |
Finnish |
1 in 111 |
1 in 2201 |
>95% |
|
General population |
1 in 462 |
1 in 9221 |
95% |
What is Muscle-Eye-Brain Disease, POMGNT1-Related?
Muscle-Eye-Brain Disease, POMGNT1-Related is an autosomal recessive condition. It is one of a group of inherited disorders called dystroglycanopathies that affect many parts of the body. Signs and symptoms appear shortly after birth and include muscle weakness (hypotonia), eye abnormalities and vision problems, severe brain abnormalities, water on the brain (hydrocephalus), seizures, developmental delay, intellectual disability, and distinctive facial features. The symptoms and severity vary among affected children. Lifespan is often shortened with death occurring from early childhood to the early teens. There is no cure or specific treatment for this disorder.
Occasionally, mutations in the same gene cause a related form of dystroglycanopathy, either Muscular Dystrophy-Dystroglycanopathy, Type C3 (Limb-Girdle) (MDDGC3) or Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation) Type B3 (MDDGB3). Even more rarely, a separate condition called Retinitis Pigmentosa 76 may occur that affects only vision.
What causes Muscle-Eye-Brain Disease, POMGNT1-Related?
Muscle-Eye-Brain Disease, POMGNT1-Related is caused by a change, or mutation, in both copies of the POMGNT1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the POMGNT1 gene do not work correctly, it leads to the symptoms described above. |
Muscular Dystrophy-Dystroglycanopathy
|
RXYLT1 (NM_014254.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Musk-Related Congenital Myasthenic Syndrome
|
MUSK (NM_005592.3) |
General population |
1 in 447 |
1 in 44600 |
99% |
|
|
Myoneurogastrointestinal Encephalopathy (MNGIE)
|
TYMP (NM_ 001953.4) |
Caucasian |
1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Iranian |
1 in 158 |
1 in 3141 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Myoneurogastrointestinal Encephalopathy (MNGIE)?
Myoneurogastrointestinal Encephalopathy (MNGIE) is an autosomal recessive disorder that affects digestion and nerve function. The main symptom is ‘gastrointestinal dysmotility’, the inability to move food through the digestive tract. This can cause pain, discomfort, nausea, diarrhea, and weight loss. Some people with MNGIE also have tingling, numbness, and weakness in their limbs, especially in their hands and feet. Weak muscles in or around the eyes, and hearing loss may also occur. Symptoms of MNGIE usually begin before age 20, but can appear in earlier in childhood or late into adulthood. Currently there is no cure for this disorder and treatment is based on symptoms.
What causes Myoneurogastrointestinal Encephalopathy (MNGIE)?
MNGIE is caused by a gene change, or mutation, in both copies of the TYMP gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the TYMP gene is important in helping the mitochondria (the ‘powerhouses’ in the cells of the body) create energy that the cells can use. When both copies of the TYMP gene pair do not work correctly, it leads to the symptoms described above. |
Myoneurogastrointestinal Encephalopathy (MNGIE)
|
TYMP (NM_001953.4) |
Caucasian |
<1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
Sephardic Jewish - Iranian |
1 in 158 |
1 in 3141 |
>95% |
|
Myoneurogastrointestinal Encephalopathy (MNGIE)
|
TYMP (NM_001953.4) |
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
Sephardic Jewish - Iranian |
1 in 158 |
1 in 15701 |
99% |
|
|
CLCN1 (NM_000083.3) |
General population |
1 in 224 |
1 in 22301 |
99% |
|
Finnish |
1 in 59 |
1 in 5801 |
99% |
What is myotonia congenita? Myotonia congenita is an inherited condition that affects the muscles, causing muscle stiffness and cramps that vary from person to person and that can begin in infancy, childhood, or adulthood. There are two forms of myotonia congenita, Becker disease and Thomsen disease. Becker disease is more common and is a “recessive” form of myotonia congenita, meaning that it is passed down from two parents who are carriers of myotonia congenita but who do not themselves have a diagnosis of myotonia congenita. Thomsen disease is a “dominant” form of myotonia congenita, meaning that it is passed to a child from a parent who has Thomsen disease themself. People with Becker disease have myotonia (contracted, tense, stiff muscles) that can affect the muscles of the eyes, face, tongue, and legs, as well as other skeletal muscles. This stiffness can be lessened by short periods of repeated movement. Some people also have periods of muscle weakness, mostly in the hands, arms, and legs, that tends to occur when they start to move after rest, and some develop permanent, but mild, muscle weakness. Symptoms of Becker disease usually are noticed between the ages of 4 to 12 years. People with Thomsen disease have symptoms of myotonia that can start as early as infancy but are typically milder and do not include muscle weakness. In both forms, some people have reactions to certain types of anesthesia and medications and may need to avoid them. Currently there is no cure for either form of this condition and treatment is based on symptoms. What causes myotonia congenita? Autosomal recessive myotonia congenita (Becker disease) is caused by a change, or mutation, in both copies of the CLCN1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CLCN1 gene do not work correctly, it leads to the symptoms of Becker disease described above. |
Myotubular Myopathy, MTM1-Related, X-Linked
|
MTM1 (NM_000252.2) |
General population |
1 in 38000 |
1 in 760000 |
>95% |
|
|
Myotubular Myopathy, X-Linked
|
MTM1 (NM_000252.2) |
General population |
1 in 38000 |
1 in 3799901 |
99% |
|
|
Myotubular Myopathy, X-Linked
|
MTM1 (NM_ 000252.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Myotubular Myopathy, X-Linked?
Myotubular Myopathy, X-Linked is an X-linked disorder that occurs mainly in males and causes severe muscle weakness and poor muscle tone starting at birth. Male infants and boys with Myotubular Myopathy, X-Linked have feeding problems, severe breathing problems, and developmental delays. Muscle weakness may also lead to abnormal curvature of the spine, hip and knee contractures, and fragile bones. Some affected boys may also have weak facial muscles, trouble controlling eye movements, absent reflexes, recurrent ear and respiratory infections, or seizures. Death usually occurs in early childhood. Currently there is no cure or specific treatment for this condition.
What causes Myotubular Myopathy, X-Linked?
Myotubular Myopathy, X-Linked is caused by a change, or mutation, in the MTM1 gene. This mutation causes the gene to not work properly or not work at all. The MTM1 gene is important for the development and health of the muscles. When this gene is not working correctly in a male, it causes the symptoms described above. Most female carriers do not have symptoms of Myotubular Myopathy; although rare female carriers are found to have some symptoms, which are generally less severe than those seen in affected males. |
N-acetylglutamate Synthase Deficiency
|
NAGS (NM_ 153006.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is N-acetylglutamate Synthase Deficiency?
N-acetylglutamate Synthase Deficiency is an autosomal recessive disorder that causes an abnormal buildup of nitrogen, in the form of ammonia, in the blood. Too much ammonia is toxic to the body and causes damage to the brain and nervous system. If the condition is not treated, signs and symptoms often appear early in infancy. Symptoms include lethargy, feeding and breathing problems, inability to control body temperature, seizures, abnormal movements, and, sometimes, coma. If left untreated, the condition can lead to developmental delays and intellectual disability. Some people with this condition have symptoms, often triggered by stress or illness, which do not begin until later in life. People with the later-onset form have repeated episodes that may include vomiting, confusion, problems with coordination, or coma. Treatment is needed to prevent or reduce symptoms and includes both a special low protein medical diet and medications to reduce the amount of nitrogen in the body.
What causes N-acetylglutamate Synthase Deficiency?
N-acetylglutamate Synthase Deficiency is caused by a gene change, or mutation, in both copies of the NAGS gene pair. These mutations cause the genes to not work properly or not work at all. The NAGS genes make an enzyme that helps the body get rid of excess nitrogen. When both copies of the NAGS gene pair do not work correctly, ammonia builds up in the body and leads to the symptoms described above. |
N-acetylglutamate Synthase Deficiency
|
NAGS (NM_153006.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
N-acetylglutamate Synthase Deficiency
|
NAGS (NM_153006.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Nemaline Myopathy 2
|
NEB (NM_004543.4) |
Ashkenazi Jewish |
1 in 168 |
1 in 3341 |
>95% |
|
Finnish |
1 in 112 |
1 in 445 |
75% |
General population |
1 in 224 |
1 in 3718 |
94% |
|
Nemaline Myopathy, NEB-Related
|
NEB (NM_001271208.1) |
Ashkenazi Jewish |
1 in 168 |
1 in 16701 |
99% |
|
Finnish |
1 in 112 |
1 in 11101 |
99% |
General population |
1 in 224 |
1 in 22301 |
99% |
|
Nemaline Myopathy, NEB-Related
|
NEB (NM_ 004543.4) |
Ashkenazi Jewish |
1 in 168 |
1 in 3341 |
>95% |
|
Finnish |
1 in 112 |
1 in 445 |
75% |
General population |
1 in 224 |
1 in 3718 |
94% |
What is Nemaline Myopathy, NEB-Related?
Nemaline Myopathy, NEB-Related is an autosomal recessive disorder that affects skeletal muscles, mainly those in the face, neck, arms, legs, and the muscles that control breathing. The condition causes both muscle weakness and problems with muscle contraction. Signs and symptoms are caused by abnormal thread-like rods (“nemaline bodies”) in the muscle cells. Newborns have poor muscle tone (hypotonia) and may have feeding and breathing problems. Problems with swallowing and speech are also common. Most children with Nemaline Myopathy, NEB-Related are able to walk, although some may begin walking later than usual, and some people eventually need a wheelchair. Intelligence is not affected. Lifespan is often normal; however, in severe cases, life-threatening breathing problems and lung infections may occur. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Nemaline Myopathy, NEB-Related?
Nemaline Myopathy, NEB-Related is caused by a gene change, or mutation, in both copies of the NEB gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the NEB genes is important for normal muscle contractions. When both copies of the NEB gene pair do not work correctly, muscles are not able to contract properly, which leads to the symptoms described above. |
Nephrogenic Diabetes Insipidus, Avpr2-Related
|
AVPR2 (NM_000054.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
NPHP1 (NM_000272.3) |
General population |
1 in 202 |
1 in 20101 |
99% |
|
What is Nephronophthisis 1? Nephronophthisis 1 is an inherited disorder that affects the kidneys with symptoms that typically start in childhood. Initial symptoms are often excessive thirst and frequent urination, growth delays, fatigue, and anemia caused by problems with kidney function and progressive kidney cysts. The kidney disease worsens with time and the kidneys usual stop working completely (end stage renal disease), often by late childhood or adolescence. Once kidney failure occurs, affected individuals need dialysis followed by kidney transplantation. Some children have a related disorder – either Joubert Syndrome 4 or Senior-Loken Syndrome 1 – both of which are caused by mutations in the same gene and include the symptoms of Nephronophthisis 1 along with other health problems. Babies with Joubert Syndrome 4 are born with abnormalities in the parts of the brain called the cerebellum and brainstem; and have breathing problems, feeding problems, poor muscle tone, abnormal eye movements, and developmental delay along with the kidney problems described above. Children with Joubert Syndrome 4 may also have mild to severe intellectual disability, gait problems (ataxia), vision problems, seizures, and/or liver disease. Senior-Loken Syndrome 1 causes the same progressive kidney disease seen in Nephronophthisis 1 along with a type of vision loss called Leber Congenital Amaurosis. The vision problems in Senior-Loken Syndrome include sensitivity to light, abnormal eye movements (nystagmus) and loss of vision which may worsen over time. There is no cure or specific treatment for Nephronophthisis 1 or the two related disorders. What causes Nephronophthisis 1? Nephronophthisis 1 and related disorders are caused by a change, or mutation, in both copies of the NPHP1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the NPHP1 gene will cause Nephronophthisis 1, Joubert Syndrome 4, or Senior-Loken Syndrome 1. |
Nephrotic Syndrome, Type 1
|
NPHS1 (NM_004646.3) |
Finnish |
1 in 45 |
1 in 881 |
>95% |
|
General population |
1 in 325 |
1 in 6481 |
>95% |
Groffdale Conference Mennonites |
1 in 12 |
1 in 221 |
>95% |
|
Neuronal Ceroid LIpofuscinosis, CLN3-Related
|
CLN3 (NM_000086.2) |
Caucasian |
1 in 188 |
1 in 3741 |
>95% |
|
General population |
1 in 233 |
1 in 4641 |
>95% |
|
Neuronal Ceroid Lipofuscinosis, CLN5-Related
|
CLN5 (NM_006493.2) |
Finnish |
1 in 100 |
1 in 1981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Neuronal Ceroid Lipofuscinosis, CLN5-Related
|
CLN5 (NM_006493.2) |
Finnish |
1 in 289 |
1 in 28801 |
99% |
|
General population |
1 in 317 |
1 in 31601 |
99% |
|
Neuronal Ceroid Lipofuscinosis, CLN5-Related
|
CLN5 (NM_ 006493.2) |
Finnish |
1 in 100 |
1 in 1981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Neuronal Ceroid Lipofuscinosis, CLN5-Related?
Neuronal Ceroid Lipofuscinosis, CLN5-Related (also known as CLN5 Disease) is autosomal recessive. It is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of Neuronal Ceroid Lipofuscinosis, CLN5-Related begin in late infancy or early childhood and include coordination and movement problems, epileptic seizures, and vision loss. Over time, children show intellectual decline and lose developmental and motor skills. Wheelchair assistance is usually needed by late childhood. Symptoms worsen with time and lifespan is shortened with death usually occurring by adolescence. In rare cases, symptoms do not begin until adulthood and may include loss of memory and motor skills along with behavior changes. Currently there is no cure or specific treatment for this disorder.
What causes Neuronal Ceroid Lipofuscinosis, CLN5-Related?
Neuronal Ceroid Lipofuscinosis, CLN5-Related is caused by a change, or mutation, in both copies of the CLN5 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CLN5 gene do not work correctly, it leads to the symptoms described above. |
Neuronal Ceroid Lipofuscinosis, CLN6-Related
|
CLN6 (NM_ 017882.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Neuronal Ceroid Lipofuscinosis, CLN6-Related?
Neuronal Ceroid Lipofuscinosis, CLN6-Related (also known as CLN6 Disease) is autosomal recessive. It is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of Neuronal Ceroid Lipofuscinosis, CLN6-Related may first begin in early childhood or not until adulthood. Initial symptoms of the childhood-onset form include epileptic seizures and vision loss. Symptoms of the adulthood-onset form include coordination and movement problems and epileptic seizures without vision loss. Over time, both children and adults with Neuronal Ceroid Lipofuscinosis, CLN6-Related have intellectual decline and lose developmental and motor skills. Symptoms worsen with time and lifespan is shortened. Currently there is no cure or specific treatment for this disorder.
What causes Neuronal Ceroid Lipofuscinosis, CLN6-Related?
Neuronal Ceroid Lipofuscinosis, CLN6-Related is caused by a change, or mutation, in both copies of the CLN6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CLN6 gene do not work correctly, it leads to the symptoms described above. |
Neuronal Ceroid Lipofuscinosis, CLN6-Related
|
CLN6 (NM_017882.2) |
General population |
1 in 261 |
1 in 26001 |
99% |
|
|
Neuronal Ceroid Lipofuscinosis, CLN6-Related
|
CLN6 (NM_017882.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Neuronal Ceroid Lipofuscinosis, CLN8-Related
|
CLN8 (NM_018941.3) |
Finnish |
1 in 135 |
1 in 13401 |
99% |
|
General population |
1 in 349 |
1 in 34801 |
99% |
|
Neuronal Ceroid Lipofuscinosis, CLN8-Related
|
CLN8 (NM_018941.3) |
Finnish |
1 in 135 |
1 in 2681 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Neuronal Ceroid Lipofuscinosis, CLN8-Related
|
CLN8 (NM_ 018941.3) |
Finnish |
1 in 135 |
1 in 2681 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Neuronal Ceroid Lipofuscinosis, CLN8-Related?
Neuronal Ceroid Lipofuscinosis, CLN8-Related (also known as CLN8 Disease) is autosomal recessive. It is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of Neuronal Ceroid Lipofuscinosis, CLN8-Related begin in early childhood and include epileptic seizures along with coordination and movement problems. Over time, affected children have vision loss and intellectual decline and lose developmental and motor skills. Symptoms worsen with time and lifespan is often shortened. Some people have a milder form of this condition, sometimes called Northern Epilepsy, which has the same symptoms as described above but with slower progression. People with Northern Epilepsy may live to late adulthood. Currently there is no cure or specific treatment for this disorder.
What causes Neuronal Ceroid Lipofuscinosis, CLN8-Related?
Neuronal Ceroid Lipofuscinosis, CLN8-Related is caused by a change, or mutation, in both copies of the CLN8 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CLN8 gene do not work correctly, it leads to the symptoms described above. It is sometime, but not always, possible to tell whether a specific mutation in the CLN8 gene will cause the severe form of Neuronal Ceroid Lipofuscinosis, CLN8-Related or the milder form, Northern Epilepsy. |
Neuronal Ceroid Lipofuscinosis, MFSD8-Related
|
MFSD8 (NM_ 152778.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Neuronal Ceroid Lipofuscinosis, MFSD8-Related?
Neuronal Ceroid Lipofuscinosis, MFSD8-Related (also known as CLN7 Disease) is autosomal recessive. It is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of Neuronal Ceroid Lipofuscinosis, MFSD8-Related begin in early childhood and include epileptic seizures along with coordination and movement problems. Over time, affected children have vision loss and intellectual decline and lose developmental and motor skills. Symptoms worsen with time and lifespan is shortened. Currently there is no cure or specific treatment for this disorder.
What causes Neuronal Ceroid Lipofuscinosis, MFSD8-Related?
Neuronal Ceroid Lipofuscinosis, MFSD8-Related is caused by a change, or mutation, in both copies of the MFSD8 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the MFSD8 gene do not work correctly, it leads to the symptoms described above. |
Neuronal Ceroid Lipofuscinosis, MFSD8-Related
|
MFSD8 (NM_152778.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Neuronal Ceroid Lipofuscinosis, MFSD8-Related
|
MFSD8 (NM_152778.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Neuronal Ceroid Lipofuscinosis, PPT1-Related
|
PPT1 (NM_000310.3) |
Finnish |
1 in 70 |
1 in 6901 |
99% |
|
General population |
1 in 368 |
1 in 36701 |
99% |
|
Neuronal Ceroid Lipofuscinosis, PPT1-Related
|
PPT1 (NM_000310.3) |
Finnish |
1 in 70 |
1 in 1381 |
>95% |
|
General population |
1 in 368 |
1 in 7341 |
>95% |
|
Neuronal Ceroid Lipofuscinosis, PPT1-Related
|
PPT1 (NM_ 000310.3) |
Finnish |
1 in 70 |
1 in 1381 |
>95% |
|
General population |
1 in 368 |
1 in 7341 |
>95% |
What is Neuronal Ceroid Lipofuscinosis, PPT1-Related?
Neuronal Ceroid Lipofuscinosis, PPT1-Related (also known as CLN1 Disease) is autosomal recessive. It is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of Neuronal Ceroid Lipofuscinosis, PPT1-Related often begin in infancy and include coordination and movement problems, epileptic seizures, smaller than average head size (microcephaly), and developmental delay. Over time, affected children have vision loss and intellectual decline and lose developmental and motor skills. Symptoms worsen with time and lifespan is shortened with death usually occurring in childhood. Some children do not start developing symptoms until early childhood and may survive into their teens. There is also is a less common adult-onset form of Neuronal Ceroid Lipofuscinosis, PPT1-Related, sometimes called Kufs Disease, with symptoms that include seizures, coordination and movement problems, and intellectual decline with shortened lifespan. Currently there is no cure or specific treatment for Neuronal Ceroid Lipofuscinosis, PPT1-Related.
What causes Neuronal Ceroid Lipofuscinosis, PPT1-Related?
Neuronal Ceroid Lipofuscinosis, PPT1-Related is caused by a change, or mutation, in both copies of the PPT1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the PPT1 gene do not work correctly, it leads to the symptoms described above. |
Neuronal Ceroid Lipofuscinosis, TPP1-Related
|
TPP1 (NM_ 000391.3) |
Newfoundland |
1 in 59 |
1 in 1161 |
>95% |
|
General population |
1 in 314 |
1 in 6261 |
>95% |
What is Neuronal Ceroid Lipofuscinosis, TPP1-Related?
Neuronal Ceroid Lipofuscinosis, TPP1-Related (also known as CLN2 Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis, or Juvenile Batten Disease) is autosomal recessive. It is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of Neuronal Ceroid Lipofuscinosis, TPP1-Related typically begin in early childhood with epileptic seizures. Over time, affected children have vision loss and intellectual decline, develop a movement disorder, and lose developmental and motor skills. Symptoms worsen with time and lifespan is shortened with death usually occurring by adolescence or early adulthood. Currently there is no cure or specific treatment for this disorder.
Very rarely, mutations in the same gene cause a different inherited disorder called Spinocerebellar Ataxia, Type 7 (SCA7).
What causes Neuronal Ceroid Lipofuscinosis, TPP1-Related?
Neuronal Ceroid Lipofuscinosis, TPP1-Related is caused by a change, or mutation, in both copies of the TPP1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the TPP1 gene do not work correctly, it leads to the symptoms described above. |
Neuronal Ceroid Lipofuscinosis, TPP1-Related
|
TPP1 (NM_000391.3) |
General population |
1 in 314 |
1 in 6261 |
>95% |
|
Newfoundland |
1 in 59 |
1 in 1161 |
>95% |
|
Neuronal Ceroid Lipofuscinosis, TPP1-Related
|
TPP1 (NM_000391.3) |
General population |
1 in 314 |
1 in 31301 |
99% |
|
Newfoundland |
1 in 59 |
1 in 5801 |
99% |
|
Ngly1-Congenital Disorder Of Glycosylation
|
NGLY1 (NM_018297.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Niemann-Pick Disease, Type C1/D
|
NPC1 (NM_ 000271.4) |
Asian |
1 in 404 |
1 in 2688 |
85% |
|
Caucasian |
1 in 185 |
1 in 3681 |
>95% |
General population |
1 in 282 |
1 in 5621 |
>95% |
What is Niemann-Pick Disease, Type C1/D?
Niemann-Pick Disease, Type C1/D is one of a group of autosomal recessive disorders that affect many parts of the body. Signs and symptoms of Niemann-Pick Disease, Type C1/D often begin in childhood and include problems with coordination and muscle movements, seizures, liver and lung disease, abnormal eye movements (supranuclear palsy), and poor muscle tone. Other symptoms may include intellectual disability, seizures, and problems with speech and swallowing that worsen over time. Lifespan is shortened with death often occurring by early adulthood. In rare cases, symptoms do not occur until adulthood and may also include dementia and behavior changes. Currently there is no cure or specific treatment for this disorder.
What causes Niemann-Pick Disease, Type C1/D?
Niemann-Pick Disease, Type C1/D is caused by a change, or mutation, in both copies of the NPC1 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the NPC1 gene pair is needed for normal transport of substances within the cells of the body. When both copies of the NPC1 gene do not work correctly, it leads to the symptoms described above. |
Niemann-Pick Disease, Type C1/D
|
NPC1 (NM_000271.4) |
Asian |
1 in 404 |
1 in 40301 |
99% |
|
Caucasian |
1 in 185 |
1 in 18401 |
99% |
General population |
1 in 282 |
1 in 28101 |
99% |
|
Niemann-Pick Disease, Type C2
|
NPC2 (NM_006432.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Niemann-Pick Disease, Type C2
|
NPC2 (NM_ 006432.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Niemann-Pick Disease, Type C2?
Niemann-Pick Disease, Type C2 is one of a group of autosomal recessive disorders that affect many parts of the body. Signs and symptoms of Niemann-Pick Disease, Type C2 begin in childhood and include problems with coordination and muscle movements, seizures, liver and lung disease, abnormal eye movements (supranuclear palsy), and poor muscle tone. Other symptoms may include intellectual disability and problems with speech and swallowing that worsen over time. Lifespan is shortened with death often occurring by early adulthood. Currently there is no cure or specific treatment for this disorder.
What causes Niemann-Pick Disease, Type C2?
Niemann-Pick Disease, Type C2 is caused by a change, or mutation, in both copies of the NPC2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the NPC2 gene do not work correctly, it leads to the symptoms described above. |
Niemann-Pick Disease, Type CI/D
|
NPC1 (NM_000271.4) |
Asian |
1 in 404 |
1 in 2688 |
85% |
|
Caucasian |
1 in 185 |
1 in 3681 |
>95% |
General population |
1 in 282 |
1 in 5621 |
>95% |
|
Niemann-Pick Disease, Type CII
|
NPC2 (NM_006432.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Niemann-Pick Disease, Types A/B
|
SMPD1 (NM_000543.4) |
Ashkenazi Jewish |
1 in 115 |
1 in 2281 |
>95% |
|
Caucasian |
1 in 244 |
1 in 4861 |
>95% |
General population |
1 in 196 |
1 in 3901 |
>95% |
|
Niemann-Pick Disease, Types A/B
|
SMPD1 (NM_000543.5) |
Ashkenazi Jewish |
1 in 115 |
1 in 2281 |
>95% |
|
Caucasian |
1 in 244 |
1 in 4861 |
>95% |
General population |
1 in 196 |
1 in 3901 |
>95% |
What is Niemann-Pick Disease, Types A/B?
Niemann-Pick Disease, Types A/B (A and B) refers to two related autosomal recessive disorders that affect many parts of the body. These conditions result in a build-up of specific types of fats in body cells, tissues, and blood that worsens over time. Symptoms resulting from the buildup of fats include breathing problems, enlarged liver and spleen, and loss of motor skills. Niemann-Pick Disease usually results in a shortened lifespan. Children with Niemann-Pick Disease, Type A have progressive loss of cognitive skills and the condition is typically fatal in early childhood. Children with Niemann-Pick Disease, Type B often survive into adulthood. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Niemann-Pick Disease, Types A/B?
Niemann-Pick Disease, Types A/ B are caused by gene changes, or mutations, in both copies of the SMPD1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Niemann-Pick Disease, Types A/B
|
SMPD1 (NM_000543.4) |
Ashkenazi Jewish |
1 in 115 |
1 in 11401 |
99% |
|
Caucasian |
1 in 244 |
1 in 24301 |
99% |
General population |
1 in 196 |
1 in 19501 |
99% |
|
Nijmegen Breakage Syndrome
|
NBN (NM_002485.4) |
Caucasian |
1 in 155 |
1 in 15401 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Nijmegen Breakage Syndrome
|
NBN (NM_002485.4) |
Caucasian |
1 in 155 |
1 in 3081 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Nijmegen Breakage Syndrome
|
NBN (NM_ 002485.4) |
Caucasian |
1 in 155 |
1 in 3081 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Nijmegen Breakage Syndrome?
Nijmegen Breakage Syndrome is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms of this disorder begin in infancy and include smaller than average head size (microcephaly), an increased risk for cancer of the immune system (non-Hodgkin’s and other types of lymphoma), increased risk for solid tumor cancers, some degree of intellectual disability, short stature, reproductive problems in females, repeated upper respiratory infections, and distinct facial features. Children lose developmental skills over time, symptoms worsen, and lifespan may be shortened. People with Nijmegen Breakage Syndrome are sensitive to the effects of radiation on the body and should minimize exposure if possible. Currently there is no cure for this disorder and treatment is based on symptoms.
Individuals who are carriers for Nijmegen Breakage Syndrome do not have Nijmegen Breakage Syndrome themselves. However, initial studies suggest that carriers may be at increased risk to develop certain types of cancer. Further studies need to be done to determine the actual risk for cancer in carriers of Nijmegen Breakage Syndrome and which type of cancers are included in the risk.
What causes Nijmegen Breakage Syndrome?
Nijmegen Breakage Syndrome is caused by a change, or mutation, in both copies of the NBN gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the NBN gene pair is needed for repair of damaged DNA within the cells of the body. When both copies of the NBN gene do not work correctly, it leads to the symptoms described above. |
Non-Syndromic Hearing Loss, GJB2-Related
|
GJB2 (NM_ 004004.5) |
Ashkenazi Jewish |
1 in 21 |
1 in 401 |
>95% |
|
Asian |
1 in 50 |
1 in 981 |
>95% |
Caucasian |
1 in 42 |
1 in 821 |
>95% |
General population |
1 in 43 |
1 in 841 |
>95% |
What is Non-Syndromic Hearing Loss, GJB2-Related?
Non-Syndromic Hearing Loss, GJB2-Related (also called DFNB1) is an autosomal recessive disorder that causes early-onset hearing loss. “Non-syndromic’ means that no other parts of the body are affected, making hearing loss the only symptom of this condition. In Non-Syndromic Hearing Loss, GJB2-Related, hearing loss is typically present at birth (congenital). However, some children have normal hearing at birth and develop hearing loss during childhood. The severity varies from mild to profound sensorineural hearing loss. The treatment for hearing loss includes hearing aids and, in some cases, cochlear implants. Non-Syndromic Hearing Loss, GJB2-Related does not cause other health problems.
What causes Non-Syndromic Hearing Loss, GJB2-Related?
Non-Syndromic Hearing Loss, GJB2-Related is caused by a gene change, or mutation, in both copies of the GJB2 gene pair (also known as DFNB1). These mutations cause the genes to not work properly or not work at all. The function of the GJB2 gene is to make a protein that is important for hearing. When both copies of the GJB2 gene do not work correctly, it leads to Non-Syndromic Hearing Loss, GJB2-Related. |
Non-Syndromic Hearing Loss, GJB2-Related
|
GJB2 (NM_004004.5) |
Ashkenazi Jewish |
1 in 21 |
1 in 2001 |
99% |
|
Caucasian |
1 in 30 |
1 in 2901 |
99% |
East Asian |
1 in 40 |
1 in 3901 |
99% |
General population |
1 in 42 |
1 in 4101 |
99% |
|
Nonsyndromic Hearing Loss, GJB2-Related
|
GJB2 (NM_004004.5) |
Ashkenazi Jewish |
1 in 21 |
1 in 401 |
>95% |
|
Asian |
1 in 50 |
1 in 981 |
>95% |
Caucasian |
1 in 42 |
1 in 821 |
>95% |
General population |
1 in 43 |
1 in 841 |
>95% |
|
Nonsyndromic Hearing Loss, MYO15A-Related
|
MYO15A (NM_016239.3) |
General population |
1 in 117 |
1 in 11601 |
99% |
|
What is Non-Syndromic Hearing Loss, MYO15A-Related? Non-Syndromic Hearing Loss, MYO15A-Related (also called Deafness, Autosomal Recessive, 3 or DFNB3) is an inherited disorder that causes early-onset hearing loss. “Non-syndromic” means that no other parts of the body are affected, making hearing loss the only symptom of this condition. In Non-Syndromic Hearing Loss, MYO15A-Related, hearing loss is typically present at birth (congenital). However, some children have normal hearing at birth and develop hearing loss during childhood. The sensorineural hearing loss seen in this disorder is typically severe to profound. The treatment for hearing loss includes hearing aids and, in some cases, cochlear implants. Non-Syndromic Hearing Loss, MYO15A-Related does not cause other health problems. What causes Non-Syndromic Hearing Loss, MYO15A-Related? Non-Syndromic Hearing Loss, MYO15A-Related is caused by a gene change, or mutation, in both copies of the MYO15A gene pair (also known as DFNB3). These mutations cause the genes to not work properly or not work at all. The function of the MYO15A genes is to make a protein that is important for hearing. When both copies of the MYO15A gene do not work correctly, it leads to Non-Syndromic Hearing Loss, MYO15A-Related. |
Nonsyndromic Hearing Loss, Otoa-Related
|
OTOA (NM_144672.3) |
General population |
≤1 in 500 |
Reduced |
88% |
|
|
Nonsyndromic Hearing Loss, Otof-Related
|
OTOF (NM_194248.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Nonsyndromic Hearing Loss, Pjvk-Related
|
PJVK (NM_001042702.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Nonsyndromic Hearing Loss, Syne4-Related
|
SYNE4 (NM_001039876.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Nonsyndromic Hearing Loss, Tmc1-Related
|
TMC1 (NM_138691.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Nonsyndromic Hearing Loss, Tmprss3-Related
|
TMPRSS3 (NM_024022.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Nonsyndromic Intellectual Disability
|
CC2D1A (NM_017721.5) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Normophosphatemic Tumoral Calcinosis
|
SAMD9 (NM_017654.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Occipital Horn Syndrome (Motor neuropathy, distal), X-Linked
|
ATP7A (NM_000052.6) |
General population |
1 in 75000 |
1 in 580000 |
87% |
|
|
Oculocutaneous Albinism Type Iv
|
SLC45A2 (NM_016180.4) |
General population |
1 in 158 |
1 in 15700 |
99% |
|
|
Oculocutaneous Albinism Type, Iii
|
TYRP1 (NM_000550.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Oculocutaneous Albinism, OCA2-Related
|
OCA2 (NM_000275.2) |
General population |
1 in 50 |
1 in 4901 |
99% |
|
African American |
1 in 19 |
1 in 1801 |
99% |
Native American |
1 in 8 |
1 in 701 |
99% |
What is oculocutaneous albinism, OCA2-related? Oculocutaneous albinism, OCA2-related, is an inherited disorder that affects the pigmentation (coloring) of the eyes, skin, and hair. People with oculocutaneous albinism, OCA2-related, are born with less melanin, the substance that creates body coloring. This leads to lighter than average color of the hair, skin, and eyes, especially at birth and in infancy. Some people with this condition produce more pigment over time, leading to skin, hair, and eye color that is closer to that typical for their family. Some affected people have vision problems that can include light sensitivity (photophobia), involuntary eye movements (nystagmus), and blurry vision (decreased acuity). Currently there is no cure for this condition and treatment is based on symptoms. Treatments may include avoiding sun exposure and use of eyeglasses, sunglasses, and other vision aids. What causes oculocutaneous albinism, OCA2-related? Oculocutaneous albinism, OCA2-related, is caused by a change, or mutation, in both copies of the OCA2 gene pair. These mutations cause the gene to not work properly or not work at all. The job of the OCA2 gene is to help make melanin, which determines the coloring of our eyes, skin, and hair. When both copies of this gene are not working correctly, it leads to the symptoms described above. |
Oculocutaneous Albinism, Types 1A and 1B
|
TYR (NM_000372.4) |
General population |
1 in 100 |
1 in 9901 |
99% |
|
What is oculocutaneous albinism, types 1A and 1B? Oculocutaneous albinism (OCA), types 1A and 1B, are related inherited disorders that affect the pigmentation (coloring) of the eyes, skin, and hair. People with OCA 1A are born with no pigmentation, so they have white hair, white skin that does not tan with sun exposure, and blue irises (the colored part of the eye around the pupil). People with OCA 1B may be born with some pigmentation and may develop more as they get older. People with OCA 1B are usually born with white or light yellow hair that gets darker as they age, white skin that will also get somewhat darker as they age and may tan with sun exposure, and blue irises that might change to green, hazel, or brown with age. Both OCA 1A and 1B can also cause eye and vision problems, such as nystagmus (uncontrolled eye movement) and blurry vision. Currently there is no cure for these conditions and treatment is based on symptoms. Treatments may include avoiding sun exposure and use of eyeglasses, sunglasses, and other vision aids. What causes oculocutaneous albinism, types 1A and 1B? Oculocutaneous albinism, types 1A and 1B, are caused by a change, or mutation, in both copies of the TYR gene pair. These mutations cause the gene to not work properly or not work at all. The job of the TYR gene is to help make melanin, which determines the coloring of our eyes, skin, and hair. When both copies of this gene are not working correctly, it leads to the symptoms described above. The TYR gene pair does not work at all in people with OCA 1A and does not work properly in people with OCA 1B. |
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
|
WNT10A (NM_025216.2) |
General population |
1 in 305 |
1 in 6081 |
>95% |
|
|
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
|
WNT10A (NM_ 025216.2) |
General population |
1 in 305 |
1 in 6081 |
>95% |
|
What is Odonto-Onycho-Dermal Dysplasia/Schopf-Schulz-Passarge Syndrome?
Odonto-Onycho-Dermal Dysplasia (OODD) and Schopf-Schulz-Passarge Syndrome (SSPS) are autosomal recessive types of Ectodermal Dysplasias, a group of inherited disorders that affect the skin, sweat glands, teeth, and nails. OODD and SSPS have similar signs and symptoms including dry and thin body and scalp hair, undeveloped and absent teeth, fingernail abnormalities, excessive or absent sweating, hardening of the skin, especially on the palms of the hands or soles of the feet, and sometimes blistering rashes. SSPS may also cause benign eyelid cysts and sometimes other skin tumors. Many of the symptoms start in childhood; however, some may not show up until adulthood. Currently there is no cure for these conditions and treatment is based on symptoms. Carriers may have no symptoms or may have mild features such as dry skin, nail abnormalities, thin hair, and/or one or more misshapen or missing permanent teeth.
What causes Odonto-Onycho-Dermal Dysplasia /Schopf-Schulz-Passarge Syndrome?
OODD and SSPS are caused by a gene change, or mutation, in both copies of the WNT10A gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms of one of these disorders. |
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
|
WNT10A (NM_025216.2) |
General population |
1 in 305 |
1 in 30401 |
99% |
|
|
Omenn Syndrome
|
DCLRE1C (NM_001033855.1) |
General population |
< 1 in 500 |
1 in 2627 |
81% |
|
Navajo and Apache Native Americans |
1 in 48 |
1 in 941 |
>95% |
|
Omenn Syndrome, RAG2-Related
|
RAG2 (NM_000536.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Iraqi |
< 1 in 500 |
1 in 49901 |
>99% |
|
Omenn Syndrome, RAG2-Related
|
RAG2 (NM_000536.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Iraqi |
< 1 in 500 |
1 in 49901 |
99% |
|
Omenn Syndrome, RAG2-Related
|
RAG2 (NM_000536.2) |
Sephardic Jewish - Iraqi |
Unknown |
Unknown |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Omenn Syndrome, RAG2-Related?
Omenn Syndrome, RAG2-Related, an autosomal recessive condition, is one of a group of inherited disorders called Severe Combined Immunodeficiency (SCID). People with Omenn Syndrome have immune system problems that prevent their body from fighting off infections. Signs and symptoms begin in infancy and include life-threatening infections, failure to grow and gain weight at the expected rate, severe reddened and peeling skin, chronic diarrhea, and enlarged liver and spleen. Infants and children with this condition often die young. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Rarely, mutations in the same gene pair that cause Omenn Syndrome cause a related type of autosomal recessive SCID, either Combined Cellular and Humoral Immune Defects with Granulomas or a more severe type of SCID called SCID T negative, B negative, NK positive.
What causes Omenn Syndrome, RAG2-Related?
Omenn Syndrome, RAG2-Related is caused by a gene change, or mutation, in both copies of the RAG2 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the RAG2 gene pair is important for the health of the immune system. When both copies of the RAG2 gene do not work properly, it leads to the symptoms described above. |
Opitz G/BBB Syndrome, X-Linked
|
MID1 (NM_000381.3) |
General population |
1 in 37500 |
1 in 3749901 |
99% |
|
What is Opitz G/BBB syndrome, X-linked (GBBB1)? Opitz G/BBB syndrome, X-linked (GBBB1), is an inherited condition that mainly affects males. Signs and symptoms vary from person to person. Birth defects of multiple organs often occur. Typical changes in the head and face include small head and brain (microcephaly), wide-set eyes (hypertelorism), widow’s peak (V-shaped hairline), upturned nose, small chin, and missing teeth, among others. Birth defects of the windpipe (trachea) and voicebox (larynx) may cause problems with breathing and swallowing. Birth defects of the genitals are common and may include undescended testicles (cryptorchidism), a small scrotum, and a urethra that opens in the shaft of the penis instead of the end (hypospadias). Heart defects, cleft lip and/or palate, and brain defects occur in some, but not all, affected males. About half of males with GBBB1 syndrome have mild developmental delays and mild intellectual disability. Currently there is no cure for this condition and treatment is based on symptoms. What causes Opitz G/BBB syndrome, X-linked (GBBB1)? GBBB1 is caused by a change, or mutation, in the MID1 gene. When the MID1 gene is not working properly in a male, it can lead to the symptoms described above. |
Ornithine Aminotransferase Deficiency
|
OAT (NM_000274.3) |
Finnish |
1 in 147 |
1 in 2921 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
Sephardic Jewish - Iraqi, Syrian |
1 in 177 |
1 in 3521 |
>95% |
|
Ornithine Aminotransferase Deficiency
|
OAT (NM_ 000274.3) |
Finnish |
1 in 147 |
1 in 2921 |
>95% |
|
Sephardic Jewish - Iraqi, Syrian |
1 in 177 |
1 in 3521 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Ornithine Aminotransferase Deficiency?
Ornithine Aminotransferase Deficiency, also known as Gyrate Atrophy of the Choroid and Retina, is an autosomal recessive disorder that causes vision loss. Loss of eyesight is caused by damage to the parts of the eye called the choroid and retina. Signs and symptoms usually begin in late childhood and include myopia (nearsightedness) and night blindness. Vision symptoms worsen with age and can include blindness and cataracts by age fifty. Mild muscle weakness can also occur. Occasionally, affected infants will have high levels of ammonia in the blood that can lead to feeding problems, vomiting, seizures, and, if untreated, may lead to coma. Medical treatment can correct the high ammonia levels and the episodes stop occurring after infancy. People with this condition usually have normal intelligence but some have mild to moderate intellectual disability.
What causes Ornithine Aminotransferase Deficiency?
Ornithine Aminotransferase Deficiency is caused by a gene change, or mutation, in both copies of the OAT gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the OAT genes is important for the health of the eyes and nervous system. When both copies of the OAT gene do not work correctly, it leads to the symptoms described above. |
Ornithine Aminotransferase Deficiency
|
OAT (NM_000274.3) |
Finnish |
1 in 147 |
1 in 14601 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
Sephardic Jewish - Iraqi, Syrian |
1 in 177 |
1 in 17601 |
99% |
|
Ornithine Transcarbamylase Deficiency
|
OTC (NM_000531.5) |
General population |
< 1 in 30000 |
1 in 2999901 |
99% |
|
|
Ornithine Transcarbamylase Deficiency
|
OTC (NM_ 000531.5) |
General population |
< 1 in 500 |
1 in 9981 |
95% |
|
What is Ornithine Transcarbamylase Deficiency?
Ornithine Transcarbamylase (OTC) Deficiency is an X-linked inherited disorder that affects males more often than females. OTC Deficiency causes ammonia to build up in the blood. Ammonia is formed when protein from food is broken down in the body. When ammonia levels become too high, they cause damage to the body. Symptoms of OTC Deficiency most often begin in the first few days after birth. Infants with OTC Deficiency may have low energy (lethargic), be unwilling to eat, have vomiting, and have problems with breathing or body temperature. If untreated, symptoms may worsen to include seizures, muscle weakness, swelling of the brain, coma, or death within the first few weeks of life.
Less commonly, symptoms of OTC Deficiency can develop later in infancy, childhood, or adulthood. For those with later onset disease, symptoms can include intellectual disability, enlarged liver or liver disease, dry and brittle hair, avoidance of meat or other high protein foods, and episodes of high ammonia in the blood which can be life threatening if not treated promptly. Rarely, symptoms do not occur until adulthood and may include migraines, nausea, coordination difficulties, blurred vision, confusion, and hallucinations
When OTC Deficiency is detected early and proper treatment is started immediately, affected children are more likely to be able to live longer lives with improved growth and development. However, even with treatment, some children may still have learning disabilities and/or tight muscles (spasticity).
What causes Ornithine Transcarbamylase Deficiency?
Ornithine Transcarbamylase (OTC) Deficiency is caused by a change, or mutation, in the OTC gene. This mutation causes the gene to not work properly or not work at all. Males with OTC Deficiency do not make an enzyme that helps with the breakdown of nitrogen in the liver. When nitrogen is not broken down, it builds up in the blood as ammonia and causes the symptoms described above.
Some females who are carriers for OTC Deficiency have some symptoms of the disorder, although they are usually milder than those seen in affected males. Female carriers may need special medical care during any pregnancies, as some carriers develop high ammonia levels during pregnancy or after delivery. |
Ornithine Transcarbamylase Deficiency, X-Linked
|
OTC (NM_000531.5) |
General population |
< 1 in 30000 |
1 in 600000 |
95% |
|
|
Ornithine Translocase Deficiency
|
SLC25A15 (NM_014252.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Metis from Saskatchewan |
1 in 19 |
1 in 361 |
>95% |
|
Osteogenesis Imperfecta Type Vii
|
CRTAP (NM_006371.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Osteogenesis Imperfecta Type Viii
|
P3H1 (NM_022356.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Osteogenesis Imperfecta Type Xi
|
FKBP10 (NM_021939.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Osteogenesis Imperfecta Type Xiii
|
BMP1 (NM_006129.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Osteopetrosis, Infantile Malignant, TCIRG1-Related
|
TCIRG1 (NM_006019.2) |
Ashkenazi Jewish |
1 in 350 |
1 in 6981 |
>95% |
|
Chuvashiya |
1 in 60 |
1 in 1181 |
>95% |
Costa Rican |
1 in 86 |
1 in 1701 |
>95% |
General population |
1 in 316 |
1 in 6301 |
95% |
|
Osteopetrosis, Infantile Malignant, TCIRG1-Related
|
TCIRG1 (NM_006019.2) |
Ashkenazi Jewish |
1 in 350 |
1 in 6981 |
>95% |
|
Chuvashiya |
1 in 60 |
1 in 1181 |
>95% |
Costa Rican |
1 in 86 |
1 in 1701 |
>95% |
General population |
1 in 316 |
1 in 6301 |
95% |
What is Osteopetrosis, Infantile Malignant, TCIRG1-Related?
Osteopetrosis, Infantile Malignant, TCIRG1-Related is a severe autosomal recessive type of Osteopetrosis, a group of disorders that cause bones to become overly dense and fracture easily. Symptoms are usually seen by early infancy and include multiple bone fractures and dense skull bones which often harm nerves in the head and face. The nerve damage may result in loss of vision, hearing, and facial movement. Bones are easily fractured, even with minor falls or stress. Children with Osteopetrosis, Infantile Malignant, TCIRG1-Related may also have reduced bone marrow function which can cause severe anemia and repeated infections. Slow growth, short stature, and enlarged spleen and liver are also common. Some children also have brain abnormalities, seizures and intellectual disability, although this is less common. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Osteopetrosis, Infantile Malignant, TCIRG1-Related?
Osteopetrosis, Infantile Malignant, TCIRG1-Related is caused by a gene change, or mutation, in both copies of the TCIRG1 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the TCIRG1 gene is to help with bone development. When both copies of the TCIRG1 gene pair do not work correctly, it leads to the symptoms described above. |
Osteopetrosis, Infantile Malignant, TCIRG1-Related
|
TCIRG1 (NM_006019.3) |
Ashkenazi Jewish |
1 in 350 |
1 in 34901 |
99% |
|
Chuvashiya |
1 in 60 |
1 in 5901 |
99% |
General population |
1 in 316 |
1 in 31501 |
99% |
Costa Rican |
1 in 86 |
1 in 8501 |
99% |
|
Osteopetrosis, Ostm1-Related
|
OSTM1 (NM_014028.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
PLP1 (NM_000533.4) |
General population |
1 in 225000 |
1 in 22499901 |
99% |
|
Northern European Caucasian |
1 in 57700 |
1 in 5769901 |
99% |
What are PLP1 disorders? PLP1 disorders are a group of inherited conditions that affect the brain, nervous system, and muscles that mainly affect males. One form of PLP1 disorder, called spastic paraplegia 2 (SPG2), has symptoms that typically start between ages one and five and include progressive muscle stiffness (spasticity) and partial paralysis of the legs (paraparesis). The "pure form" of SPG2 causes spasticity and paraplegia with no other symptoms. The "complex form" may include spasticity in the arms as well as lessened sensitivity to touch, pain, and heat (peripheral neuropathy). Some males with the complex form also have movement and balance problems (ataxia), tremor, mild intellectual disability, involuntary eye movements (nystagmus), and progressive vision loss. A less common form, called PLP1 null syndrome, causes mild spasticity and leg and arm weakness along with peripheral neuropathy and mild or moderate intellectual disability. Lifespan in people with any form of SPG2 is usually normal. Another less common PLP1 disorder, Pelizaeus-Merzbacher disease (PMD), has symptoms that start from birth to age five and include weak muscle tone (hypotonia), nystagmus, ataxia, delayed motor skills, and progressive spasticity and severe weakness of the muscles in the arms and legs. The movement problems worsen over time and may include tremors of the head and neck, involuntary muscle contractions (dystonia) and jerky movements. Many males with PMD have developmental delays and intellectual disability and many cannot walk on their own or lose the ability over time. Some babies have a severe form of PMD (called connatal PMD) with breathing problems, seizures, and severe hypotonia and spasticity from birth. These children typically do not develop speech and lifespan is shortened. Currently there is no cure for the PLP1 disorders and treatment is based on symptoms. What causes PLP1 disorders? PLP1 disorders are caused by a change, or mutation, in the PLP1 gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to the symptoms described above. It is sometimes, but not always, possible to determine which form of the PLP1 disorders a given mutation in the PLP1 gene will cause. |
|
POLG (NM_002693.2) |
General population |
1 in 50 |
1 in 4901 |
99% |
|
What is POLG-Related DIsorders? POLG-Related Disorders are a group of related inherited disorders that affect the muscles, nerves, and brain. The POLG-Related Disorders include: Alpers-Huttenlocher Syndrome (AHS); Ataxia Neuropathy Spectrum (ANS); Childhood Myocerebrohepatopathy Spectrum (MCHS); Myoclonic Epilepsy Myopathy Sensory Ataxia (MEMSA); and Progressive External Ophthalmoplegia. Age at the start of symptoms varies from infancy to adulthood. Alpers-Huttenlocher Syndrome (AHS) is the most serious of the POLG-Related Disorders and causes severe inflammation and damage to the brain (encephalopathy) along with chronic, poorly-controlled seizures, and progressive liver damage. Other symptoms may include loss of developmental skills, coordination and balance problems, abnormal movements, absent reflexes, poor muscle tone (hypotonia), neuropathy (pain in the arms and legs), and/or loss of vision and hearing. Ataxia Neuropathy Spectrum (ANS) causes movement and coordination problems along with seizures and neuropathy (numbness and pain in the arms and legs). Some individuals with ANS have muscle twitches and/or vision loss. About half of individuals with ANS have weakness of the eye muscles (ophthalmoplegia) and drooping eyelids (ptosis). Childhood Myocerebrohepatopathy Spectrum (MCHS) symptoms start between infancy and 3 years of age and include developmental delay, muscle weakness, and poor growth. Some affected children have severe liver and kidney disease, pancreatitis, episodes of vomiting and/or hearing loss. Myoclonic Epilepsy Myopathy Sensory Ataxia (MEMSA) causes seizures, muscle weakness, and movement and coordination problems (ataxia), usually starting in early adulthood. Progressive External Ophthalmoplegia, Autosomal Recessive has symptoms that include weakness of the eye muscles that worsens with time and causes drooping of the eyelids (ptosis) and paralysis of the outer muscles that move the eye. Symptoms typically start in early-to-mid adulthood and are usually limited to the symptoms above, although some affected individuals develop some of the symptoms seen in the above disorders over time. Progressive External Ophthalmoplegia, Autosomal Dominant has symptoms similar to the autosomal recessive form but also include muscle weakness and fatigue, especially during exercise. Additional symptoms of the dominant form in some affected individuals include hearing loss, neuropathy (numbness and pain in the limbs), coordination and balance problems, and cataracts. Affected individuals may have an increased risk for Parkinson Disease. There is no cure for any of these disorders and treatment is based on symptoms. What causes POLG-Related Disorders? POLG-Related Disorders are caused by a change, or mutation, in both copies of the POLG gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms of one of the disorders described above. It is sometimes, but not always, possible to determine which of the POLG-Related Disorders a specific mutation in the POLG gene will cause. |
PROP1-Related Combined Pituitary Hormone Deficiency
|
PROP1 (NM_006261.4) |
General population |
1 in 141 |
1 in 2801 |
>95% |
|
|
Pantothenate Kinase-Associated Neurodegeneration
|
PANK2 (NM_153638.2) |
General population |
1 in 289 |
1 in 28800 |
99% |
|
|
Papillon Lefèvre Syndrome
|
CTSC (NM_001814.5) |
General population |
1 in 250 |
1 in 24900 |
99% |
|
|
Parkinson Disease 15
|
FBXO7 (NM_012179.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Pendred Syndrome
|
SLC26A4 (NM_000441.1) |
African American |
1 in 76 |
1 in 7501 |
99% |
|
Asian |
1 in 74 |
1 in 7301 |
99% |
Caucasian |
1 in 88 |
1 in 8701 |
99% |
General population |
1 in 80 |
1 in 7901 |
99% |
|
Pendred Syndrome
|
SLC26A4 (NM_000441.1) |
African American |
1 in 76 |
1 in 1501 |
>95% |
|
Asian |
1 in 74 |
1 in 1461 |
>95% |
Caucasian |
1 in 88 |
1 in 1244 |
93% |
General population |
1 in 80 |
1 in 1581 |
>95% |
|
|
SLC26A4 (NM_ 000441.1) |
African American |
1 in 76 |
1 in 1501 |
>95% |
|
Asian |
1 in 74 |
1 in 1461 |
>95% |
Caucasian |
1 in 88 |
1 in 1244 |
93% |
General population |
1 in 80 |
1 in 1581 |
>95% |
What is Pendred Syndrome?
Pendred Syndrome is an autosomal recessive disorder that causes hearing loss and growths on the thyroid gland called goiters. Most children with Pendred Syndrome are either born with or develop sudden severe hearing loss by 3 years of age. Thyroid goiters, which do not usually cause problems with thyroid function, develop in late childhood or early adulthood. Other symptoms may include difficulties with balance or other inner ear abnormalities. Some children have a slightly different form of this disorder, sometimes called DFNB4, which includes hearing loss, balance problems, and inner ear abnormalities, but no thyroid goiters.
What causes Pendred Syndrome?
Pendred Syndrome is caused by a gene change, or mutation, in both copies of the SLC26A4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SLC26A4 gene do not work properly, it leads to the symptoms described above. |
|
DIS3L2 (NM_152383.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
What is Perlman Syndrome? Perlman Syndrome is an inherited disorder that causes overgrowth of the body. Babies with Perlman Syndrome are born larger than normal, have weak muscle tone (hypotonia), and have enlarged organs and kidney defects. Some babies have brain abnormalities and some have other birth defects. Many affected babies die in infancy. Those who survive typically have developmental delay and are at increased risk for a type of kidney cancer called Wilms tumor. There is currently no cure for Perlman Syndrome and treatment is based on symptoms. What causes Perlman Syndrome? Perlman Syndrome is caused by a gene change, or mutation in both copies of the DIS3L2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Pgm3-Congenital Disorder Of Glycosylation
|
PGM3 (NM_001199917.1) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Phenylalanine Hydroxylase Deficiency
|
PAH (NM_000277.1) |
African American |
1 in 143 |
1 in 2841 |
>95% |
|
Ashkenazi Jewish |
1 in 225 |
1 in 3201 |
93% |
Asian |
1 in 78 |
1 in 1541 |
>95% |
Caucasian |
1 in 50 |
1 in 981 |
>95% |
General population |
1 in 65 |
1 in 1281 |
>95% |
Irish |
1 in 34 |
1 in 413 |
92% |
Sephardic Jewish - Iranian, Bukharian, Kavkazi, Tunisian, Moroccan |
1 in 18 |
1 in 190 |
91% |
Sicilian |
1 in 26 |
1 in 501 |
>95% |
Turkish |
1 in 32 |
1 in 621 |
>95% |
|
Phenylketonuria
|
PAH (NM_000277.2) |
African American |
1 in 143 |
1 in 14201 |
99% |
|
Ashkenazi Jewish |
1 in 225 |
1 in 22401 |
99% |
Asian |
1 in 78 |
1 in 7701 |
99% |
Caucasian |
1 in 50 |
1 in 4901 |
99% |
General population |
1 in 65 |
1 in 6401 |
99% |
Irish |
1 in 34 |
1 in 3301 |
99% |
Sicilian |
1 in 26 |
1 in 2501 |
99% |
Turkish |
1 in 32 |
1 in 3101 |
99% |
Sephardic Jewish - Iranian, Bukharian, Kavkazi, Tunisian, Moroccan |
1 in 18 |
1 in 1701 |
99% |
|
|
PAH (NM_ 000277.1) |
African American |
1 in 143 |
1 in 2841 |
>95% |
|
Ashkenazi Jewish |
1 in 225 |
1 in 3201 |
93% |
Asian |
1 in 78 |
1 in 1541 |
>95% |
Caucasian |
1 in 50 |
1 in 981 |
>95% |
Irish |
1 in 34 |
1 in 413 |
92% |
Sephardic Jewish - Iranian, Bukharian, Kavkazi, Tunisian, Moroccan |
1 in 18 |
1 in 190 |
91% |
Sicilian |
1 in 26 |
1 in 501 |
>95% |
Turkish |
1 in 32 |
1 in 621 |
>95% |
General population |
1 in 65 |
1 in 1281 |
>95% |
What is Phenylketonuria?
Phenylketonuria (PKU) is an autosomal recessive disorder in which the body is unable to breakdown a building block of protein called phenylalanine. When toxic levels of phenylalanine buildup in the body it causes problems for the brain, nervous system, and other parts of the body. If the condition is not treated, children with Phenylketonuria have intellectual disability, developmental delay, seizures, skin problems, and psychiatric problems. Lifelong dietary treatment with a diet low in phenylalanine is needed to treat Phenylketonuria. With treatment people with Phenylketonuria can lead healthy lives. Other forms of Phenylketonuria called variant PKU and non-PKU hyperphenylalaninemia can be less severe, and have a lower risk for brain and health problems. Some people with very mild cases may not need treatment with a low phenylalanine diet.
What causes Phenylketonuria?
Phenylketonuria is caused by a gene change, or mutation, in both copies of the PAH gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the PAH genes is important for breaking down phenylalanine from the diet. When both copies of the PAH gene do not work correctly, it leads to the symptoms described above. |
Pign-Congenital Disorder Of Glycosylation
|
PIGN (NM_176787.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Pituitary Hormone Deficiency, Combined 3
|
LHX3 (NM_ 014564.3) |
General population |
< 1 in 500 |
1 in 6238 |
92% |
|
What is Pituitary Hormone Deficiency, Combined 3?
Pituitary Hormone Deficiency, Combined 3 (CPHD3) is an autosomal recessive disorder that causes growth problems, short stature, spine and neck stiffness, sensorineural hearing loss, and other health problems due to lack of pituitary hormones in the body. Pituitary hormones are made in the brain by the pituitary gland. Affected infants have low blood sugar (hypoglycemia), seizures, underactive thyroid, and growth delays. If the condition is not treated, it causes short stature and may cause delayed or absent puberty and infertility (inability to have biological children), and intellectual disability. Treatment includes lifelong pituitary hormone replacement therapy.
What causes Pituitary Hormone Deficiency Combined-3?
Pituitary Hormone Deficiency Combined-3 (CPHD3) is caused by a change, or mutation, in both copies of the LHX3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, the body cannot make the needed pituitary hormones, leading to the symptoms described above. |
Pituitary Hormone Deficiency, Combined 3
|
LHX3 (NM_014564.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Polycystic Kidney Disease, Autosomal Recessive
|
PKHD1 (NM_138694.3) |
Ashkenazi Jewish |
1 in 106 |
1 in 10501 |
99% |
|
Caucasian |
1 in 100 |
1 in 9901 |
99% |
General population |
1 in 144 |
1 in 14301 |
99% |
South African Afrikaner |
1 in 52 |
1 in 5101 |
99% |
|
Polycystic Kidney Disease, Autosomal Recessive
|
PKHD1 (NM_ 138694.3) |
Ashkenazi Jewish |
1 in 106 |
1 in 2101 |
>95% |
|
Caucasian |
1 in 100 |
1 in 1981 |
>95% |
South African Afrikaner |
1 in 52 |
1 in 1021 |
>95% |
General population |
1 in 144 |
1 in 2861 |
>95% |
What is Polycystic Kidney Disease, Autosomal Recessive?
Polycystic Kidney Disease, Autosomal Recessive (ARPKD) is an autosomal recessive disorder that affects the kidneys and other organs, including the liver. Affected children are typically born with enlarged kidneys with multiple fluid-filled sacs called cysts. The kidneys do not work properly causing serious health problems. The fetal kidney problems begin in pregnancy and often affect fetal lung development. Lung development is affected by low fluid levels in the pregnancy (oligohydramnios) resulting from the kidney disease. Children born with Polycystic Kidney Disease, Autosomal Recessive often have very serious lung disease that may lead to death. Liver disease (congenital hepatic fibrosis) happens in about 45% of infants and children with Polycystic Kidney Disease, Autosomal Recessive. The disorder often leads to death in early infancy; however, some children have less severe symptoms and can survive with medical treatments. In very rare cases, symptoms do not start until adolescence or early adulthood.
What causes Polycystic Kidney Disease, Autosomal Recessive?
Polycystic Kidney Disease, Autosomal Recessive is caused by a gene change, or mutation, in both copies of the PKHD1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, the kidneys do not develop properly and liver disease may also occur, leading to the symptoms described above. |
Pontocerebellar Hypoplasia, EXOSC3-Related
|
EXOSC3 (NM_016042.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Pontocerebellar Hypoplasia, EXOSC3-RELATED? Pontocerebellar Hypoplasia, EXOSC3-Related (also called Pontocerebellar Hypoplasia, Type 1B) is an inherited disorder that causes abnormalities in the parts of the brain called the pons and cerebellum, leading to problems with muscle movement. Signs and symptoms are usually present at birth and include a small head size, severe muscle weakness (hypotonia), feeding and breathing problems, joint problems called contractures, intellectual disability, and vision problems. Lifespan is shortened and death often occurs in infancy or early childhood. There is no cure or specific treatment for this disorder. What causes Pontocerebellar Hypoplasia, EXOSC3-Related? Pontocerebellar Hypoplasia, EXOSC3-Related is caused by a gene change, or mutation, in both copies of the EXOSC3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the EXOSC3 gene do not work correctly, it leads to the symptoms described above. |
Pontocerebellar Hypoplasia, RARS2-Related
|
RARS2 (NM_020320.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Iraqi, Syrian, Tunisian |
< 1 in 500 |
1 in 49901 |
>99% |
|
Pontocerebellar Hypoplasia, RARS2-Related
|
RARS2 (NM_ 020320.3) |
Sephardic Jewish - Iraqi, Syrian, Tunisian |
Unknown |
Unknown |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Pontocerebellar Hypoplasia, RARS2-Related?
Pontocerebellar Hypoplasia, RARS2-Related is an autosomal recessive disorder that causes abnormal brain development. The two parts of the brain that are underdeveloped in children with this condition are called the pons and the cerebellum. These parts of the brain help send signals through the brain and also coordinate movement of the body. The underdeveloped pons and cerebellum cause a child to have a smaller head size (microcephaly), intellectual disability, decreased muscle tone, and vision loss. This condition usually results in death in infancy or early childhood. However there have been a few people with Pontocerebellar Hypoplasia, RARS2-Related who have lived into adulthood.
What causes Pontocerebellar Hypoplasia, RARS2-Related?
Pontocerebellar Hypoplasia, RARS2-Related is caused by a gene change, or mutation, in both copies of the RARS2 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the RARS2 genes is important for development of the brain. When both copies of the RARS2 gene do not work correctly, it leads to the symptoms described above. |
Pontocerebellar Hypoplasia, RARS2-Related
|
RARS2 (NM_020320.4) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Iraqi, Syrian, Tunisian |
< 1 in 500 |
1 in 49901 |
99% |
|
Pontocerebellar Hypoplasia, TSEN2-Related
|
TSEN2 (NM_025265.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Pontocerebellar Hypoplasia, TSEN2-Related? Pontocerebellar Hypoplasia, TSEN2-Related (also called Pontocerebellar Hypoplasia, Type 2B) is an inherited disorder that affects brain development. The two parts of the brain that are underdeveloped in this condition are the pons and the cerebellum. These parts of the brain help send signals through the brain and also coordinate movement of the body. Signs and symptoms of this disorder begin in infancy and include small head size (microcephaly), severe intellectual disability, delayed development, poor muscle tone with stiff muscles, seizures, vision impairment, and abnormal movement. Death may occur in childhood, however, survival into adulthood is possible. Currently there is no cure or specific treatment for this disorder. What causes Pontocerebellar Hypoplasia, TSEN2-Related? Pontocerebellar Hypoplasia, TSEN2-Related is caused by a gene change, or mutation, in both copies of the TSEN2 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the TSEN2 gene pair is important for the development of the brain. When both copies of the TSEN2 gene do not work correctly, it leads to the symptoms described above. |
Pontocerebellar Hypoplasia, TSEN54-Related
|
TSEN54 (NM_207346.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Pontocerebellar Hypoplasia, TSEN54-Related? Pontocerebellar Hypoplasia, TSEN54-Related (which includes four forms: Pontocerebellar Hypoplasia, Types 2, 4, and 5) is an inherited disorder that affects brain development. The two parts of the brain that are underdeveloped in this condition are the pons and the cerebellum. These parts of the brain help send signals through the brain and also coordinate movement of the body. Signs and symptoms of Type 2 disorder begin in infancy and include small head size (microcephaly), severe intellectual disability, delayed development, poor muscle tone with stiff muscles, seizures, vision impairment, and abnormal movement. Death may occur in childhood; however, survival into adulthood is possible. Types 4 and 5 are more severe and death usually occurs in infancy. Currently there is no cure or specific treatment for this disorder. What causes Pontocerebellar Hypoplasia, TSEN54-Related? Pontocerebellar Hypoplasia, TSEN54-Related is caused by a gene change, or mutation, in both copies of the TSEN54 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the TSEN54 gene pair is important for the development of the brain. When both copies of the TSEN54 gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the TSEN54 gene will cause Type 2, Type 4, or Type 5 Pontocerebellar Hypoplasia, TSEN54-Related. |
Pontocerebellar Hypoplasia, Type 1A
|
VRK1 (NM_003384.2) |
Ashkenazi Jewish |
1 in 225 |
1 in 22401 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Pontocerebellar Hypoplasia, Type 1A
|
VRK1 (NM_ 003384.2) |
Ashkenazi Jewish |
1 in 225 |
1 in 4481 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Pontocerebellar Hypoplasia, Type 1A?
Pontocerebellar Hypoplasia, Type 1A is an autosomal recessive disorder that causes abnormalities in the parts of the brain called the pons and cerebellum, leading to problems with muscle movement. Signs and symptoms are usually present at birth and include a small head size, severe muscle weakness (hypotonia), feeding and breathing problems, joint problems called contractures, intellectual disability, and vision problems. Lifespan is shortened and death often occurs in infancy or early childhood. There is no cure or specific treatment for this disorder.
Very rarely, specific mutations in the same genes cause a related condition called Hereditary Motor and Sensory Neuropathy, VRK1-Related. Hereditary Motor and Sensory Neuropathy, VRK1-Related affects the peripheral and sensory nerves leading to weak muscle tone and reduced sense of touch, pain, and temperature. Children with Hereditary Motor and Sensory Neuropathy, VRK1-Related also have delayed development and a small head size. Intelligence is normal.
What causes Pontocerebellar Hypoplasia, Type 1A?
Pontocerebellar Hypoplasia, Type 1A is caused by a gene change, or mutation, in both copies of the VRK1 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the VRK1 genes is important for the development of the brain. When both copies of the VRK1 gene pair do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the VRK1 gene will cause Pontocerebellar Hypoplasia, Type 1A or Hereditary Motor and Sensory Neuropathy, VRK1-Related. |
Pontocerebellar Hypoplasia, Type 2D
|
SEPSECS (NM_ 016955.3) |
Sephardic Jewish - Moroccan, Iraqi |
1 in 41 |
1 in 801 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Pontocerebellar Hypoplasia, Type 2D?
Pontocerebellar Hypoplasia, Type 2D (also called Progressive Cerebellocerebral Atrophy) is an autosomal recessive disorder that affects brain development. The two parts of the brain that are underdeveloped in this condition are the pons and the cerebellum. These parts of the brain help send signals through the brain and also coordinate movement of the body. Signs and symptoms of this disorder begin in infancy and include small head size (microcephaly), severe intellectual disability, delayed develop, poor muscle tone with stiff muscles, seizures, vision impairment, and abnormal movement. Death may occur in childhood; however survival into adulthood is possible. Currently there is no cure or specific treatment for this disorder.
What causes Pontocerebellar Hypoplasia, Type 2D?
Pontocerebellar Hypoplasia, Type 2D is caused by a gene change, or mutation, in both copies of the SEPSECS gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the SEPSECS gene pair is important for the development of the brain. When both copies of the SEPSECS gene do not work correctly, it leads to the symptoms described above. |
Pontocerebellar Hypoplasia, Type 2D
|
SEPSECS (NM_016955.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Moroccan, Iraqi |
1 in 41 |
1 in 4001 |
99% |
|
Pontocerebellar Hypoplasia, VPS53-Related
|
VPS53 (NM_001128159.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Pontocerebellar Hypoplasia, VPS53-Related? Pontocerebellar Hypoplasia, VPS53-Related (also called Pontocerebellar Hypoplasia, Type 2E) is an inherited disorder that affects brain development. The two parts of the brain that are underdeveloped in this condition are the pons and the cerebellum. These parts of the brain help send signals through the brain and also coordinate movement of the body. Signs and symptoms of this disorder begin in infancy and include small head size (microcephaly), severe intellectual disability, delayed development, poor muscle tone with stiff muscles, seizures, vision impairment, and abnormal movement. Death may occur in childhood; however, survival into adulthood is possible. Currently there is no cure or specific treatment for this disorder. What causes Pontocerebellar Hypoplasia, VPS53-Related? Pontocerebellar Hypoplasia, VPS53-Related is caused by a gene change, or mutation, in both copies of the VPS53 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the VPS53 gene pair is important for the development of the brain. When both copies of the VPS53 gene do not work correctly, it leads to the symptoms described above. |
Pontocerebellar Hypoplasia, VRK1-Related
|
VRK1 (NM_003384.2) |
Ashkenazi Jewish |
1 in 225 |
1 in 4481 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Primary Ciliary Dyskinesia, Ccdc103-Related
|
CCDC103 (NM_213607.2) |
General population |
1 in 316 |
1 in 31500 |
99% |
|
|
Primary Ciliary Dyskinesia, Ccdc39-Related
|
CCDC39 (NM_181426.1) |
General population |
1 in 211 |
1 in 21000 |
99% |
|
|
Primary Ciliary Dyskinesia, DNAH5-Related
|
DNAH5 (NM_001369.2) |
Ashkenazi Jewish |
1 in 174 |
1 in 3461 |
>95% |
|
General population |
1 in 120 |
1 in 2381 |
>95% |
|
Primary Ciliary Dyskinesia, DNAH5-Related
|
DNAH5 (NM_ 001369.2) |
Ashkenazi Jewish |
1 in 174 |
1 in 3461 |
>95% |
|
General population |
1 in 120 |
1 in 2381 |
>95% |
What is Primary Ciliary Dyskinesia, DNAH5-Related?
Primary Ciliary Dyskinesia, DNAH5-Related is an autosomal recessive disorder that causes recurrent, chronic respiratory tract infections, abnormal placement of the organs, and infertility. Some affected newborns require oxygen following delivery due to respiratory distress. However, the progression and severity of lung disease throughout life varies. Chronic or recurrent ear infections may occur in infancy or young childhood and can result in hearing loss. People with this condition may have abnormal organ placement, called ‘situs inversus totalis’ (mirror-image reversal of the organs in the chest and abdomen; for example, the heart is on the right instead of the left). Affected males have infertility.
What causes Primary Ciliary Dyskinesia, DNAH5-Related?
Primary Ciliary Dyskinesia, DNAH5-Related is caused by a gene change, or mutation, in both copies of the DNAH5 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the DNAH5 genes is important in helping to make cilia (the hair-like structures on cells). Coordinated movement of cilia is necessary for many parts of the body to develop and work properly. When both copies of the DNAH5 gene do not work correctly, it leads to the symptoms described above. |
Primary Ciliary Dyskinesia, DNAH5-Related
|
DNAH5 (NM_001369.2) |
Ashkenazi Jewish |
1 in 174 |
1 in 17301 |
99% |
|
General population |
1 in 120 |
1 in 11901 |
99% |
|
Primary Ciliary Dyskinesia, DNAI1-Related
|
DNAI1 (NM_012144.3) |
Ashkenazi Jewish |
1 in 352 |
1 in 35101 |
99% |
|
General population |
1 in 182 |
1 in 18101 |
99% |
|
Primary Ciliary Dyskinesia, DNAI1-Related
|
DNAI1 (NM_012144.3 |
Ashkenazi Jewish |
1 in 352 |
1 in 7021 |
>95% |
|
General population |
1 in 182 |
1 in 3621 |
>95% |
What is Primary Ciliary Dyskinesia, DNAI1-Related?
Primary Ciliary Dyskinesia, DNAI1-Related is an autosomal recessive disorder that causes recurrent, chronic respiratory tract infections, abnormal placement of the organs, and infertility. Some affected newborns may require oxygen following delivery due to respiratory distress. However, the progression and severity of lung disease throughout life varies. Chronic or recurrent ear infections may occur in infancy or young childhood and can result in hearing loss. People with this condition may have abnormal organ placement, called ‘situs inversus totalis’ (mirror-image reversal of the organs in the chest and abdomen; for example, the heart is on the right instead of the left). Affected males have infertility.
What causes Primary Ciliary Dyskinesia, DNAI1-Related?
Primary Ciliary Dyskinesia, DNAI1-Related is caused by a gene change, or mutation, in both copies of the DNAI1 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the DNAI1 gene pair is important in helping to make cilia (the hair-like structures on cells). Coordinated movement of cilia is necessary for many parts of the body to develop and work properly. When both copies of the DNAI1 gene do not work correctly, it leads to the symptoms described above. |
Primary Ciliary Dyskinesia, DNAI1-Related
|
DNAI1 (NM_012144.3) |
Ashkenazi Jewish |
1 in 352 |
1 in 7021 |
>95% |
|
General population |
1 in 182 |
1 in 3621 |
>95% |
|
Primary Ciliary Dyskinesia, DNAI2-Related
|
DNAI2 (NM_023036.4) |
Ashkenazi Jewish |
1 in 200 |
1 in 3981 |
>95% |
|
General population |
<1 in 500 |
1 in 9981 |
>95% |
|
Primary Ciliary Dyskinesia, DNAI2-Related
|
DNAI2 (NM_ 023036.4) |
Ashkenazi Jewish |
1 in 200 |
1 in 3981 |
>95% |
|
General population |
1 in 500 |
1 in 9981 |
>95% |
What is Primary Ciliary Dyskinesia, DNAI2-Related?
Primary Ciliary Dyskinesia, DNAI2-Related is an autosomal recessive disorder that causes recurrent, chronic respiratory tract infections, abnormal placement of the organs, and infertility. Some affected newborns require oxygen following delivery due to respiratory distress. However, the progression and severity of lung disease throughout life varies. Recurrent ear infections may occur in infancy or young childhood and can result in hearing loss. People with this condition may have abnormal organ placement, called ‘situs inversus totalis’ (mirror-image reversal of the organs in the chest and abdomen; for example, the heart is on the right instead of the left). Affected males have infertility.
What causes Primary Ciliary Dyskinesia, DNAI2-Related?
Primary Ciliary Dyskinesia, DNAI2-Related is caused by a gene change, or mutation, in both copies of the DNAI2 gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the DNAI2 gene pair is important in helping to making cilia (the hair-like structures on cells). Coordinated movement of cilia is necessary for many parts of the body to develop and work properly. When both copies of the DNAI2 gene do not work correctly, it leads to the symptoms described above. |
Primary Ciliary Dyskinesia, DNAI2-Related
|
DNAI2 (NM_023036.5) |
Ashkenazi Jewish |
1 in 200 |
1 in 19901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Primary Ciliary Dyskinesia, Dnah11-Related
|
DNAH11 (NM_001277115.1) |
General population |
1 in 211 |
1 in 21000 |
99% |
|
|
Primary Congenital Glaucoma / Peters Anomaly
|
CYP1B1 (NM_000104.3) |
General population |
1 in 74 |
1 in 7301 |
99% |
|
What is Primary Congenital Glaucoma/Peters Anomaly? Primary Congenital Glaucoma and Peters Anomaly are related inherited disorders that affect the eyes. Primary Congenital Glaucoma causes increased pressure in the eye (glaucoma), which usually starts before 1 year of age, although some children have symptoms that start later but usually before 5 years. The increasing pressure in the eye damages the optic nerves which causes worsening vision loss, and may cause bulging of the eyes, light sensitivity (photophobia) and excess tears. Early treatment with surgery and/or medications may prevent or lessen the vision loss. Peters Anomaly is less common and causes problems in the parts at the front of the eye: the cornea, lens, and iris. Children with Peters Anomaly have corneas that are partially or completely opaque instead of clear, which causes blurred and decreased vision. Some affected children also have lazy eye (amblyopia) and/or eyes that don't point in the same direction (strabismus). Other symptoms seen in some affected children include glaucoma, cataracts, and/or very small eyeballs (microphthalmia). There is no cure for either of these disorders and treatment is based on symptoms. What causes Primary Congenital Glaucoma/Peters Anomaly? Primary Congenital Glaucoma and Peters Anomaly are caused by a gene change, or mutation, in both copies of the CYP1B1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CYP1B1 gene do not work correctly, it leads to the symptoms of one of the two conditions described above. It is sometimes, but not always, possible to tell whether a specific mutation in the CYP1B1 gene will cause Primary Congenital Glaucoma or Peters Anomaly. |
Primary Hyperoxaluria, Type 1
|
AGXT (NM_000030.2) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
|
Primary Hyperoxaluria, Type 1
|
AGXT (NM_ 000030.2) |
General population |
1 in 158 |
1 in 3141 |
>95% |
|
What is Primary Hyperoxaluria, Type 1?
Primary Hyperoxaluria, Type 1 is a rare autosomal recessive disorder that causes the buildup of a substance called calcium oxalate, the main substance found in kidney stones. Too much calcium oxalate in the body can cause kidney stones and may also damage other organs. Most people with Primary Hyperoxaluria, Type 1 develop recurrent kidney stones beginning in late childhood but some have a more severe form of this condition that starts by 6 months of age and some do not show symptoms until early adulthood. Kidney damage worsens over time and can lead to kidney failure. By early adulthood, about half of people with Primary Hyperoxaluria, Type 1 have kidney failure, which is treated with dialysis and then kidney transplantation. Treatment to prevent or reduce the formation of kidney stones includes a special medical diet, supplements, and other oral medications.
What causes Primary Hyperoxaluria, Type 1?
Primary Hyperoxaluria, Type 1 is caused by a gene change, or mutation, in both copies of the AGXT gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene pair do not work correctly, it leads to the symptoms described above. |
Primary Hyperoxaluria, Type 2
|
GRHPR (NM_ 012203.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Primary Hyperoxaluria, Type 2?
Primary Hyperoxaluria, Type 2 is an autosomal recessive disorder that causes the buildup of a substance called calcium oxalate, the main substance found in kidney stones. Too much calcium oxalate in the body can cause kidney stones and may also damage other organs. Most people with Primary Hyperoxaluria, Type 2 develop recurrent kidney stones beginning in childhood; however, the age of onset can vary. Kidney damage worsens over time and can lead to kidney failure, which is treated with dialysis and then kidney transplantation. Treatment to prevent or reduce the formation of kidney stones includes a special medical diet, supplements, and other oral medications.
What causes Primary Hyperoxaluria, Type 2?
Primary Hyperoxaluria, Type 2 is caused by a gene change, or mutation, in both copies of the GRHPR gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Primary Hyperoxaluria, Type 2
|
GRHPR (NM_012203.1) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Primary Hyperoxaluria, Type 3
|
HOGA1 (NM_138413.3) |
General population |
1 in 309 |
1 in 30801 |
99% |
|
|
Primary Hyperoxaluria, Type 3
|
HOGA1 (NM_ 138413.3) |
Ashkenazi Jewish |
unknown |
unknown |
>95% |
|
General population |
1 in 309 |
1 in 6161 |
>95% |
What is Primary Hyperoxaluria, Type 3?
Primary Hyperoxaluria, Type 3 is an autosomal recessive disorder that causes the buildup of a substance called calcium oxalate, the main substance found in kidney stones. Too much calcium oxalate in the body can lead to kidney stones and sometimes damages other organs. Some people with Primary Hyperoxaluria, Type 3 develop kidney stones beginning in childhood, some not until adulthood, and some people never show symptoms. Type 3 is less severe than other forms of Primary Hyperoxaluria (Types 1 and 2). While Primary Hyperoxaluria, Type 3 has not been reported to cause kidney failure, it is a very rare condition and there is little information available about the health of affected adults. Treatment to prevent or reduce the formation of kidney stones includes a special medical diet, supplements, and other oral medications.
What causes Primary Hyperoxaluria, Type 3?
Primary Hyperoxaluria, Type 3 is caused by a gene change, or mutation, in both copies of the HOGA1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Primary Hyperoxaluria, Type I
|
AGXT (NM_000030.2) |
General population |
1 in 158 |
1 in 3141 |
>95% |
|
|
Primary Hyperoxaluria, Type II
|
GRHPR (NM_012203.1) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Primary Hyperoxaluria, Type III
|
HOGA1 (NM_138413.3) |
General population |
1 in 309 |
1 in 6161 |
>95% |
|
|
Primary Microcephaly 1, Autosomal Recessive
|
MCPH1 (NM_024596.3) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
Northern European Caucasian |
1 in 500 |
1 in 49901 |
99% |
What is primary microcephaly 1, autosomal recessive? Primary microcephaly 1, autosomal recessive, is an inherited condition that affects the brain. Babies with this condition are born with a very small brain and skull (microcephaly). Most children with this condition have developmental delays, delays in speech and language skills, and mild to moderate intellectual disability. Some affected children also have short stature and/or seizures. Currently there is no cure for this condition and treatment is based on symptoms. What causes primary microcephaly 1, autosomal recessive? Primary microcephaly 1, autosomal recessive, is caused by gene changes, or mutations, in both copies of the MCPH1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the MCPH1 gene do not work correctly it leads to the symptoms described above. |
Progressive Cerebello-Cerebral Atrophy
|
SEPSECS (NM_016955.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Moroccan, Iraqi |
1 in 41 |
1 in 801 |
>95% |
|
Progressive Early-Onset Encepahlopathy With Brain Atrophy And Thin Corpus Callosum
|
TBCD (NM_005993.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Progressive Familial Intrahepatic Cholestasis, Abcb4-Related
|
ABCB4 (NM_000443.3) |
General population |
1 in 204 |
1 in 20300 |
99% |
|
|
Progressive Familial Intrahepatic Cholestasis, Type 1 (PFIC1)
|
ATP8B1 (NM_005603.5) |
General population |
1 in 53 |
1 in 5201 |
99% |
|
What is Progressive Familial Intrahepatic Cholestasis, Type 1 (PFIC1)? Progressive Familial Intrahepatic Cholestasis, Type 1 (also known as PFIC1) is an inherited disorder that affects the liver. Symptoms of PFIC1 vary from person to person and can be mild or severe. In severe cases, symptoms often start within the first months of life and may include episodes of severe jaundice (yellowing of the skin and whites of the eyes), chronic itching, and progressive liver damage. Other symptoms may include prolonged bleeding, poor absorption of food in the intestines, and poor weight gain. Life span is often reduced in severe cases, although surgery and other treatments may help to prolong survival. Mild PFIC1 (sometimes called Benign Recurrent Intrahepatic Cholestasis) causes repeated episodes of severe itching and jaundice, but liver damage is usually not present. Currently there is no cure for PFIC1 and treatment is based on symptoms. What causes Progressive Familial Intrahepatic Cholestasis (PFIC1)? PFIC1 is caused by a gene change, or mutation, in both copies of the ATP8B1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ATP8B1 gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the ATP8B1 gene will cause mild or severe PFIC1. |
Progressive Familial Intrahepatic Cholestasis, Type 2
|
ABCB11 (NM_ 003742.2) |
General population |
1 in 158 |
1 in 3141 |
>95% |
|
What is Progressive Familial Intrahepatic Cholestasis, Type 2?
Progressive Familial Intrahepatic Cholestasis, Type 2 is an autosomal recessive disorder that causes liver disease that worsens over time. Symptoms typically begin in infancy and include severe itching, yellowing of skin and whites of eyes (jaundice), failure to gain weight and grow at the normal rate, high blood pressure in the vein that supplies blood to the liver, and enlarged liver and spleen. Liver failure often occurs within the first years of life and is usually treated with liver transplantation. People with Progressive Familial Intrahepatic Cholestasis, Type 2 are also at increased risk for liver cancer. Some people have a milder form of this condition which is sometimes called Benign Recurrent Intrahepatic Cholestasis, Type 2. Benign Recurrent Intrahepatic Cholestasis, Type 2 causes episodes of severe itching and jaundice but liver failure is less common. It is sometimes, but not always, possible to determine whether a specific gene change, or mutation, will cause Progressive Familial Intrahepatic Cholestasis, Type 2 or Benign Recurrent Intrahepatic Cholestasis, Type 2.
What causes Progressive Familial Intrahepatic Cholestasis, Type 2?
Progressive Familial Intrahepatic Cholestasis, Type 2 is caused by mutations in both copies of the ABCB11 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ABCB11 gene do not work correctly, bile salts cannot be released by liver cells and they build up in the liver, leading to the symptoms described above. |
Progressive Familial Intrahepatic Cholestasis, Type 2
|
ABCB11 (NM_003742.2) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
|
Progressive Familial Intrahepatic Cholestasis, Type 4 (PFIC4)
|
TJP2 (NM_004817.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Progressive Familial Intrahepatic Cholestasis, Type 4 (PFIC4)? Progressive Familial Intrahepatic Cholestasis, Type 4 (also known as PFIC4) is an inherited disorder that affects the liver. Symptoms of PFIC4 include progressive liver disease that may include jaundice (yellowing of the skin and whites of the eyes), fibrosis (scarring), cirrhosis, liver cancer, and/or liver failure usually starting in early childhood. Liver transplantation is needed by some patients. Currently there is no cure for PFIC4 and treatment is based on symptoms. What causes Progressive Familial Intrahepatic Cholestasis (PFIC4)? PFIC4 is caused by a gene change, or mutation, in both copies of the TJP2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the TJP2 gene do not work correctly, it leads to the symptoms described above. |
Progressive Familial Intrahepatic Cholestasis, Type II
|
ABCB11 (NM_003742.2) |
General population |
1 in 158 |
1 in 3141 |
>95% |
|
|
Progressive Pseudorheumatoid Dysplasia
|
CCN6 (NM_003880.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
PEPD (NM_000285.3) |
General population |
1 in 242 |
1 in 24101 |
99% |
|
What is Prolidase Deficiency? Prolidase Deficiency is an inherited disorder that affects many parts of the body. The severity of symptoms in Prolidase Deficiency varies greatly from person to person. Symptoms typically begin during infancy and include severe respiratory tract infections, chronic and painful skin wounds (ulcers), enlarged spleen and liver, and intellectual disability. Affected children usually have distinct facial features that may include prominent and wide spaced eyes (hypertelorism), high forehead, a flat bridge of the nose, and a very small lower jaw and chin (micrognathia). Recurrent ear and sinus infections, pneumonia, anemia, and digestive tract infections are common. Delayed development is common, and about 75% of people with Prolidase Deficiency have intellectual disability ranging from mild to severe. People with Prolidase Deficiency are prone to skin ulcers, especially on their hands, feet, lower legs, and face. Currently there is no cure for this condition and treatment is based on symptoms. What causes Prolidase Deficiency? Prolidase Deficiency is caused by a gene change, or mutation in both copies of the PEPD gene pair. These mutations cause the genes to not work properly or not work at all. The PEPD gene provides instructions for making the enzyme prolidase. When both copies of the PEPD gene do not work correctly, the body cannot produce enough of the prolidase enzyme and this leads to the symptoms described above. |
Propionic Acidemia, PCCA-Related
|
PCCA (NM_000282.3) |
Asian |
1 in 162 |
1 in 1611 |
90% |
|
Caucasian |
1 in 380 |
1 in 1405 |
73% |
General population |
1 in 224 |
1 in 1488 |
85% |
|
Propionic Acidemia, PCCA-Related
|
PCCA (NM_000282.3) |
Asian |
1 in 162 |
1 in 16101 |
99% |
|
Caucasian |
1 in 380 |
1 in 37901 |
99% |
General population |
1 in 224 |
1 in 22301 |
99% |
|
Propionic Acidemia, PCCA-Related
|
PCCA (NM_ 000282.3) |
Asian |
1 in 162 |
1 in 1611 |
90% |
|
Caucasian |
1 in 380 |
1 in 1405 |
73% |
General population |
1 in 224 |
1 in 1488 |
85% |
What is Propionic Acidemia, PCCA-Related?
Propionic Acidemia, PCCA-Related (also called Propionic Acidemia, alpha subunit or Propionic Acidemia, Type 1) is an autosomal recessive condition that is one of a group of inherited disorders known as Organic Acid Disorders (OAs). People with Propionic Acidemia cannot break down certain components of proteins (amino acids) and fats. This causes organic acids to build up to toxic levels in the blood and body tissues. Symptoms usually appear soon after birth with hypotonia, feeding difficulties, vomiting, and lethargy. If untreated, children with this condition may develop metabolic acidosis leading to seizures, coma, and sometimes death. Long-term effects of Propionic Acidemia, alpha subunit may include developmental delays, learning disabilities or intellectual disability, involuntary movements, rigid muscle tone (spasticity), and heart problems. In rare cases, the symptoms may start later in life and be less severe. The condition can be managed with a medical diet and supplemental therapies; however, even with careful treatment, some children still have episodes of illness and may have life-long intellectual disability and seizures.
What causes Propionic Acidemia, PCCA-Related?
Propionic Acidemia, PCCA-Related is caused by a gene change, or mutation, in both copies of the PCCA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Propionic Acidemia, PCCB-Related
|
PCCB (NM_ 000532.4) |
Asian |
1 in 145 |
1 in 2881 |
>95% |
|
Caucasian |
1 in 202 |
1 in 1676 |
88% |
General population |
1 in 224 |
1 in 4461 |
>95% |
What is Propionic Acidemia, PCCB-Related?
Propionic Acidemia, PCCB-Related (also called Propionic Acidemia, beta subunit or Propionic Acidemia, Type 2) is an autosomal recessive condition that is one of a group of inherited disorders known as Organic Acid Disorders (OAs). People with Propionic Acidemia cannot break down certain building blocks of protein (amino acids) and certain fats. When food with protein is eaten, harmful substances build up in the blood and cause damage to the brain along with other serious health problems. Symptoms usually start shortly after birth and may include low muscle tone (hypotonia), poor feeding, vomiting, low energy (lethargy), dehydration, poor growth, breathing problems, low blood sugar (hypoglycemia), and seizures. Without treatment, coma or death may occur. Episodes of the above symptoms are often triggered by eating large amounts of protein, during illness, or after going a long time without food (fasting).
Long-term effects of these episodes may include developmental delays, learning disabilities or intellectual disability, involuntary movements, rigid muscle tone (spasticity), and heart problems. In rare cases, the symptoms may start later in infancy and may be less severe. Treatment includes a medical low-protein diet and formula, specific supplements and medications, and avoidance of fasting. If this condition is treated before symptoms start, children with Propionic Acidemia, PCCB-Related may have normal growth and development. However, even with careful treatment, some children have life-long learning problems or intellectual disability, seizures, and involuntary movements.
What causes Propionic Acidemia, PCCB-Related?
Propionic Acidemia, PCCB-Related is caused by a gene change, or mutation, in both copies of the PCCB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Propionic Acidemia, PCCB-Related
|
PCCB (NM_000532.4) |
Asian |
1 in 145 |
1 in 14401 |
99% |
|
Caucasian |
1 in 202 |
1 in 20101 |
99% |
General population |
1 in 224 |
1 in 22301 |
99% |
|
Propionic Acidemia, PCCB-Related
|
PCCB (NM_000532.4) |
Asian |
1 in 145 |
1 in 2881 |
>95% |
|
Caucasian |
1 in 202 |
1 in 1676 |
88% |
General population |
1 in 224 |
1 in 4461 |
>95% |
|
Prothrombin-Related Thrombophilia
|
F2 (NM_000506.3) |
General population |
1 in 62 |
1 in 6100 |
99% |
|
|
Pseudocholinesterase Deficiency
|
BCHE (NM_000055.3) |
General population |
1 in 53 |
1 in 5201 |
99% |
|
What is Pseudocholinesterase Deficiency? Pseudocholinesterase Deficiency (also known as Succinylcholine Sensitivity or Butyrylcholinesterase Deficiency) is an inherited disorder that causes an affected person to become temporarily paralyzed and stop breathing (apnea) when certain medications are used, especially specific muscle relaxants such as succinylcholine (suxamethonium) and mivacurium, which are typically given as part of anesthesia for surgeries. Affected individuals have no symptoms unless they are given these medications. If the medications that cause the paralysis and apnea are avoided, symptoms will not occur. What causes Pseudocholinesterase Deficiency? Pseudocholinesterase Deficiency is caused by changes, or mutations, in both copies of the BCHE gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the BCHE gene are not working correctly and certain anesthesia medications are given, it leads to the symptoms described above. |
|
ABCC6 (NM_001171.5) |
General population |
1 in 79 |
1 in 7801 |
99% |
|
What is Pseudoxanthoma Elasticum? Pseudoxanthoma Elasticum (PXE) is an inherited condition that causes buildup of calcium and other minerals in the elastic fibers found throughout the body. Elastic fibers are part of the connective tissue that cushions, protects, and holds together other tissues and organs in the body. Buildup of calcium and other minerals can occur in elastic fibers found in the skin, eyes, blood vessels, and sometimes in the digestive tract and other organs. Symptoms of PXE often include yellow bumps (papules) on the skin in areas where folds occur – the neck, armpits, and groin - and vision loss. Less common symptoms may include early narrowing of the arteries (arteriosclerosis), bleeding in the digestive tract, and/or cramps and pain while exercising because of lessened blood flow to the arms and legs (claudication). Intelligence is not affected and most people with Pseudoxanthoma Elasticum have a normal life span. Rarely, mutations in the same gene can cause a related disorder called Generalized Arterial Calcification of Infancy (GACI). GACI causes buildup of calcium in the arteries that starts before birth or in early infancy, leading to heart failure, breathing problems, and buildup of fluid in the body (edema). In some cases, calcium buildup also affects other organs and joints and some affected children develop rickets (softened and weakened bones) and/or hearing loss. Lifespan is typically shortened. Currently, there is no cure for either of these conditions and treatment is based on symptoms. The information below is about Pseudoxanthoma Elasticum, the more common condition. However, GACI, the less common disorder, is inherited in the same manner and has the same reproductive options. What causes Pseudoxanthoma Elasticum? Pseudoxanthoma Elasticum is usually caused by a change, or mutation, in both copies of the ABCC6 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ABCC6 gene are not working correctly, it results in the symptoms of one of the conditions described above. It is sometimes, but not always, possible to determine whether a specific mutation in the ABCC6 gene will cause Pseudoxanthoma Elasticum or GACI. |
Pterin-4 Alpha-Carbinolamine Dehydratase (Pcd) Deficiency
|
PCBD1 (NM_000281.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Pycnodysostosis
|
CTSK (NM_000396.3) |
General population |
1 in 438 |
1 in 8741 |
>95% |
|
|
Pycnodysostosis
|
CTSK (NM_000396.3) |
General population |
1 in 439 |
1 in 43801 |
99% |
|
|
|
CTSK (NM_ 000396.3) |
General population |
1 in 438 |
1 in 8741 |
>95% |
|
What is Pycnodysostosis?
Pycnodysostosis is an autosomal recessive disorder that affects the bones. Signs and symptoms begin at birth and include short stature, fragile bones, repeated bone fractures, abnormal fingernails, curved spine, absent or abnormal collarbone, distinctive facial features, abnormal teeth, and abnormally developed skull and jawbone. Adults are typically less than five feet tall. Currently, there is no cure or specific treatment for this disorder; however, growth hormone replacement may help increase height.
What causes Pycnodysostosis?
Pycnodysostosis is caused by a gene change, or mutation, in both copies of the CTSK gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the CTSK genes is important for bone health. When both copies of the CTSK genes do not work correctly, it leads to the symptoms described above. |
Pyridoxal 5'-Phosphate-Dependent Epilepsy
|
PNPO (NM_018129.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Pyridoxine-Dependent Epilepsy
|
ALDH7A1 (NM_001182.4) |
General population |
1 in 158 |
1 in 15701 |
99% |
|
What is Pyridoxine-Dependent Epilepsy? Pyridoxine-Dependent Epilepsy is an inherited disorder that causes severe seizures often starting in infancy or sometimes even before birth. The seizures typically last a few minutes and cause rigid muscles and sometimes loss of consciousness. Babies and children with this condition may also have problems maintaining normal body temperature, poor muscle tone, developmental delay, and/or learning disabilities. For most affected children, anticonvulsant medications do not appear to lessen the seizures. However, treatment with medical amounts of pyridoxine (vitamin B6) on a daily basis can help to control the seizures. There is currently no cure for Pyridoxine-Dependent Epilepsy. What causes Pyridoxine-Dependent Epilepsy? Pyridoxine-Dependent Epilepsy is caused by a gene change, or mutation in both copies of the ALDH7A1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Pyruvate Carboxylase Deficiency
|
PC (NM_000920.3) |
General population |
1 in 250 |
1 in 24901 |
99% |
|
What is Pyruvate Carboxylase Deficiency? Pyruvate Carboxylase Deficiency is an inherited disorder that causes buildup of toxic chemicals, including as lactic acid, in the blood. High levels of these substances can damage the body's organs and brain. There are three types of Pyruvate Carboxylase Deficiency. Type A has severe symptoms that begin in infancy. Symptoms include developmental delay, vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, difficulty breathing and life-threatening problems. Symptoms tend to happen more often during illness or going long periods without food (fasting). Lifespan is typically shortened for children with Pyruvate Carboxylase Deficiency Type A and death may happen in infancy or early childhood. Pyruvate Carboxylase Deficiency Type B causes life-threatening symptoms that happen shortly after birth. Infants with this form have very high lactic acid levels, a buildup of ammonia in the blood (hyperammonemia), and liver failure. Other symptoms include brain and nervous system problems such as weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Lifespan is shortened in Pyruvate Carboxylase Deficiency Type B and death usually occurs in the first 3 months of life. Pyruvate Carboxylase Deficiency Type C is a milder form that may cause slightly increased levels of lactic acid in the blood and mild developmental delays, but has a much lower chance of brain and nervous system symptoms. Currently there is no cure for Pyruvate Carboxylase Deficiency and treatment is based on symptoms. What causes Pyruvate Carboxylase Deficiency? Pyruvate Carboxylase Deficiency is caused by a change, or mutation, in both copies of the PC gene. These mutations cause the genes to not work properly or not work at all. When both copies of the PC gene pair do not work correctly, it results in the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the PC gene will cause Pyruvate Carboxylase Deficiency Type A, B, or C. |
Pyruvate Dehydrogenase Deficiency, PDHA1-Related, X-Linked
|
PDHA1 (NM_000284.3) |
General population |
< 1 in 750000 |
1 in 1000000 |
94% |
|
|
Pyruvate Dehydrogenase Deficiency, PDHB-Related
|
PDHB (NM_000925.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Pyruvate Dehydrogenase Deficiency, PDHB-Related
|
PDHB (NM_000925.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Pyruvate Dehydrogenase Deficiency, PDHB-Related
|
PDHB (NM_ 000925.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Pyruvate Dehydrogenase Deficiency, PDHB-Related?
Pyruvate Dehydrogenase Deficiency, PDHB-Related is a rare autosomal recessive disorder that causes lactic acid to build up in the body. Too much lactic acid in the blood is toxic and lead to problems with movement and brain function as well as episodes of nausea, vomiting, breathing problems, and abnormal heartbeat. Signs and symptoms usually begin sometime between birth and early childhood, vary from person to person, and range from mild to severe. In addition to the above episodes, symptoms may include poor coordination and unsteadiness, poor muscle control, and intellectual disability that worsen over time. Some people with this condition also have physical differences including brain abnormalities, facial changes, small hands and feet, and short lower limbs. In the most severe cases, a baby shows symptoms before or shortly after birth and early death occurs. Currently there is no cure for this condition. Treatment may include daily supplements to attempt to lessen the symptoms. Lifespan is usually shortened, although children who have symptoms that start later often live into adulthood.
What causes Pyruvate Dehydrogenase Deficiency, PDHB-Related?
Pyruvate Dehydrogenase Deficiency, PDHB-Related is caused by a gene change, or mutation, in both copies of the PDHB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Pyruvate Dehydrogenase Deficiency, X-Linked
|
PDHA1 (NM_ 000284.3) |
General population |
< 1 in 500 |
1 in 8318 |
94% |
|
What is Pyruvate Dehydrogenase Deficiency, X-Linked?
Pyruvate Dehydrogenase Deficiency, X-Linked is a rare X-linked inherited disorder that causes lactic acid to build up in the body. This causes problems with movement and brain function. Symptoms vary from person to person and range from mild to severe. Some people with Pyruvate Dehydrogenase Deficiency, X-Linked have poor coordination and unsteadiness while others have both poor muscle control and intellectual disability that progresses over time. In the most severe cases of Pyruvate Dehydrogenase Deficiency, X-Linked, a baby shows symptoms before or shortly after birth and early death occurs. Some people with Pyruvate Dehydrogenase Deficiency, X-Linked also have physical differences including facial changes, small hands and feet, and short lower limbs. Males with Pyruvate Dehydrogenase Deficiency, X-Linked are more likely to be severely affected and show symptoms as newborns. Females with this disorder typically have milder symptoms that begin after the newborn period. Currently there is no cure for this disorder but treatment with specific supplements may help reduce symptoms in some individuals.
What causes Pyruvate Dehydrogenase Deficiency, X-Linked?
Pyruvate Dehydrogenase Deficiency, X-Linked is caused by a change, or mutation, in the PDHA1 gene. This mutation causes the gene to not work correctly or not work at all, causing the symptoms described above. |
Pyruvate Dehydrogenase Deficiency, X-Linked
|
PDHA1 (NM_000284.3) |
General population |
< 1 in 750000 |
1 in 74999901 |
99% |
|
|
Refsum Disease, PHYH-Related
|
PHYH (NM_006214.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Refsum Disease, PHYH-Related? Refsum Disease, PHYH-Related is an inherited disorder that causes absence of smell and retinitis pigmentosa (gradual vision loss due to buildup of pigment in the retina). Some people with Refsum Disease, PHYH-Related also have abnormalities of the bones in the hands and feet, muscle weakness, coordination and balance problems, hearing loss, ichthyosis (scaly dry skin), and/or heart problems. Intelligence is not affected. Currently there is no cure for this disorder and treatment is based on symptoms. What causes Refsum Disease, PHYH-Related? Refsum Disease, PHYH-Related is caused by a gene change, or mutation, in both copies of the PHYH gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related
|
ATP6V1B1 (NM_001692.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Sephardic Jewish - Syrian |
1 in 140 |
1 in 2781 |
>95% |
|
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related
|
ATP6V1B1 (NM_001692.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Sephardic Jewish - Syrian |
1 in 140 |
1 in 13901 |
99% |
|
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related
|
ATP6V1B1 (NM_001692.3) |
Sephardic Jewish - Syrian |
1 in 140 |
1 in 2781 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Renal Tubular Acidosis and Deafness, ATP6V1B1-Related?
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related is an autosomal recessive disorder that causes kidney problems and hearing loss. In this condition, the kidneys cannot clear the body of certain waste products, leading to a buildup of acidic substances in the blood. As a result, the blood becomes too acidic causing a condition known as metabolic acidosis. Symptoms of metabolic acidosis include dehydration, nausea, and vomiting. Over time this disorder can lead to growth delay, kidney stones, and weakened bones (rickets). Hearing loss usually occurs sometime in childhood or early adulthood and worsens over time. Treatment to reduce the amount of acid in the blood can help lessen some of the symptoms but currently there is no cure for this disorder.
What causes Renal Tubular Acidosis and Deafness, ATP6V1B1-Related?
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related is caused by a gene change, or mutation, in both copies of the ATP6V1B1 gene pair. These mutations cause the genes to not work properly or not work at all. The ATP6V1B1 gene is important for the normal function of the kidneys and inner ear. When both copies of the ATP6V1B1 gene do not work correctly, it leads to the symptoms described above. |
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation
|
SLC4A4 (NM_003759.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation? Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation is a rare inherited disorder that affects the brain, kidneys, bones, and eyes. Signs and symptoms typically include intellectual disability, short stature, kidney disease, and eye problems. The kidney problems can lead to the inability of the body to get rid of certain acidic waste substances in the urine, causing them to build up in the blood. This can lead to rickets (soft and weak bones and bowed legs). The eye problems often include glaucoma (increased pressure in the eye), cataracts, and vision loss. Currently there is no cure for this disorder and treatment is based on symptoms. What causes Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation? Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation is caused by gene changes, or mutations, in both copies of the SLC4A4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SLC4A4 gene do not work correctly it leads to the symptoms described above. |
Retinitis Pigmentosa 2
|
RP2 (NM_006915.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Retinitis Pigmentosa 25
|
EYS (NM_001142800.1) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
Caucasian |
1 in 53 |
1 in 187 |
72% |
General population |
1 in 129 |
1 in 1601 |
92% |
Sephardic Jewish - Moroccan |
1 in 42 |
1 in 821 |
>95% |
|
|
EYS (NM_ 001142800.1) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
Caucasian |
1 in 53 |
1 in 187 |
72% |
Sephardic Jewish - Moroccan |
1 in 42 |
1 in 821 |
>95% |
General population |
1 in 129 |
1 in 1601 |
92% |
What is Retinitis Pigmentosa 25?
Retinitis Pigmentosa 25 is autosomal recessive. It is one of a group of inherited eye disorders in which the retina, the area at the back of the eye that allows you to see, gradually stops working. Retinitis Pigmentosa 25 causes progressive vision loss. The age at which symptoms begin and the severity of the condition varies from person to person. The first symptom is usually loss of night vision. Over time, loss of peripheral vision (tunnel vision) develops. Then, loss of central vision occurs. RP affects only the vision. Currently there is no cure or specific treatment to prevent the vision loss.
What causes Retinitis Pigmentosa 25?
Retinitis Pigmentosa can be caused by mutations in one of a number of different genes with different inheritance patterns. Retinitis Pigmentosa 25 is caused by a gene change, or mutation, in both copies of the EYS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it results in the progressive vision loss described above. |
Retinitis Pigmentosa 25
|
EYS (NM_001142800.1) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
99% |
|
Caucasian |
1 in 53 |
1 in 5201 |
99% |
General population |
1 in 129 |
1 in 12801 |
99% |
Sephardic Jewish - Moroccan |
1 in 42 |
1 in 4101 |
99% |
|
Retinitis Pigmentosa 26
|
CERKL (NM_001030311.2) |
General population |
1 in 137 |
1 in 13601 |
99% |
|
Sephardic Jewish - Yemenite |
1 in 24 |
1 in 2301 |
99% |
|
|
CERKL (NM_ 001030311.2) |
Sephardic Jewish - Yemenite |
1 in 24 |
1 in 461 |
>95% |
|
General population |
1 in 137 |
1 in 2721 |
>95% |
What is Retinitis Pigmentosa 26?
Retinitis Pigmentosa 26 is autosomal recessive. It is one of a group of inherited eye disorders in which the retina, the area at the back of the eye that allows you to see, gradually stops working. Retinitis Pigmentosa 26 causes progressive vision loss. The age at which symptoms begin and the severity of the condition varies from person to person. The first symptom is usually loss of night vision. Over time, loss of peripheral vision (tunnel vision) develops. Then, loss of central vision occurs. Retinitis Pigmentosa 26 affects only the vision. Currently there is no cure or specific treatment to prevent the vision loss.
What causes Retinitis Pigmentosa 26?
Retinitis Pigmentosa can be caused by mutations in one of a number of different genes with different inheritance patterns. Retinitis Pigmentosa 26 is caused by a gene change, or mutation, in both copies of the CERKL gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it results in the progressive vision loss described above. |
Retinitis Pigmentosa 26
|
CERKL (NM_001030311.2) |
General population |
1 in 137 |
1 in 2721 |
>95% |
|
Sephardic Jewish - Yemenite |
1 in 24 |
1 in 461 |
>95% |
|
Retinitis Pigmentosa 28
|
FAM161A (NM_032180.2) |
Ashkenazi Jewish |
1 in 214 |
1 in 4261 |
>95% |
|
General population |
1 in 289 |
1 in 5761 |
>95% |
Sephardic Jewish, Libyan, Moroccan, Tunisian, Bulgarian |
1 in 41 |
1 in 801 |
>95% |
|
|
FAM161A (NM_ 032180.2) |
Ashkenazi Jewish |
1 in 214 |
1 in 4261 |
>95% |
|
Sephardic Jewish - Libyan, Moroccan, Tunisian, Bulgarian |
1 in 41 |
1 in 801 |
>95% |
General population |
1 in 289 |
1 in 5761 |
>95% |
What is Retinitis Pigmentosa 28?
Retinitis Pigmentosa 28 is autosomal recessive. It is one of a group of inherited eye disorders in which the retina, the area at the back of the eye that allows you to see, gradually stops working. Retinitis Pigmentosa 28 causes progressive vision loss. The age at which symptoms begin and the severity of the condition varies from person to person. The first symptom is usually loss of night vision. Over time, loss of peripheral vision (tunnel vision) develops. Then, loss of central vision occurs. Retinitis Pigmentosa 28 affects only the vision. Currently there is no cure or specific treatment to prevent the vision loss.
What causes Retinitis Pigmentosa 28?
Retinitis Pigmentosa can be caused by mutations in one of a number of different genes with different inheritance patterns. Retinitis Pigmentosa 28 is caused by a gene change, or mutation, in both copies of the FAM161A gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it results in the progressive vision loss described above. |
Retinitis Pigmentosa 28
|
FAM161A (NM_001201543.1) |
Ashkenazi Jewish |
1 in 214 |
1 in 21301 |
99% |
|
General population |
1 in 289 |
1 in 28801 |
99% |
Sephardic Jewish, Libyan, Moroccan, Tunisian, Bulgarian |
1 in 41 |
1 in 4001 |
99% |
|
Retinitis Pigmentosa 36
|
PRCD (NM_001077620.2) |
General population |
1 in 296 |
1 in 29500 |
99% |
|
|
Retinitis Pigmentosa 59
|
DHDDS (NM_001243564.1) |
Ashkenazi Jewish |
1 in 333 |
1 in 11601 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Retinitis Pigmentosa 59
|
DHDDS (NM_024887.3) |
Ashkenazi Jewish |
1 in 333 |
1 in 11601 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
DHDDS (NM_ 001243564.1) |
Ashkenazi Jewish |
1 in 117 |
1 in 2321 |
>95% |
|
General population |
< 1 in 500 |
1 in 9900 |
>95% |
What is Retinitis Pigmentosa 59?
Retinitis Pigmentosa 59 is autosomal recessive. It is one of a group of inherited eye disorders in which the retina, the area at the back of the eye that allows you to see, gradually stops working. Retinitis Pigmentosa 59 causes progressive vision loss. The age at which symptoms begin and the severity of the condition varies from person to person. The first symptom is usually loss of night vision. Over time, loss of peripheral vision (tunnel vision) develops. Then, loss of central vision occurs. Retinitis Pigmentosa 59 affects only the vision. Currently there is no cure or specific treatment to prevent the vision loss.
What causes Retinitis Pigmentosa 59?
Retinitis Pigmentosa can be caused by mutations in one of a number of different genes with different inheritance patterns. Retinitis Pigmentosa 59 is caused by a gene change, or mutation, in both copies of the DHDDS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it results in the progressive vision loss described above. |
Retinitis Pigmentosa 59
|
DHDDS (NM_024887.3) |
Ashkenazi Jewish |
1 in 117 |
1 in 2321 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Retinitis Pigmentosa 62
|
MAK (NM_001242957.2) |
General population |
1 in 274 |
1 in 27300 |
99% |
|
|
Retinitis Pigmentosa, X-Linked, RPGR-Related
|
RPGR (NM_001034853.2) |
General population |
1 in 750000 |
1 in 74999901 |
99% |
|
What is retinitis pigmentosa, X-linked, RPGR-related? Retinitis pigmentosa, X-linked, RPGR-related (also called RP3) is an inherited eye condition that affects mainly males. The retina, the area at the back of the eye that allows you to see, gradually stops working. This leads to progressive vision loss. The age at which symptoms begin and the severity of the vision loss varies from person to person. The first symptom is usually loss of night vision. Over time, loss of peripheral vision (called tunnel vision) develops. Then, loss of central vision occurs. RP affects only the vision although some affected males have a form of RP3 that also includes recurrent sinus and respiratory infections and sometimes chronic ear infections and mild-to-moderate hearing loss. Currently there is no cure or specific treatment to prevent vision loss. Occasionally, a mutation in the same gene will cause a related eye condition called cone-rod dystrophy, X-linked 1 instead of RP3. Cone-rod dystrophy, X-linked 1 has symptoms that vary from person to person and typically start with decreased sharpness of vision (loss of visual acuity), near-sightedness, light sensitivity (photophobia), and loss of color vision. As the condition worsens, affected males may develop involuntary eye movements (fine nystagmus), loss of night vision, central blind spots and gradual loss of side (peripheral) vision. What causes retinitis pigmentosa, X-linked, RPGR-related (RP3)? RP3 is caused by a change, or mutation, in the RPGR gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the RPGR gene will cause RP3, RP with the additional sinus and respiratory symptoms, or cone-rod dystrophy, X-linked 1. |
Rhizomelic Chondrodysplasia Punctata, Type 1
|
PEX7 (NM_000288.3) |
Caucasian |
1 in 158 |
1 in 3141 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Rhizomelic Chondrodysplasia Punctata, Type 1
|
PEX7 (NM_000288.4) |
Caucasian |
1 in 158 |
1 in 3141 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Rhizomelic Chondrodysplasia Punctata, Type 1?
Rhizomelic Chondrodysplasia Punctata, Type 1 is an autosomal recessive disorder that causes severe problems with bone growth (dwarfism) which are present at birth. Other symptoms include distinct facial features, severe intellectual disability, developmental delay, and breathing problems. Many children born with this disorder die before age two.
Rarely, specific mutations in the same gene cause a different inherited condition called Refsum Disease 2. Signs and symptoms of Refsum Disease 2 include absence of smell and retinitis pigmentosa (gradual vision loss due to buildup of pigment in the retina). Some people with Refsum Disease 2 also have abnormalities of the bones in the hands and feet, muscle weakness, coordination and balance problems, hearing loss, ichthyosis (scaly dry skin), and heart problems. Intelligence is not affected.
What causes Rhizomelic Chondrodysplasia Punctata, Type 1?
Rhizomelic Chondrodysplasia Punctata, Type 1 is caused by a gene change, or mutation, in both copies of the PEX7 gene pair. These mutations cause the genes to not work properly or not work at all. The PEX7 genes help break down different substances stored in the parts of our cells called peroxisomes. When both copies of this gene pair do not work correctly, it causes the buildup of harmful substances in the cells of the body, which leads to the symptoms described above. |
Rhizomelic Chondrodysplasia Punctata, Type 1
|
PEX7 (NM_000288.3) |
Caucasian |
1 in 158 |
1 in 15701 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Rhizomelic Chondrodysplasia Punctata, Type 2
|
GNPAT (NM_014236.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Rhizomelic Chondrodysplasia Punctata, Type 2? Rhizomelic Chondrodysplasia Punctata, Type 2 is an inherited disorder that causes abnormal bone growth that is present at birth. Children with this condition have a type of short stature called dwarfism, where the upper arms and legs are short but the trunk is not. Other signs and symptoms of this disorder include distinct facial features, joint pain and stiffness, developmental delays, severe intellectual disability, cataracts, and sometimes life-threatening breathing problems. There is no cure for this disorder, treatment is based on symptoms, and death often occurs before the age of 10. What causes Rhizomelic Dysplasia Punctata, Type 2? Rhizomelic Chondrodysplasia Punctata, Type 2 is caused by a gene change, or mutation, in both copies of the GNPAT gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Rhizomelic Chondrodysplasia Punctata, Type 3
|
AGPS (NM_003659.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Rhizomelic Chondrodysplasia Punctata, Type 3
|
AGPS (NM_ 003659.3) |
General population |
<1 in 500 |
1 in 7130 |
93% |
|
What is Rhizomelic Chondrodysplasia Punctata, Type 3?
Rhizomelic Chondrodysplasia Punctata, Type 3 (also called Akyl-DHAP Synthase Deficiency) is an autosomal recessive disorder that causes abnormal bone growth which is present at birth. Children with this condition have a type of short stature called dwarfism where the upper arms and legs are short but the trunk is not. Other signs and symptoms of this condition include distinct facial features, joint pain and stiffness, developmental delays, severe intellectual disability, cataracts, and life-threatening breathing problems. There is no cure for this condition and death often occurs before the age of 10.
What causes Rhizomelic Dysplasia Punctata, Type 3?
Rhizomelic Chondrodysplasia Punctata, Type 3 is caused by a gene change, or mutation, in both copies of the AGPS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Rhizomelic Chondrodysplasia Punctata, Type III
|
AGPS (NM_003659.3) |
General population |
<1 in 500 |
1 in 7130 |
93% |
|
|
Riboflavin Responsive Complex 1 Deficiency (Acyl-CoEnzyme Dehydrogenase 9 Deficiency)
|
ACAD9(NM014049.4) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
Rlbp1-Related Retinopathy
|
RLBP1 (NM_000326.4) |
General population |
1 in 296 |
1 in 29500 |
99% |
|
|
Roberts Syndrome
|
ESCO2 (NM_001017420.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
|
ESCO2 (NM_ 001017420.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Roberts Syndrome?
Roberts Syndrome is an autosomal recessive disorder that affects many parts of the body. Signs and symptoms include poor growth (both before and after birth), mild to severe intellectual disability, abnormal knee and elbow joints, and severe birth defects of the bones of the arms, legs, fingers, and toes where the bones and digits may be either shortened or missing. Birth defects of the face can include a cleft lip, cleft palate, small chin, and small head (microcephaly). People with Roberts Syndrome may also have heart, kidney and genital problems. Symptoms vary from person to person and may be mild or severe. Infants with severe symptoms are often either stillborn or die in the newborn period. People with milder symptoms often live into adulthood. There is no cure or specific treatment for this condition.
What causes Roberts Syndrome?
Roberts Syndrome is caused by a change, or mutation, in both copies of the ESCO2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Roberts Syndrome
|
ESCO2 (NM_001017420.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Ryr1-Related Conditions
|
RYR1 (NM_000540.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
SLC26A2-Related Skeletal Dysplasias
|
SLC26A2 (NM_000112.3) |
Finnish |
1 in 50 |
1 in 981 |
>95% |
|
General population |
1 in 158 |
1 in 3141 |
>95% |
|
Salla Disease
|
SLC17A5 (NM_012434.4) |
Canadian Inuit |
1 in 129 |
1 in 12801 |
99% |
|
Finnish |
1 in 100 |
1 in 9901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
Swedish |
1 in 125 |
1 in 12401 |
99% |
|
|
SLC17A5 (NM_ 012434.4) |
Canadian Inuit |
1 in 129 |
1 in 2561 |
>95% |
|
Finnish |
1 in 100 |
1 in 1981 |
>95% |
Swedish |
1 in 125 |
1 in 2481 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Salla Disease?
Salla Disease, one form of Sialic Acid Storage Disease, is an autosomal recessive disorder that mainly affects the nervous system. Most infants with Salla Disease appear normal at birth. Then during infancy signs and symptoms begin to appear including slowly progressing loss of skills, poor muscle tone (hypotonia) that changes with time to tight and stiff muscles (spasticity), seizures, developmental delay, intellectual disability, speech problems, coordination problems (ataxia), and slow involuntary movements (athetosis) of the arms and legs. Although symptoms vary from person to person, about two-thirds of people with Salla Disease are not able to walk. Most people with Salla Disease live into adulthood. Currently there is no cure for this condition and treatment is based on the symptoms.
What causes Salla Disease?
Salla Disease is caused by a gene change, or mutation, in both copies of the SLC17A5 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Salla Disease
|
SLC17A5 (NM_012434.4) |
Canadian Inuit |
1 in 129 |
1 in 2561 |
>95% |
|
Finnish |
1 in 100 |
1 in 1981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
Swedish |
1 in 125 |
1 in 2481 |
>95% |
|
Sandhoff Disease
|
HEXB (NM_000521.3) |
Argentinian Creole |
1 in 26 |
1 in 501 |
>95% |
|
Caucasian |
1 in 235 |
1 in 4681 |
>95% |
General population |
1 in 180 |
1 in 3581 |
>95% |
Metis from Saskatchewan |
1 in 15 |
1 in 281 |
>95% |
|
|
HEXB (NM_ 000521.3) |
Argentinian Creole |
1 in 26 |
1 in 501 |
>95% |
|
Caucasian |
1 in 235 |
1 in 4681 |
>95% |
Metis Nation - Saskatchewan |
1 in 15 |
1 in 281 |
>95% |
General population |
1 in 180 |
1 in 3581 |
>95% |
What is Sandhoff Disease?
Sandhoff Disease is an autosomal recessive disorder that affects the brain and nervous system. Signs and symptoms usually start in the first year of life and include muscle weakness and loss of motor skills (sitting, crawling, and walking). Over time, progressive brain damage, seizures, vision and hearing loss, intellectual disability, and paralysis occur. Death usually occurs in early childhood. In rare cases, symptoms do not begin until the late teenage or adult years. Symptoms of Late-Onset Sandhoff Disease include muscle weakness in the legs and coordination problems, psychiatric illness, and the gradual loss of motor skills that may lead to problems with speech, swallowing, and walking. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Sandhoff Disease?
Sandhoff Disease is caused by a gene change, or mutation, in both copies of the HEXB gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Sandhoff Disease
|
HEXB (NM_000521.3) |
Argentinian Creole |
1 in 64 |
1 in 6301 |
99% |
|
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
99% |
Caucasian |
1 in 235 |
1 in 23401 |
99% |
General population |
1 in 278 |
1 in 27701 |
99% |
|
Schimke Immunoosseous Dysplasia
|
SMARCAL1 (NM_014140.3) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Schimke Immunoosseous Dysplasia
|
SMARCAL1 (NM_ 014140.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Schimke Immunoosseous Dysplasia?
Schimke Immunoosseous Dysplasia is an autosomal recessive disorder that causes abnormalities of the bones and a type of short stature called dwarfism. Signs and symptoms vary from mild to severe and may be present at birth or not until later in childhood. Typical symptoms include flat spine bones (vertebrae) that cause a short trunk and neck, growth delays, kidney disease that worsens to kidney failure, and a weakened immune system leading to repeated infections that can be life-threatening. Infants who show early symptoms often die in early childhood. Children who show later onset typically have milder symptoms can live into adulthood. Adult height usually ranges from three to five feet. Other symptoms may include heart and lung disease, stroke, excessive curvature of the spine, small or unusually shaped teeth, and darkened patches of skin on the back and neck. Currently there is no cure for this condition and lifelong medical care is needed. Treatment is based on the symptoms and may include medications to prevent or treat infections and dialysis or a kidney transplant for kidney failure.
What causes Schimke Immunoosseous Dysplasia?
Schimke Immunoosseous Dysplasia is caused by a gene change, or mutation, in both copies of the SMARCAL1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Schimke Immunoosseous Dysplasia
|
SMARCAL1 (NM_014140.3) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
|
NAGA (NM_000262.3) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is Schindler disease? Schindler disease (also called alpha-N-acetylgalactosaminidase or NAGA deficiency) is an inherited condition that affects the nervous system as well as other parts of the body. There are three forms of this condition. Type 1, the infantile form, has symptoms that start between 8-15 months of age. Babies with type I start to lose skills they have already learned and stop learning new skills. They also develop muscle weakness, poor muscle tone (hypotonia) and spasticity, and involuntary eye movements (nystagmus). Over time, vision loss and seizures may occur. Babies with type 1 usually do not live past childhood. Schindler disease, type 2, (also called Kanzaki disease) is milder and symptoms usually start in adulthood. Most people with type 2 have dark red spots on the skin (angiokeratomas), swelling of the legs (lymphedema), muscle weakness, and loss of sensation in the limbs. Some people with type 2 develop hearing loss and mild intellectual impairment, as well as other symptoms. Schindler disease, type 3, is not as severe as type 1 and symptoms may begin in infancy or childhood. Some children with type 3 have developmental delays, speech and language delays, intellectual disability, and/or seizures. Some have features of autism spectrum disorder, which may include behavior and communication problems and difficulty with social skills. In addition, some have a weak, enlarged heart (cardiomyopathy) and an enlarged liver. Currently there is no cure or specific treatment for any form of this condition. What causes Schindler disease? Schindler disease is caused by a change, or mutation, in both copies of the NAGA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the NAGA gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the NAGA gene will cause Schindler disease, type 1, type 2, or type 3. |
Segawa Syndrome, TH-Related
|
TH (NM_ 000360.3) |
Asian |
1 in 416 |
1 in 8301 |
>95% |
|
Caucasian |
1 in 224 |
1 in 4461 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Segawa Syndrome, TH-Related?
Segawa Syndrome, TH-Related (one form of Tyrosine Hydroxylase [TH] Deficiency) is an autosomal recessive disorder that affects the brain and nervous system. Signs and symptoms usually begin in infancy or early childhood and include coordination problems, tremor, developmental delays, stiff muscles, abnormal body positioning, drooping eyelids (ptosis), and involuntary jerking movements. Other health problems include constipation, gastroesophageal reflux, and problems maintaining normal blood sugar, body temperature, and blood pressure. Some children have more a more severe form of the disorder with intellectual disability and psychiatric disorders. Currently, there is no cure for this condition, although, for some people, treatment with L-Dopa may help reduce the symptoms.
Rarely, specific mutations in the same gene cause less severe form of Tyrosine Hydroxylase Deficiency, TH-Related called Dopa-Responsive Dystonia. Signs and symptoms range from mild to moderate and usually start in childhood with involuntary spasms of the legs, later progressing to the arms and then the rest of the body. Abnormal movements, coordination problems, and sleep disturbance are common. Intellect is not affected. Over time, if Dopa-Responsive Dystonia is not treated, tremor and abnormal repetitive movements similar to those seen in Parkinson disease occur. Treatment with L-Dopa is effective in preventing or reversing the symptoms.
What causes Segawa Syndrome, TH-Related?
Segawa Syndrome, TH-Related is caused by a gene change, or mutation, in both copies of the TH gene pair. These mutations cause the genes to not work properly or not work at all. The TH genes are important for the normal function of the nervous system. When both copies of the TH gene pair do not work properly, it leads to the symptoms described above. |
Segawa Syndrome, TH-Related
|
TH (NM_199292.2) |
Asian |
1 in 416 |
1 in 41501 |
99% |
|
Caucasian |
1 in 224 |
1 in 22301 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Senior-Loken Syndrome 4 / Nephronophthisis 4
|
NPHP4 (NM_015102.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Senior-Loken Syndrome 4/Nephronophthisis 4? Senior-Loken Syndrome 4 and Nephronophthisis 4 are related inherited disorders. Nephronophthisis 4 causes kidney damage and cysts that worsen over time. Symptoms can start in infancy, childhood or adolescence and include excess urine, thirst, and fatigue. Kidney failure usually occurs between 11 and 34 years of age. Once kidney failure occurs, dialysis, and then kidney transplantation is needed. Senior-Loken Syndrome 4 causes the same progressive kidney disease seen in Nephronophthisis 4 along with a type of vision loss called Leber Congenital Amaurosis. The vision problems in Senior-Loken Syndrome include sensitivity to light, abnormal eye movements (nystagmus) and loss of vision. Currently there is no cure for either disorder and treatment is based on symptoms. What causes Senior-Loken Syndrome 4/Nephronophthisis 4? Senior-Loken Syndrome 4 and Nephronophthisis 4 are caused by a gene change, or mutation, in both copies of the NPHP4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the NPHP4 gene pair do not work correctly, it leads to the symptoms of one of the two conditions described above. It is sometimes, but not always, possible to tell whether a specific mutation in the NPHP4 gene will cause Senior-Loken Syndrome or Nephronophthisis 4. |
Sepiapterin Reductase Deficiency
|
SPR (NM_003124.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Severe Combined Immunodeficiency (Scid), Cd3D-Related
|
CD3D (NM_000732.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Severe Combined Immunodeficiency (Scid), Cd3E-Related
|
CD3E (NM_000733.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Severe Combined Immunodeficiency (Scid), Foxn1-Related
|
FOXN1 (NM_003593.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Severe Combined Immunodeficiency (Scid), Ikbkb-Related
|
IKBKB (NM_001556.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Severe Combined Immunodeficiency (Scid), Il7R-Related
|
IL7R (NM_002185.3) |
General population |
1 in 348 |
1 in 34700 |
99% |
|
|
Severe Combined Immunodeficiency (Scid), Jak3-Related
|
JAK3 (NM_000215.3) |
General population |
1 in 455 |
1 in 45400 |
99% |
|
|
Severe Combined Immunodeficiency (Scid), Ptprc-Related
|
PTPRC (NM_002838.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Severe Combined Immunodeficiency, ADA-Related
|
ADA (NM_000022.3) |
General population |
1 in 224 |
1 in 22301 |
99% |
|
|
Severe Combined Immunodeficiency, ADA-Related
|
ADA (NM_ 000022.2) |
General population |
1 in 337 |
1 in 6721 |
>95% |
|
What is Severe Combined Immunodeficiency, ADA-Related?
Severe Combined Immunodeficiency (SCID) refers to a group of inherited disorders of the immune system. Severe Combined Immunodeficiency, ADA-Related (also called Adenosine Deaminase Deficiency) is an autosomal recessive form of SCID in which the body cannot fight infections caused by bacteria, viruses, and fungi. Signs and symptoms of Severe Combined Immunodeficiency, ADA-Related usually start between six months and one year of age and include repeated long-lasting infections that can be life-threatening, poor growth, diarrhea, and itchy skin rashes. Occasionally, children with this condition have abnormalities of the ribs, liver, and nervous system and may have hearing loss. Without treatment, most children die before the age of two. Some children do not show symptoms until after one year of age and have fewer infections that are less severe. Treatment includes medications to treat the infections and increase immune system function. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Severe Combined Immunodeficiency, ADA-Related?
Severe Combined Immunodeficiency, ADA-Related is caused by a change, or mutation, in both copies of the ADA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Severe Combined Immunodeficiency, IL2RG-Related, X-Linked
|
IL2RG (NM_000206.2) |
General population |
1 in 38000 |
1 in 760000 |
>95% |
|
|
Severe Combined Immunodeficiency, RAG1-Related
|
RAG1 (NM_000448.2) |
General population |
1 in 245 |
1 in 24401 |
99% |
|
What is Severe Combined Immunodeficiency, RAG1-Related? Severe Combined Immunodeficiency (SCID), RAG1-Related (also called Omenn Syndrome, RAG1-Related) is one of a group of inherited disorders affecting the immune system. People with SCID, RAG1-Related have immune system problems that prevent their body from fighting off infections. Signs and symptoms begin in infancy and include life-threatening infections, failure to grow and gain weight at the expected rate, severe reddened and peeling skin, chronic diarrhea, and enlarged liver and spleen. Infants and children with this condition often die young. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. Rarely, mutations in the same gene pair that cause SCID, RAG1-Related cause a related type of SCID, either Combined Cellular and Humoral Immune Defects with Granulomas or a more severe type of SCID called SCID T negative, B negative, NK positive. It is sometimes, but not always, possible to determine which form of SCID a specific gene mutation will cause. The information below is about SCID, RAG1-Related, the most common condition. However, the other rare types of SCID caused by mutations in the same gene are inherited in the same manner and have the same reproductive options as SCID, RAG1-Related. What causes SCID, RAG1-Related? SCID, RAG1-Related is caused by a gene change, or mutation, in both copies of the RAG1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the RAG1 gene do not work properly, it leads to the symptoms described above. |
Severe Combined Immunodeficiency, Type Athabaskan
|
DCLRE1C (NM_001033855.1) |
Navajo and Apache Native Americans |
1 in 48 |
1 in 941 |
>95% |
|
General population |
< 1 in 500 |
1 in 2627 |
81% |
What is Severe Combined Immunodeficiency, Type Athabaskan?
Severe Combined Immunodeficiency (SCID) refers to a group of inherited disorders of the immune system. Severe Combined Immunodeficiency, Type Athabaskan is an autosomal recessive form of SCID that occurs more often in the Athabaskan-speaking Native American population. Signs and symptoms of Severe Combined Immunodeficiency, Type Athabaskan usually start between three and six months of age and include chronic infections and sensitivity to ionizing radiation (the type found in X-rays). Children with Severe Combined Immunodeficiency, Type Athabaskan have immune systems that cannot fight off infections. They typically have repeated infections that are hard to treat and can be life-threatening. Infants with this condition may have chronic diarrhea, skin rashes, and slow growth. Without treatment, the condition can be fatal. Treatment includes medications to treat the infections and increase immune system function. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
Rarely, mutations in the same pair of genes that cause Severe Combined Immunodeficiency, Type Athabaskan instead cause a related type of SCID called Omenn Syndrome. Symptoms of Omenn Syndrome are similar to Severe Combined Immunodeficiency, Type Athabaskan, but also include severe reddened and peeling skin and enlarged liver and spleen.
What causes Severe Combined Immunodeficiency, Type Athabaskan?
Severe Combined Immunodeficiency, Type Athabaskan is caused by a change, or mutation, in both copies of the DCLRE1C gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Severe Combined Immunodeficiency, Type Athabaskan
|
DCLRE1C (NM_001033855.2) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Navajo and Apache Native Americans |
1 in 10 |
1 in 901 |
99% |
|
Severe Combined Immunodeficiency, X-Linked
|
IL2RG (NM_000206.2) |
General population |
1 in 38000 |
1 in 3799901 |
99% |
|
|
Severe Combined Immunodeficiency, X-Linked
|
IL2RG (NM_ 000206.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Severe Combined Immunodeficiency, X-Linked (XSCID)?
Severe Combined Immunodeficiency, X-Linked (XSCID) is an X-linked inherited disorder of the immune system that affects males more often than females. Signs and symptoms in affected males begin in infancy. Frequent bacterial, viral or fungal infections that do not respond well to treatment are common. These infections can cause life-threatening problems. Boys with XSCID also have failure to grow at the normal rate, absent tonsils and lymph nodes, gastrointestinal malabsorption (failure of the GI tract to absorb certain nutrients from food) and short stature. Treatment typically includes medications to treat infection and increase immune system function. In many cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Severe Combined Immunodeficiency, X-Linked (XSCID)?
Severe Combined Immunodeficiency, X-Linked (XSCID) is caused by a change, or mutation, in the IL2RG gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to the symptoms described above. |
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly
|
DYNC2H1 (NM_001080463.1) |
General population |
1 in 1000 |
1 in 99901 |
99% |
|
East Asian |
1 in 1000 |
1 in 99901 |
99% |
What is short-rib thoracic dysplasia 3 with or without polydactyly? Short-rib thoracic dysplasia 3 with or without polydactyly (also called asphyxiating thoracic dystrophy) is an inherited condition that causes abnormal growth of the ribs and the bones of the arms and legs. Infants with this condition are often born with a small chest and short ribs that do not expand well, which can lead to life-threatening breathing problems. Some babies with this condition will die in infancy or within the first few years of life. Shortened bones of the upper arms and legs are common. Some affected children also have extra fingers and/or toes (polydactyly), and, although rare, some may have other birth defects. There is no cure for this condition, although careful medical treatment is important for infants with breathing problems. Clinical trials involving potential new treatments for these conditions may be available (see www.clinicaltrials.gov). What causes short-rib thoracic dysplasia 3 with or without polydactyly? Short-rib thoracic dysplasia 3 with or without polydactyly is caused by a gene change, or mutation, in both copies of the DYNC2H1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine how severe the condition will be in a baby based on the specific mutations in the DYNC2H1 gene that the parents carry. |
Shwachman-Diamond Syndrome, SBDS-Related
|
SBDS (NM_016038.3) |
General population |
1 in 145 |
1 in 14401 |
99% |
|
What is Shwachman-Diamond Syndrome, SBDS-Related? Shwachman-Diamond Syndrome, SBDS-Related is an inherited disorder that affects the bones, the bone marrow, and the pancreas. Bone abnormalities are commonly seen in the hips and knees and sometimes include short ribs and narrow rib cage, which can lead to serious breathing problems. Affected individuals have slow bone growth and short stature. The bone marrow problems in Shwachman-Diamond Syndrome, SBDS-Related include lower production of white blood cells that fight infections (called neutropenia), causing an increased numbers of infections. Some affected individuals also have a reduced number of red blood cells, which leads to anemia and less oxygen getting to the cells of the body; and some have a reduced number of platelets, which leads to easy bruising and prolonged bleeding. The bone marrow problems also increase the risk for a type of cancer called Acute Myeloid Leukemia (AML). Individuals with Shwachman-Diamond Syndrome, SBDS-Related do not make enough digestive enzymes in their pancreas (called pancreatic insufficiency) and have trouble digesting their food. If not treated, this causes slow growth, lack of weight gain, and malnutrition. Symptoms sometimes also include problems with the heart, eyes, teeth, skin, and endocrine system. Some affected children have delayed development and speech. Currently there is no cure for this disorder and treatment includes daily supplementation with pancreatic enzymes and doctor-prescribed vitamins along with other medical management based on symptoms. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. What causes Shwachman-Diamond Syndrome, SBDS-Related? Shwachman-Diamond Syndrome, SBDS-Related is caused by changes, or mutations, in both copies of the SBDS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SBDS gene do not work correctly it leads to the symptoms described above. |
|
NEU1 (NM_000434.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Sialidosis? Sialidosis is an inherited disorder that affects the brain and nervous system as well as other organs. There are two forms of this disorder: Sialidosis Type I and Sialidosis Type II. Sialidosis Type I is milder than Type II and signs and symptoms usually start in the teenage years or early 20s. Initial symptoms include problems walking, loss of sharp vision, night blindness, muscle twitches, coordination problems, seizures, and tremors in the legs. Most people with Type I have progression of symptoms and eventually need a wheelchair. Intelligence and lifespan are normal. Sialidosis Type II is more severe and can begin before birth, in infancy, or in childhood. Babies affected before birth often have severe fluid buildup (hydrops fetalis) that often causes stillbirth or death shortly after birth. When symptoms begin in infancy, they can include enlarged liver and spleen, abnormalities of the bones and intellectual disability along with seizures and hearing loss. When symptoms begin in childhood, they can include 'coarse' (puffy) facial features, seizures, intellectual disability, and changes in the bones. Life span may be reduced. Currently, there is no cure or specific treatment for Sialidosis. What causes Sialidosis? Sialidosis is caused by a gene change, or mutation, in both copies of the NEU1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it causes specific toxic substances to build up in the cells of the body, leading to the symptoms described above. It is sometimes, but not always, possible to determine whether a given mutation in the NEU1 gene will cause Type I or Type II Sialidosis. |
Sjogren-Larsson Syndrome
|
ALDH3A2 (NM_000382.2) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Swedish |
1 in 205 |
1 in 4081 |
>95% |
|
|
ALDH3A2 (NM_ 000382.2) |
Swedish |
1 in 205 |
1 in 4081 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Sjögren-Larsson Syndrome?
Sjögren-Larsson Syndrome is an autosomal recessive disorder that causes dry, rough, scaly, itchy skin (ichthyosis) along with brain, nerve, and eye problems. The severity and type of symptoms vary from person to person. Most children with this condition are born with the skin problems, have delays in motor skills such as crawling and walking because of abnormal stiffness in the legs and arms (spasticity), have some degree of intellectual disability ranging from mild to severe, and often have speech delays with problems forming words. Many people with Sjögren-Larsson Syndrome need help in walking and some need the use of a wheelchair. Some affected individuals also have seizures, nearsightedness, and increased sensitivity to light (photophobia). Currently there is no cure for this condition and treatment is based on the symptoms.
What causes Sjögren-Larsson Syndrome?
Sjögren-Larsson Syndrome is caused by a gene change, or mutation, in both copies of the ALDH3A2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Sjogren-Larsson Syndrome
|
ALDH3A2 (NM_000382.2) |
General population |
1 in 223 |
1 in 22201 |
99% |
|
Swedish |
1 in 204 |
1 in 20301 |
99% |
|
Smith-Lemli-Opitz Syndrome
|
DHCR7 (NM_001360.2) |
African American |
1 in 93 |
1 in 1841 |
>95% |
|
Ashkenazi Jewish |
1 in 41 |
1 in 801 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 48 |
1 in 941 |
>95% |
General population |
1 in 68 |
1 in 1341 |
>95% |
|
Smith-Lemli-Opitz Syndrome
|
DHCR7 (NM_001360.2) |
African American |
1 in 93 |
1 in 9201 |
99% |
|
Ashkenazi Jewish |
1 in 36 |
1 in 3501 |
99% |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
Caucasian |
1 in 50 |
1 in 4901 |
99% |
General population |
1 in 100 |
1 in 9901 |
99% |
|
Smith-Lemli-Opitz Syndrome
|
DHCR7 (NM_ 001360.2) |
African American |
1 in 93 |
1 in 1841 |
>95% |
|
Ashkenazi Jewish |
1 in 41 |
1 in 801 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 48 |
1 in 941 |
>95% |
General population |
1 in 68 |
1 in 1341 |
>95% |
What is Smith-Lemli-Opitz Syndrome?
Smith-Lemli-Opitz Syndrome is an autosomal recessive disorder that causes slow growth, small head size, moderate-to-severe intellectual disability, heart defects, cleft palate (opening at the roof of the mouth) and other birth defects. Lifespan in children with Smith-Lemli-Opitz Syndrome is shortened and death occurs before age 2 in up to a third of affected children. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Smith-Lemli-Opitz Syndrome?
Smith-Lemli-Opitz Syndrome is caused by a gene change, or mutation, in both copies of the DHCR7 gene pair. These mutations cause the genes to not work properly or not work at all. The function of the DHCR7 genes is to help produce cholesterol. When there are mutations in both copies of the DHCR7 gene, body cells do not make enough cholesterol and toxic chemicals build up in the blood, nervous system, and other tissues and cause the symptoms described above. Increasing dietary cholesterol cannot cure Smith-Lemli-Opitz Syndrome and has not been proven to be helpful in improving symptoms. |
Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
|
SACS (NM_014363.5) |
Caucasian |
1 in 450 |
1 in 8981 |
>95% |
|
French Canadian - Charlevoix-Saguenay |
1 in 21 |
1 in 401 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Spastic Paraplegia, Type 15
|
ZFYVE26 (NM_015346.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Spastic Paraplegia, Type 15? Spastic Paraplegia, Type 15 (also called Kjellin Syndrome) is an inherited disorder that affects the brain, nervous system, and muscles. Signs and symptoms typically begin in childhood or the teen years and include weak muscle tone (hypotonia), and tightness (spasticity) and weakness of the leg muscles that worsens over time, leading to problems walking. Some affected children also have intellectual disability, hearing loss, vision loss, tremors in the hands, slurred speech, seizures, and/or peripheral neuropathy (numbness and pain in the limbs). Currently there is no cure for this disorder and treatment is based on symptoms. What causes Spastic Paraplegia, Type 15? Spastic Paraplegia, Type 15 is caused by gene changes, or mutations, in both copies of the ZFYVE26 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ZFYVE26 gene do not work correctly it leads to the symptoms described above. |
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)
|
SLC1A4 (NM_003038.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)? Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) is an inherited disorder that affects the brain. Signs and symptoms begin in infancy and include small head and brain (microcephaly) with a thinner than normal connection between the two halves of the brain (corpus callosum), severe developmental delays and intellectual disability, seizures, and tight muscles in the limbs (spastic tetraplegia). Most affected children do not develop speech and aren't able to walk on their own. Currently there is no cure or specific treatment for this condition. What causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)? SPATCCM is caused by gene changes, or mutations, in both copies of the SLC1A4 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the SLC1A4 gene do not work correctly it leads to the symptoms described above. |
Spg11-Related Conditions
|
SPG11 (NM_025137.3) |
General population |
1 in 141 |
1 in 14000 |
99% |
|
|
Spinal Muscular Atrophy
|
SMN1 (NM_000344.3) |
African American |
1 in 66 |
2 copies (snp absent) 1 in 396; 3 or more copies 1 in 3000 |
> 71% |
|
Ashkenazi Jewish |
1 in 41 |
2 copies (snp absent) 1 in 580; 3 or more copies 1 in 4000 |
94% |
Asian |
1 in 53 |
2 copies (snp absent) 1 in 702; 3 or more copies 1 in 5000 |
93% |
Caucasian |
1 in 35 |
2 copies (snp absent) 1 in 769; 3 or more copies 1 in 3500 |
> 95% |
General population |
1 in 54 |
1/589 (2 copy) |
91% |
Hispanic |
1 in 117 |
2 copies (snp absent) 1 in 1762; 3 or more copies 1 in 11000 |
>91% |
|
|
SMN1 (NM_ 000344.3) |
African American |
1 in 66 |
2 copies (snp absent) 1 in 396; 3 or more copies 1 in 3000 |
> 71% |
|
Ashkenazi Jewish |
1 in 41 |
2 copies (snp absent) 1 in 580; 3 or more copies 1 in 4000 |
94% |
Asian |
1 in 53 |
2 copies (snp absent) 1 in 702; 3 or more copies 1 in 5000 |
93% |
Caucasian |
1 in 35 |
2 copies (snp absent) 1 in 769; 3 or more copies 1 in 3500 |
> 95% |
Hispanic |
1 in 117 |
2 copies (snp absent) 1 in 1762; 3 or more copies 1 in 11000 |
> 91% |
General population |
1 in 54 |
1/589 (2 copy) |
91% |
What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy, also called SMA, is a serious autosomal recessive disorder that typically begins in infancy or childhood and causes worsening muscle weakness, decreased ability to breathe, and loss of motor skills. Most children with Spinal Muscular Atrophy have one of the early-onset forms with symptoms that begin in infancy, with death often occurring before the age of two. Some children have juvenile-onset SMA and develop muscle weakness and other symptoms later in childhood. In rare cases, symptoms do not begin until early adulthood, are less severe, and do not affect lifespan. Currently there is no cure for Spinal Muscular Atrophy, although treatments are available that may lessen some of the symptoms in some patients.
What causes Spinal Muscular Atrophy?
Spinal Muscular Atrophy is caused by a change, or mutation, in both copies of the SMN1 gene pair. These mutations, which often delete part or all of these genes, cause the genes to work improperly or not work at all. When both copies of the SMN1 gene are missing or do not work correctly, it leads to the symptoms described above. |
Spinal Muscular Atrophy
|
SMN1 (NM_000344.3) |
African American |
1 in 66 |
2 copies (snp absent) 1 in 396; 3 or more copies 1 in 3000 |
>71% |
|
Ashkenazi Jewish |
1 in 41 |
2 copies (snp absent) 1 in 580; 3 or more copies 1 in 4000 |
94% |
Asian |
1 in 53 |
2 copies (snp absent) 1 in 702; 3 or more copies 1 in 5000 |
93% |
Caucasian |
1 in 35 |
2 copies (snp absent) 1 in 769; 3 or more copies 1 in 3500 |
>95% |
General population |
1 in 54 |
1 in 589 (2 copy) |
91% |
Hispanic |
1 in 117 |
2 copies (snp absent) 1 in 1762; 3 or more copies 1 in 11000 |
>91% |
|
Spinal Muscular Atrophy With Respiratory Distress Type 1
|
IGHMBP2 (NM_002180.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Spinocerebellar Ataxia, Autosomal Recessive 10
|
ANO10 (NM_018075.5) |
General population |
1 in 93 |
1 in 9201 |
99% |
|
What is spinocerebellar ataxia, autosomal recessive 10? Spinocerebellar ataxia, autosomal recessive 10 (SCAR10), is one of a group of inherited conditions that affect the nervous system as well as other parts of the body. Signs and symptoms of SCAR10 usually begin in adolescence or early adulthood. Most people with this condition have ataxia (problems with coordination, balance, walking, and movements of the arms and legs). Speech difficulties and repetitive eye movements (nystagmus) are also common. Imaging of the brain often shows shrinkage of the cerebellum, the part of the brain that controls movement patterns. Currently there is no cure for SCAR10 and treatment is based on symptoms. What causes spinocerebellar ataxia, autosomal recessive 10 (SCAR10)? SCAR10 is caused by a change, or mutation, in both copies of the ANO10 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ANO10 gene do not work correctly, it leads to the symptoms described above. |
Spinocerebellar Ataxia, Autosomal Recessive 12
|
WWOX (NM_016373.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Spinocerebellar Ataxia, Autosomal Recessive 12? Spinocerebellar Ataxia, Autosomal Recessive 12 (SCAR12) is one of a group of inherited disorders that affect the nervous system as well as other parts of the body. Signs and symptoms of Spinocerebellar Ataxia, Autosomal Recessive 12 typically begin in infancy with epileptic seizures and developmental delays. Over time, affected children develop cerebellar ataxia, a movement disorder that causes problems with coordination and balance and difficulty walking. Some affected children also have stiff leg muscles (spasticity), intellectual disability, slurred speech, and/or abnormal eye movements (nystagmus). Less commonly, mutations in the same gene cause a different inherited disorder called Early Infantile Epileptic Encephalopathy 28 (EIEE28). Signs and symptoms of EIEE28 typically begin in infancy and include small head and brain (microcephaly), severe developmental delays, hard-to-control seizures, and growth delays. Other symptoms may include abnormal movements, overactive reflexes (hyperreflexia), and vision loss. Life span is typically shortened. Currently there is no cure for either disorder and treatment is based on symptoms. The information below addresses Spinocerebellar Ataxia, Autosomal Recessive 12, the most common disorder. However, EIEE28 is inherited in the same manner and has the same reproductive options as Spinocerebellar Ataxia, Autosomal Recessive 12. What causes Spinocerebellar Ataxia, Autosomal Recessive 12? Spinocerebellar Ataxia, Autosomal Recessive 12 is caused by a change, or mutation, in both copies of the WWOX gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the WWOX gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the WWOX gene will cause Spinocerebellar Ataxia, Autosomal Recessive 12 or EIEE28. |
Spondylocostal Dysostosis 1
|
DLL3 (NM_016941.3) |
General population |
1 in 350 |
1 in 34900 |
99% |
|
|
Spondylothoracic Dysostosis
|
MESP2 (NM_001039958.1) |
General population |
1 in 224 |
1 in 4461 |
>95% |
|
Puerto Rican |
1 in 55 |
1 in 1081 |
>95% |
|
Spondylothoracic Dysostosis, MESP2-Related
|
MESP2 (NM_001039958.1) |
General population |
1 in 224 |
1 in 22301 |
99% |
|
Puerto Rican |
1 in 55 |
1 in 5401 |
99% |
|
Spondylothoracic Dysostosis, MESP2-Related
|
MESP2 (NM_ 001039958.1) |
Puerto Rican |
1 in 55 |
1 in 1081 |
>95% |
|
General population |
1 in 224 |
1 in 4461 |
>95% |
What is Spondylothoracic Dysostosis, MESP2-Related?
Spondylothoracic Dysostosis, MESP2-Related (also known as Jarcho-Levin Syndrome) is an autosomal recessive disorder that causes abnormal growth of the spine and rib bones. Infants with Spondylothoracic Dysostosis, MESP2-Related are often born with a small chest and small fused ribs that do not expand well, which can lead to life-threatening breathing problems. Other signs and symptoms include a short stiff neck, abnormally formed vertebrae causing a shortened spine and trunk, scoliosis, and inguinal and umbilical hernias. Intelligence is not affected. Some babies are born with a similar but rare form of this disorder called Spondylocostal Dysostosis, MESP2-Related, which has the same bone abnormalities and other symptoms but the breathing problems are less severe and lower risk of death in infancy. There is no cure for either form of this disorder although careful medical treatment is important for infants with breathing problems and surgery may be needed for spine problems or hernias.
What causes Spondylothoracic Dysostosis, MESP2-Related?
Spondylothoracic Dysostosis, MESP2-Related is caused by a gene change, or mutation, in both copies of the MESP2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
COL27A1 (NM_032888.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Steel Syndrome? Steel Syndrome is a rare inherited disorder that affects the bones and skeleton. Signs and symptoms are typically either present at birth or begin in early infancy and include dislocation of the hips and elbows, fusion of the bones of the wrist, and curvature of the spine (scoliosis) along with other changes in the backbone, and short stature. Children with Steel Syndrome often have distinctive facial features that may include broad bridge of the nose, wide-spaced eyes, long oval-shaped face, and a prominent forehead. Some affected individuals are born with club foot and some develop very high arches (pes cavus). Intelligence is not affected. Currently there is no cure for this condition and treatment is based on symptoms. What causes Steel Syndrome? Steel Syndrome is caused by a gene change, or mutation, in both copies of the COL27A1 gene pair. These mutations cause the genes to not work properly or not work at all. The COL27A1 genes are important for normal bone formation. When both copies of the COL27A1 gene pair do not work correctly, it leads to the symptoms described above. |
Steroid-Resistant Nephrotic Syndrome
|
NPHS2 (NM_014625.3) |
General population |
1 in 377 |
1 in 7521 |
>95% |
|
|
Steroid-Resistant Nephrotic Syndrome
|
NPHS2 (NM_ 014625.3) |
General population |
1 in 377 |
1 in 7521 |
>95% |
|
What is Steroid-Resistant Nephrotic Syndrome?
Steroid-Resistant Nephrotic Syndrome is an autosomal recessive disorder that causes abnormal kidney function. People with this condition have large amounts of protein in their urine, low amounts of albumin (a protein in the plasma of the blood), high levels of fat in the blood, and excess fluid in body tissues (edema). Symptoms vary from person to person but usually start in childhood. The kidney problems worsen over time, often leading to kidney failure in the teenage years or early adulthood. Once kidney failure occurs, dialysis and then kidney transplantation are needed. Currently there is no cure for this condition and treatment is based on symptoms.
What causes Steroid-Resistant Nephrotic Syndrome?
Steroid-Resistant Nephrotic Syndrome is caused by a gene change, or mutation, in both copies of the NPHS2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Steroid-Resistant Nephrotic Syndrome
|
NPHS2 (NM_014625.3) |
General population |
1 in 377 |
1 in 37601 |
99% |
|
|
Stuve-Wiedemann Syndrome
|
LIFR (NM_002310.5) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
Stuve-Wiedemann Syndrome
|
LIFR (NM_002310.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
|
|
LIFR (NM_ 002310.5) |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
What is Stuve-Wiedemann Syndrome?
Stuve-Wiedemann Syndrome is a rare autosomal recessive disorder that causes severe bone abnormalities. Signs and symptoms are present at birth and include short stature, bowing of the long bones of the arms and legs (campomelia), and flexed fingers and toes (camptodactyly). Babies with this condition have repeated episodes of severe fever (hyperthermia) and breathing problems that can be life-threatening. Infants with Stuve-Wiedemann Syndrome rarely survive. In those that do, scoliosis, bone fractures, joint abnormalities, bowing of limbs, and poor muscle tone (hypotonia) are common. Sleep apnea and feeding and swallowing problems can also occur. Currently there is no cure for this condition and treatment is based on the symptoms.
What causes Stuve-Wiedemann Syndrome?
Stuve-Wiedemann Syndrome is caused by a change, or mutation, in both copies of the LIFR gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly it leads to the symptoms described above. |
Surf1-Related Conditions
|
SURF1 (NM_003172.3) |
General population |
1 in 128 |
1 in 12700 |
99% |
|
|
Surfactant Dysfunction, ABCA3-Related
|
ABCA3 (NM_001089.2) |
General population |
1 in 500 |
1 in 49901 |
99% |
|
What is surfactant dysfunction, ABCA3-related? Surfactant dysfunction, ABCA3-related (also known as ABCA3-related pulmonary fibrosis) is an inherited condition of the lungs that causes breathing problems. Surfactant is a fluid that covers and lubricates the area around the air sacs deep in the lungs, keeping the air sacs open to allow smooth, deep breaths. People with surfactant dysfunction, ABCA3-related, have surfactant that does not work properly. This causes the air sacs in the lungs to stick together and collapse, leading to difficulty breathing and less oxygen getting to the body. The symptoms of this condition vary from person to person. The early-onset form causes serious breathing problems from birth and most babies with this form do not live very long. People with later-onset forms have breathing problems that start in childhood or adulthood and gradually worsen over time, leading to low amounts of oxygen in the blood and poor growth. Currently there is no cure for this condition and treatment is based on symptoms. What causes surfactant dysfunction, ABCA3-related? Surfactant dysfunction, ABCA3-related, is caused by gene changes, or mutations, in the ABCA3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ABCA3 gene pair do not work correctly, it leads to the symptoms described above. |
Tay-Sachs Disease
|
HEXA (NM_000520.4) |
African American |
1 in 271 |
1 in 5401 |
>95% |
|
Ashkenazi Jewish |
1 in 27 |
1 in 521 |
>95% |
Asian |
1 in 126 |
1 in 1390 |
91% |
Caucasian |
1 in 182 |
1 in 3621 |
>95% |
French Canadian - Gaspesie |
1 in 13 |
1 in 241 |
>95% |
French Canadian - Other |
1 in 73 |
1 in 1441 |
>95% |
General population |
1 in 288 |
1 in 5741 |
>95% |
Irish |
1 in 41 |
1 in 801 |
>95% |
Sephardic Jewish - Moroccan, Iraqi |
1 in 125 |
1 in 2481 |
>95% |
|
|
HEXA (NM_ 000520.4) |
African American |
1 in 271 |
1 in 5401 |
>95% |
|
Ashkenazi Jewish |
1 in 27 |
1 in 521 |
>95% |
Asian |
1 in 126 |
1 in 1390 |
91% |
Caucasian |
1 in 182 |
1 in 3621 |
>95% |
French Canadian - Gaspesie |
1 in 13 |
1 in 241 |
>95% |
French Canadian - Other |
1 in 73 |
1 in 1441 |
>95% |
Irish |
1 in 41 |
1 in 801 |
>95% |
Sephardic Jewish - Moroccan, Iraqi |
1 in 125 |
1 in 2481 |
>95% |
General population |
1 in 288 |
1 in 5741 |
>95% |
What is Tay-Sachs Disease?
Tay-Sachs Disease is an autosomal recessive disorder that affects the brain and nervous system with signs and symptoms usually starting in the first year of life. Symptoms include muscle weakness, loss of motor skills such as turning over, sitting, and crawling. Over time, progressive brain damage, seizures, vision and hearing loss, intellectual disability, and paralysis occur. Death usually occurs in early childhood. In rare cases, symptoms do not begin until early adulthood and progress slowly. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual.
What causes Tay-Sachs Disease?
Tay-Sachs Disease is caused by a gene change, or mutation, in both copies of the HEXA gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the HEXA gene do not work correctly, it leads to the symptoms described above. |
Tay-Sachs Disease (DNA only)
|
HEXA (NM_000520.5) |
African American |
1 in 271 |
1 in 27001 |
99% |
|
Ashkenazi Jewish |
1 in 27 |
1 in 2601 |
99% |
Asian |
1 in 126 |
1 in 12501 |
99% |
Caucasian |
1 in 182 |
1 in 18101 |
99% |
French Canadian - Gaspesie |
1 in 13 |
1 in 1201 |
99% |
French Canadian - Other |
1 in 73 |
1 in 7201 |
99% |
General population |
1 in 250 |
1 in 24901 |
99% |
Irish |
1 in 41 |
1 in 4001 |
99% |
Sephardic Jewish - Moroccan, Iraqi |
1 in 125 |
1 in 12401 |
99% |
Old Order Amish |
1 in 3.4 |
1 in 241 |
99% |
|
Tbce-Related Conditions
|
TBCE (NM_003193.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Thiamine-Responsive Megaloblastic Anemia Syndrome
|
SLC19A2 (NM_006996.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Thyroid Dyshormonogenesis 1
|
SLC5A5 (NM_000453.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Thyroid Dyshormonogenesis 2A
|
TPO (NM_000547.5) |
General population |
1 in 129 |
1 in 12800 |
99% |
|
|
Thyroid Dyshormonogenesis 3
|
TG (NM_003235.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Thyroid Dyshormonogenesis 6
|
DUOX2 (NM_014080.4) |
General population |
1 in 55 |
1 in 1092 |
95% |
|
|
Transcobalamin Ii Deficiency
|
TCN2 (NM_000355.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Trichohepatoenteric Syndrome, Skiv2L-Related
|
SKIC2 (NM_006929.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Trichohepatoenteric Syndrome, TTC37-Related
|
TTC37 (NM_014639.3) |
General population |
1 in 381 |
1 in 38001 |
99% |
|
What is Trichohepatoenteric Syndrome, TTC37-Related? Trichohepatoenteric Syndrome, TTC37-Related is an inherited disorder that affects the liver, intestines, and hair along with other parts of the body. The first symptoms include low birth weight, unusual 'woolly' and brittle hair, and episodes of severe watery diarrhea that are hard to treat and often lead to growth problems. Babies and children with this disorder typically also have repeated infections, distinctive facial features, and liver disease. Mild intellectual disability is found in about half of affected children. Some children also have heart defects and/or other health problems. Currently there is no cure for Trichohepatoenteric Syndrome, TTC37-Related and treatment is based on symptoms. What causes Trichohepatoenteric Syndrome, TTC37-Related? Trichohepatoenteric Syndrome, TTC37-Related is caused by changes, or mutations, in both copies of the TTC37 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the TTC37 gene are not working correctly it leads to the symptoms described above. |
Trichothiodystrophy 1 / Xeroderma Pigmentosum, Group D
|
ERCC2 (NM_000400.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Trichothiodystrophy 1 / Xeroderma Pigmentosum, Group D? Trichothiodystrophy 1, also known as TTD1, is an inherited disorder that affects many parts of the body. The signs and symptoms of this condition vary widely. Babies born with this condition are at increased risk of premature birth, low birth weight, and slow growth. Infants with more severe symptoms may have developmental delays, significant intellectual disability, recurrent infections, and may pass away in infancy or early childhood. Children with mild symptoms may only have brittle hair that is sparse and easily broken. Other symptoms found in some affected children include short stature, dry scaly skin, nail abnormalities, congenital cataracts, poor coordination and/or skeletal differences. Although developmental delay and intellectual disability are common, affected children often are highly social and outgoing. About half of affected children are extremely sensitive to ultraviolet rays from sunlight, and many do not sweat normally. Xeroderma Pigmentosum, Group D, also known as XP, Group D, is an inherited disorder that causes extreme sensitivity to ultraviolet rays from sunlight. Signs and symptoms usually being in infancy or early childhood and include severe sunburn with even low levels of sun exposure, freckling of the skin by age 2, dry skin, and changes in skin coloring. Affected individuals are at high risk for skin cancer and most will develop multiple skin cancers during their lifetime, often starting in childhood. They may also have an increased risk of other types of cancer including brain tumors and eye cancer and may have other benign growths on the eye that can impair vision. About a third of affected individuals also have neurologic problems such as hearing loss, movement and coordination problems, loss of intellectual function, and/or seizures. Currently there is no cure for either disorder, treatment is based on symptoms, and life span is often shortened. What causes Trichothiodystrophy 1 / Xeroderma Pigmentosum, Group D? Trichothiodystrophy 1 and Xeroderma Pigmentosum, Group D are caused by a change, or mutation, in both copies of the ERCC2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the ERCC2 gene do not work correctly it leads to the health problems described above. It is sometimes, but not always, possible to tell whether a specific mutation in the ERCC2 gene will cause TTD1 or XP, Group D. |
|
FMO3 (NM_006894.5) |
General population |
1 in 100 |
1 in 9901 |
99% |
|
Northern European Caucasian |
1 in 100 |
1 in 9901 |
99% |
What is trimethylaminuria? Trimethylaminuria is an inherited condition that occurs when an enzyme in the body, called FMO3, is either missing or not working correctly. This causes a chemical called trimethylamine to build up in the body. A person with trimethylaminuria releases excess trimethylamine, which has a strong odor, in their breath, sweat, and urine. The odor is sometimes said to smell like rotten eggs or fish. There are no other symptoms, and people with this condition do not have other health problems because of this condition, although some people have social or emotional difficulties because of the odor. Currently there is no cure for trimethylaminuria but there are treatments that can reduce the odor. Treatments include restriction of certain foods such as milk, eggs, beans, peanuts, cruciferous vegetables, and seafood, along with use of acid soaps and lotions, antibiotics, and supplemental riboflavin. What causes trimethylaminuria? Trimethylaminuria is caused by a gene change, or mutation, in both copies of the FMO3 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
AAAS (NM_015665.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Triple A Syndrome? Triple A Syndrome (Achalasia, Addison disease and Alacrima) is an inherited disorder that affects the autonomic nervous system and other parts of the body. Symptoms vary from person to person but usually include difficulty moving food through the esophagus into the stomach (achalasia), lack of tears (alacrima), and adrenal gland problems resulting in Addison disease. Features of Addison disease include fatigue, weight loss, low blood pressure and bronzing of the skin. Some people with Triple A Syndrome also have problems regulating body temperature and blood pressure, abnormal sweating, developmental delay, cognitive disability, speech problems, muscle weakness, movement problems, and/or thickened skin on the palms and soles. There is currently no cure for Triple A Syndrome and treatment is based on symptoms. What causes Triple A Syndrome? Triple A Syndrome is caused by a gene change, or mutation, in both copies of the AAAS gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Tshr-Related Conditions
|
TSHR (NM_000369.2) |
General population |
1 in 158 |
1 in 15700 |
99% |
|
|
Tyrosine Hydroxylase Deficiency
|
TH (NM_000360.3) |
Asian |
1 in 416 |
1 in 8301 |
>95% |
|
Caucasian |
1 in 224 |
1 in 4461 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Tyrosinemia Type Iii
|
HPD (NM_002150.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
|
FAH (NM_ 000137.2) |
African American |
1 in 478 |
1 in 9541 |
>95% |
|
Ashkenazi Jewish |
1 in 143 |
1 in 2841 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 333 |
1 in 6641 |
>95% |
French Canadian - Saguenay Lac-St. Jean |
1 in 25 |
1 in 481 |
>95% |
French Canadian |
1 in 66 |
1 in 1301 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Tyrosinemia, Type 1?
Tyrosinemia, Type 1 is an autosomal recessive disorder in which the body is unable to break down a building block of protein (amino acid) called tyrosine. This condition causes a harmful buildup of tyrosine and other amino acids and toxins in the body leading serious health problems. The signs and symptoms of untreated Tyrosinemia, Type 1 usually begin in infancy and include diarrhea, bloody stool, vomiting, swollen abdomen, poor weight gain, lethargy (tiredness), irritability, yellowing skin (jaundice), cabbage-like odor, bleeding problems, breathing trouble, and developmental delays. If not treated, Liver and kidney failure as well as nervous system problems can occur.
Babies with Tyrosinemia, Type 1 need lifelong dietary and medical treatments. Early treatment can help prevent the liver, kidney, and brain problems. Children who receive treatment early in life can often have healthy growth and development.
What causes Tyrosinemia, Type 1?
Tyrosinemia, Type 1 is caused by a gene change, or mutation, in both copies of the FAH gene pair. These mutations cause the genes to not work properly or not work at all. The function of the FAH genes is to breakdown tyrosine. When both copies of this gene do not work correctly, it can cause a buildup of toxic substances in the body which leads to the symptoms described above. |
Tyrosinemia, Type 1
|
FAH (NM_000137.2) |
African American |
1 in 478 |
1 in 47701 |
99% |
|
Ashkenazi Jewish |
1 in 150 |
1 in 14901 |
99% |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
Caucasian |
1 in 333 |
1 in 33201 |
99% |
French Canadian - Saguenay Lac-St. Jean |
1 in 25 |
1 in 2401 |
99% |
General population |
1 in 100 |
1 in 9901 |
99% |
French Canadian (Quebec) |
1 in 66 |
1 in 6501 |
99% |
|
|
TAT (NM_000353.2) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Tyrosinemia, Type 2? Tyrosinemia, Type 2 is an inherited disorder in which the body is unable to break down a building block of protein (amino acid) called tyrosine. This condition causes a toxic buildup of tyrosine and other amino acids and toxins in the body leading health problems. The signs and symptoms of usually begin in early childhood and include intellectual disability, painful skin problems on the hands and feet called keratoses, ulcers of the eye, and growth delay. Children with Tyrosinemia, Type 2 need lifelong dietary and medical treatments. What causes Tyrosinemia, Type 2? Tyrosinemia, Type 2 is caused by a gene change, or mutation, in both copies of the TAT gene pair. These mutations cause the genes to not work properly or not work at all. The job of the TAT genes is to breakdown tyrosine. When both copies of this gene do not work correctly, it can cause a buildup of toxic substances in the body, which leads to the symptoms described above. |
Tyrosinemia, Type I
|
FAH (NM_000137.2) |
African American |
1 in 478 |
1 in 9541 |
>95% |
|
Ashkenazi Jewish |
1 in 143 |
1 in 2841 |
>95% |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
Caucasian |
1 in 333 |
1 in 6641 |
>95% |
French Canadian |
1 in 66 |
1 in 1301 |
>95% |
French Canadian - Saguenay Lac-St. Jean |
1 in 25 |
1 in 481 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Usher Syndrome, Type 1B
|
MYO7A (NM_000260.3) |
African American |
< 1 in 500 |
1 in 9981 |
>95% |
|
Asian |
1 in 62 |
1 in 1221 |
>95% |
Caucasian |
1 in 145 |
1 in 2058 |
93% |
General population |
1 in 206 |
1 in 4101 |
>95% |
|
Usher Syndrome, Type 1B
|
MYO7A (NM_000260.3) |
African American |
< 1 in 500 |
1 in 49901 |
99% |
|
Asian |
1 in 62 |
1 in 6101 |
99% |
Caucasian |
1 in 145 |
1 in 14401 |
99% |
General population |
1 in 206 |
1 in 20501 |
99% |
|
|
MYO7A (NM_ 000260.3) |
African American |
< 1 in 500 |
1 in 9981 |
>95% |
|
Asian |
1 in 62 |
1 in 1221 |
>95% |
Caucasian |
1 in 145 |
1 in 2058 |
93% |
General population |
1 in 206 |
1 in 4101 |
>95% |
What is Usher Syndrome, Type 1B?
Usher Syndrome, Type 1B is autosomal recessive. It is one of a group of inherited disorders that cause progressive hearing and vision loss. In most cases of Usher Syndrome, Type 1B, severe hearing loss is present at birth and hearing aids are not usually helpful. Balance is also affected, which leads to a delay in motor skills such as walking. Retinitis Pigmentosa is an eye condition that occurs in most people with Usher Syndrome Type 1B and leads to damage to the retina, causing progressive loss of eyesight and eventual blindness. Retinitis Pigmentosa with vision loss usually starts developing in childhood. Usher Syndrome, Type 1B does not affect intelligence or life span.
The symptoms of Usher Syndrome, Type 1B vary from person to person and some people have less severe (moderate) hearing loss. Other people may have hearing loss only and do not develop Retinitis Pigmentosa. Currently there is no cure for Usher Syndrome, Type 1B.
What causes Usher Syndrome, Type 1B?
Usher Syndrome, Type 1B is caused by a gene change, or mutation, in both copies of the MYO7A gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
USH1C (NM_ 005709.3) |
French Canadian / Acadian |
1 in 227 |
1 in 4521 |
>95% |
|
General population |
1 in 353 |
1 in 7041 |
>95% |
What is Usher Syndrome, Type 1C?
Usher Syndrome, Type 1C is autosomal recessive. It is one of a group of inherited disorders that cause progressive hearing and vision loss. In most cases of Usher Syndrome, Type 1C, severe hearing loss in both ears is present at birth and hearing aids are not usually helpful. Balance is also affected, which leads to delays in motor skills such as walking. Retinitis Pigmentosa is an eye condition that occurs in most people with Usher Syndrome, Type 1C and leads to damage to the retina, causing progressive loss of eyesight. Retinitis Pigmentosa with vision loss often starts in the teenage years but sometimes not until adulthood. Usher Syndrome, Type 1C does not affect intelligence or life span.
The symptoms of Usher Syndrome, Type 1C vary from person to person and some affected individuals have less severe (moderate) hearing loss. Others have hearing loss only and do not develop Retinitis Pigmentosa. Currently there is no cure for Usher Syndrome, Type 1C.
What causes Usher Syndrome, Type 1C?
Usher Syndrome, Type 1C is caused by a gene change, or mutation, in both copies of the USH1C gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Usher Syndrome, Type 1C
|
USH1C (NM_005709.3) |
French Canadian / Acadian |
1 in 227 |
1 in 22601 |
99% |
|
General population |
1 in 353 |
1 in 35201 |
99% |
|
Usher Syndrome, Type 1D
|
CDH23 (NM_022124.5) |
General population |
1 in 202 |
1 in 20101 |
99% |
|
|
Usher Syndrome, Type 1D
|
CDH23 (NM_022124.5) |
General population |
1 in 306 |
1 in 6101 |
>95% |
|
|
|
CDH23 (NM_ 022124.5) |
General population |
1 in 306 |
1 in 6101 |
>95% |
|
What is Usher Syndrome, Type 1D?
Usher Syndrome, Type 1D is autosomal recessive. It is one of a group of inherited disorders that cause progressive hearing and vision loss. In most cases of Usher Syndrome, Type 1D, severe hearing loss is present at birth and hearing aids are not usually helpful. Balance is also affected, which leads to a delay in motor skills such as walking. Retinitis Pigmentosa is an eye condition that occurs in people with Usher Syndrome Type 1D and leads to damage to the retina, causing progressive loss of eyesight and eventual blindness. Retinitis Pigmentosa with vision loss may start developing in childhood or not until adulthood. Usher Syndrome, Type 1D does not affect intelligence or life span.
The symptoms of Usher Syndrome, Type 1D vary from person to person and some affected individuals have less severe (moderate) hearing loss. Others may have hearing loss only and do not develop Retinitis Pigmentosa. Currently there is no cure for Usher Syndrome, Type 1D.
What causes Usher Syndrome, Type 1D?
Usher Syndrome, Type 1D is caused by a gene change, or mutation, in both copies of the CDH23 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
|
PCDH15 (NM_ 001142764.1) |
Ashkenazi Jewish |
1 in 78 |
1 in 1541 |
>95% |
|
General population |
1 in 395 |
1 in 4926 |
92% |
What is Usher Syndrome, Type 1F?
Usher Syndrome, Type 1F is autosomal recessive. It is one of a group of inherited disorders that cause progressive hearing and vision loss. In most cases of Usher Syndrome, Type 1F, severe hearing loss is present at birth and hearing aids are not usually helpful. Balance is also affected, which leads to a delay in motor skills such as walking. Retinitis Pigmentosa is an eye condition that occurs in most people with Usher Syndrome Type 1F and leads to damage to the retina, causing progressive loss of eyesight and eventual blindness. Retinitis Pigmentosa with vision loss typically starts developing in the teenage years or early adulthood. Usher Syndrome, Type 1F does not affect intelligence or life span.
The symptoms of Usher Syndrome, Type 1F vary from person to person and some people have less severe (moderate) hearing loss. Other people may have hearing loss only and do not develop Retinitis Pigmentosa. Currently there is no cure for Usher Syndrome, Type 1F.
What causes Usher Syndrome, Type 1F?
Usher Syndrome, Type 1F is caused by a gene change, or mutation, in both copies of the PCDH15 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Usher Syndrome, Type 1F
|
PCDH15 (NM_033056.3) |
General population |
1 in 395 |
1 in 39401 |
99% |
|
|
Usher Syndrome, Type 1F
|
PCDH15 (NM_001142764.1) |
Ashkenazi Jewish |
1 in 78 |
1 in 1541 |
>95% |
|
General population |
1 in 395 |
1 in 692 |
43% |
|
Usher Syndrome, Type 1F
|
PCDH15 (NM_033056.3) |
Ashkenazi Jewish |
1 in 78 |
1 in 7701 |
99% |
|
|
Usher Syndrome, Type 1J / Deafness, Autosomal Recessive, 48
|
CIB2 (NM_006383.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Usher Syndrome, Type 1J/Deafness, Autosomal Recessive, 48? Usher Syndrome, Type 1J is one of a group of inherited disorders that cause hearing and vision loss that worsens over time. In most cases of Usher Syndrome, Type 1J, severe hearing loss is present at birth and hearing aids are not usually helpful. Balance is also affected, which leads to a delay in motor skills such as walking. Retinitis Pigmentosa (RP) is an eye condition that occurs in most people with Usher Syndrome Type 1J and leads to damage to the retina, causing progressive loss of eyesight and eventual blindness. RP and vision loss start developing in the teenage years or early adulthood. Usher Syndrome, Type 1J does not affect intelligence or life span. The symptoms of Usher Syndrome, Type 1J vary from person to person and some people have less severe (moderate) hearing loss. Some children with mutations in the same gene have a related condition called Deafness, Autosomal Recessive, 48, which causes hearing loss only, without Retinitis Pigmentosa or other symptoms. Currently there is no cure for these conditions and treatment is based on symptoms. What causes Usher Syndrome, Type 1J/Deafness, Autosomal Recessive, 48? Usher Syndrome, Type 1J and Deafness, Autosomal Recessive, 48 are caused by a gene change, or mutation, in both copies of the CIB2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms of one of the two conditions described above. It is sometimes, but not always, possible to determine whether a specific mutation in the CIB2 gene will cause Usher Syndrome, Type 1J or Deafness, Autosomal Recessive, 48. |
|
USH2A (NM_ 206933.2) |
Caucasian |
1 in 73 |
1 in 601 |
88% |
|
Sephardic Jewish - Iraqi, Iranian |
1 in 36 |
1 in 141 |
75% |
General population |
1 in 126 |
1 in 2501 |
>95% |
What is Usher Syndrome, Type 2A?
Usher Syndrome, Type 2A is autosomal recessive. It is one of a group of inherited disorders that cause progressive hearing and vision loss. In most cases of Usher Syndrome, Type 2A, moderate to severe hearing loss is present at birth and affects higher frequencies more than lower frequencies. Speech involves lower frequencies, so speech and understanding language is often possible for children with this condition, although hearing aids and speech therapy are often needed. Retinitis Pigmentosa is an eye condition that occurs in individuals with Usher Syndrome, Type 2A and leads to damage to the retina, causing progressive loss of eyesight. Retinitis Pigmentosa with vision loss usually starts in the teenage years. Usher Syndrome, Type 2A does not affect intelligence or life span. Some individuals with Usher Syndrome, Type 2A have Retinitis Pigmentosa only and do not have hearing loss. Currently there is no cure for this condition.
What causes Usher Syndrome, Type 2A?
Usher Syndrome, Type 2A is caused by a gene change, or mutation, in both copies of the USH2A gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Usher Syndrome, Type 2A
|
USH2A (NM_206933.2) |
Caucasian |
1 in 73 |
1 in 7201 |
99% |
|
General population |
1 in 126 |
1 in 12501 |
99% |
Sephardic Jewish - Iraqi, Iranian |
1 in 36 |
1 in 3501 |
99% |
|
|
ADGRV1 (NM_032119.3) |
General population |
1 in 176 |
1 in 17501 |
99% |
|
What is Usher Syndrome, Type 2C? Usher Syndrome, Type 2C is one of a group of inherited disorders that cause hearing and vision loss that worsens over time. In most cases of Usher Syndrome, Type 2C, moderate to severe hearing loss is present at birth and affects higher frequencies more than lower. Speech involves lower frequencies, so speech and understanding language is often possible for children with this condition, although hearing aids and speech therapy are often needed. Retinitis Pigmentosa (RP) is an eye condition that occurs in people with Usher Syndrome, Type 2C and leads to damage to the retina, causing progressive loss of eyesight. RP and vision loss usually starts in the teenage years. Usher Syndrome, Type 2C does not affect intelligence or life span. Currently there is no cure for this condition and treatment is based on symptoms. What causes Usher Syndrome, Type 2C? Usher Syndrome, Type 2C is caused by a gene change, or mutation, in both copies of the ADGRV1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Usher Syndrome, Type 3
|
CLRN1 (NM_174878.2) |
Ashkenazi Jewish |
1 in 120 |
1 in 11901 |
99% |
|
Finnish |
1 in 70 |
1 in 6901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
|
CLRN1 (NM_ 174878.2) |
Ashkenazi Jewish |
1 in 120 |
1 in 2381 |
>95% |
|
Finnish |
1 in 70 |
1 in 1381 |
>95% |
General population |
1 in 500 |
1 in 9981 |
>95% |
What is Usher Syndrome, Type 3?
Usher Syndrome, Type 3 is autosomal recessive. It is one of a group of inherited disorders that cause progressive hearing and vision loss. People with Usher Syndrome, Type 3 usually start losing their hearing in late childhood or the early teenage years and typically have profound deafness by adulthood. Balance may also be affected, causing problems with walking and coordination. Retinitis Pigmentosa is an eye condition that occurs in most individuals with Usher Syndrome, Type 3 and leads to damage to the retina, causing progressive loss of eyesight starting in childhood or the teenage years. Usher Syndrome, Type 3 does not affect intelligence or life span.
The symptoms of Usher Syndrome, Type 3 vary from person to person and some people have less severe hearing loss. Other people may have hearing loss only and do not develop Retinitis Pigmentosa. Currently there is no cure for this Usher Syndrome, Type 3.
What causes Usher Syndrome, Type 3?
Usher Syndrome, Type 3 is caused by a gene change, or mutation, in both copies of the CLRN1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Usher Syndrome, Type IC
|
USH1C (NM_005709.3) |
French Canadian / Acadian |
1 in 227 |
1 in 4521 |
>95% |
|
General population |
1 in 353 |
1 in 7041 |
>95% |
|
Usher Syndrome, Type IIA
|
USH2A (NM_206933.2) |
Caucasian |
1 in 73 |
1 in 601 |
88% |
|
General population |
1 in 126 |
1 in 2501 |
>95% |
Sephardic Jewish - Iraqi, Iranian |
1 in 36 |
1 in 141 |
75% |
|
Usher Syndrome, Type III
|
CLRN1 (NM_174878.2) |
Ashkenazi Jewish |
1 in 120 |
1 in 2381 |
>95% |
|
Finnish |
1 in 70 |
1 in 1381 |
>95% |
General population |
1 in 500 |
1 in 9981 |
>95% |
|
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
|
ACADVL (NM_000018.3) |
Asian |
1 in 194 |
1 in 2758 |
93% |
|
Caucasian |
1 in 88 |
1 in 1741 |
>95% |
General population |
1 in 146 |
1 in 2901 |
>95% |
|
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
|
ACADVL (NM_ 000018.3) |
Asian |
1 in 194 |
1 in 2758 |
93% |
|
Caucasian |
1 in 88 |
1 in 1741 |
>95% |
General population |
1 in 146 |
1 in 2901 |
>95% |
What is Very Long-Chain Acyl-CoA Dehydrogenase Deficiency?
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency) is an autosomal recessive disorder that prevents the body from breaking down certain fats to energy, particularly during periods of fasting, illness, or exercise. Signs and symptoms can begin anytime between infancy and adulthood. Infants with the most severe form of VLCAD Deficiency develop symptoms in the first few months of life. VLCAD Deficiency causes a thickening of the heart muscle (cardiomyopathy) which causes the heart not to work properly. It can also cause an abnormal heart rhythm and/or fluid around the heart. Infants with VLCAD Deficiency can have poor muscle tone, lack of energy, an enlarged liver, and periods of low blood sugar (hypoglycemia). If not treated, affected infants can die. With early diagnosis and lifelong treatment, infants with VLCAD Deficiency can survive and may have healthy growth and development.
Affected individuals who develop symptoms in childhood may not have heart disease. People with the childhood-onset form typically have low blood sugar, an enlarged liver, and muscle weakness, especially after exercise. Most individuals with VLCAD Deficiency have signs and symptoms that do not begin until adulthood. This milder form typically does not affect the heart and may or may not cause low blood sugar. Individuals with VLCAD Deficiency that begins in adulthood can have muscle cramps and pain, often following exercise. If untreated, the body breaks down muscles and kidney damage can occur. With careful treatment, people with the childhood and adult forms of VLCAD Deficiency can live healthy lives with typical growth and development.
What causes Very Long-Chain Acyl-CoA Dehydrogenase Deficiency?
VLCAD Deficiency is caused by a gene change, or mutation, in both copies of the ACADVL gene pair. These mutations cause the genes to not work properly or not work at all. The function of the ACADVL genes is to help break down fat in the body so that it can be used for energy. When both copies of this gene do not work correctly, the body cannot break down fats which build up and cause the symptoms described above. |
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
|
ACADVL (NM_000018.3) |
Asian |
1 in 194 |
1 in 19301 |
99% |
|
Caucasian |
1 in 88 |
1 in 8701 |
99% |
General population |
1 in 86 |
1 in 8501 |
99% |
|
Vici Syndrome
|
EPG5 (NM_020964.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Vitamin D Dependent Rickets, Type 1A
|
CYP27B1 (NM_000785.3) |
General population |
1 in 22 |
1 in 2101 |
99% |
|
What is Vitamin D-Dependent Rickets, Type 1A? Vitamin D-Dependent Rickets, Type 1A (also known as VDDR1A) is an inherited disorder that causes rickets (softening and weakening of the bones). Signs and symptoms of Vitamin D-Dependent Rickets, Type 1A usually begin in infancy and include delayed growth, bone fractures, bone pain, and bowed legs. Some affected children have tooth problems that may include frequent cavities and/or thin tooth enamel. Other symptoms may include weak muscle tone (hypotonia), and/or seizures. Currently there is no cure for this disorder; however, when started early, medical treatment, including daily supplementation with medical doses of Vitamin D3, may help lessen symptoms. What causes Vitamin D-Dependent Rickets, Type 1A? Vitamin D-Dependent Rickets, Type 1A is caused by changes, or mutations, in both copies of the CYP27B1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CYP27B1 gene are not working correctly, it leads to the symptoms described above. |
Vitamin D-Resistant Rickets Type 2A
|
VDR (NM_001017535.1) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Vldlr-Associated Cerebellar Hypoplasia
|
VLDLR (NM_003383.4) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Walker-Warburg Syndrome, CRPPA-Related
|
ISPD (NM_001101426.3) |
General population |
1 in 371 |
1 in 37001 |
99% |
|
What is Walker-Warburg Syndrome, CRPPA-Related? Walker-Warburg Syndrome, CRPPA-Related is an inherited disorder that affects many parts of the body, especially the brain, eyes, and muscles. Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe brain abnormalities, and eye defects with vision problems. Infants and children with Walker-Warburg Syndrome, CRPPA-Related have worsening muscle weakness, problems with movement and coordination, seizures, and severe developmental delay with intellectual disability. Although symptoms vary from person to person, lifespan is usually shortened with death often occurring in early childhood. Currently, there is no cure or specific treatment for this disorder. Rarely, mutations in the same gene pair cause a related condition called Limb-Girdle Muscular Dystrophy, Type 2U. Limb-Girdle Muscular Dystrophy, Type 2U causes severe muscle weakness in the shoulder and hip areas along with muscle pain during exertion that usually starts in childhood. The information below is about Walker-Warburg Syndrome, CRPPA-Related, the more common condition. However, the inheritance pattern and reproductive options listed below apply to Limb-Girdle Muscular Dystrophy, Type 2U as well. What causes Walker-Warburg Syndrome, CRPPA-Related? Walker-Warburg Syndrome, CRPPA-Related is caused by a change, or mutation, in both copies of the CRPPA (ISPD) gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CRPPA (ISPD) gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the CRPPA (ISPD) gene will cause Walker-Warburg Syndrome, CRPPA-Related or Limb-Girdle Muscular Dystrophy, Type 2U. |
Walker-Warburg Syndrome, FKTN-Related
|
FKTN (NM_001079802.1) |
Ashkenazi Jewish |
1 in 80 |
1 in 1581 |
>95% |
|
General population |
< 1 in 500 |
1 in 625 |
20% |
Japanese |
1 in 188 |
1 in 198 |
5% |
|
Walker-Warburg Syndrome, FKTN-Related
|
FKTN (NM_001079802.1) |
Ashkenazi Jewish |
1 in 150 |
1 in 14901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
Japanese |
1 in 188 |
1 in 18701 |
99% |
|
Walker-Warburg Syndrome, FKTN-Related
|
FKTN (NM_ 001079802.1) |
Ashkenazi Jewish |
1 in 80 |
1 in 1581 |
>95% |
|
Japanese |
1 in 188 |
1 in 198 |
5% |
General population |
< 1 in 500 |
1 in 625 |
20% |
What is Walker-Warburg Syndrome, FKTN-Related?
Walker-Warburg Syndrome, FKTN-Related is an autosomal recessive disorder that affects many parts of the body, especially the brain, eyes, and muscles. Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe brain abnormalities, and eye defects with vision problems. Infants and children with Walker-Warburg Syndrome, FKTN-Related have worsening muscle weakness, problems with movement and coordination, seizures, and severe developmental delay with intellectual disability. Although symptoms vary from person to person, lifespan is usually shortened with death often occurring in early childhood. There is no cure or specific treatment for this disorder.
Rarely, mutations in the same pair of genes cause either a related condition called Fukuyama Congenital Muscular Dystrophy, a milder condition called Limb-Girdle Muscular Dystrophy, Type 2M (also known as Type C4), or, very rarely, Dilated Cardiomyopathy, Type 1X. Fukuyama Congenital Muscular Dystrophy causes brain and eye abnormalities and severe muscle weakness and is found mainly in people of Japanese ancestry. Limb-Girdle Muscular Dystrophy, Type 2M causes progressive weakness in the muscles of the arms, legs, shoulders, and hips but does not affect the brain. Symptoms of Dilated Cardiomyopathy, Type 1X include an enlarged and weakened heart and sometimes muscle weakness, usually beginning in adulthood.
What causes Walker-Warburg Syndrome, FKTN-Related?
Walker-Warburg Syndrome, FKTN-Related is caused by a change, or mutation, in both copies of the FKTN gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the FKTN gene do not work correctly, it leads to the symptoms described above. |
Walker-Warburg Syndrome, LARGE1-Related
|
LARGE1 (NM_004737.5) |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
What is Walker-Warburg Syndrome, LARGE1-Related? Walker-Warburg Syndrome, LARGE1-Related is an inherited disorder that affects many parts of the body, especially the brain, eyes, and muscles. Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe brain abnormalities, and eye defects with vision problems. Infants and children with Walker-Warburg Syndrome, LARGE1-Related have worsening muscle weakness, problems with movement and coordination, seizures, and severe developmental delay with intellectual disability. Although symptoms vary from person to person, lifespan is usually shortened with death often occurring in early childhood. Currently, there is no cure or specific treatment for this disorder. Less commonly, mutations in the same pair of genes causes a related condition called Congenital Muscular Dystrophy, Type 1D (MDC1D). Congenital Muscular Dystrophy, Type 1D has symptoms that include brain abnormalities, muscle weakness, and intellectual disability, but vision is usually normal. The information below is about Walker-Warburg Syndrome, LARGE1-Related, the most common condition. However, the inheritance pattern and reproductive options listed below also apply to Congenital Muscular Dystrophy, Type 1D. What causes Walker-Warburg Syndrome, LARGE1-Related? Walker-Warburg Syndrome, LARGE1-Related is caused by a change, or mutation, in both copies of the LARGE1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the LARGE1 gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine which of the above conditions a specific mutation in the LARGE1 gene will cause. |
Walker-Warburg Syndrome, POMT1-Related
|
POMT1 (NM_007171.3) |
General population |
1 in 275 |
1 in 27401 |
99% |
|
What is Walker-Warburg Syndrome, POMT1-Related? Walker-Warburg Syndrome, POMT1-Related is an inherited disorder that affects many parts of the body, especially the brain, eyes, and muscles. Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe brain abnormalities, and eye defects with vision problems. Infants and children with Walker-Warburg Syndrome, POMT1-Related have worsening muscle weakness, problems with movement and coordination, seizures, and severe developmental delay with intellectual disability. Although symptoms vary from person to person, lifespan is usually shortened with death often occurring in early childhood. Currently, there is no cure or specific treatment for this disorder. Rarely, mutations in the same pair of genes cause a related condition: either Muscle-Eye-Brain Disease; Congenital Muscular Dystrophy, POMT1-Related; or Limb-Girdle Muscular Dystrophy, Type C1. Muscle-Eye-Brain Disease has similar symptoms to Walker-Warburg Syndrome, POMT1-Related but is usually less severe with a longer life span. Congenital Muscular Dystrophy, POMT1-Related has symptoms that include brain abnormalities, muscle weakness, and intellectual disability with lack of speech, but vision is usually normal. Limb-Girdle Muscular Dystrophy, Type C1 symptoms include severe muscle weakness in the shoulder and hip areas that usually starts in childhood, with mild to moderate intellectual disability and delayed development and/or heart disease in some children. The information below is about Walker-Warburg Syndrome, POMT1-Related, the most common condition. However, the inheritance pattern and reproductive options listed below apply to all of the conditions described above. What causes Walker-Warburg Syndrome, POMT1-Related? Walker-Warburg Syndrome, POMT1-Related is caused by a change, or mutation, in both copies of the POMT1 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the POMT1 gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine which of the above conditions a specific mutation in the POMT1 gene will cause. |
Walker-Warburg Syndrome, POMT2-Related
|
POMT2 (NM_013382.5) |
General population |
1 in 465 |
1 in 46401 |
99% |
|
What is Walker-Warburg Syndrome, POMT2-Related? Walker-Warburg Syndrome, POMT2-Related is an inherited disorder that affects many parts of the body, especially the brain, eyes, and muscles. Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe brain abnormalities, and eye defects with vision problems. Infants and children with Walker-Warburg Syndrome, POMT2-Related have worsening muscle weakness, problems with movement and coordination, seizures, and severe developmental delay with intellectual disability. Although symptoms vary from person to person, lifespan is usually shortened with death often occurring in early childhood. Currently, there is no cure or specific treatment for this disorder. Rarely, mutations in the same pair of genes cause a related condition: either Muscle-Eye-Brain Disease; Congenital Muscular Dystrophy, POMT2-Related; or Limb-Girdle Muscular Dystrophy, Type C2. Muscle-Eye-Brain Disease has similar symptoms to Walker-Warburg Syndrome, POMT2-Related but is usually less severe with a longer life span. Congenital Muscular Dystrophy, POMT2-Related has symptoms that include brain abnormalities, muscle weakness, and intellectual disability with lack of speech, but vision is usually normal. Limb-Girdle Muscular Dystrophy, Type C2 symptoms include severe muscle weakness in the shoulder and hip areas that usually starts in childhood, with intelligence being normal in most affected individuals. The information below is about Walker-Warburg Syndrome, POMT2-Related, the most common condition. However, the inheritance pattern and reproductive options listed below apply to all of the conditions described above. What causes Walker-Warburg Syndrome, POMT2-Related? Walker-Warburg Syndrome, POMT2-Related is caused by a change, or mutation, in both copies of the POMT2 gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the POMT2 gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine which of the above conditions a specific mutation in the POMT2 gene will cause. |
Warsaw Breakage Syndrome
|
DDX11 (NM_030653.3) |
General population |
≤1 in 500 |
Reduced |
15% |
|
|
|
WRN (NM_000553.5) |
General population |
1 in 224 |
1 in 22301 |
99% |
|
What is Werner Syndrome? Werner Syndrome is an inherited disorder that causes premature aging, with symptoms typically starting in the teen-age years. Affected individuals have normal growth and development until puberty. Then, the normal growth spurt doesn't occur, which results in short stature. Symptoms of early and rapid aging begin in early adulthood and may include thin and hardened skin, gray hair and/or hair loss, and a raspy voice. Other symptoms may include thinning arms and legs and thickening torso as well as repeated sores on the skin (skin ulcers). The symptoms of Werner Syndrome worsen, and over time, may begin to include other age-related disorders such as infertility, cataracts, type 2 diabetes, osteoporosis, and atherosclerosis. Individuals with Werner Syndrome are also at increased risk to develop early-onset cancers. Currently there is no cure for Werner Syndrome, treatment is based on symptoms, and life span is typically reduced. What causes Werner Syndrome? Werner Syndrome is caused by changes, or mutations, in both copies of the WRN gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the WRN gene are not working correctly it leads to the symptoms described above. |
Wilson Disease
|
ATP7B (NM_000053.3) |
Ashkenazi Jewish |
1 in 67 |
1 in 1321 |
>95% |
|
Asian |
1 in 50 |
1 in 981 |
>95% |
Canary Islands |
1 in 25 |
1 in 481 |
>95% |
Caucasian |
1 in 90 |
1 in 1781 |
>95% |
General population |
1 in 90 |
1 in 1781 |
>95% |
Sardinian |
1 in 42 |
1 in 821 |
>95% |
Sephardic Jewish - North African, Iraqi, Yemenite, Iranian, Bukharian |
1 in 65 |
1 in 1281 |
>95% |
|
|
ATP7B (NM_000053.3) |
Ashkenazi Jewish |
1 in 67 |
1 in 1321 |
>95% |
|
Asian |
1 in 50 |
1 in 981 |
>95% |
Canary Islands |
1 in 25 |
1 in 481 |
>95% |
Caucasian |
1 in 90 |
1 in 1781 |
>95% |
Sardinian |
1 in 42 |
1 in 821 |
>95% |
Sephardic Jewish - North African, Iraqi, Yemenite, Iranian, Bukharian |
1 in 65 |
1 in 1281 |
>95% |
General population |
1 in 90 |
1 in 1781 |
>95% |
What is Wilson Disease?
Wilson Disease is an autosomal recessive disorder that causes copper from the diet to build up in certain parts of the body, especially the liver, eyes, and brain. Signs and symptoms of Wilson Disease usually begin in the teenage years and in rare cases not until adulthood. Symptoms include liver disease, nervous system and psychiatric problems, and specific eye findings called Kayser-Fleischer rings (green/brown colored areas of excess copper on the surface of the eyes that do not interfere with vision). Other symptoms may include problems with coordination, movement, and behavior. Wilson Disease is commonly treated through chelation therapy to remove the excess stored copper from the body. This treatment helps to slow, and in some cases stop, the progression of the disease and improve symptoms. With treatment, people with Wilson Disease can have a normal lifespan.
What causes Wilson Disease?
Wilson Disease is caused by a change, or mutation, in both copies of the ATP7B gene pair. These mutations cause the genes to not work properly or not work at all. Normal function of the ATP7B genes is needed for normal transport of copper within the cells of the body. When both copies of the ATP7B gene do not work correctly, it leads to the symptoms described above. |
Wilson Disease
|
ATP7B (NM_000053.3) |
Ashkenazi Jewish |
1 in 70 |
1 in 6901 |
99% |
|
Canary Islands |
1 in 25 |
1 in 2401 |
99% |
Caucasian |
1 in 90 |
1 in 8901 |
99% |
East Asian |
1 in 27 |
1 in 2601 |
99% |
General population |
1 in 90 |
1 in 8901 |
99% |
Sardinian |
1 in 42 |
1 in 4101 |
99% |
Sephardic Jewish - North African, Iraqi, Yemenite, Iranian, Bukharian |
1 in 65 |
1 in 6401 |
99% |
|
|
WAS (NM_000377.2) |
General population |
1 in 67000 |
1 in 6699901 |
99% |
|
What is Wiskott-Aldrich Syndrome? Wiskott-Aldrich Syndrome is an inherited disorder of the blood and the immune system that affects mainly males. Males with Wiskott-Aldrich Syndrome have fewer platelets which are smaller than normal (microthrombocytopenia) and abnormal white blood cells. Platelets are the parts of blood that help with blood clotting when there is an injury or wound. Symptoms of Wiskott-Aldrich Syndrome often start at birth and may include bloody diarrhea, easy bruising, and prolonged bleeding after even minor injury. Symptoms caused by the white blood cell abnormalities include repeated infections, eczema, and risk for autoimmune disorders such as rheumatoid arthritis or vasculitis. Males with this condition are also at increased risk for a type of cancer called lymphoma. Some affected males only have the platelet symptoms and have either mild or no immune system symptoms - this form is sometimes called X-Linked Thrombocytopenia. Other affected males only have the immune system and white blood cell problems without the platelet symptoms; this form is sometimes called X-Linked Congenital Neutropenia. These three related conditions are all caused by mutations in the same gene and are sometimes called WAS-Related Disorders. In some cases, affected individuals have been treated with stem cell transplantation from cord blood or bone marrow. Couples at risk of having an affected child may consider cord blood banking, as siblings have a higher chance of being a match for stem cell transplantation than a non-related individual. The information below is about Wiskott-Aldrich Syndrome but applies to all other forms of the WAS-Related Disorders as well. What causes Wiskott-Aldrich Syndrome? Wiskott-Aldrich Syndrome is caused by a change, or mutation, in the WAS gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male it leads to the symptoms described above. It is sometimes, but not always, possible to determine which form of the WAS-Related Disorders a specific mutation in the WAS gene will cause. |
Wolcott-Rallison Syndrome
|
EIF2AK3 (NM_004836.6) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Wolcott-Rallison Syndrome? Wolcott-Rallison Syndrome is characterized by life-long insulin-dependent diabetes that starts shortly after birth or in early infancy. Later symptoms include bone changes that cause slow growth and short stature, joint changes with pain, and osteoporosis with increased risk of fractures. Some affected children also have an enlarged liver and spleen, kidney and heart problems, and/or intellectual disability. Currently there is no cure for this condition and treatment is based on symptoms. What causes Wolcott-Rallison Syndrome? Wolcott-Rallison Syndrome is caused by a gene change, or mutation, in both copies of the EIF2AK3 gene pair. These mutations cause the gene to not work properly or not work at all. When both copies of this gene do not work correctly, it leads to the symptoms described above. |
Wolman Disease
|
LIPA (NM_000235.3) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 49901 |
99% |
|
Caucasian |
1 in 145 |
1 in 14401 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
Sephardic Jewish - Iranian |
1 in 26 |
1 in 2501 |
99% |
|
|
LIPA (NM_ 000235.3) |
Ashkenazi Jewish |
< 1 in 500 |
1 in 9981 |
>95% |
|
Caucasian |
1 in 145 |
1 in 2881 |
>95% |
Sephardic Jewish - Iranian |
1 in 26 |
1 in 501 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Wolman Disease?
Wolman Disease, a form of Lysosomal Acid Lipase Deficiency, is an autosomal recessive disorder in which the body is unable to break down and use cholesterol and fats from the diet. Cholesterol and fats then build up in many organs of the body and lead to the disease symptoms. Signs and symptoms usually begin in infancy and include enlarged liver and spleen (hepatosplenomegaly), poor weight gain, poor muscle tone, yellowing of the skin and the whites of the eyes (jaundice), liver disease, anemia, vomiting, and diarrhea. Infants with Wolman Disease also have developmental delays and are malnourished. Without treatment, most affected children die in infancy or early childhood.
A milder form of Lysosomal Acid Lipase Deficiency, called Cholesteryl Ester Storage Disease, has symptoms that vary from person to person and include buildup of cholesterol and fats in the body, enlarged liver with cirrhosis, hardening of the arteries (atherosclerosis), and an increased risk for heart disease and stroke. Symptoms may start in early childhood or not until adulthood and lifespan may be decreased. Enzyme replacement therapy and other medications are available for both forms of Lysosomal Acid Lipase Deficiency and may be helpful in lessening the symptoms.
What causes Wolman Disease?
Wolman Syndrome is caused by a gene change, or mutation, in both copies of the LIPA gene pair. These mutations cause the genes to not work properly or not work at all. The LIPA gene is important for the breakdown of cholesterol and triglycerides in the body. When both copies of the LIPA gene pair do not work properly, it leads to the symptoms described above. |
Woodhouse-Sakati Syndrome
|
DCAF17 (NM_025000.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
X-Linked Chondrodysplasia Punctata 1
|
ARSE (NM_000047.2) |
General population |
1 in 375000 |
1 in 37499901 |
99% |
|
What is X-Linked Chondrodysplasia Punctata 1? X-Linked Chondrodysplasia Punctata 1 is a rare inherited disorder that causes changes to the bone and cartilage and affects mainly males. Boys with this condition are often shorter than average, have short fingertips and toes, and have common facial features including flattened nose and nasal bridge. Some affected boys have breathing problems due to thickened cartilage in the airways and some have pain, numbness, and weakness due to compression on the spinal cord. Other symptoms that occur in some affected males include hearing loss, vision problems, and/or heart defects. Intelligence and lifespan are usually normal. Currently there is no cure for this condition and treatment is based on symptoms. What causes X-Linked Chondrodysplasia Punctata 1? X-Linked Chondrodysplasia Punctata 1 is caused by a change, or mutation, in the ARSE (ARSL) gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly in a male, it leads to the symptoms described above. |
X-Linked Lissencephaly with Abnormal Genitalia
|
ARX (NM_139058.2) |
General population |
1 in 750000 |
1 in 74999901 |
99% |
|
What is X-Linked Lissencephaly with Abnormal Genitalia? X-Linked Lissencephaly with Abnormal Genitalia (XLAG) and related conditions are inherited disorders that cause abnormalities in the brain and affect males more often than females. Baby boys with XLAG are born with a small and underdeveloped brain (microcephaly) that is smooth and lacks the normal grooves and folds (lissencephaly). In addition, the penis is often small and the testes are not descended. Boys with XLAG have intellectual disability, severe epileptic seizures, weak muscle tone (hypotonia), muscle stiffness (spasticity) and feeding problems. Chronic diarrhea, episodes of increased blood sugar and problems maintaining a normal body temperature are found in some boys. Many affected babies die within the first few months of life. Females with this condition may have no symptoms at all or may have some brain abnormalities and developmental delays and intellectual disabilities that tend to be less severe than those seen in affected males. Sometimes, an affected individual will have a related disorder instead of XLAG. Related disorders caused by mutations in the same gene that causes XLAG include: Early Infantile Epileptic Encephalopathy 1 (EIEE1), Partington Syndrome, Proud Syndrome and X-Linked Intellectual Disability (XLID). EiEE1 causes chronic seizures which usually start in infancy and lead to developmental delays and intellectual disability. Symptoms of Partington Syndrome include intellectual disability and abnormal hand movements (focal dystonia); some affected individuals also have chronic seizures and/or autistic-like behaviors and problems with communication. Signs and symptoms of Proud Syndrome include absence of the corpus callosum (the part of the brain that connects the two halves) and/or fluid in the brain (hydranencephaly) with mild to severe intellectual disability, and abnormal genitals in boys. XLID causes intellectual disability with or without brain abnormalities. Currently there is no cure for XLAG and related disorders and treatment is based on symptoms. What causes X-Linked Lissencephaly with Abnormal Genitalia? X-Linked Lissencephaly with Abnormal Genitalia (XLAG) and related disorders are caused by a change, or mutation, in the ARX gene. This mutation causes the gene to not work properly or not work at all. When this gene does not work correctly it leads to the symptoms described above. It is sometimes, but not always, possible to determine which of these related conditions a specific ARX gene mutation will cause. |
Xeroderma Pigmentosum Variant Type
|
POLH (NM_006502.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Xeroderma Pigmentosum, Group A
|
XPA (NM_000380.3) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Xeroderma Pigmentosum, Group A? Xeroderma Pigmentosum, Group A is an inherited condition that causes the body to have extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition affects the eyes and areas of skin exposed to the sun, and in some cases affects the brain and nervous system. Signs and symptoms of Xeroderma Pigmentosum, Group A usually appear in infancy or early childhood. Affected children can develop a severe sunburn after spending only a few minutes in the sun. By age 2, almost all children with Xeroderma Pigmentosum, Group A have freckling in sun-exposed areas, dry skin, and patchy changes in the color of the skin. The eyes are very sensitive to the sun, leading to irritation and other eye problems that can affect vision. People with Xeroderma Pigmentosum, Group A have a greatly increased risk of developing skin cancer. Unless protected from the sun, about half of children will develop a skin cancer by age 10. Most people with Xeroderma Pigmentosum, Group A will have a number of skin cancers during their life. There may also be an increased risk for other types of cancer, including eye cancer and brain tumors, although more studies need to be done to know for sure. Lifelong medical care is important for both prevention and early detection of skin cancers. Some people with Xeroderma Pigmentosum, Group A develop neurological problems that worsen over time. These problems may include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual abilities, difficulty swallowing and talking, and seizures. Currently there is no cure for this disorder and treatment is based on symptoms. What causes Xeroderma Pigmentosum, Group A? Xeroderma Pigmentosum, Group A is caused by a change, or mutation, in both copies of the XPA gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the XPA gene pair is to help repair the body's DNA. When both copies of the XPA gene do not work correctly, DNA mistakes are left uncorrected, leading to the symptoms described above. |
Xeroderma Pigmentosum, Group C
|
XPC (NM_004628.4) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Xeroderma Pigmentosum, Group C? Xeroderma Pigmentosum, Group C is an inherited condition that causes the body to have extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition affects the eyes and areas of skin exposed to the sun, and in some cases affects the brain and nervous system. Signs and symptoms of Xeroderma Pigmentosum, Group C usually appear in infancy or early childhood. Affected children can develop a severe sunburn after spending only a few minutes in the sun. By age 2, almost all children with Xeroderma Pigmentosum, Group C have freckling in sun-exposed areas, dry skin, and patchy changes in skin color. The eyes are very sensitive to the sun, leading to irritation and other eye problems that can affect vision. People with Xeroderma Pigmentosum, Group C have a greatly increased risk of developing skin cancer. Unless protected from the sun, about half of children will develop a skin cancer by age 10. Most people with Xeroderma Pigmentosum, Group C will have a number of skin cancers during their life. There may also be an increased risk for other types of cancer, including eye cancer and brain tumor, although more studies need to be done to know for sure. Lifelong medical care is important for both prevention and early detection of skin cancers. Some people with Xeroderma Pigmentosum, Group C develop neurological problems that worsen over time. These problems may include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual abilities, difficulty swallowing and talking, and seizures. Currently there is no cure for this disorder and treatment is based on symptoms. What causes Xeroderma Pigmentosum, Group C? Xeroderma Pigmentosum, Group C is caused by a change, or mutation, in both copies of the XPC gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the XPC gene pair is to help repair the body's DNA. When both copies of the XPC gene do not work correctly, DNA mistakes are left uncorrected, leading to the symptoms described above. |
Zellweger Spectrum Disorder, Pex13-Related
|
PEX13 (NM_002618.3) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Zellweger Spectrum Disorder, Pex16-Related
|
PEX16 (NM_004813.2) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Zellweger Spectrum Disorder, Pex5-Related
|
PEX5 (NM_001131025.1) |
General population |
≤1 in 500 |
Reduced |
99% |
|
|
Zellweger Spectrum Disorders, PEX1-Related
|
PEX1 (NM_000466.3) |
Caucasian |
1 in 147 |
1 in 2921 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Zellweger Spectrum Disorders, PEX1-Related?
Zellweger Spectrum Disorders, PEX1-Related refers to a group of autosomal recessive conditions that includes Zellweger Syndrome, the most severe form; Infantile Refsum Disease (IRD) and Neonatal Adrenoleukodystrophy (NALD), intermediate in severity; and Heimler Syndrome, the mildest form. Children born with Zellweger Spectrum Disorders, PEX1-Related can have signs and symptoms in the newborn period or not until later in childhood. Signs and symptoms of Zellweger Syndrome, the most severe form, include low muscle tone (hypotonia), feeding problems, distinctive facial features, developmental delay, seizures, and liver disease. Infants with Zellweger Syndrome often die in the first year of life. Children with Infantile Refsum Disease or Neonatal Adrenoleukodystrophy often have longer survival with symptoms that include slowly progressing vision and hearing loss, intellectual disability, developmental delay, hypotonia, liver disease, and other medical problems. Heimler Syndrome is a milder and very rare condition with symptoms that include sensorineural hearing loss, nail abnormalities, and loss of tooth enamel; intelligence is not affected. Currently there is no cure for these disorders and treatment is based on symptoms.
What causes Zellweger Spectrum Disorders, PEX1-Related?
Zellweger Spectrum Disorders, PEX1-Related are caused by a gene change, or mutation, in both copies of the PEX1 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the PEX1 gene pair is to help makes structures in our cells called peroxisomes that clear harmful substances from the body. When both copies of the PEX1 gene do not work correctly, peroxisomes do not form correctly in the cells of our body, leading to the symptoms described above. |
Zellweger Spectrum Disorders, PEX1-Related
|
PEX1 (NM_000466.2) |
Caucasian |
1 in 147 |
1 in 2921 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Zellweger Spectrum Disorders, PEX1-Related
|
PEX1 (NM_000466.2) |
Caucasian |
1 in 147 |
1 in 14601 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Zellweger Spectrum Disorders, PEX10-Related
|
PEX10 (NM_153818.1) |
Asian |
< 1 in 500 |
1 in 49901 |
99% |
|
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Zellweger Spectrum Disorders, PEX10-Related
|
PEX10 (NM_ 153818.1) |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Zellweger Spectrum Disorders, PEX10-Related?
Zellweger Spectrum Disorders, PEX10-Related refers to a group of autosomal recessive disorders that includes Zellweger Syndrome, the most severe form, along with Infantile Refsum Disease (IRD) and Neonatal Adrenoleukodystrophy (NALD) which are intermediate in severity. Children born with Zellweger Spectrum Disorders, PEX10-Related can have signs and symptoms in the newborn period or not until later in childhood. Signs and symptoms in Zellweger Syndrome, the most severe form, include low muscle tone (hypotonia), feeding problems, distinctive facial features, developmental delay, seizures, and liver disease. Infants with Zellweger Syndrome often die in the first year of life. Children with Infantile Refsum Disease or Neonatal Adrenoleukodystrophy often have longer survival with symptoms that include slowly progressing vision and hearing loss, intellectual disability, developmental delay, hypotonia, liver disease, and other medical problems. Currently there is no cure for these disorders and treatment is based on symptoms.
What causes Zellweger Spectrum Disorders, PEX10-Related?
Zellweger Spectrum Disorders, PEX10-Related are caused by a change, or mutation, in both copies of the PEX10 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the PEX10 genes is to help make peroxisomes, structures in our cells that clear harmful substances from the body. When both copies of the PEX10 gene do not work correctly, peroxisomes do not form correctly, leading to the symptoms described above. |
Zellweger Spectrum Disorders, PEX10-Related
|
PEX10 (NM_153818.1) |
Asian |
< 1 in 500 |
1 in 9981 |
>95% |
|
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Zellweger Spectrum Disorders, PEX12-Related
|
PEX12 (NM_000286.2) |
General population |
1 in 406 |
1 in 40501 |
99% |
|
What is Zellweger Spectrum Disorders, PEX12-Related? Zellweger Spectrum Disorders, PEX12-Related refers to a group of inherited disorders that includes Zellweger Syndrome, the most severe form, along with Infantile Refsum Disease (IRD) and Neonatal Adrenoleukodystrophy (NALD) which are intermediate in severity. Children born with Zellweger Spectrum Disorders, PEX12-Related can have signs and symptoms in the newborn period or not until later in childhood. Signs and symptoms in Zellweger Syndrome, the most severe form, include low muscle tone (hypotonia), feeding problems, distinctive facial features, developmental delay, seizures, and liver disease. Infants with Zellweger Syndrome often die in the first year of life. Children with Infantile Refsum Disease or Neonatal Adrenoleukodystrophy often have longer survival with symptoms that include slowly progressing vision and hearing loss, intellectual disability, developmental delay, hypotonia, liver disease, and other medical problems. Currently there is no cure for these disorders and treatment is based on symptoms. What causes Zellweger Spectrum Disorders, PEX12-Related? Zellweger Spectrum Disorders, PEX12-Related are caused by a change, or mutation, in both copies of the PEX12 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the PEX12 gene pair is to help make peroxisomes, structures in our cells that clear harmful substances from the body. When both copies of the PEX12 gene do not work correctly, peroxisomes do not form correctly in the cells of the body, leading to the symptoms described above. It is sometimes, but not always, possible to determine which of the above disorders a specific mutation in the PEX12 gene will cause. |
Zellweger Spectrum Disorders, PEX2-Related
|
PEX2 (NM_001079867.1) |
Ashkenazi Jewish |
1 in 227 |
1 in 4521 |
>95% |
|
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
|
Zellweger Spectrum Disorders, PEX2-Related
|
PEX2 (NM_000318.2) |
Ashkenazi Jewish |
1 in 227 |
1 in 22601 |
99% |
|
Caucasian |
< 1 in 500 |
1 in 49901 |
99% |
General population |
< 1 in 500 |
1 in 49901 |
99% |
|
Zellweger Spectrum Disorders, PEX2-Related
|
PEX2 (NM_ 001079867.1) |
Ashkenazi Jewish |
1 in 227 |
1 in 4521 |
>95% |
|
Caucasian |
< 1 in 500 |
1 in 9981 |
>95% |
General population |
< 1 in 500 |
1 in 9981 |
>95% |
What is Zellweger Spectrum Disorders, PEX2-Related?
Zellweger Spectrum Disorders, PEX2-Related refers to a group of autosomal recessive disorders that includes Zellweger Syndrome, the most severe, along with Infantile Refsum Disease (IRD) and Neonatal Adrenoleukodystrophy (NALD) which are intermediate in severity. Children born with Zellweger Spectrum Disorders, PEX2-Related can have signs and symptoms in the newborn period or not until later in childhood. Signs and symptoms in Zellweger Syndrome, the most severe form, include low muscle tone (hypotonia), feeding problems, distinctive facial features, developmental delay, seizures, and liver disease. Infants with Zellweger Syndrome often die in the first year of life. Children with Infantile Refsum Disease or Neonatal Adrenoleukodystrophy often have longer survival with symptoms that include slowly progressing vision and hearing loss, intellectual disability, developmental delay, hypotonia, liver disease, and other medical problems. Currently there is no cure for these disorders and treatment is based on symptoms.
What causes Zellweger Spectrum Disorders, PEX2-Related?
Zellweger Spectrum Disorders, PEX2-Related are caused by a change, or mutation, in both copies of the PEX2 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the PEX2 genes is to help make peroxisomes, structures in our cells that clear harmful substances from the body. When both copies of the PEX2 gene do not work correctly, peroxisomes do not form correctly, leading to the symptoms described above. |
Zellweger Spectrum Disorders, PEX26-Related
|
PEX26 (NM_017929.5) |
General population |
<1 in 500 |
1 in 49901 |
99% |
|
What is Zellweger Spectrum Disorders, PEX26-Related? Zellweger Spectrum Disorders, PEX26-Related refers to a group of inherited conditions that includes Zellweger Syndrome, the most severe form, and Infantile Refsum Disease (IRD) and Neonatal Adrenoleukodystrophy (NALD), which are both intermediate in severity. Children born with Zellweger Spectrum Disorders, PEX26-Related can have signs and symptoms in the newborn period or not until later in childhood. Signs and symptoms of Zellweger Syndrome, the most severe form, include low muscle tone (hypotonia), feeding problems, distinctive facial features, developmental delay, seizures, and liver disease. Infants with Zellweger Syndrome often die in the first year of life. Children with Infantile Refsum Disease or Neonatal Adrenoleukodystrophy often have longer survival with symptoms that include slowly progressing vision and hearing loss, intellectual disability, developmental delay, hypotonia, liver disease, and other medical problems. Currently there is no cure for these disorders and treatment is based on symptoms. What causes Zellweger Spectrum Disorders, PEX26-Related? Zellweger Spectrum Disorders, PEX26-Related are caused by a gene change, or mutation in both copies of the PEX26 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the PEX26 genes is to help make peroxisomes, structures in our cells that clear harmful substances from the body. When both copies of the PEX26 gene do not work correctly, peroxisomes do not form correctly in the cells of the body, leading to the symptoms described above. It is sometimes, but not always, possible to determine which of the above disorders a specific mutation in the PEX26 gene will cause. |
Zellweger Spectrum Disorders, PEX6-Related
|
PEX6 (NM_000287.3) |
French Canadian |
1 in 55 |
1 in 1081 |
>95% |
|
General population |
1 in 280 |
1 in 5581 |
>95% |
Sephardic Jewish - Yemenite |
1 in 18 |
1 in 341 |
>95% |
|
Zellweger Spectrum Disorders, PEX6-Related
|
PEX6 (NM_000287.3) |
French Canadian |
1 in 55 |
1 in 5401 |
99% |
|
General population |
1 in 280 |
1 in 27901 |
99% |
Sephardic Jewish - Yemenite |
1 in 18 |
1 in 1701 |
99% |
|
Zellweger Spectrum Disorders, PEX6-Related
|
PEX6 (NM_ 000287.3) |
French Canadian |
1 in 55 |
1 in 1081 |
>95% |
|
Sephardic Jewish - Yemenite |
1 in 18 |
1 in 341 |
>95% |
General population |
1 in 280 |
1 in 5581 |
>95% |
What is Zellweger Spectrum Disorders, PEX6-Related?
Zellweger Spectrum Disorders, PEX6-Related refers to a group of autosomal recessive conditions that includes Zellweger Syndrome, the most severe form; Infantile Refsum Disease (IRD) and Neonatal Adrenoleukodystrophy (NALD), intermediate in severity; and Heimler Syndrome, the mildest form. Children born with Zellweger Spectrum Disorders, PEX6-Related can develop signs and symptoms in the newborn period or later in childhood. Signs and symptoms in Zellweger Syndrome, the most severe form, include low muscle tone (hypotonia), feeding problems, distinctive facial features, developmental delay, seizures, and liver disease. Infants with Zellweger Syndrome often die in the first year of life. Children with Infantile Refsum Disease or Neonatal Adrenoleukodystrophy often have longer survival with symptoms that include slowly progressing vision and hearing loss, intellectual disability, developmental delay, hypotonia, liver disease, and other medical problems. Heimler Syndrome is a milder and very rare condition with symptoms that include sensorineural hearing loss, nail abnormalities, and loss of tooth enamel; intelligence is not affected. Currently there is no cure for these disorders and treatment is based on symptoms.
What causes Zellweger Spectrum Disorders, PEX6-Related?
Zellweger Spectrum Disorders, PEX6-Related are caused by a change, or mutation, in both copies of the PEX6 gene pair. These mutations cause the genes to not work properly or not work at all. The normal function of the PEX6 genes is to help make peroxisomes, structures in our cells that clear harmful substances from the body. When both copies of the PEX6 gene do not work correctly, peroxisomes do not form correctly, leading to the symptoms described above. |