"Jewish Genetic Diseases" is a term that describes a group of conditions which are unusually common among Jews of Ashkenazi (Central and Eastern European) descent. Although these diseases can affect Sephardi Jews and non-Jews, they appear in Ashkenazi Jews more often — as much as 20 to 100 times more frequently. There is no set panel of Jewish genetic disorders, and different labs screen for a different number of them. The most current recommendation comes from the American College of Medical Genetics (ACMG), and suggests screening for nine specific disorders. Read more about Jewish Genetic Diseases.

Glycogen Storage Disorder

The term Glycogen Storage Disorder is used to describe a collection of genetic diseases that affect how glucose is converted to glycogen or how glycogen is broken down into glucose. ... read more »

Bloom Syndrome

Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome. ... read more »

Jewish Genetic Disorder: Mucolipidosis IV

Mucolipidosis IV is a rare genetic disorder passed down from parents to children. Both parents must carry the recessive gene for children to be affected. About 95% of people with Mucolipidosis IV have the typical or severe strain. ... read more »

Machado Joseph Disease

Machado Joseph disease is a genetic disorder affecting muscle movement and development. Unlike many other genetic diseases, only one parent needs to carry the gene to pass the condition onto children. ... read more »

Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is a genetic disorder passed down from parents to children. The disease causes high fevers and bouts of inflammation. ... read more »

Fanconi Anemia

Fanconi Anemia is a genetic disorder that affects the bone marrow'sability to produce new or healthy red blood cells. Both parents mustcarry the affected gene to pass the disorder onto their children. ... read more »

Gaucher Disease

Gaucher disease is a genetic disorder passed along to children born to two parents with the recessive trait. The disease affects as many as 1 in 50,000 people with the highest risk in the Ashkenazi Jewish population. ... read more »

Neiman Pick Disease

Neiman Pick disease is a group of genetic diseases. There are five types of the disease, types A, B, C, D and E. Each type of Neiman Pick affects different organs, but all affect cholesterol storage, fat storage or both. ... read more »

Torsion Dystonia

Torsion Dystonia is a progressive genetic disorder that causes painful and debilitating muscle contractions. The most common form of the disease is early-onset with symptoms appearing in childhood. ... read more »

Canavan Disease

Canavan Disease is a genetic disorder commonly found in Ashkenazi Jews. The disease causes a premature breakdown of white matter in the brain. The disease is associated with chromosome 17. ... read more »

Usher Syndrome

Usher Syndrome is a relatively common genetic disorder that primarily affects vision and hearing. In some cases, children with a severe form of the disorder are born with substantial balance problems that affect motor coordination. ... read more »

Lipoamide Dehydrogenase Deficiency

Lipoamide Dehydrogenase Deficiency is an extremely rare disease often referred to as E3. The condition is inherited. Due to the extreme rarity of the condition, significant medical information and treatment options are lacking. ... read more »

Maple Syrup Urine Disease

Maple Syrup Urine Disease is a genetic disorder. The most noticeable symptom of the condition is sweet scented urine that may smell similar to maple syrup. The disease prevents the body from breaking down amino acids effectively. ... read more »

Nemaline Myopathy

Nemaline Myopathy is a non-progressive neuromuscular disease that affects muscle strength and development. This condition is one of the 40 diseases currently covered by the MDA (Muscular Dystrophy Association). ... read more »

Factor XI Deficiency

Factor XI deficiency is a blood clotting disorder similar to hemophilia. There is a wide variance in symptoms with mild, moderate and severe cases. ... read more »

Tay Sachs Disease

Tay Sachs disease is caused by a defective gene on the 15th chromosome. Both parents must have the defective gene to pass the active disease to a child. If both parents carry the defective gene, children have a 25% chance of having an active form of Tay Sachs. ... read more »

Crohn’s Disease in Pregnancy

Crohn's Disease is an inflammatory autoimmune disorder.Typically, the body can tell the difference between native and foreignsubstances, but patients with Crohn's Disease lack this ability. ... read more »

Joubert Syndrome

Joubert Syndrome is a condition caused by a malformation of the brain. The condition can be passed from parents to children. To be inherited, parents must possess multiple recessive mutated genes. ... read more »

Familial Dysautonomia

Familial Dysautonomia, also known as Riley-Day syndrome, affects the development and function of nerves throughout the body. ... read more »

Spinal Muscular Atrophy

Spinal Muscular Atrophy is a genetic disorder that affects motor neurons. The protein needed to keep these motor neurons alive is not coded correctly by the SMN1 gene. ... read more »

Walker Warburg Syndrome

WWS, also known as Walker Warburg Syndrome, is a genetic condition passed on to children of parents with two recessive genes. Both parents must have the recessive gene for children to be born with the condition. ... read more »

Familial Hyperinsulinism

Familial Hyperinsulinism affects insulin levels, which in turn affects blood glucose levels. Patients with the condition release too much insulin. Too much insulin causes blood glucose levels to drop, leading to hypoglycemia. ... read more »

Common Genetic Conditions Due to Ethnicity

Some genetic disorders are more likely to occur among people who trace their ancestry to a particular geographic area. People in an ethnic group often share certain versions of their genes, which have been passed down from common ancestors. ... read more »

Genetic Diseases in Jewish Population

There are nearly 4,000 genetic diseases known that afflict the world's population. Certain genetic diseases occur at higher frequencies among certain ethnic, racial, or demographic groups. ... read more »