List of Jewish Genetic Diseases

The discovery of DNA and subsequent research has opened a new door of understanding into health, helping to uncover the genetic reasons for many diseases. Moment has put together this guide to help Ashkenazi, Sephardi and Mizrahi Jews learn more about this subject which does not receive enough attention. But these diseases are not limited to Jews. Due to the whims of history, genetic mutations can be found in anyone.

Ashkenazi Genetic Diseases

Many recessive diseases caused by genetic mutations among Ashkenazi Jews from Eastern Europe are disabling and fatal. They occur when a fetus inherits two mutations in the same gene, one from each parent. Tests can determine if people carry the common mutations, and prenatal testing is possible for all the diseases included on the list below. Cystic Fibrosis and Spinal Muscular Atrophy, while slightly more prevalent among Jewish Caucasian populations than among other Caucasian populations, are not primarily considered “Jewish diseases.” If both parents are carriers of the same dis­ease there is a one in four chance with each pregnancy of having an affected fetus. This is the autosomal recessive pattern of inheri­tance where both individuals must carry the same disease in order to be at risk of having an affected child.Recent research also in­dicates Crohns disease, Ulcertative Colitis, and a mutation which increases the chance of developing Parkinson’s disease are all more commonly found in Ashkenazi Jews. Bloom Syndrome Bloom Syndrome hinders normal growth. Children typically reach a maximum of five feet at maturity. Other symptoms include increased respiratory and ear infections, redness of the face, infertility in males and an increased risk of cancer.

Canavan Disease

Apparently normal at birth, babies with Canavan Disease develop an enlarged head, mental retardation, feeding difficul­ties and seizures. Although many die in the first year of life, some live into their teens.Familial Dysautonomia This dysfunction of the autonomic nervous system has been found only in Ashkenazi Jews. Occurring in infancy, symptoms in­clude the inability to produce tears when crying, poor weight gain, indifference to pain, excessive sweating, gastrointestinal problems and incorrect perceptions of heat and taste. Before 1960, approximately 50 percent of patients died before age five, but today that same percentage reaches age 30.

Fanconi Anemia Type C

All five types of Fanconi Anemia, a red and white blood cell and platelet deficien­cy, are inherited, but Type C is the most common in Ashkenazi Jews. Although symptoms are highly variable, physical abnormalities such as limb defects, bone marrow failure, and increased cancer risks  are com­mon. Many children who are diagnosed with Type C do not survive beyond young adulthood.

Gaucher Disease, Type 1

Caused by an enzyme deficiency, the symptoms of Gau­cher Disease are variable and can present any time from early childhood to adult­hood. Gaucher disease type 1 causes orthopedic problems and blood abnormalities. Gaucher disease is treat­able with enzyme replacement therapy.

Mucolipidosis (ML IV)

Its first symptoms are severe developmental delays and clouding of the cornea of the eye during early infancy. As it progresses, ML IV cripples the central nervous system. Most afflicted children never walk and some become severely re­tarded by age three.

Niemann-Pick Disease

Among its five variations, only Type A is more frequent among Ashkenazi Jews. By six months, infants with Type A ex­perience difficulty feeding and recurrent vomiting, and develop enlarged spleens and livers. Children with Niemann-Pick disease type A usually die by age three.

Tay-Sachs Disease.

A severe neurodegenerative disease, the most com­mon symptom is the development of a cherry-red spot on the back of the eye, which occurs when a child is four to eight months old. Most children are totally debilitated with seizures, blindness, and spasticity by age three and die by age five.Other diseases of connection to Ash­kenazi Jews are Glycogen Storage Disease type 1A, Maple Syrup Urine Disease, Familial Hyperinsulinism, Joubert Syndrome Type 2, Lipoamide De­hydrogenase Deficiency (E3), Nemaline Myopathy,  Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome.NOTE: There are also diseases which are more prevalent in peo­ple with Ashkenazi Jewish heri­tage. They are autosomal domi­nant, where an individual carrying a mutation is affected, and then has a 50% chance  to pass on the muta­tion to his/her children, including:Torsion Dystonia Affecting movement control, Torsion Dys­tonia generally shows up between the ages of six and 16 and affects the muscular de­velopment of limbs. Approximately one in 3,000 Ashkenazis is likely to develop it, and symptoms sometimes develop when there is no family history.

Breast Cancer

5-10% of breast and ovarian cancers are hereditary. Of those, ~85% are due to mutations in the BRCA genes, which cause hereditary breast and ovarian cancer. 1 in 40 Ashkenazi Jews carry a mutation in the BRCA genes. There are three specific muta­tions (two in the BRCA1 gene and one in the BRCA2 gene) in the Ashkenazi Jewish population. If an Ashkenazi Jewish woman carries a BRCA mutation, most of the time it is one of the three founder mutations previously discussed.

Sephardi Genetic Diseases

Sephardi Jews, whose ancestry can be traced to North African and Mediterranean countries, including Spain and Greece, suffer from the same genetic diseases as other populations in these countries. Jews of Sephardi ancestry also have their own set of distinct carrier screening tests based on their country of origin.

Beta-Thalassemia

This disorder reducing the amount of hemoglobin can result in severe anemia in the first two years of life or in a milder case later in life. Roughly one in 30 people of Mediterranean descent carries the gene; one in 3,600 develops it.

Familial Mediterranean Fever

As many as one in 200 North African and Iraqi Jews, Armenians and Turks has the disease, distinguished by 12 to 72-hour bouts of fever. Symptoms usually start be­tween ages five and 15.

Glucose-6-PhosphateDehydrogenase Deficiency (G6PD)

This common human enzyme deficiency affects an estimated 400 million people worldwide, and is transmitted from a car­rier mother to her male infant. The disease can manifest itself as life-long hemolytic anemia or bouts of it. Some experience no symptoms at all, although certain oxidative drugs and infections as well as fava beans can induce it.

Glycogen Storage Disease, Type III (Cori’s Disease or Forbes Disease)

This disease prevents the liver and muscle from breaking down stored glycogen to glu­cose. Some develop hypoglycemia, an en­larged liver and weak muscles. Roughly one in 5,400 North African Jews has the disease.Other diseases of connection to Sep­hardi origin include: Alpha-Thalassemia, Ataxia Telangiectasia, Corticosterone Methyloxidase Type II Deficiency, Costeff Optical Atrophy, Cystic Fibrosis (CF), Fa­milial Creutzfeldt-Jakob Disease, Familial Tumoral Calcinosis (Normophosphatemic Type), Inclusion Body Myophy Type 2B, Metachromic Leukodystrophy, Polyglan­dular Deficiency Syndrome, Pseudocholin­esterase Deficiency, Spinal Muscular Ath­rophy (SMA) and Wolman Disease.MIZRAHI GENETIC DISEASESMizrahi, the term for “Eastern,” in He­brew, generally refers to Jews of Persian (Iranian) and Middle Eastern heritage. Jews of Mizrahi ancestry also have their own set of carrier screening tests based on their country of origin.