Ashkenazi Jewish Genetic Diseases Ethnic groups around the world are known to have an increased risk of particular genetic diseases. Likewise, Jewish individuals of Eastern European (Ashkenazi) background have a higher risk than others of certain diseases. Most of these are due to autosomal recessive inheritance. There are additional genetic disorders which have a higher frequency in the Jewish population and which are related to dominant disease predisposition genes such as the BRCA1 and BRCA2 genes, which are associated with an increased risk for breast and ovarian cancer. One in four individuals of Ashkenazi Jewish descent is a carrier for one or more of the Jewish genetic diseases. Disorder
Carrier
Rate
Detection
Rate
Bloom Syndrome
1 in 100
99%
Canavan Disease
1 in 50
98%
Cystic Fibrosis
1 in 25
97%
Dihydrolipoamide
Dehydrogenase Deficiency
1 in 95
99%
Familial Dysautonomia
1 in 30
99%
Familial Hyperinsulinism
1 in 65
90%
Fanconi Anemia, Group C
1 in 90
99%
Gaucher Disease, Type 1
1 in 15
95%
Description/Average Life Expectancy (ALE)
A disorder characterized by short stature, sun-sensitive facial skin lesions,
increased susceptibility to infections and an increased incidence of leukemias
and other cancers. (ALE: 27y)
A progressive neurologic disorder leading to brain and nervous system
degeneration. Symptoms begin in infancy with loss of early developmental skills
and may include poor muscle tone, feeding difficulties and seizures. (ALE:
Teenage years)
A chronic disorder affecting primarily the respiratory, digestive and reproductive
systems. Thick, sticky mucus in the lungs and intestinal tract lead to recurrent
lung infections and impaired digestion; infertility is common. (ALE: 37y)
A disorder presenting in early infancy with poor feeding, frequent episodes of
vomiting, lethargy and developmental delay. As the disease progresses, affected
individuals develop seizures, enlarged liver, blindness and ultimately suffer an
early death. (ALE: Unknown, due to rarity)
A disorder that affects the autonomic and sensory nervous systems. Symptoms
include impaired pain perception, vomiting, and absence of tears. Blood
pressure and body temperature are often unstable. Recurrent pneumonias and
poor growth are frequent complications. (ALE: 20y)
A disease characterized by hypoglycemia that can vary from mild to severe. It
can present in the immediate newborn period through the first year of life with
symptoms such as seizures, poor muscle tone, poor feeding and sleep disorders.
If left untreated, it can lead to irreversible neurological damage or death. (ALE:
Normal, if managed properly; fatal if untreated)
A blood disorder associated with bone marrow failure as well as a predisposition
to leukemia and other cancers. Short stature is common. Some children have
heart, kidney and limb abnormalities. Learning difficulties and mental retardation
may occur as well. (ALE: 30y)
The most prevalent of the Jewish genetic diseases, associated with enlargement
of the liver and spleen, anemia, fatigue, bruising, bleeding, bone pain and
fractures. Symptoms are highly variable in age of onset and severity. Enzyme
replacement treatment is available. (ALE: Normal, with treatment)
Continued …. Jewish Genetic Diseases (continued) Description/Average Life Expectancy (ALE)
Disorder
Carrier
Rate
Detection
Rate
Glycogen Storage Disease,
Type 1A
1 in 70
99%
Joubert Syndrome 2
1 in 90
99%
Maple Syrup Urine Disease
1 in 80
99%
Mucolipidosis IV
1 in 125
96%
Nemaline Myopathy
1 in 110
99%
Niemann-Pick Disease,
Type A
1 in 90
97%
A neurodegenerative disorder resulting from the accumulation of a fatty
substance in the liver, spleen, brain and lungs. Symptoms include failure to
thrive in early childhood, with mental and physical deterioration. (ALE: 2–3y)
Spinal Muscular Atrophy
1 in 40
90%
Tay-Sachs Disease
1 in 30
92%
Usher Syndrome, Type 1F
1 in 140
75%
Usher Syndrome, Type III
1 in 105
98%
Spinal muscular atrophy (SMA) occurs in several forms, depending on the age of
onset and the severity of the disease. Individuals affected with SMA have
progressive muscle degeneration and weakness, eventually leading to death.
(ALE: Variable, depending on severity of presentation)
A progressive disorder involving the nervous system with symptoms usually
appearing during the first 6 to 8 months of life. Deterioration is generally rapid,
including blindness, deafness, seizures and mental retardation.
(ALE: 5y)
Usher Syndrome 1F is characterized by profound hearing loss that is present at
birth, and adolescent-onset retinitis pigmentosa, a disorder that significantly
impairs vision. Affected individuals usually require cochlear implants to help with
speech development. (ALE: Normal)
Usher Syndrome Type III is milder than type 1F, but likewise leads to progressive
hearing and vision loss. While there is no treatment for Usher Syndrome Type
III, hearing loss can be managed with hearing aids and possible cochlear
implant. (ALE: Normal)
A metabolic disorder associated with low blood sugar levels, enlarged liver,
anemia, bleeding and growth failure. Treatment requires lifelong and strict diet
modification. (ALE: Normal, with management of symptoms)
A disease characterized by structural brain malformations. Affected individuals
have developmental delay, decreased muscle tone, abnormal eye movements,
and characteristic facial features. Additionally, there may be kidney and liver
abnormalities as well as retinal problems. (ALE: Variable, depending on severity
of presentation)
A disease of amino acid metabolism leading to characteristic maple syrup odor of
the urine. Symptoms, in the absence of diagnosis and treatment, include
irritability, lethargy, seizures and coma. (ALE: Normal, with strict dietary
management, though high risk remains during episodes of extreme stress or
illness)
A disorder of the brain and nervous system with symptoms starting in the first
year of life. Mental and physical retardation are typical as are eye problems with
impaired vision. Severity of the disorder is variable. (ALE: Unknown; reduced,
with current reported cases ranging from 1y to 45y)
A disease characterized by muscle weakness, decreased muscle tone, and
depressed or absent deep tendon reflexes. In the more severe forms, respiratory
distress and feeding as well as swallowing difficulties are common and can lead
to early death. (ALE: Normal, with aggressive and proactive care of respiratory
problems)
Continued… Sephardic/Mizrachi Jewish Genetic Diseases Sephardic Jews face different genetic disorders based on their country of origin. The list of diseases mentioned here is only a partial list (but most commonly found) in Jews of North African, Middle Eastern, Italian, Persian or Iraqi descent. Potential parents are highly encouraged to seek out genetic counseling to discuss testing options for their particular situations.* Beta Thalassemia Familial Mediterranean Fever G6PD Deficiency Wolman Disease ** For further information, please refer to the Chicago Center for Jewish Genetic Disorders (jewishgenetics.org)