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Results 1 - 10 of 59 for Ashkenazi Jewish disorders
  1. Learning about Gaucher Disease From the National Institutes of Health (National Human Genome Research Institute)  
    Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
    https://www.genome.gov/Genetic-Disorders/Gaucher-Disease - External Health Links
  2. GBE1 gene 
    ... Z, Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. ... body disease: proton magnetic resonance spectroscopy of the brain and ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  3. Adult polyglucosan body disease 
    ... Z, Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. ... body disease: proton magnetic resonance spectroscopy of the brain and ...
    https://medlineplus.gov/.../adult-polyglucosan-body-disease - Genetics
  4. Canavan disease 
    ... backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  5. ASPA gene 
    ... gene mutations cause almost all cases of the disease in people of Ashkenazi Jewish descent. One of these mutations replaces the amino ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  6. Gaucher disease 
    ... general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It is an autosomal recessive disease. This means ...
    https://medlineplus.gov/ency/article/000564.htm - Medical Encyclopedia
  7. Dihydrolipoamide dehydrogenase deficiency 
    ... in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the ...
    https://medlineplus.gov/...dihydrolipoamide-dehydrogenase-deficiency - Genetics
  8. About Tay-Sachs Disease From the National Institutes of Health (National Human Genome Research Institute)  
    Tay-Sachs Disease/Start Here ... Tay-Sachs Disease ... National Human Genome Research Institute ... From the National Institutes of Health ... Tay-Sachs disease is a fatal ...
    https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease - External Health Links
  9. SMPD1 gene 
    ... of enzyme function tend to cause Niemann-Pick disease type A. In the Ashkenazi (eastern and central European) Jewish population, three mutations are responsible for about 90 ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  10. Canavan disease 
    ... children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost ...
    https://medlineplus.gov/ency/article/001586.htm - Medical Encyclopedia
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