List of Ashkenazi Genetic Diseases

Carrier rate Carrier rate Incidence rate Incidence rate
Name of Disease Ashkenazi Gen Pop Ashkenazi Gen. Pop
1 Bloom Syndrome 1/100 1:46,000 Very rare
2 Canavan Disease 1/40 1:13,000 Very rare
3 Cystic Fibrosis 1/24 1:3000
4 Familial Dysautonomia 1/31 1:3,600 Very rare
5 Familial Hyperinsulinism 1/52 1:18,000
6 Fanconi Anemia C 1/89 1:32,000 Rare
7 Gaucher Disease 1/18 1:200 1:900 1:60,000
8 Glycogen Storage Disease 1A 1/71 1:20,000
9 Joubert Syndrome 2 1/110 1:34,000
10 Lipoamide Dehydrogenase Deficiency (E3) 1/107
11 Maple Syrup Urine Disease 1B 1/81 1:27,600 1:290,000
12 Mucolipidosis IV 1/127
13 Nemaline Myopathy 1/108 1:47,000
14 Niemann-Pick Disease 1/90 1:30,000 1:100,000
15 Spinal Muscular Atrophy 1/41
16 Tay-Sachs Disease 1/31 1:300 1:3600 1:300,000
17 Usher IF 1/141 1:80,000
18 Usher III 1/107 1:45,000
19 Walker Warburg 1/120

Listed below are important sources of information about Ashkenazi Genetic Diseases

Education.med.nyu.edu Tay-Sacks Disease: Diagnosis, Testing, and Prevention
Emory University School of Medicine Ashkenazi Jewish Comprehensive Carrier Screening
Feinsteininstitute.org Researchers Discover Five Genetic Variations Associated with Crohn’s Disease in Ashkenazi Jews
Ichan shcool of medicine Ashkenazi Jewish Carrier Genetic Testing
Jewishgeneticdiseases.org Ashkenazi Jewish Genetic Diseases: 38 Disease Panel
Jewishgeneticdiseases.org Ashkenazi Jewish genetic disease screening with panels varying from 19-38 diseases
Jewishjournal.com Is there a link between Parkinson’s and Ashkenazi Jews?
Jewishmag.com Common Genetic Diseases in the Ashkenazi Jewish Population
Jewsihgenetics.org Ashkenazi Genetic Traits
John Hopkins Medicine increased risk of pancreatic cancer in individuals of Ashkenazi Jewish descent has a genetic basis.
Kaizer Permanente What Are Ashkenazi Jewish Genetic Diseases?
kveller.com Guide to Ashkenazi Genetic Diseases
Moment Magazine Ashkenazi Genetic Diseases
Mount Sinai center for Jewish Genetic Diseases Tay-Sacks Disease: Diagnosis, Testing, and Prevention
Mountsinai.org Ashkenazi Jewish individuals are expected to be identified as carriers of at least one of the 38 diseases
progenity.com 1 in 4 Ashkenazi Jews carries a genetic disorder
templebeth-el.com Jewish Genetic Diseases Overview, FAQs and Resources
The Jewish Forward Genetic Diseases Affecting Ashkenazi Jews
UCSF Medical Center Because Ashkenazi married within their own ethnic group, these mutations increased in frequency over generations.
US News & World Report Crohn’s Disease: Jews of Eastern European descent are more likely to have the inflammatory bowel condition
Washington.edu Carrier Testing for Individuals with Ashkenazi Jewish background
WEBMD.com Ashkenazi Jewish Genetic Panel (AJGP)
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List of Ashkenazi Genetic Diseases