Genetic Diseases

When you or a loved one is faced with a genetic disease it can be overwhelming, confusing and scary.

Genetic disorders run in families. While these diseases occur in all ethnic groups, some of them are far more common in certain populations than in others. To find out more information on a specific disease, including carrier frequencies, click on its name below.

Ashkenazi Jewish

The Ashkenazi Jewish Genetic Panel (AJGP) at Mount Sinai screens for all these diseases, plus Cystic Fibrosis. The chance that someone of 100% Ashkenazi descent will be a carrier of one of the diseases in the panel is 1 in 2.

Abetalipoproteinemia*
Alport Syndrome, Autosomal Recessive*
Arthrogryposis*
Bardet-Biedl Syndrome*
Bloom Syndrome
Canavan Disease
Familial Dysautonomia
Familial Hyperinsulinism
Fanconi Anemia
Gaucher Disease (Type I)
Glycogen Storage Disease Type 1a
Joubert Syndrome 2
Lipoamide Dehydrogenase Deficiency (E3)
Maple Syrup Urine Disease
Mucolipidosis Type IV
Nemaline Myopathy
Niemann-Pick Type A
Tay-Sachs Disease (also more frequent among French Canadians, Cajuns, and people of Irish/British descent)
Usher Syndrome
Walker-Warburg Syndrome



*These diseases were recently added to the AJGP at Mount Sinai. More information will be available here soon.

Photo by Andre Helmstetter