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. Please consult with a physician or with a genetic counselor for guidance on genetic screening and testing for proper diagnosis and treatment.

Ashkenazi Jewish

The Ashkenazi Jewish Genetic Panel (AJGP) at Mount Sinai screens for the diseases listed below plus Cystic Fibrosis and Fragile X. The chance that someone of 100% Ashkenazi descent carries one of the diseases in the panel is 1 in 2.

Alport Syndrome
Arthrogryposis Multiplex Congenita
Bardet-Biedl Syndrome
Bloom Syndrome
Canavan Disease
Carnitine Palmitoyltransferase II Deficiency
Congenital Amegakaryocytic Thrombocytopenia*
Congenital Disorder of Glycosylation Ia
Dyskeratosis Congenita*
Ehlers-Danlos VIIC*
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
3-Phospoglycerate Dehydrogenase Deficiency*
Polycystic Kidney Disease*
Retinitis Pigmentosa 59*
Smith-Limli-Opitz Syndrome*
Spinal Muscular Atrophy*
Tay-Sachs Disease (also more frequent among French Canadians, Cajuns, and people of Irish/British descent)
Tyrosinemia I*
Usher Syndrome (IF & III)
Walker-Warburg Syndrome
Wilson Disease*
Zellweger Syndrome*

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

Photo by Andre Helmstetter