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.

Mount Sinai offers a pan-ethnic genetic testing panel that screens for 281 genetic diseases. For more information visit Mount Sinai’s NextStep website.


There are several genetic disease mutations that occur at increased frequencies in the Ashkenazi Jewish (Central & Eastern European), Sephardi Jewish (Southern European and Northern African), and Mizrahi Jewish (Middle Eastern/Arab) populations. The Mount Sinai Comprehensive Jewish Carrier Screening Panel covers 96 conditions that fall into this category. Some disorders are specific to one of the 3 sub-populations; however, there are certain diseases that are relevant to all Jewish sub-groups. Because these disorders are inherited in an autosomal recessive or X-linked manner, if you are of Jewish descent you may be at risk for being a carrier for a genetic disorder without even knowing it. Some of the most common diseases are listed below.

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
Galactosemia (also more frequent among people of Irish descent)
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 (also more frequent in Norwegians, Finnish, French Canadians)
Usher Syndrome (IF & III)
Walker-Warburg Syndrome
Wilson Disease
Zellweger Syndrome

Photo by Andre Helmstetter