Tay-Sachs Disease


Amaurotic Familial Idiocy

Amaurotic Idiocy, Familial

B Variant GM2 Gangliosidosis

B Variant GM2-Gangliosidoses

B Variant GM2-Gangliosidosis

Deficiency Disease Hexosaminidase A

Deficiency, Hexosaminidase A

Deficiency, Hexosaminidase alpha-Subunit (Variant B)

Familial Amaurotic Idiocy

G(M2) Gangliosidosis, Type I

GM2 Gangliosidosis, B Variant

GM2 Gangliosidosis, Type 1

GM2 Gangliosidosis, Type I

GM2-Gangliosidosis, B Variant

GM2-Gangliosidosis, Type I

Gangliosidosis G(M2), Type I

Gangliosidosis GM2 , Type 1

Gangliosidosis GM2, B Variant

Gangliosidosis GM2, Type I

HexA Deficiency

Hexosaminidase A Deficiency

Hexosaminidase A Deficiency Disease

Hexosaminidase alpha Subunit Deficiency (Variant B)

Hexosaminidase alpha-Subunit Deficiency (Variant B)

Sphingolipidosis, Tay Sachs

Sphingolipidosis, Tay-Sachs

Tay Sachs Disease

Tay Sachs Disease, B Variant

Tay-Sachs Disease, B Variant

Tay-Sachs Sphingolipidosis

Type I GM2-Gangliosidosis

An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.