" /> Tay-sachs disease - CISMeF





Preferred Label : Tay-sachs disease;

Symbol : TSD;

CISMeF acronym : TSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hexosaminidase a deficiency; B variant gm2-gangliosidosis; Gm2-gangliosidosis, type I; Hexa deficiency;

Included titles and symbols : Tay-sachs disease, juvenile; Gm2-gangliosidosis, variant b1; Gm2-gangliosidosis, adult chronic type; Hexosaminidase a deficiency, adult type; Tay-sachs disease, variant b1; Tay-sachs disease, pseudo-ab variant;

Description : Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the hexosaminidase A, alpha polypeptide gene (HEXA, 272800.0001);

Laboratory abnormalities : Gm2-ganglioside accumulation; Ballooned neurons; Hexosaminidase A deficiency;

Prefixed ID : #272800;

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27/07/2025


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