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;
Origin ID : 272800;
UMLS CUI : C0039373;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
