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Tay-Sachs disease, b variant, juvenile form

MedGen UID:: 1842854
•Concept ID:: C5679975
•: Disease or Syndrome

Synonyms:	GM2 gangliosidosis, B variant, juvenile form; Hexosaminidase A deficiency, juvenile form; hexosaminidase A deficiency, juvenile form; Tay-Sachs disease, B variant, juvenile form

Monarch Initiative:	MONDO:0017725
Orphanet:	ORPHA309185

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTay-Sachs disease, b variant, juvenile form

Ashkenazi Jewish disorders
- Tay-Sachs disease
  - Tay-Sachs disease, b variant, juvenile form

Recent clinical studies

Etiology

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Tanaka A, Hoang LT, Nishi Y, Maniwa S, Oka M, Yamano T
J Hum Genet 2003;48(11):571-4. Epub 2003 Oct 18 doi: 10.1007/s10038-003-0080-9. PMID: 14566483

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