Orphanet: GM2 gangliosidosis B B1 variant

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Tay-Sachs disease

Disease definition

A rare disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A deficiency.


Classification level: Disorder
  • Synonym(s):
    • GM2 gangliosidosis, B, B1 variant
    • Hexosaminidase A deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E75.0
  • OMIM: 272800
  • UMLS: C0039373  C1848922
  • MeSH: D013661
  • GARD: 7737
  • MedDRA: 10043147

Detailed information

Article for general public


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