Diseases

AB Variant Tay-Sachs Disease

A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

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Synonyms

38 entry terms
  • AB Variant GM2-Gangliosidosis
  • AB Variant Gangliosidosis GM2
  • Activator Deficiency GM2 Gangliosidosis
  • Activator-Deficient Tay-Sachs Disease
  • Deficiency Disease, GM2 Protein Activator
  • GM2 Activator Deficiency
  • GM2 Activator Deficiency Disease
  • GM2 Gangliosidosis, Type AB
  • GM2 Protein Activator Deficiency Disease
  • GM2-Gangliosidosis, AB Variant
  • Gangliosidosis GM2, AB Variant
  • Gangliosidosis GM2, Type AB
  • Hexosaminidase Activator Deficiency
  • Hexosaminidase Activator Protein Deficiency Disease
  • Tay-Sachs Disease, AB Variant
  • AB Variant GM2 Gangliosidosis
  • AB Variant GM2-Gangliosidoses
  • Activator Deficiencies, GM2
  • Activator Deficiencies, Hexosaminidase
  • Activator Deficiency, GM2
  • Activator Deficiency, Hexosaminidase
  • Activator Deficient Tay Sachs Disease
  • Activator-Deficient Tay-Sachs Diseases
  • Deficiencies, GM2 Activator
  • Deficiencies, Hexosaminidase Activator
  • Deficiency, GM2 Activator
  • Deficiency, Hexosaminidase Activator
  • Disease, Activator-Deficient Tay-Sachs
  • Diseases, Activator-Deficient Tay-Sachs
  • GM2 Activator Deficiencies
  • GM2 Gangliosidosis, AB Variant
  • GM2-Gangliosidoses, AB Variant
  • Hexosaminidase Activator Deficiencies
  • Tay Sachs Disease, AB Variant
  • Tay-Sachs Disease, Activator-Deficient
  • Tay-Sachs Diseases, Activator-Deficient
  • Variant GM2-Gangliosidoses, AB
  • Variant GM2-Gangliosidosis, AB

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2005(2000); use GANGLIOSIDOSES GM2 2000-2004

MeSH Record

Previous Indexing

  • Gangliosidoses (2000-2004)

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Tree Numbers

AMA Style

References

  1. National Library of Medicine. AB Variant Tay-Sachs Disease. Medical Subject Headings (MeSH). 2026. Unique ID D049290. http://id.nlm.nih.gov/mesh/2026/D049290
  2. AB Variant Tay-Sachs Disease. In: Wikipedia. https://en.wikipedia.org/wiki/GM2-gangliosidosis,_AB_variant
  3. AB Variant Tay-Sachs Disease. In: Wikidata. https://www.wikidata.org/wiki/Q5513688