Diseases

Tay-Sachs Disease

An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

31 entry terms
  • B Variant GM2 Gangliosidosis
  • B Variant GM2-Gangliosidosis
  • Deficiency Disease Hexosaminidase A
  • G(M2) Gangliosidosis, Type I
  • GM2 Gangliosidosis, B Variant
  • GM2 Gangliosidosis, Type 1
  • GM2 Gangliosidosis, Type I
  • GM2-Gangliosidosis, Type I
  • Gangliosidosis G(M2), Type I
  • Gangliosidosis GM2 , Type 1
  • Gangliosidosis GM2, B Variant
  • Gangliosidosis GM2, Type I
  • Hexosaminidase A Deficiency Disease
  • Sphingolipidosis, Tay-Sachs
  • Tay-Sachs Disease, B Variant
  • B Variant GM2-Gangliosidoses
  • GM2-Gangliosidosis, B Variant
  • Sphingolipidosis, Tay Sachs
  • Tay Sachs Disease
  • Tay Sachs Disease, B Variant
  • Tay-Sachs Sphingolipidosis
  • Type I GM2-Gangliosidosis
  • Amaurotic Familial Idiocy
  • Familial Amaurotic Idiocy
  • HexA Deficiency
  • Hexosaminidase A Deficiency
  • Hexosaminidase alpha-Subunit Deficiency (Variant B)
  • Amaurotic Idiocy, Familial
  • Deficiency, Hexosaminidase A
  • Deficiency, Hexosaminidase alpha-Subunit (Variant B)
  • Hexosaminidase alpha Subunit Deficiency (Variant B)

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

Indexing Annotation

TAY-SACHS DISEASE, AB VARIANT is also available

MeSH Record

History Note

1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006

MeSH Record

Previous Indexing

  • Lipoidosis (1966-1978)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.825w.300w.300w.500w
  2. C16w.320w.565w.189.435.825w.300w.300w.500w
  3. C16w.320w.565w.398w.641w.803w.350w.300w.850w
  4. C16w.320w.565w.595w.554.825w.300w.300w.840w
  5. C18.452w.132.100.435.825w.300w.300w.500w
  6. C18.452w.584w.563w.641w.803w.350w.300w.850w
  7. C18.452w.648w.189.435.825w.300w.300w.500w
  8. C18.452w.648w.398w.641w.803w.350w.300w.850w
  9. C18.452w.648w.595w.554.825w.300w.300w.840w

MeSH Record

NLM Classification

QU 265.5.L5

AMA Style

References

  1. National Library of Medicine. Tay-Sachs Disease. Medical Subject Headings (MeSH). 2026. Unique ID D013661. http://id.nlm.nih.gov/mesh/2026/D013661
  2. Tay-Sachs Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease
  3. Tay-Sachs Disease. In: Wikidata. https://www.wikidata.org/wiki/Q560337