Diseases

Sandhoff Disease

An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

34 entry terms
  • Deficiency Disease, Hexosaminidase A and B
  • G(M2) Gangliosidosis, Type II
  • GM2 Gangliosidosis, Type 2
  • GM2 Gangliosidosis, Type II
  • GM2-Gangliosidosis, Type II
  • Gangliosidosis G(M2), Type II
  • Gangliosidosis GM2, Type II
  • Hexosaminidase A and B Deficiency Disease
  • Hexosaminidases A And B Deficiency
  • Sandhoff's Disease
  • Sandhoff-Jatzkewitz-Pilz Disease
  • Disease, Sandhoff-Jatzkewitz-Pilz
  • GM2-Gangliosidoses, Type II
  • Sandhoff Jatzkewitz Pilz Disease
  • Sandhoffs Disease
  • Type II GM2-Gangliosidoses
  • Type II GM2-Gangliosidosis
  • Adult Sandhoff Disease
  • Infantile Sandhoff Disease
  • Juvenile Sandhoff Disease
  • Sandhoff Disease, Adult
  • Sandhoff Disease, Adult Type
  • Sandhoff Disease, Infantile
  • Sandhoff Disease, Infantile Type
  • Sandhoff Disease, Juvenile
  • Sandhoff Disease, Juvenile Type
  • Total Hexosaminidase Deficiency
  • beta-Hexosaminidase-beta-Subunit Deficiency
  • Deficiency, Total Hexosaminidase
  • Deficiency, beta-Hexosaminidase-beta-Subunit
  • Hexosaminidase Deficiency, Total
  • Total Hexosaminidase Deficiencies
  • beta Hexosaminidase beta Subunit Deficiency
  • beta-Hexosaminidase-beta-Subunit Deficiencies

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

1979

MeSH Record

Previous Indexing

  • G(M2) Ganglioside (1975-1978)
  • Gangliosides (1966-1978)
  • Gangliosidosis (1976-1978)
  • Hexosaminidases (1971-1978)
  • Lipoidosis (1966-1978)
  • Sphingolipidosis (1974-1978)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.825w.300w.300w.249w
  2. C16w.320w.565w.189.435.825w.300w.300w.249w
  3. C16w.320w.565w.398w.641w.803w.350w.300w.700w
  4. C16w.320w.565w.595w.554.825w.300w.300w.800w
  5. C18.452w.132.100.435.825w.300w.300w.249w
  6. C18.452w.584w.563w.641w.803w.350w.300w.700w
  7. C18.452w.648w.189.435.825w.300w.300w.249w
  8. C18.452w.648w.398w.641w.803w.350w.300w.700w
  9. C18.452w.648w.595w.554.825w.300w.300w.800w

AMA Style

References

  1. National Library of Medicine. Sandhoff Disease. Medical Subject Headings (MeSH). 2026. Unique ID D012497. http://id.nlm.nih.gov/mesh/2026/D012497
  2. Sandhoff Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Sandhoff_disease
  3. Sandhoff Disease. In: Wikidata. https://www.wikidata.org/wiki/Q917227