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Tay-Sachs Disease MeSH Descriptor Data 2023


MeSH Heading
Tay-Sachs Disease
Tree Number(s)
C10.228.140.163.100.435.825.300.300.500
C16.320.565.189.435.825.300.300.500
C16.320.565.398.641.803.350.300.850
C16.320.565.595.554.825.300.300.840
C18.452.132.100.435.825.300.300.500
C18.452.584.563.641.803.350.300.850
C18.452.648.189.435.825.300.300.500
C18.452.648.398.641.803.350.300.850
C18.452.648.595.554.825.300.300.840
Unique ID
D013661
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D013661
Annotation
TAY-SACHS DISEASE, AB VARIANT is also available
Scope Note
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.
Entry Version
TAY SACHS DIS
Entry Term(s)
Amaurotic Familial Idiocy
B Variant GM2 Gangliosidosis
B Variant GM2-Gangliosidosis
Deficiency Disease Hexosaminidase A
Familial Amaurotic Idiocy
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
HexA Deficiency
Hexosaminidase A Deficiency
Hexosaminidase A Deficiency Disease
Hexosaminidase alpha-Subunit Deficiency (Variant B)
Sphingolipidosis, Tay-Sachs
Tay-Sachs Disease, B Variant
NLM Classification #
QU 265.5.L5
Previous Indexing
Lipoidosis (1966-1978)
See Also
beta-N-Acetylhexosaminidases
Public MeSH Note
1979; see AMAUROTIC FAMILIAL IDIOCY 1963-1978; for AMAUROTIC FAMILIAL IDIOCY see LIPOIDOSIS 1985-2006, see AMAUROTIC FAMILIAL IDIOCY 1963-1978
History Note
1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006
Date Established
1979/01/01
Date of Entry
1978/05/22
Revision Date
2021/07/01
Tay-Sachs Disease Preferred
Hexosaminidase alpha-Subunit Deficiency (Variant B) Related
Amaurotic Familial Idiocy Narrower
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