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Sandhoff Disease MeSH Descriptor Data 2023


MeSH Heading
Sandhoff Disease
Tree Number(s)
C10.228.140.163.100.435.825.300.300.249
C16.320.565.189.435.825.300.300.249
C16.320.565.398.641.803.350.300.700
C16.320.565.595.554.825.300.300.800
C18.452.132.100.435.825.300.300.249
C18.452.584.563.641.803.350.300.700
C18.452.648.189.435.825.300.300.249
C18.452.648.398.641.803.350.300.700
C18.452.648.595.554.825.300.300.800
Unique ID
D012497
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D012497
Scope Note
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.
Entry Version
SANDHOFF DIS
Entry Term(s)
Adult Sandhoff Disease
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
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
Sandhoff's Disease
Sandhoff-Jatzkewitz-Pilz Disease
Total Hexosaminidase Deficiency
beta-Hexosaminidase-beta-Subunit Deficiency
Previous Indexing
G(M2) Ganglioside (1975-1978)
Gangliosides (1966-1978)
Gangliosidosis (1976-1978)
Hexosaminidases (1971-1978)
Lipoidosis (1966-1978)
Sphingolipidosis (1974-1978)
See Also
beta-N-Acetylhexosaminidases
Public MeSH Note
1979
History Note
1979
Date Established
1979/01/01
Date of Entry
1978/05/22
Revision Date
2021/06/02
Sandhoff Disease Preferred
Total Hexosaminidase Deficiency Related
Juvenile Sandhoff Disease Narrower
Adult Sandhoff Disease Narrower
Infantile Sandhoff Disease Narrower
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