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Tay-Sachs Disease, AB Variant MeSH Descriptor Data 2022


MeSH Heading
Tay-Sachs Disease, AB Variant
Tree Number(s)
C10.228.140.163.100.435.825.300.300.750
C16.320.565.189.435.825.300.300.750
C16.320.565.398.641.803.350.300.925
C16.320.565.595.554.825.300.300.920
C18.452.132.100.435.825.300.300.750
C18.452.584.563.641.803.350.300.925
C18.452.648.189.435.825.300.300.750
C18.452.648.398.641.803.350.300.925
C18.452.648.595.554.825.300.300.920
Unique ID
D049290
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D049290
Scope Note
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.
Entry Term(s)
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
Previous Indexing
Gangliosidoses (2000-2004)
See Also
G(M2) Activator Protein
Public MeSH Note
2005; see GANGLIOSIDOSES GM2 2000-2004
History Note
2005(2000); use GANGLIOSIDOSES GM2 2000-2004
Date Established
2005/01/01
Date of Entry
2004/07/07
Revision Date
2021/07/01
Tay-Sachs Disease, AB Variant Preferred
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