- Concept UI
- M0021080
- 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.
- Terms
-
Tay-Sachs Disease
Preferred Term
Term UI
T040131
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Gangliosidosis G(M2), Type I
Term UI
T040129
Date05/22/1978
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Gangliosidosis GM2, Type I
Term UI
T040130
Date09/13/1990
LexicalTag
NON
ThesaurusID
NLM (1992)
-
GM2 Gangliosidosis, Type I
Term UI
T370736
Date11/03/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Hexosaminidase A Deficiency Disease
Term UI
T370737
Date11/03/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Deficiency Disease Hexosaminidase A
Term UI
T370738
Date11/03/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Tay-Sachs Disease, B Variant
Term UI
T646886
Date07/26/2005
LexicalTag
EPO
ThesaurusID
NLM (2007)
-
GM2 Gangliosidosis, B Variant
Term UI
T646887
Date07/26/2005
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Gangliosidosis GM2, B Variant
Term UI
T649281
Date08/23/2005
LexicalTag
NON
ThesaurusID
NLM (2007)
-
GM2 Gangliosidosis, Type 1
Term UI
T752846
Date06/16/2009
LexicalTag
NON
ThesaurusID
-
B Variant GM2 Gangliosidosis
Term UI
T752847
Date06/16/2009
LexicalTag
NON
ThesaurusID
-
Gangliosidosis GM2 , Type 1
Term UI
T752848
Date06/16/2009
LexicalTag
NON
ThesaurusID
-
Sphingolipidosis, Tay-Sachs
Term UI
T752849
Date06/16/2009
LexicalTag
EPO
ThesaurusID
-
B Variant GM2-Gangliosidosis
Term UI
T825153
Date06/27/2012
LexicalTag
ABX
ThesaurusID
OMIM (2013)
-
G(M2) Gangliosidosis, Type I
Term UI
T040128
Date10/18/1990
LexicalTag
NON
ThesaurusID
NLM (1992)
-
GM2-Gangliosidosis, Type I
Term UI
T825154
Date06/27/2012
LexicalTag
ABX
ThesaurusID
OMIM (2013)