Concept information
Preferred term
Tay-Sachs Disease
Type
-
mesh:Descriptor
Definition
- 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. An outdated term for Tay-Sachs disease.
Broader concept
Entry terms
- B Variant GM2 Gangliosidosis
- B Variant GM2-Gangliosidosis
- Deficiency Disease Hexosaminidase A
- Gangliosidosis GM2, B Variant
- Gangliosidosis GM2 , Type 1
- Gangliosidosis G(M2), Type I
- Gangliosidosis GM2, Type I
- GM2 Gangliosidosis, B Variant
- GM2 Gangliosidosis, Type 1
- GM2 Gangliosidosis, Type I
- GM2-Gangliosidosis, Type I
- G(M2) Gangliosidosis, Type I
- Hexosaminidase A Deficiency Disease
- Sphingolipidosis, Tay-Sachs
- Tay-Sachs Disease, B Variant
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Déficit en hexosaminidase A
-
Gangliosidose à GM2 de type 1
-
Gangliosidose à GM2 de type I
-
Gangliosidose à GM2 variante B
URI
http://data.loterre.fr/ark:/67375/JVR-LX79MV30-F
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