Tay-Sachs Disease
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.
Year introduced: 1979
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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
MeSH Unique ID: D013661
Entry Terms:
- Tay Sachs Disease
- GM2-Gangliosidosis, Type I
- Type I GM2-Gangliosidosis
- Gangliosidosis GM2, Type I
- GM2 Gangliosidosis, Type I
- Hexosaminidase A Deficiency Disease
- Deficiency Disease Hexosaminidase A
- Tay-Sachs Disease, B Variant
- Tay Sachs Disease, B Variant
- GM2 Gangliosidosis, B Variant
- Gangliosidosis GM2, B Variant
- GM2 Gangliosidosis, Type 1
- B Variant GM2 Gangliosidosis
- Gangliosidosis GM2 , Type 1
- Sphingolipidosis, Tay-Sachs
- Sphingolipidosis, Tay Sachs
- Tay-Sachs Sphingolipidosis
- B Variant GM2-Gangliosidosis
- B Variant GM2-Gangliosidoses
- GM2-Gangliosidosis, B Variant
- G(M2) Gangliosidosis, Type I
- Gangliosidosis G(M2), Type I
- Hexosaminidase alpha-Subunit Deficiency (Variant B)
- Deficiency, Hexosaminidase alpha-Subunit (Variant B)
- Hexosaminidase alpha Subunit Deficiency (Variant B)
- HexA Deficiency
- Hexosaminidase A Deficiency
- Deficiency, Hexosaminidase A
- Amaurotic Familial Idiocy
- Familial Amaurotic Idiocy
- Amaurotic Idiocy, Familial
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