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.
推出的年份: 1979
树号: 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 单一 ID: D013661
进入的组:
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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