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.

Also Known As:

Amaurotic Familial Idiocy; B Variant GM2 Gangliosidosis; B Variant GM2-Gangliosidosis; Deficiency Disease Hexosaminidase A; Familial Amaurotic Idiocy; GM2 Gangliosidosis, B Variant; GM2 Gangliosidosis, Type 1; GM2 Gangliosidosis, Type I; GM2-Gangliosidosis, Type I; Gangliosidosis GM2 , Type 1; Gangliosidosis GM2, Type I; HexA Deficiency; Hexosaminidase A Deficiency; Hexosaminidase alpha-Subunit Deficiency (Variant B); Sphingolipidosis, Tay-Sachs; Amaurotic Idiocy, Familial; B Variant GM2-Gangliosidoses; Deficiency, Hexosaminidase A; Deficiency, Hexosaminidase alpha-Subunit (Variant B); GM2-Gangliosidosis, B Variant; Hexosaminidase alpha Subunit Deficiency (Variant B); Sphingolipidosis, Tay Sachs; Tay Sachs Disease; Tay Sachs Disease, B Variant; Tay-Sachs Sphingolipidosis; Type I GM2-Gangliosidosis; G(M2) Gangliosidosis, Type I; Gangliosidosis G(M2), Type I; Gangliosidosis GM2, B Variant; Hexosaminidase A Deficiency Disease; Tay-Sachs Disease, B Variant

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Gangliosidoses: 142
        GM2 Gangliosidoses: 269
        Tay-Sachs Disease: 494

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