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Disease Tay-Sachs Disease

Name Tay-Sachs Disease
Synonyms Amaurotic Familial Idiocy | Amaurotic Idiocy, Familial | B Variant GM2-Gangliosidoses | B Variant GM2 Gangliosidosis | B Variant GM2-Gangliosidosis | Deficiency Disease Hexosaminidase A | Deficiency, Hexosaminidase A | Deficiency, Hexosaminidase alpha-Subunit (Variant B) | Familial Amaurotic Idiocy | Gangliosidosis GM2, B Variant | Gangliosidosis GM2 , Type 1 | Gangliosidosis G(M2), Type I | Gangliosidosis GM2, Type I | GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED | GM2 Gangliosidosis, B Variant | GM2-Gangliosidosis, B Variant | GM2 Gangliosidosis, Type 1 | G(M2) Gangliosidosis, Type I | GM2 Gangliosidosis, Type I | GM2-Gangliosidosis, Type I | GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED | HexA Deficiency | HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE, INCLUDED | Hexosaminidase A Deficiency | HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED | Hexosaminidase A Deficiency Disease | Hexosaminidase alpha Subunit Deficiency (Variant B) | Hexosaminidase alpha-Subunit Deficiency (Variant B) | Sphingolipidosis, Tay Sachs | Sphingolipidosis, Tay-Sachs | Tay Sachs Disease | Tay Sachs Disease, B Variant | Tay-Sachs Disease, B Variant | TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED | TAY-SACHS DISEASE, VARIANT B1, INCLUDED | Tay-Sachs Sphingolipidosis | TSD | Type I GM2-Gangliosidosis
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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D013661
OMIM® ID 272800
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Tay-Sachs Disease Has associated chemicals Has associated genes
  Gm2-Gangliosidosis, Adult Chronic Type
  Gm2-Gangliosidosis, Variant B1
  Hexosaminidase A Deficiency, Adult Type
  Tay-Sachs Disease, Juvenile
  Tay-Sachs Disease, Pseudo-AB Variant
  Tay-Sachs Disease, Variant B1