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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease

Preferred term

Tay-Sachs Disease  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • B Variant GM2-Gangliosidoses
  • 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, 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
  • Sphingolipidosis, Tay-Sachs
  • Tay Sachs Disease, B Variant
  • Tay-Sachs Disease, B Variant
  • Tay-Sachs Sphingolipidosis
  • Type I GM2-Gangliosidosis

Note

  • TAY-SACHS DISEASE, AB VARIANT is also available

Scope note

  • 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.

History note

  • 1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006

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URI

http://www.yso.fi/onto/mesh/D013661

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