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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
... > 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 > Lipid Metabolism, Inborn Errors > Lipidoses > 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
... > 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
... > 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 > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > 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

Terme préférentiel

Tay-Sachs Disease  

Type

  • mesh:Descriptor

Définition

  • 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. An outdated term for Tay-Sachs disease.

Concept générique

Concepts associés

Synonyme(s)

  • 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, Type 1
  • GM2 Gangliosidosis, Type I
  • GM2-Gangliosidosis, Type I
  • G(M2) Gangliosidosis, Type I
  • Hexosaminidase A Deficiency Disease
  • Sphingolipidosis, Tay-Sachs
  • Tay-Sachs Disease, B Variant

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Tay-Sachs

    français

  • Déficit en hexosaminidase A
  • Gangliosidose à GM2 de type 1
  • Gangliosidose à GM2 de type I
  • Gangliosidose à GM2 variante B

URI

http://data.loterre.fr/ark:/67375/JVR-LX79MV30-F

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RDF/XML TURTLE JSON-LD Date de création 22/05/1978, dernière modification le 01/07/2021