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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, AB Variant
... > 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, AB Variant
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease, AB Variant
... > 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, AB Variant
... > 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, AB Variant
... > 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, AB Variant
... > 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, AB Variant
... > 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, AB Variant
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gangliosidoses > Gangliosidoses, GM2 > Tay-Sachs Disease, AB Variant

Terme préférentiel

Tay-Sachs Disease, AB Variant  

Type

  • mesh:Descriptor

Définition

  • A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

Concept générique

Concepts associés

Synonyme(s)

  • AB Variant Gangliosidosis GM2
  • AB Variant GM2-Gangliosidosis
  • Activator Deficiency GM2 Gangliosidosis
  • Activator-Deficient Tay-Sachs Disease
  • Deficiency Disease, GM2 Protein Activator
  • Gangliosidosis GM2, AB Variant
  • Gangliosidosis GM2, Type AB
  • GM2 Activator Deficiency
  • GM2 Activator Deficiency Disease
  • GM2-Gangliosidosis, AB Variant
  • GM2 Gangliosidosis, Type AB
  • GM2 Protein Activator Deficiency Disease
  • Hexosaminidase Activator Deficiency
  • Hexosaminidase Activator Protein Deficiency Disease

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-JBLPRCS1-P

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RDF/XML TURTLE JSON-LD Date de création 07/07/2004, dernière modification le 01/07/2021