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

Preferred term

Tay-Sachs Disease, AB Variant  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Scope note

  • 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.

History note

  • 2005(2000); use GANGLIOSIDOSES GM2 2000-2004

In other languages

URI

http://www.yso.fi/onto/mesh/D049290

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