Tay-Sachs Disease, AB Variant
"Tay-Sachs Disease, AB Variant" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D049290
|
MeSH Number(s) |
C10.228.140.163.100.435.825.300.300.750 C16.320.565.189.435.825.300.300.750 C16.320.565.398.641.803.350.300.925 C16.320.565.595.554.825.300.300.920 C18.452.132.100.435.825.300.300.750 C18.452.584.687.803.350.300.925 C18.452.648.189.435.825.300.300.750 C18.452.648.398.641.803.350.300.925 C18.452.648.595.554.825.300.300.920
|
Concept/Terms |
Tay-Sachs Disease, AB Variant- Tay-Sachs Disease, AB Variant
- Tay Sachs Disease, AB Variant
- Deficiency Disease, GM2 Protein Activator
- Gangliosidosis GM2, AB Variant
- Gangliosidosis GM2, Type AB
- GM2 Activator Deficiency
- Activator Deficiencies, GM2
- Activator Deficiency, GM2
- Deficiencies, GM2 Activator
- Deficiency, GM2 Activator
- GM2 Activator Deficiencies
- GM2 Activator Deficiency Disease
- GM2 Protein Activator Deficiency Disease
- GM2-Gangliosidosis, AB Variant
- GM2 Gangliosidosis, AB Variant
- Hexosaminidase Activator Deficiency
- Activator Deficiencies, Hexosaminidase
- Activator Deficiency, Hexosaminidase
- Deficiencies, Hexosaminidase Activator
- Deficiency, Hexosaminidase Activator
- Hexosaminidase Activator Deficiencies
- Hexosaminidase Activator Protein Deficiency Disease
- Activator-Deficient Tay-Sachs Disease
- Activator Deficient Tay Sachs Disease
- Activator-Deficient Tay-Sachs Diseases
- Disease, Activator-Deficient Tay-Sachs
- Diseases, Activator-Deficient Tay-Sachs
- Tay-Sachs Disease, Activator-Deficient
- Tay-Sachs Diseases, Activator-Deficient
- GM2 Gangliosidosis, Type AB
- Activator Deficiency GM2 Gangliosidosis
- AB Variant Gangliosidosis GM2
- AB Variant GM2-Gangliosidosis
- AB Variant GM2 Gangliosidosis
- AB Variant GM2-Gangliosidoses
- GM2-Gangliosidoses, AB Variant
- Variant GM2-Gangliosidoses, AB
- Variant GM2-Gangliosidosis, AB
|
Below are MeSH descriptors whose meaning is more general than "Tay-Sachs Disease, AB Variant".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Gangliosidoses [C10.228.140.163.100.435.825.300]
- Gangliosidoses, GM2 [C10.228.140.163.100.435.825.300.300]
- Tay-Sachs Disease, AB Variant [C10.228.140.163.100.435.825.300.300.750]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Gangliosidoses [C16.320.565.189.435.825.300]
- Gangliosidoses, GM2 [C16.320.565.189.435.825.300.300]
- Tay-Sachs Disease, AB Variant [C16.320.565.189.435.825.300.300.750]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Gangliosidoses [C16.320.565.398.641.803.350]
- Gangliosidoses, GM2 [C16.320.565.398.641.803.350.300]
- Tay-Sachs Disease, AB Variant [C16.320.565.398.641.803.350.300.925]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Gangliosidoses [C16.320.565.595.554.825.300]
- Gangliosidoses, GM2 [C16.320.565.595.554.825.300.300]
- Tay-Sachs Disease, AB Variant [C16.320.565.595.554.825.300.300.920]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Gangliosidoses [C18.452.132.100.435.825.300]
- Gangliosidoses, GM2 [C18.452.132.100.435.825.300.300]
- Tay-Sachs Disease, AB Variant [C18.452.132.100.435.825.300.300.750]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Gangliosidoses [C18.452.584.687.803.350]
- Gangliosidoses, GM2 [C18.452.584.687.803.350.300]
- Tay-Sachs Disease, AB Variant [C18.452.584.687.803.350.300.925]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Gangliosidoses [C18.452.648.189.435.825.300]
- Gangliosidoses, GM2 [C18.452.648.189.435.825.300.300]
- Tay-Sachs Disease, AB Variant [C18.452.648.189.435.825.300.300.750]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Gangliosidoses [C18.452.648.398.641.803.350]
- Gangliosidoses, GM2 [C18.452.648.398.641.803.350.300]
- Tay-Sachs Disease, AB Variant [C18.452.648.398.641.803.350.300.925]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Gangliosidoses [C18.452.648.595.554.825.300]
- Gangliosidoses, GM2 [C18.452.648.595.554.825.300.300]
- Tay-Sachs Disease, AB Variant [C18.452.648.595.554.825.300.300.920]
Below are MeSH descriptors whose meaning is more specific than "Tay-Sachs Disease, AB Variant".
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