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Disease Tay-Sachs Disease, AB Variant

Name Tay-Sachs Disease, AB Variant
Synonyms 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, AB Variant | TAY-SACHS DISEASE, AB VARIANT | Tay-Sachs Disease, Activator-Deficient | Tay-Sachs Diseases, Activator-Deficient | Variant GM2-Gangliosidoses, AB | Variant GM2-Gangliosidosis, AB
Definition 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.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D049290
OMIM® ID 272750
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Gangliosidoses Has associated chemicals Has associated genes Gangliosidoses, GM2 Has associated chemicals Has associated genes Tay-Sachs Disease, AB Variant Has associated chemicals Has associated genes

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