Related MeSH Hierarchy (9)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Diseases [C] » Nervous System Diseases [C10] » 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
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Tay-Sachs Disease
Description
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. MeSH
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Phase 4 Indicated Drugs (1)
Phase 3 Indicated Drugs (1)
Phase 1 Indicated Drugs (2)
Organization Involved with Phase 4 Indications (6)
Organization Involved with Phase 3 Indications (7)
Organization Involved with Phase 2 Indications (4)
Organization Involved with Phase 1 Indications (7)
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UMLS Data
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