Related MeSH Hierarchy (9)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Sandhoff 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 » Sandhoff 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 » Sandhoff 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 » Sandhoff 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 » Sandhoff Disease
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 » Sandhoff 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 » Sandhoff Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses » Gangliosidoses » Gangliosidoses, GM2 » Sandhoff 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 » Sandhoff Disease
Description
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. 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 (4)
Organization Involved with Phase 2 Indications (4)
Organization Involved with Phase 1 Indications (7)
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UMLS Data
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