Related MeSH Hierarchy (9)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses
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
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
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses
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
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors » Lipidoses » Sphingolipidoses
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Lysosomal Storage Diseases, Nervous System » Sphingolipidoses
Description
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. MeSH
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Subtype Terms (8)
Fabry Disease
20 drugs (10 approved, 10 experimental)
Gangliosidoses
1 experimental drug
Gaucher Disease
27 drugs (15 approved, 12 experimental)
Leukodystrophy, Globoid Cell
19 drugs (12 approved, 7 experimental)
Niemann-Pick Diseases
8 drugs (5 approved, 3 experimental)
Organization Involved with Phase 2 Indications (1)
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UMLS Data
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