Sphingolipidoses D013106

Related MeSH Hierarchy (9)

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

Subtype Terms (8)

Fabry Disease
27 drugs (16 approved, 11 experimental)

Farber Lipogranulomatosis
 

Gangliosidoses
1 experimental drug

Gaucher Disease
35 drugs (18 approved, 17 experimental)

Leukodystrophy, Globoid Cell
19 drugs (12 approved, 7 experimental)

Niemann-Pick Diseases
10 drugs (6 approved, 4 experimental)



Organization Involved with Phase 2 Indications (1)

Hierarchy Tree View

UMLS Data


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