Niemann-Pick Diseases D009542

Related MeSH Hierarchy (10)

Description

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.   MeSH

Subtype Terms (3)

Niemann-Pick Disease, Type A
1 experimental drug

Niemann-Pick Disease, Type B
4 drugs (3 approved, 1 experimental)

Niemann-Pick Disease, Type C
12 drugs (6 approved, 6 experimental)



Organization Involved with Phase 4 Indications (1)

Organization Involved with Phase 3 Indications (6)

Hierarchy Tree View

UMLS Data


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