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Niemann-Pick Disease, Type C
(Niemann-Pick Disease, Type D)
An autosomal recessive lipid storage disorder that is characterized by accumulation of cholesterol and sphingomyelins in cells of the viscera and the central nervous system. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a nova scotia ancestry.
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 Niemann-Pick disease type C: drugline.org |  Niemann-Pick Type C is a www.parseghian.org |  Niemann-Pick Type C disease www.niemann-pickdisease.com |  Niemann–Pick disease en.wikipedia.org |
 (C) Axial T2-weighted magnetic jnnp.bmj.com |  anti-Niemann-Pick Disease www.antibodies-online.com |  Niemann-Pick type C disease in www.gfmer.ch |  Type C (the most common www.webpathology.com |
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Wikipedia
Niemann-Pick disease, type C, Niemann-Pick disease, SMPD1-associated, NPC1, NPC1L1, Epididymal secretory protein E1, Lipid storage disorder, Audi Type C, Citroën Type C, Díaz Type C, Renault Voiturette
More information
- Reported cases - Summary of cases reported on this disease.
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