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Concept information

Preferred term

Niemann-Pick Disease, Type C  

Type

  • mesh:Descriptor

Definition

  • 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 the NPC1 gene, which encodes a protein that mediates 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.

Broader concept

Entry terms

  • Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
  • Niemann-Pick Disease, Chronic Neuronopathic Form
  • Niemann-Pick Disease Type C
  • Niemann-Pick Disease with Cholesterol Esterification Block
  • Niemann-Pick Disease without Sphingomyelinase Deficiency
  • Niemann-Pick's Disease Type C
  • Niemann-Pick Type C Disease

In other languages

  • French

  • Forme neuronopathique chronique de la maladie de Niemann-Pick
  • Lipidose lysosomale avec ophtalmoplégie supranucléaire de la verticalité
  • Maladie de Niemann-Pick type C

URI

http://data.loterre.fr/ark:/67375/JVR-FDRH3FWM-0

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RDF/XML TURTLE JSON-LD Created 7/5/06, last modified 7/1/21