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Niemann-Pick Disease, Type C

Name: Niemann-Pick Disease, Type C
Description: 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 (MeSH).
Synonym(s): Type D, Niemann-Pick Disease with Cholesterol Esterification Block, Nova Scotian, Niemann-Pick Disease without Sphingomyelinase Deficiency, Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia, Niemann-Pick Disease, Chronic Neuronopathic Form
Super-category: Niemann-Pick Disease
*Id: birnlex_12541
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*Note: Neurolex imports many terms and their ids from existing community ontologies, e.g., the Gene Ontology. Neurolex, however, is a dynamic site and any content beyond the identifier should not be presumed to reflect the content or views of the source ontology. Users should consult with the authoritative source for each ontology for current information.

Facts about Niemann-Pick Disease, Type CRDF feed
Created5 October 2007  +
CurationStatusuncurated  +
DefinitionAn autosomal recessive lipid storage disor 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 (MeSH). people with a Nova Scotia ancestry (MeSH).
Idbirnlex_12541  +
LabelNiemann-Pick Disease, Type C  +
ModifiedDate30 May 2009  +
SuperCategoryNiemann-Pick Disease  +
SynonymType D  +, Niemann-Pick Disease with Cholesterol Esterification Block  +, Nova Scotian  +, Niemann-Pick Disease without Sphingomyelinase Deficiency  +, Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia  +, Niemann-Pick Disease  +, and Chronic Neuronopathic Form  +