Niemann-Pick Disease, Type C

Current revision (unreviewed)

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
Link to OWL / RDF:	Download this content as OWL/RDF

Contributors

Created	5 October 2007 +
CurationStatus	uncurated +
Definition	An 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).
Id	birnlex_12541 +
Label	Niemann-Pick Disease, Type C +
ModifiedDate	30 May 2009 +
SuperCategory	Niemann-Pick Disease +
Synonym	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 +, and Chronic Neuronopathic Form +