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Neuroscience Information Framework (NIF) Dysfunction Ontlogy
Last uploaded:
April 11, 2018
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| Preferred Name | Niemann-Pick Disease, Type C | |
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| Definitions |
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). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12541 |
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| createdDate |
2007-10-05
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| 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 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).
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| label |
Niemann-Pick Disease, Type C
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| MeshUid |
D052556
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| modifiedDate |
April 11, 2009
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| note |
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).
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| preferred label |
Niemann-Pick Disease, Type C
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| synonym |
Niemann Pick Disease, Type C Niemann-Pick's Disease, Type C Niemann-Pick Disease with Cholesterol Esterification Block Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease without Sphingomyelinase Deficiency Niemann-Pick Disease, Nova Scotian Niemann-Pick Disease, Type D Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia Niemann Pick's Disease, Type C
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