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Niemann-Pick Disease, Type C MeSH Descriptor Data 2021


MeSH Heading
Niemann-Pick Disease, Type C
Tree Number(s)
C10.228.140.163.100.435.825.700.875
C15.604.250.410.625.875
C16.320.565.189.435.825.700.875
C16.320.565.398.641.803.730.875
C16.320.565.595.554.825.700.875
C18.452.132.100.435.825.700.875
C18.452.584.687.803.730.875
C18.452.648.189.435.825.700.875
C18.452.648.398.641.803.730.875
C18.452.648.595.554.825.700.875
Unique ID
D052556
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D052556
Scope 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 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.
Entry Version
NEIMANN PICK DIS TYPE C
Entry Term(s)
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
Niemann-Pick Disease Type C
Niemann-Pick Disease Type D
Niemann-Pick Disease with Cholesterol Esterification Block
Niemann-Pick Disease without Sphingomyelinase Deficiency
Niemann-Pick Disease, Chronic Neuronopathic Form
Niemann-Pick Disease, Nova Scotian
Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type D
Niemann-Pick Type C Disease
Niemann-Pick Type D Disease
Niemann-Pick disease, Subacute Juvenile Form
Niemann-Pick's Disease Type C
Niemann-Pick's Disease Type D
Nova Scotia (Type D) Form of Niemann-Pick Disease
Nova Scotia Niemann-Pick Disease (Type D)
Previous Indexing
Niemann-Pick Diseases (1968-2006)
Public MeSH Note
2007; see NIEMANN-PICK DISEASES 2000-2006
History Note
2007; use NIEMANN-PICK DISEASES 2000-2006
Date Established
2007/01/01
Date of Entry
2006/07/05
Revision Date
2020/01/16
Niemann-Pick Disease, Type C Preferred
Niemann-Pick Disease, Type C1 Narrower
Niemann-Pick Disease, Type D Narrower
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