Niemann-Pick Disease, Type C
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.
Year introduced: 2007
PubMed search builder options
Subheadings:
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, C18.452.584.563.641.803.730.875, C18.452.648.189.435.825.700.875, C18.452.648.398.641.803.730.875, C18.452.648.595.554.825.700.875
MeSH Unique ID: D052556
Entry Terms:
- Niemann Pick Disease, Type C
- Niemann-Pick Type C Disease
- Niemann Pick Type C Disease
- Niemann-Pick's Disease Type C
- Niemann Pick's Disease Type C
- Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
- Niemann-Pick Disease without Sphingomyelinase Deficiency
- Niemann Pick Disease without Sphingomyelinase Deficiency
- Niemann-Pick Disease, Chronic Neuronopathic Form
- Niemann Pick Disease, Chronic Neuronopathic Form
- Niemann-Pick Disease Type C
- Niemann Pick Disease Type C
- Niemann-Pick Disease with Cholesterol Esterification Block
- Niemann Pick Disease with Cholesterol Esterification Block
- Niemann-Pick Disease, Type D
- Niemann Pick Disease, Type D
- Niemann-Pick Disease, Nova Scotian
- Niemann Pick Disease, Nova Scotian
- Niemann-Pick's Disease Type D
- Niemann Pick's Disease Type D
- Niemann-Pick Type D Disease
- Niemann Pick Type D Disease
- Nova Scotia Niemann-Pick Disease (Type D)
- Nova Scotia Niemann Pick Disease (Type D)
- Nova Scotia (Type D) Form of Niemann-Pick Disease
- Niemann-Pick Disease Type D
- Niemann Pick Disease Type D
- Niemann-Pick Disease, Type C1
- Niemann Pick Disease, Type C1
- Niemann-Pick disease, Subacute Juvenile Form
- Niemann Pick disease, Subacute Juvenile Form
Previous Indexing: