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.
推出的年份: 2007
树号: 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 单一 ID: D052556
进入的组:
Niemann Pick Disease, Type C
Niemann-Pick Type C Disease
Niemann Pick Type C Disease
Niemann-Pick Disease with Cholesterol Esterification Block
Niemann Pick Disease with Cholesterol Esterification Block
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's Disease Type C
Niemann Pick's Disease Type C
Niemann-Pick Disease, Type C1
Niemann Pick Disease, Type C1
Niemann-Pick disease, Subacute Juvenile Form
Niemann Pick disease, Subacute Juvenile Form
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 Disease Type D
Niemann Pick Disease Type D
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 Type D Disease
Niemann Pick Type D Disease
早前的内容:
Niemann-Pick Diseases (1968-2006)
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