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DeCS
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Descriptor English:
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Niemann-Pick Disease, Type C
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Descriptor Spanish:
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enfermedad de Niemann-Pick tipo c
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Descriptor Portuguese:
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Doença de Niemann-Pick Tipo C
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Synonyms English:
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Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
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 C
Niemann Pick Disease, Type C1
Niemann Pick Disease, Type D
Niemann Pick disease, Subacute Juvenile Form
Niemann Pick's Disease Type C
Niemann Pick's Disease Type D
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'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)
Nova Scotia Niemann-Pick Disease (Type D)
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Tree Number:
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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
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Definition English:
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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. |
History Note English:
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2007; use NIEMANN-PICK DISEASES 2000-2006
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Allowable Qualifiers English:
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Record Number:
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52107
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Unique Identifier:
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D052556
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Occurrence in VHL:
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Similar:
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DeCS
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