Search on: NIEMANN-PICK DISEASE, TYPE C1 
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Descriptor English:   Niemann-Pick Disease, Type C 
Descriptor Spanish:   Enfermedad de Niemann-Pick Tipo C 
Descriptor Portuguese:   Doença de Niemann-Pick Tipo C 
Synonyms English:   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)  
Tree Number:   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
Definition English:   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:   2007; use NIEMANN-PICK DISEASES 2000-2006 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   52107 
Unique Identifier:   D052556 

Occurrence in VHL: 		 

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