Pesquisa sobre:
NIEMANN-PICK DISEASE, TYPE C
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DeCS
Descritor
Inglês
:
Niemann-Pick Disease, Type C
Descritor
Espanhol
:
Enfermedad de Niemann-Pick Tipo C
Descritor
Português
:
Doença de Niemann-Pick Tipo C
Sinônimos
Inglês
:
Niemann-Pick Disease, Type D
Categoria:
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
Definição
Inglês
:
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 gene (NPC1) encoding a protein that mediate 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.
Nota Histórica
Inglês
:
2007; use NIEMANN-PICK DISEASES 2000-2006
Qualificadores Permitidos
Inglês
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Número do Registro:
52107
Identificador Único:
D052556
Ocorrência na BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS