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NIEMANN-PICK DISEASE, TYPE C
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DeCS
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
:
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 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.
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
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
Record Number:
52107
Unique Identifier:
D052556
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS