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CHOLESTEROL ESTER STORAGE DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Cholesterol Ester Storage Disease
Descriptor
Spanish
:
enfermedad por acumulación de ésteres de colesterol
Descriptor
Portuguese
:
Doença do Armazenamento de Colesterol Éster
Synonyms
English
:
Cholesteryl Ester Storage Disease
Tree Number:
C16.320.565.398.641.201
C16.320.565.595.201
C18.452.584.687.201
C18.452.648.398.641.201
C18.452.648.595.201
Definition
English
:
An autosomal recessive disorder caused by
mutations
in the gene for acid
lipase
(
STEROL ESTERASE
). It is characterized by the accumulation of neutral
lipids
, particularly
CHOLESTEROL ESTERS
in
leukocytes
,
fibroblasts
, and
hepatocytes.
See Related
English
:
Sterol Esterase
History Note
English
:
89
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:
23586
Unique Identifier:
D015217
Occurrence in VHL
:
Similar:
DeCS