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XANTHOMATOSIS, FAMILIAL
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DeCS
Descriptor
English
:
Wolman Disease
Descriptor
Spanish
:
Enfermedad de Wolman
Descriptor
Portuguese
:
Doença de Wolman
Synonyms
English
:
Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
Xanthomatosis, Familial
Xanthomatosis, Wolman's
Tree Number:
C16.320.565.398.641.201.500
C16.320.565.595.201.500
C16.614.947
C18.452.584.687.201.500
C18.452.648.398.641.201.500
C18.452.648.595.201.500
Definition
English
:
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid
lipase
(
STEROL ESTERASE
). It is characterized by the accumulation of neutral
lipids
, particularly
CHOLESTEROL ESTERS
in
leukocytes
,
fibroblasts
, and
hepatocytes
. It is also known as Wolman's
xanthomatosis
and is an allelic variant of
CHOLESTEROL ESTER STORAGE DISEASE.
History Note
English
:
1989
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:
23863
Unique Identifier:
D015223
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS