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GLUCOSYLCERAMIDE BETA-GLUCOSIDASE DEFICIENCY DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Gaucher Disease
Descriptor
Spanish
:
Enfermedad de Gaucher
Descriptor
Portuguese
:
Doença de Gaucher
Synonyms
English
:
Cerebroside Lipidosis Syndrome
Glucocerebrosidase Deficiency Disease
Glucosylceramide Beta-Glucosidase Deficiency Disease
Neuronopathic Gaucher Disease
Gaucher Disease Type 1
Gaucher Disease Type 2
Tree Number:
C10.228.140.163.100.435.825.400
C16.320.565.189.435.825.400
C16.320.565.398.641.803.441
C16.320.565.595.554.825.400
C18.452.132.100.435.825.400
C18.452.584.687.803.441
C18.452.648.189.435.825.400
C18.452.648.398.641.803.441
C18.452.648.595.554.825.400
Definition
English
:
An autosomal recessive disorder caused by a deficiency of acid
beta-glucosidase
(
GLUCOSYLCERAMIDASE
) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the
MONONUCLEAR PHAGOCYTE SYSTEM
. The characteristic Gaucher cells, glycosphingolipid-filled
HISTIOCYTES
, displace normal cells in
BONE MARROW
and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
See Related
English
:
Glucosylceramidase
History Note
English
:
2000(1966)
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:
5916
Unique Identifier:
D005776
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS