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FABRY DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Fabry Disease
Descriptor
Spanish
:
Enfermedad de Fabry
Descriptor
Portuguese
:
Doença de Fabry
Synonyms
English
:
Anderson Fabry Disease
Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum
Angiokeratoma Diffuse
Angiokeratoma, Diffuse
Ceramide Trihexosidase Deficiency
Deficiency, Ceramide Trihexosidase
Deficiency, GLA
Deficiency, alpha-Galactosidase A
Diffuse Angiokeratoma
Fabry's Disease
GLA Deficiency
Hereditary Dystopic Lipidosis
Lipidosis, Hereditary Dystopic
alpha Galactosidase A Deficiency
alpha Galactosidase A Deficiency Disease
alpha-Galactosidase A Deficiency
alpha-Galactosidase A Deficiency Disease
Tree Number:
C10.228.140.163.100.435.825.200
C10.228.140.300.275.374
C14.907.253.329.374
C16.320.322.124
C16.320.565.189.435.825.200
C16.320.565.398.641.803.300
C16.320.565.595.554.825.200
C18.452.132.100.435.825.200
C18.452.584.687.803.300
C18.452.648.189.435.825.200
C18.452.648.398.641.803.300
C18.452.648.595.554.825.200
Definition
English
:
An X-linked inherited metabolic
disease
caused by a deficiency of lysosomal
ALPHA-GALACTOSIDASE
A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other
GLYCOSPHINGOLIPIDS
in
blood vessels
throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Indexing Annotation
English
:
do not confuse entry term ANDERSON-FABRY
DISEASE
with ANDERSEN'S
DISEASE
See Related
English
:
Ceramides
alpha-Galactosidase
History Note
English
:
1999(1973)
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:
30299
Unique Identifier:
D000795
Occurrence in VHL
:
Similar:
DeCS