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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
:
Angiokeratoma Corporis Diffusum
Anderson-Fabry Disease
Tree Number:
C10.228.140.163.100.435.825.200
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
History Note
English
:
99(73)
Allowable Qualifiers
English
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
30299
Unique Identifier:
D000795
Occurrence in VHL
:
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