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WILSON DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Hepatolenticular Degeneration
Descriptor
Spanish
:
Degeneración Hepatolenticular
Descriptor
Portuguese
:
Degeneração Hepatolenticular
Synonyms
English
:
Wilson Disease
Pseudosclerosis
Cerebral Pseudosclerosis
Neurohepatic Degeneration
Tree Number:
C06.552.413
C10.228.140.079.493
C10.228.140.163.100.360
C10.228.662.400
C10.574.500.487
C16.320.400.361
C16.320.565.189.360
C16.320.565.618.403
C18.452.132.100.360
C18.452.648.189.360
C18.452.648.618.403
Definition
English
:
A rare autosomal recessive
disease
characterized by the deposition of
copper
in the
BRAIN
;
LIVER
;
CORNEA
; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson
disease
protein. The overload of
copper
inevitably leads to progressive
liver
and neurological dysfunction such as
LIVER CIRRHOSIS
;
TREMOR
;
ATAXIA
and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Indexing Annotation
English
:
lenticular refers to the lenticular nucleus in the
brain
History Note
English
:
1964(1963)
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:
6684
Unique Identifier:
D006527
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS