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HEPATOLENTICULAR DEGENERATION
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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
C10.228.140.079.501
C10.228.140.163.100.360
C10.228.662.425
C10.574.500.492
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
:
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:
6684
Unique Identifier:
D006527
Occurrence in VHL
:
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