|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:metabolic_disorder
gptkb:autosomal_recessive_disease
|
|
gptkbp:affects
|
brain
liver
kidneys
cornea
|
|
gptkbp:alsoKnownAs
|
gptkb:hepatolenticular_degeneration
|
|
gptkbp:biochemicalFeature
|
low ceruloplasmin
high hepatic copper
increased urinary copper excretion
|
|
gptkbp:complication
|
gptkb:bone
gptkb:cardiomyopathy
cirrhosis
liver failure
pancreatitis
neurological deterioration
renal tubular acidosis
psychiatric disorders
arthropathy
|
|
gptkbp:diagnosedBy
|
liver biopsy
genetic testing
24-hour urinary copper
serum ceruloplasmin
|
|
gptkbp:firstDescribed
|
gptkb:Samuel_Alexander_Kinnier_Wilson
1912
|
|
gptkbp:hasOrphanetID
|
905
|
|
gptkbp:ICD-10_code
|
E83.0
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_13
|
|
gptkbp:MeSH_ID
|
D014914
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ATP7B_gene
|
|
gptkbp:OMIM
|
277900
|
|
gptkbp:prevalence
|
1 in 30,000
|
|
gptkbp:symptom
|
gptkb:anemia
gptkb:Kayser-Fleischer_rings
edema
abdominal pain
jaundice
tremor
hepatomegaly
psychiatric symptoms
dysarthria
ascites
|
|
gptkbp:treatment
|
gptkb:penicillamine
liver transplantation
trientine
zinc acetate
|
|
gptkbp:bfsParent
|
gptkb:SLC31A1
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Wilson disease
|