|
gptkbp:instanceOf
|
genetic disorder
rare disease
|
|
gptkbp:affectsAgeGroup
|
children
young adults
|
|
gptkbp:affectsOrgan
|
brain
liver
kidneys
cornea
|
|
gptkbp:alsoKnownAs
|
gptkb:hepatolenticular_degeneration
|
|
gptkbp:canBeFatal
|
yes
|
|
gptkbp:canBeManagedBy
|
lifelong treatment
|
|
gptkbp:category
|
gptkb:copper_metabolism_disorder
metabolic disorder
|
|
gptkbp:complication
|
cirrhosis
liver failure
neurological deterioration
psychiatric disorders
|
|
gptkbp:diagnosedBy
|
gptkb:24-hour_urinary_copper_test
gptkb:serum_ceruloplasmin_test
liver biopsy
genetic testing
|
|
gptkbp:eponymOf
|
gptkb:Samuel_Alexander_Kinnier_Wilson
|
|
gptkbp:firstDescribed
|
gptkb:Samuel_Alexander_Kinnier_Wilson
1912
|
|
gptkbp:hasBiomarker
|
gptkb:Kayser-Fleischer_rings
high urinary copper
low ceruloplasmin
|
|
gptkbp:hasNoCure
|
yes
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Wilson's disease
|
|
gptkbp:ICD-10_code
|
E83.0
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D014914
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ATP7B_gene
|
|
gptkbp:OMIM
|
277900
|
|
gptkbp:prevalence
|
1 in 30,000
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:Kayser-Fleischer_rings
abdominal pain
jaundice
tremor
hepatomegaly
psychiatric symptoms
dysarthria
|
|
gptkbp:treatment
|
liver transplantation
chelating agents
zinc therapy
|
|
gptkbp:bfsParent
|
gptkb:juvenile_Parkinson's_disease
|
|
gptkbp:bfsLayer
|
6
|