Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease metabolic disorder |
| 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
cirrhosis liver failure pancreatitis neurological deterioration renal tubular acidosis cardiomyopathy 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Wilson disease
|
| 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
|