hepatolenticular degeneration
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
brain
liver cornea |
| gptkbp:alsoKnownAs |
gptkb:Wilson's_disease
|
| gptkbp:causedBy |
mutation in ATP7B gene
|
| gptkbp:diagnosedBy |
liver biopsy
24-hour urinary copper serum ceruloplasmin |
| gptkbp:firstDescribed |
gptkb:Samuel_Alexander_Kinnier_Wilson
1912 |
| https://www.w3.org/2000/01/rdf-schema#label |
hepatolenticular degeneration
|
| gptkbp:ICD-10_code |
E83.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
gptkb:D006528
|
| gptkbp:OMIM |
277900
|
| gptkbp:prevalence |
1 in 30,000
|
| gptkbp:symptom |
gptkb:Kayser-Fleischer_rings
jaundice tremor psychiatric symptoms dysarthria |
| gptkbp:treatment |
liver transplantation
chelating agents zinc therapy |
| gptkbp:bfsParent |
gptkb:Wilson's_disease
|
| gptkbp:bfsLayer |
7
|