Statements (51)
Predicate | Object |
---|---|
gptkbp:instance_of |
gptkb:Genetics
|
gptkbp:affects |
gptkb:Brain
liver |
gptkbp:associated_with |
gptkb:Cardiology
gptkb:depression anxiety cognitive decline renal tubular acidosis hemolytic anemia osteoporosis tremors dystonia Kayser-Fleischer rings |
gptkbp:caused_by |
copper accumulation
|
gptkbp:community_impact |
can be fatal if untreated
affects multiple populations early diagnosis improves outcomes requires awareness and education can lead to significant morbidity |
gptkbp:complication |
liver failure
psychiatric disorders neurological damage |
gptkbp:diagnosis |
blood tests
urine tests liver biopsy |
gptkbp:first_described_by |
Samuel Alexander Kinnier Wilson
|
https://www.w3.org/2000/01/rdf-schema#label |
Wilson's disease
|
gptkbp:inherits_from |
autosomal recessive
|
gptkbp:known_as |
hepatolenticular degeneration
|
gptkbp:management |
regular monitoring
dietary modifications avoidance of copper-rich foods |
gptkbp:premiered_on |
childhood to early adulthood
|
gptkbp:prevalence |
1 in 30,000
|
gptkbp:promoter |
ATP7 B
|
gptkbp:research |
gptkb:gene_therapy
ongoing studies quality of life assessments long-term outcomes new chelation agents |
gptkbp:risk_factor |
family history
ethnicity |
gptkbp:screenings |
gptkb:family
|
gptkbp:symptoms |
liver disease
neurological symptoms psychiatric symptoms |
gptkbp:treatment |
liver transplant
chelation therapy zinc therapy |
gptkbp:bfsParent |
gptkb:hepatocellular_carcinoma
|
gptkbp:bfsLayer |
5
|