Wilson's disease

GPTKB entity

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