Wilson disease
MeSH: D006527ORPHA: 905
Overview
multisystem disease due to abnormal accumulation of copper
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Wilson disease, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceAmplification of sexual behaviorAbnormality of the menstrual cycleDepressionAggressive behaviorJaundiceBruising susceptibilityPruritusAbnormality of the handIntellectual disabilityDysarthriaArthritisJoint swellingCirrhosisHepatic steatosisFailure to thriveSplenomegalyWeight lossThrombocytopeniaAnemiaHepatomegalyClumsinessBone painPathologic fractureArthralgiaElevated circulating hepatic transaminase concentrationBack painIncreased body weightAcute hepatic failureProximal lower limb muscle weaknessHepatitisKayser-Fleischer ringAcute hepatitisPersonality changesOsteoporosisDystoniaTremorHemolytic anemiaChoreaDecreased circulating ceruloplasmin concentrationPsychosisHallucinationsAnxietyNephrolithiasisInfertilityHypoparathyroidismSeizureAscitesPancreatitisVomitingAbdominal painAminoaciduriaExcessive salivationFocal T2 hyperintense brainstem lesionInsomniaSunflower cataract
Classification & Codes
MeSH Code
D006527Orphanet Code
ORPHA:905Wilson disease
| MeSH | D006527 |
| Orphanet | ORPHA:905 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO