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Wilson disease

ORPHA:905 · Disease · Disorder

HPO 表現型（共 56 項）

Very frequent (99-80%)(32)

  • Abnormality of the handHP:0001155
  • Abnormality of the menstrual cycleHP:0000140
  • Acute hepatic failureHP:0006554
  • Acute hepatitisHP:0200119
  • Aggressive behaviorHP:0000718
  • Amplification of sexual behaviorHP:5200321
  • AnemiaHP:0001903
  • ArthralgiaHP:0002829
  • ArthritisHP:0001369
  • Back painHP:0003418
  • Bone painHP:0002653
  • Bruising susceptibilityHP:0000978
  • CirrhosisHP:0001394
  • ClumsinessHP:0002312
  • DepressionHP:0000716
  • DysarthriaHP:0001260
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thriveHP:0001508
  • Hepatic steatosisHP:0001397
  • HepatitisHP:0012115
  • HepatomegalyHP:0002240
  • Increased body weightHP:0004324
  • Intellectual disabilityHP:0001249
  • JaundiceHP:0000952
  • Joint swellingHP:0001386
  • Kayser-Fleischer ringHP:0200032
  • Pathologic fractureHP:0002756
  • Proximal lower limb muscle weaknessHP:0008994
  • PruritusHP:0000989
  • SplenomegalyHP:0001744
  • ThrombocytopeniaHP:0001873
  • Weight lossHP:0001824

Frequent (79-30%)(8)

  • ChoreaHP:0002072
  • Decreased circulating ceruloplasmin concentrationHP:0010837
  • DystoniaHP:0001332
  • Gait disturbanceHP:0001288
  • Hemolytic anemiaHP:0001878
  • OsteoporosisHP:0000939
  • Personality changesHP:0000751
  • TremorHP:0001337

Occasional (29-5%)(15)

  • Abdominal painHP:0002027
  • AminoaciduriaHP:0003355
  • AnxietyHP:0000739
  • AscitesHP:0001541
  • Excessive salivationHP:0003781
  • Focal T2 hyperintense brainstem lesionHP:0012748
  • HallucinationsHP:0000738
  • HypoparathyroidismHP:0000829
  • InfertilityHP:0000789
  • InsomniaHP:0100785
  • Kidney stoneHP:0000787
  • PancreatitisHP:0001733
  • PsychosisHP:0000709
  • SeizureHP:0001250
  • VomitingHP:0002013

Very rare (<4-1%)(1)

  • Sunflower cataractHP:6000642