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Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

ORPHA:562639 · Disease · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(2)

  • Autoimmune antibody positivityHP:0030057
  • Interface hepatitisHP:0032220

Frequent (79-30%)(16)

  • Abnormal ductus choledochus morphologyHP:0100889
  • Abnormal intrahepatic bile duct morphologyHP:0011040
  • Anti-Gerbich phenotype 1 antibody positivityHP:0034110
  • Anti-glycoprotein-210 antibody positivityHP:0033562
  • Anti-hexokinase-1 antibody positivityHP:0034114
  • Anti-Kelch like protein 12 antibody positivityHP:0034115
  • Anti-MIT3 antibody positivityHP:0034111
  • Anti-p53 antibody positivityHP:0034107
  • Anti-Ro52/TRIM21 antibody positivityHP:0034093
  • Anti-sp100 antibody positivityHP:0034155
  • Anti-Y-box protein-1 antibody positivityHP:0034108
  • Antinuclear antibody positivityHP:0003493
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • FatigueHP:0012378
  • Increased circulating IgG concentrationHP:0003237
  • PruritusHP:0000989

Occasional (29-5%)(17)

  • Anti-liver cytosolic antigen type 1 antibody positivityHP:0030909
  • Anti-smooth muscle antibody positivityHP:0003262
  • Antimitochondrial antibody positivityHP:0030167
  • ArthralgiaHP:0002829
  • CholestasisHP:0001396
  • Cholestatic liver diseaseHP:0002611
  • CirrhosisHP:0001394
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated gamma-glutamyltransferase levelHP:0030948
  • GranulomaHP:0032252
  • Granulomatous cholangitisHP:0030988
  • HyperbilirubinemiaHP:0002904
  • Increased circulating IgM concentrationHP:0003496
  • Inflammation of the large intestineHP:0002037
  • Interlobular bile duct destructionHP:0025344
  • Sclerosing cholangitisHP:0030991
  • Ulcerative colitisHP:0100279

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

  • Liver kidney microsome type 1 antibody positivityHP:0030908