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

ORPHA:562639DiseaseAll ages

Фенотипы (36)

Очень частый (80–99%) — 2
HP:0030057Autoimmune antibody positivity
HP:0032220Interface hepatitis
Частый (30–79%) — 16
HP:0000989Pruritus
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003237Increased circulating IgG level
HP:0003493Antinuclear antibody positivity
HP:0011040Abnormality of the intrahepatic bile duct
HP:0012378Fatigue
HP:0033562Anti-glycoprotein-210 antibody positivity
HP:0034093Anti-Ro52/TRIM21 antibody positivity
HP:0034107Anti-p53 antibody positivity
HP:0034108Anti-Y-box protein-1 antibody positivity
HP:0034110Anti-Gerbich phenotype 1 antibody positivity
HP:0034111Anti-MIT3 antibody positivity
HP:0034114Anti-hexokinase-1 antibody positivity
HP:0034115Anti-Kelch like protein 12 antibody positivity
HP:0034155Anti-sp100 antibody positivity
HP:0100889Abnormality of the ductus choledochus
Периодический (5–29%) — 17
HP:0001394Cirrhosis
HP:0001396Cholestasis
HP:0002037Inflammation of the large intestine
HP:0002611Cholestatic liver disease
HP:0002829Arthralgia
HP:0002904Hyperbilirubinemia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003262Smooth muscle antibody positivity
HP:0003496Increased circulating IgM level
HP:0025344Interlobular bile duct destruction
HP:0030167Antimitochondrial antibody positivity
HP:0030909Anti-liver cytosolic antigen type 1 antibody positivity
HP:0030948Elevated gamma-glutamyltransferase level
HP:0030988Granulomatous cholangitis
HP:0030991Sclerosing cholangitis
HP:0032252Granuloma
HP:0100279Ulcerative colitis
Очень редкий (1–4%) — 1
HP:0030908Liver kidney microsome type 1 antibody positivity

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOpen TargetsClinicalTrials