{"orpha":562639,"name":"Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Overlap syndromes of autoimmune liver diseases","PBC/PSC and AIH overlap syndrome"],"definition":"A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-562639/","orphanet_url":"https://www.orpha.net/en/disease/detail/562639","names":{"fr":{"name":"Syndrome de chevauchement d'hépatite auto-immune avec cirrhose biliaire primitive/cholangite sclérosante primitive","synonyms":["Sydrome de chevauchement de HAI avec CBP/CSP","Syndrome de chevauchement des maladies hépatiques auto-immunes"],"definition":"Maladie hépatique rare caractérisée par le chevauchement d'une cirrhose biliaire primitive et/ou d'une cholangite sclérosante primitive avec une hépatite auto-immune, définie par la présence d'au moins deux des trois critères de diagnostic biochimique, sérologique et histologique de chaque maladie. Les deux maladies peuvent se déclarer de manière simultanée ou l'une après l'autre, auquel cas l'intervalle entre l'apparition des deux maladies varie et peut être de plusieurs années. L'âge auquel la maladie se déclare, la prédisposition en fonction du genre et le phénotype clinique varient en fonction de la maladie. La présentation clinique va d'une forme asymptomatique ou symptomatique à type de manifestations non spécifiques (fatigue, arthralgie et prurit) à une cirrhose confirmée avec décompensation ou à une hépatite aiguë/fulminante et à une insuffisance hépatique. Certaines maladies auto-immunes extra-hépatiques sont fréquemment associées."},"de":{"name":"Primäre biliäre Cholangitis/primäre sklerosierende Cholangitis und autoimmune Hepatitis-Übergangsform","synonyms":["PBC/PSC und AIH-Overlap-Syndrom","Überlappungssyndrome autoimmuner Lebererkrankungen"],"definition":"Eine seltene Lebererkrankung, die durch die Überlappung einer primär biliären Cholangitis und/oder einer primär sklerosierenden Cholangitis mit einer Autoimmunhepatitis gekennzeichnet ist, definiert durch das Vorhandensein von mindestens zwei der drei anerkannten biochemischen, serologischen und histologischen Kriterien jeder Erkrankung. Die sich überschneidenden Krankheiten können gleichzeitig oder nacheinander mit einem variablen Zeitabstand von bis zu mehreren Jahren auftreten. Das Erkrankungsalter, die geschlechtsspezifische Prädisposition und der klinische Phänotyp variieren zwischen den einzelnen Erkrankungen, und die klinische Präsentation reicht von asymptomatischer Erkrankung oder unspezifischen Symptomen wie Müdigkeit, Arthralgie und Pruritus bis hin zu etablierter Leberzirrhose und Dekompensation oder akuter fulminanter Hepatitis und Leberversagen. Eine Assoziation mit extrahepatischen Autoimmunerkrankungen ist häufig."},"es":{"name":"Síndrome de solapamiento de colangitis biliar primaria/colangitis esclerosante primaria y hepatitis autoinmune","synonyms":["Síndromes de solapamiento de enfermedades hepáticas autoinmunes"],"definition":"Es una enfermedad hepática poco frecuente caracterizada por el solapamiento de colangitis biliar primaria y/o colangitis esclerosante primaria con hepatitis autoinmune, definida por la presencia de al menos dos de los tres criterios bioquímicos, serológicos e histológicos reconocidos de cada enfermedad. La aparición de las enfermedades solapantes puede ser simultánea o secuencial, con un intervalo variable de hasta varios años. La edad de inicio, la predisposición de género y el fenotipo clínico varían para cada una de las enfermedades, y la presentación clínica oscila desde enfermedad asintomática o síntomas inespecíficos como cansancio, artralgia y prurito, hasta cirrosis establecida y descompensación, así como hepatitis aguda y fulminante o fallo hepático. Es frecuente la asociación con enfermedades extrahepáticas autoinmunes."},"it":{"name":"Sindrome da sovrapposizione della colangite biliare primitiva/colangite sclerosante primitiva ed epatite autoimmune","synonyms":["Sindrome da sovrapposizione di CBP/CSP ed EA","Sindromi da sovrapposizione di più epatopatie autoimmuni"]},"nl":{"name":"Primaire biliaire cholangitis/primaire scleroserende cholangitis en auto-immune hepatitis-overlapsyndroom","synonyms":["Overlapsyndromen van auto-immune leverziekten","PBC/PSC en AIH-overlapsyndroom"],"definition":"Een zeldzame aandoening van lever, gekenmerkt door overlap van primaire biliaire cholangitis en/of primaire scleroserende cholangitis met auto-immune hepatitis, gedefinieerd door de aanwezigheid van minstens twee van de drie erkende biochemische, serologische, en histologische criteria van elke ziekte. Aanvang van de overlappende ziekten kan simultaan of sequentieel, met variabel interval gaande tot meerdere jaren, gebeuren. Aanvangsleeftijd, geslachtspredispositie, en klinisch fenotype variëren tussen elk van de ziekten, en de klinische presentatie gaat van asymptomatische ziekte of aspecifieke symptomen zoals vermoeidheid, artralgie en pruritus tot vastgestelde cirrose en decompensatie, of ook acute, fulminante hepatitis en leverfalen. Associatie met extrahepatische auto-immuunziekten is gangbaar."},"pt":{"name":"Síndrome de sobreposição fenótipica de colangite biliar primária/colangite esclerosante primária e hepatite autoimune","definition":"Doença hepática rara caracterizada pela sobreposição de colangite biliar primária e/ou colangite esclerosante primária com hepatite autoimune, definida pela presença de pelo menos 2 em 3 critérios bioquímicos, sorológicos e histológicos reconhecidos de cada doença. A sobreposição fenotípica das doenças pode ser simultâneo ou sequencial, com intervalo variável de anos. A idade de início, a predisposição de género e o fenótipo clínico variam entre cada uma das doenças, e a apresentação clínica varia desde casos assintomáticos ou sintomas inespecíficos, como fadiga, artralgia e prurido, a cirrose e descompensação, ou também hepatite aguda e fulminante e insuficiência hepática. A associação com doenças autoimunes extra-hepáticas é comum."},"pl":{"name":"Zespół nakładania się objawów pierwotnego żółciowego zapalenia dróg żółciowych/pierwotnego stwardniającego zapalenia dróg żółciowych i autoimmunologicznego zapalenia wątroby","synonyms":["Overlap syndromes of autoimmune liver diseases","PBC/PSC and AIH overlap syndrome"],"definition":"Rzadka choroba wątroby charakteryzująca się nakładaniem się pierwotnego zapalenia dróg żółciowych i/lub pierwotnego stwardniającego zapalenia dróg żółciowych z autoimmunologicznym zapaleniem wątroby, definiowana obecnością co najmniej dwóch z trzech uznanych biochemicznych, serologicznych i histologicznych kryteriów każdej z tych chorób. Początek nakładających się chorób może być równoczesny lub sekwencyjny, ze zmiennym odstępem czasu, do kilku lat. Wiek zachorowania, predyspozycje związane z płcią oraz fenotyp kliniczny są odmienne w przypadku każdej z w/w chorób, a obraz kliniczny obejmuje spektrum od choroby bezobjawowej lub niespecyficznych objawów, takich jak zmęczenie, bóle stawów i świąd, do utrwalonej marskości wątroby i dekompensacji, a także ostrego, piorunującego zapalenia wątroby i niewydolności wątroby. Częsty jest związek z pozawątrobowymi chorobami autoimmunologicznymi."},"cs":{"name":"Překryvný syndrom primární biliární cholangitidy/primární sklerotizující cholangitidy a autoimunitní hepatitidy","synonyms":["Overlap syndromes of autoimmune liver diseases","PBC/PSC and AIH overlap syndrome"]},"uk":{"name":"Первинний біліарний холангіт/первинний склерозуючий холангіт та Overlap-синдром групи аутоімунного гепатиту","synonyms":["Синдроми перекриття аутоімунних захворювань печінки","Синдром накладання PBC/PSC та AIH"],"definition":"A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common."},"zh":{"name":"原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎综合征","synonyms":["原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎重叠综合征"]},"tr":{"name":"Primer biliyer kolanjit/primer sklerozan kolanjit ve otoimmün hepatit örtüşen sendrom","synonyms":["Otoimmün karaciğer hastalıklarının örtüşen sendromları","PBC/PSC ve AIH örtüşen sendromu"]}},"xrefs":[{"source":"ICD-10","code":"K75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB96.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1249168134"},{"source":"MONDO","code":"0034189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680117","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-10","source":"22817525[PMID]_28690845[PMID]_22817525[PMID]","terms":[{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032220","label":"Interface hepatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100889","label":"Abnormality of the ductus choledochus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011040","label":"Abnormality of the intrahepatic bile duct","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034110","label":"Anti-Gerbich phenotype 1 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034115","label":"Anti-Kelch like protein 12 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034111","label":"Anti-MIT3 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034093","label":"Anti-Ro52/TRIM21 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034108","label":"Anti-Y-box protein-1 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033562","label":"Anti-glycoprotein-210 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034114","label":"Anti-hexokinase-1 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034107","label":"Anti-p53 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034155","label":"Anti-sp100 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030909","label":"Anti-liver cytosolic antigen type 1 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030167","label":"Antimitochondrial antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032252","label":"Granuloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030988","label":"Granulomatous cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025344","label":"Interlobular bile duct destruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003262","label":"Smooth muscle antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100279","label":"Ulcerative colitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030908","label":"Liver kidney microsome type 1 antibody positivity","frequency":"Very rare (<4-1%)","criteria":null}]}}