{"orpha":2137,"name":"Autoimmune hepatitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AIH"],"definition":"A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2137/","orphanet_url":"https://www.orpha.net/en/disease/detail/2137","names":{"fr":{"name":"Hépatite auto-immune","synonyms":["HAI"],"definition":"Maladie hépatique rare caractérisée par une inflammation hépatique aiguë ou chronique à médiation immunitaire, dont les signes cliniques sont une hépatite cryptogénique, avec une hépatite d'interface à l'examen histologique, des taux élevés d'aminotransférases sériques et une hypergammaglobulinémie/immunoglobuline G élevée, en présence ou pas d'auto-anticorps circulants spécifiques. Les patients peuvent être asymptomatiques, souffrir d'une maladie chronique ou présenter une insuffisance hépatique aiguë. On observe souvent des maladies auto-immunes concomitantes."},"de":{"name":"Hepatitis, autoimmune","synonyms":["AIH"],"definition":"Eine seltene Lebererkrankung, die durch eine akute oder chronische immunvermittelte Leberentzündung gekennzeichnet ist und sich klinisch als kryptogene Hepatitis mit einer Interface-Hepatitis in der histologischen Untersuchung, erhöhten Serum-Aminotransferase-Spiegeln und Hypergammaglobulinämie/Immunglobulin G mit oder ohne spezifische zirkulierende Autoantikörper darstellt. Die Patienten können asymptomatisch, chronisch krank oder mit akutem Leberversagen sein. Häufig treten gleichzeitig Autoimmunerkrankungen auf."},"es":{"name":"Hepatitis autoinmune","synonyms":["HAI"],"definition":"Es una enfermedad hepática poco frecuente caracterizada por inflamación hepática inmunomediada, aguda o crónica, que se presenta clínicamente como hepatitis criptogénica, con hepatitis de interfase en el examen histológico, elevación de los niveles de aminotransferasas séricas e hipergammaglobulinemia/ inmunoglobulina G elevada, en presencia o ausencia de autoanticuerpos circulantes específicos. Los pacientes pueden estar asintomáticos, padecer la enfermedad de forma crónica o presentar insuficiencia hepática aguda. Con frecuencia se observa enfermedades autoinmunes concurrentes."},"it":{"name":"Epatite autoimmune","synonyms":["Epatite autoimmune"],"definition":"L'epatite autoimmune (AIH) è un'epatopatia rara, caratterizzata da infiammazione acuta o cronica immuno-mediata del fegato, che, dal punto di vista clinico, si manifesta sotto forma di epatite criptogenetica, con un'epatite di interfaccia all'esame istologico, livelli elevati di aminotransferasi nel siero e ipergammaglobulinemia/livelli elevati di immunoglobuline G, in presenza o in assenza di autoanticorpi circolanti specifici. I pazienti possono essere asintomatici, oppure presentare sintomi cronici o un'insufficienza epatica acuta. Spesso si osservano malattie autoimmuni concomitanti."},"nl":{"name":"Auto-immune hepatitis","synonyms":["AIH"],"definition":"Een zeldzame aandoening van lever, gekenmerkt door immuungemedieerde, acute of chronische inflammatie van lever, die zich klinisch presenteert als cryptogene hepatitis, met grensvlak-hepatitis bij histologisch onderzoek, verhoogde gehaltes van aminotransferasen in serum, en hypergammaglobulinemie/verhoogd immunoglobuline G, in aan- of afwezigheid van specifieke circulerende auto-antilichamen. Patiënten kunnen asymptomatisch zijn, chronisch ziek zijn, of acuut leverfalen vertonen. Gelijktijdige auto-immuunziekten worden vaak waargenomen."},"pt":{"name":"Hepatite auto-imune","definition":"A hepatite autoimune é uma doença hepática inflamatória crónica de causa desconhecida, que está quase sempre associada à presença de anticorpos."},"pl":{"name":"Autoimmunologiczne zapalenie wątroby","synonyms":["Przewlekłe autoimmunologiczne zapalenie wątroby"]},"cs":{"name":"Chronická autoimunitní hepatitida","synonyms":["Autoimunitní hepatitida"]},"uk":{"name":"Аутоімунний гепатит","synonyms":["AIH"],"definition":"A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed."},"zh":{"name":"自身免疫性肝炎","synonyms":["AIH"]},"tr":{"name":"Otoimmün hepatit","synonyms":["AIH"]}},"xrefs":[{"source":"ICD-10","code":"K75.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"DB96.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1235727122"},{"source":"MONDO","code":"0016264","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721555","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5871","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10003827","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[{"orpha":563576,"name":"Autoimmune hepatitis type 1","type":"Clinical subtype"},{"orpha":563581,"name":"Autoimmune hepatitis type 2","type":"Clinical subtype"},{"orpha":563589,"name":"Seronegative autoimmune hepatitis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_24326217[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":23.5,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_24326217[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Norway","status":"Validated","source":"9489916[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.9,"area":"Norway","status":"Validated","source":"9489916[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.85,"area":"Sweden","status":"Validated","source":"18609163[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":24.5,"area":"New Zealand","status":"Validated","source":"20880179[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.95,"area":"Spain","status":"Validated","source":"15056409[PMID]_20163033[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.6,"area":"Spain","status":"Validated","source":"15056409[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.7,"area":"Sweden","status":"Validated","source":"18609163[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Israel","status":"Validated","source":"23815477[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Israel","status":"Validated","source":"23815477[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.68,"area":"Denmark","status":"Validated","source":"24326217[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":23.9,"area":"Denmark","status":"Validated","source":"24326217[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Singapore","status":"Validated","source":"11851837[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":42.9,"area":"Specific population","status":"Validated","source":"12358264[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-13","source":"30671977[PMID]_25920079[PMID]_28882739[PMID]_28432836[PMID]","terms":[{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030909","label":"Anti-liver cytosolic antigen type 1 antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003453","label":"Antineutrophil antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030908","label":"Liver kidney microsome type 1 antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031925","label":"Rosette","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003262","label":"Smooth muscle antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032469","label":"Anti-asialoglycoprotein receptor antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012522","label":"Spider hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200119","label":"Acute hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006555","label":"Diffuse hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003573","label":"Increased total bilirubin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100279","label":"Ulcerative colitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004787","label":"Fulminant hepatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006562","label":"Viral hepatitis","frequency":"Very rare (<4-1%)","criteria":null}]}}