{"orpha":563576,"name":"Autoimmune hepatitis type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["AIH type 1"],"definition":"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), and/or anti-soluble liver antigen/liver pancreas antigen antibodies (anti-SLA/LP). The disease predominantly develops at a post-pubertal age and most commonly takes a chronic course, although acute or acute severe presentation may also be observed. Typical concurrent autoimmune diseases are autoimmune thyroiditis and rheumatic diseases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-563576/","orphanet_url":"https://www.orpha.net/en/disease/detail/563576","names":{"fr":{"name":"Hépatite auto-immune type 1","synonyms":["HAI type 1"],"definition":"Forme d'hépatite auto-immune caractérisée par une présentation clinique à type d'hépatite d'étiologie inconnue, une hépatite d'interface à l'examen histologique, des taux sériques d'aminotransférases élevés, une hypergammaglobulinémie/des taux d'immunoglobulines G élevés, et la présence d'anticorps circulants, notamment d'anticorps antinucléaires (ANA), d'anticorps anti-muscle lisse (anti-SMA), et/ou d'anticorps anti-SLA/LP (anti-soluble liver antigen/liver pancreas). Bien que des présentations aiguës ou très aiguës puissent être observées, il s'agit d'une maladie chronique qui se développe principalement après la puberté. Les autres maladies auto-immunes concomitantes typiques sont la thyroïdite auto-immune et les maladies rhumatoïdes."},"de":{"name":"Hepatitis, autoimmune, Typ 1","synonyms":["AIH Typ 1"],"definition":"Ein Subtyp der Autoimmunhepatitis, der sich klinisch als kryptogene Hepatitis darstellt. Bei der histologischen Untersuchung finden sich eine Interface-Hepatitis, erhöhte Aminotransferasewerte im Serum, eine Hypergammaglobulinämie/erhöhtes Immunglobulin G und zirkulierende Autoantikörper, insbesondere antinukleäre Antikörper (ANA), Anti-Smooth-Muscle-Antikörper (Anti-SMA) und/oder Anti-SLA/L-Antikörper."},"es":{"name":"Hepatitis autoinmune tipo 1","synonyms":["HAI tipo 1"],"definition":"Es una forma de hepatitis autoinmune caracterizada por una presentación clínica que se manifiesta como hepatitis criptogénica, hepatitis de interfase en el examen histológico, elevación de los niveles séricos de aminotransferasas séricas, hipergammaglobulinemia/ inmunoglobulina G elevada, y presencia de autoanticuerpos circulantes, específicamente anticuerpos antinucleares (ANA), anticuerpos anti-músculo liso (anti-SMA), y/o anticuerpos anti-antígenos solubles hepático y hepático-pancreático (anti-SLA/LP). La enfermedad se desarrolla predominantemente en la edad pospuberal y suele seguir un curso crónico, aunque también puede observarse una presentación aguda o grave. Las enfermedades autoinmunes concurrentes típicas son la tiroiditis autoinmune y las enfermedades reumáticas."},"it":{"name":"Epatite autoimmune tipo 1","synonyms":["EA tipo 1"],"definition":"Si tratta di una forma di epatite autoimmune caratterizzata, dal punto di vista clinico, da epatite criptogenetica, epatite di interfaccia all'esame istologico, livelli elevati di aminotransferasi nel siero, ipergammaglobulinemia/livelli elevati di immunoglobuline G, e presenza di autoanticorpi circolanti, in particolare anticorpi antinucleari (ANA), anticorpi anti-muscolo liscio (anti-SMA) e/o anticorpi anti antigene epatico solubile/antigene fegato-pancreas (anti-SLA/LP). Di solito la malattia si manifesta dopo la pubertà e ha un decorso cronico, sebbene siano state descritte forme acute o acute gravi. Le tipiche malattie autoimmuni concomitanti sono la tiroidite autoimmune e le malattie reumatiche."},"nl":{"name":"Auto-immune hepatitis type 1","synonyms":["AIH type 1"],"definition":"Een vorm van auto-immune hepatitis, gekenmerkt door klinische presentatie als cryptogene hepatitis, grensvlak-hepatitis bij histologisch onderzoek, verhoogde gehaltes van aminotransferasen in serum, hypergammaglobulinemie/verhoogd immunoglobuline G, en aanwezigheid van circulerende auto-antilichamen, vooral antinucleaire antilichamen (ANA), antilichamen tegen gladde spier (anti-SMA), en/of antilichamen tegen oplosbaar lever-antigeen/lever-pancreas-antigeen (anti-SLA/LP). De ziekte ontwikkelt zich vooral op een postpuberale leeftijd, en kent doorgaans een chronisch verloop, maar acute of acute ernstige presentatie kan ook waargenomen worden. Typische gelijktijdige auto-immuunziekten zijn auto-immune thyreoïditis en reumatische aandoeningen."},"pt":{"name":"Hepatite autoimune tipo 1"},"pl":{"name":"Autoimmunizacyjne zapalenie wątroby typu 1","synonyms":["AIH type 1"]},"cs":{"name":"Autoimunitní hepatitida typu 1","synonyms":["AIH type 1"]},"uk":{"name":"Аутоімунний гепатит, тип 1","synonyms":["AIH тип 1"],"definition":"A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), and/or anti-soluble liver antigen/liver pancreas antigen antibodies (anti-SLA/LP). The disease predominantly develops at a post-pubertal age and most commonly takes a chronic course, although acute or acute severe presentation may also be observed. Typical concurrent autoimmune diseases are autoimmune thyroiditis and rheumatic diseases."},"zh":{"name":"自身免疫性肝炎1型","synonyms":["AIH type 1"]},"tr":{"name":"Otoimmün hepatit tip 1","synonyms":["AIH tip 1"]}},"xrefs":[{"source":"ICD-10","code":"K75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB96.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"260422751"},{"source":"MONDO","code":"0005543","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303164","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":2137,"name":"Autoimmune hepatitis","classifications":[183,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[],"phenotypes":null}