{"orpha":563589,"name":"Seronegative autoimmune hepatitis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Autoantibody-negative autoimmune hepatitis","Seronegative AIH"],"definition":"A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-563589/","orphanet_url":"https://www.orpha.net/en/disease/detail/563589","names":{"fr":{"name":"Hépatite auto-immune séronégative","synonyms":["HAI séronégative"],"definition":"Forme d'hépatite auto-immune caractérisée par les signes typiques de l'hépatite auto-immune (présentation clinique à type d'hépatite aiguë ou chronique d'étiologie inconnue, hépatite d'interface à l'examen histologique, taux sériques d'aspartate aminotransférase et d'alanine aminotransférase élevés, hypergammaglobulinémie/taux d'immunoglobulines G élevés, réponse thérapeutique aux corticoïdes), en l'absence d'auto-anticorps sériques. Les manifestations cliniques comprennent fatigue, malaise, arthralgie et ictère. Aux stades plus tardifs, des signes de maladie hépatique chronique avancée sont également observés, à savoir angiome stellaire, maladie de Cruveilhier-Baumgarten, spénomégalie, ascites et érythème palmaire. La présence d'autres maladies auto-immunes concomitantes est fréquemment rapportée."},"de":{"name":"Hepatitis, autoimmune seronegative","synonyms":["AIH, seronegative","Autoantikörper-negative autoimmune Hepatitis"],"definition":"Ein Subtyp der Autoimmunhepatitis, der durch die Merkmale der klassischen Autoimmunhepatitis gekennzeichnet ist (d. h. klinische Präsentation als akute oder chronische kryptogene Hepatitis, Interface-Hepatitis in der histologischen Untersuchung, erhöhte Aspartat-Aminotransferase- und Alanin-Aminotransferase-Werte im Serum, Hypergammaglobulinämie/erhöhtes Immunglobulin G, therapeutisches Ansprechen auf Kortikosteroide), ohne dass Autoantikörper im Serum vorhanden sind. Zu den klinischen Manifestationen gehören Müdigkeit, Unwohlsein, Arthralgien, Ikterus und in späteren Stadien Zeichen einer fortgeschrittenen chronischen Lebererkrankung wie Spider-Nävi, Caput medusae, Splenomegalie, Aszites und Palmarerythem. Häufig werden gleichzeitig Autoimmunerkrankungen beobachtet."},"es":{"name":"Hepatitis autoinmune seronegativa","synonyms":["HAI seronegativa","Hepatitis autoinmune con autoanticuerpos negativos"],"definition":"Es una forma de hepatitis autoinmune caracterizada por los rasgos de la hepatitis autoinmune clásica (es decir, presentación clínica como hepatitis criptogénica aguda o crónica, hepatitis de interfase en el examen histológico, elevación de los niveles séricos de aspartato aminotransferasa y alanina aminotransferasa, hipergammaglobulinemia/ inmunoglobulina G elevada, respuesta terapéutica a los corticosteroides) en ausencia de autoanticuerpos en suero. Las manifestaciones clínicas incluyen cansancio, malestar general, artralgia, ictericia y, en etapas posteriores, signos de enfermedad hepática crónica avanzada, como nevo aracniforme, caput medusae, esplenomegalia, ascitis y eritema palmar. Con frecuencia se observa la presencia de enfermedades autoinmunes concurrentes."},"it":{"name":"Epatite autoimmune siero-negativa","synonyms":["EA siero-negativa","Epatite autoimmune negativa agli autoanticorpi"],"definition":"Si tratta di una forma di epatite autoimmune caratterizzata dai segni clinici dell'epatite autoimmune classica (epatite criptogenetica acuta o cronica, epatite di interfaccia all'esame istologico, livelli elevati di aspartato aminotransferasi e alanina aminotransferasi nel siero, ipergammaglobulinemia/livelli elevati di immunoglobuline G, risposta alla terapia a base di corticosteroidi), in assenza di autoanticorpi nel siero. I segni clinici comprendono l'affaticamento, il malessere, l'artralgia e l'ittero; negli stadi più avanzati della malattia, i pazienti presentano i sintomi della malattia epatica cronica avanzata, come i nevi aracniformi, il caput medusae, la splenomegalia, l'ascite e l'eritema palmare. Spesso coesistono malattie autoimmuni."},"nl":{"name":"Seronegatieve auto-immune hepatitis","synonyms":["Autoantilichaam-negatieve auto-immune hepatitis","Seronegatieve AIH"],"definition":"Een vorm van auto-immune hepatitis, gekenmerkt door de kenmerken van klassieke auto-immune hepatitis (i.e. klinische presentatie als acute of chronische cryptogene hepatitis, grensvlak-hepatitis bij histologisch onderzoek, verhoogde gehaltes van aspartaat-aminotransferase en alanine-aminotransferase in serum, hypergammaglobulinemie/verhoogd immunoglobuline G, therapeutische respons op corticosteroïden) in afwezigheid van auto-antilichamen in serum. Klinische manifestaties zijn onder meer vermoeidheid, malaise, artralgie, geelzucht, en in latere stadia ook verschijnselen van gevorderde chronische leverziekte, zoals spinnaevi, caput medusae (spataderen rond de navel), splenomegalie, ascites, en erytheem van handpalm. Aanwezigheid van gelijktijdige auto-immuunziekten wordt vaak waargenomen."},"pt":{"name":"Hepatite autoimune seronegativa"},"pl":{"name":"Autoimmunologiczne zapalenie wątroby seronegatywne","synonyms":["Autoantibody-negative autoimmune hepatitis","Seronegative AIH"]},"cs":{"name":"Séronegativní autoimunitní hepatitida","synonyms":["Autoantibody-negative autoimmune hepatitis","Seronegative AIH"]},"uk":{"name":"Серонегативний аутоімунний гепатит","synonyms":["Аутоантитілонегативний аутоімунний гепатит","Серонегативний АІГ"],"definition":"A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed."},"zh":{"name":"血清反应阴性自身免疫性肝炎","synonyms":["自身抗体阴性自身免疫性肝炎"]},"tr":{"name":"Seronegatif otoimmün hepatit","synonyms":["Seronegatif AIH","Otoantikor negatif otoimmün hepatit"]}},"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":"780794174"},{"source":"MONDO","code":"0035400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680121","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}