{"orpha":282196,"name":"Autoimmune polyendocrinopathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["APS","Autoimmune polyglandular syndrome"],"definition":"A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-282196/","orphanet_url":"https://www.orpha.net/en/disease/detail/282196","names":{"fr":{"name":"Polyendocrinopathie auto-immune","synonyms":["APS"],"definition":"Groupe de maladies endocriniennes rares caractérisé par une activité auto-immune dirigée contre plusieurs organes endocriniens, avec éventuellement une atteinte d'organes non endocriniens. L'auto-immunité est généralement dirigée contre différents antigènes cibles dans différents tissus. La cause génétique est prépondérante dans les deux syndromes polyendocriniens auto-immuns (APS) les plus courants, les APS de type 1 et de type 2, dont la caractéristique principale est la maladie d'Addison. Le groupe comprend en outre les APS de type 3 et de type 4."},"de":{"name":"Polyendokrinopathie, autoimmune","synonyms":["Autoimmun-polyglanduläres Syndrom"],"definition":"Eine Gruppe seltener endokriner Erkrankungen, die durch eine Autoimmunaktivität gegen mehr als ein endokrines Organ gekennzeichnet sind, wobei möglicherweise auch nicht-endokrine Organe betroffen sind. Die Autoimmunität richtet sich in der Regel gegen verschiedene Zielantigene in unterschiedlichen Geweben. Die beiden häufigeren autoimmunen polyendokrinen Syndrome (APS), APS Typ 1 und Typ 2, haben einen starken genetischen Hintergrund und weisen als Hauptmerkmal die Addison-Krankheit auf. Zu dieser Gruppe gehören außerdem APS Typ 3 und Typ 4."},"es":{"name":"Poliendocrinopatía autoinmune","synonyms":["SPA","Síndrome poliglandular autoinmune"],"definition":"Es un grupo de enfermedades endocrinas poco frecuentes caracterizado por una actividad autoinmune contra más de un órgano endocrino, con posible afectación adicional de órganos no endocrinos. La autoinmunidad se dirige típicamente contra diferentes antígenos diana en diversos tejidos. Los dos síndromes poliendocrinos autoinmunes (SPA) más comunes, SPA tipo 1 y tipo 2, tienen un fuerte componente genético, conla enfermedad de Addison como característica principal. Además, el grupo incluye SPA tipo 3 y tipo 4."},"it":{"name":"Poliendocrinopatia autoimmune","synonyms":["APS","Sindrome polighiandolare autoimmune"],"definition":"Si tratta di un gruppo di endocrinopatie rare, caratterizzate da un'attività autoimmune diretta contro più organi endocrini, con un possibile interessamento degli organi non endocrini. Di solito l'autoimmunità è diretta contro diversi antigeni bersaglio in svariai tessuti. Le due poliendocrinopatie autoimmuni (APS) più comuni, la APS tipo 1 e tipo 2, hanno una forte base genetica; in entrambe la malattia di Addison è il segno clinico principale. Nel gruppo rientrano anche la APS tipo 3 e tipo 4."},"nl":{"name":"Auto-immune polyendocrinopathie","synonyms":["APS","Auto-immuun polyglandulair syndroom"],"definition":"Een groep van zeldzame endocriene aandoeningen, gekarakteriseerd door auto-immune activiteit tegen meer dan één endocrien orgaan, met mogelijk bijkomende betrokkenheid van niet-endocriene organen. Auto-immuniteit is doorgaans gericht tegen verschillende doelwitantigenen in verschillende weefsels. De twee meer gangbare auto-immune polyendocriene syndromen (APS), APS type 1 en type 2, hebben een sterke genetische achtergrond en hebben ziekte van Addison als voornaamste kenmerk. Verder omvat deze groep APS type 3 en type 4."},"pt":{"name":"Poliendocrinopatia autoimune","synonyms":["APS","Síndrome poliglandular autoimune"]},"pl":{"name":"Poliendokrynopatia autoimmunologiczna","synonyms":["APS","Autoimmunologiczny zespół wielogruczołowy"]},"cs":{"name":"Autoimunitní polyendokrinopatie","synonyms":["APS","Autoimunitní polyglandulární syndrom"]},"uk":{"name":"Аутоімунна поліендокринопатія","synonyms":["APS","Аутоімунний полігландулярний синдром"],"definition":"A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4."},"zh":{"name":"自身免疫性多内分泌病","synonyms":["自身免疫性多腺体综合征"]},"tr":{"name":"Otoimmün poliendokrinopati","synonyms":["APS","Otoimmün poliglandüler sendrom"]}},"xrefs":[{"source":"ICD-10","code":"E31.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5B00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"548357900"},{"source":"MONDO","code":"0017278","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17278","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101956,"name":"Polyendocrinopathy","classifications":[193]}],"children":[{"orpha":3453,"name":"Autoimmune polyendocrinopathy type 1","type":"Disease"},{"orpha":3143,"name":"Autoimmune polyendocrinopathy type 2","type":"Disease"},{"orpha":227982,"name":"Autoimmune polyendocrinopathy type 3","type":"Disease"},{"orpha":227990,"name":"Autoimmune polyendocrinopathy type 4","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}