{"orpha":227990,"name":"Autoimmune polyendocrinopathy type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APS type 4","APS4","Autoimmune polyendocrine syndrome type 4","Autoimmune polyglandular syndrome type 4"],"definition":"A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-227990/","orphanet_url":"https://www.orpha.net/en/disease/detail/227990","names":{"fr":{"name":"Polyendocrinopathie auto-immune type 4","synonyms":["APS type 4","APS4"],"definition":"Polyendocrinopathie auto-immune rare caractérisée par une activité auto-immune dirigée contre un organe endocrinien en association avec au moins un autre organe endocrinien ou non endocrinien. Les maladies auto-immunes caractéristiques de ce type sont le diabète insulinodépendant, l'anémie pernicieuse, l'alopécie, le vitiligo ou la myasthénie auto-immune, mais pas la maladie d'Addison, la maladie thyroïdienne ou l'hypoparathyroïdie."},"de":{"name":"Autoimmun-Polyendokrinopathie Typ 4","synonyms":["APS Typ 4","APS-4","Autoimmun-polyglanduläres Syndrom Typ 4"],"definition":"Eine seltene Autoimmun-Polyendokrinopathie, die durch eine Autoimmunaktivität gegen ein endokrines Organ in Kombination mit mindestens einem weiteren endokrinen oder nicht endokrinen Organ gekennzeichnet ist. Zu den typischen Autoimmunerkrankungen dieses Typs gehören insulinpflichtiger Diabetes, perniziöse Anämie, Alopezie, Vitiligo oder Myasthenia gravis, nicht jedoch Morbus Addison, Schilddrüsenerkrankungen oder Hypoparathyreoidismus."},"es":{"name":"Poliendocrinopatía autoinmune tipo 4","synonyms":["APS4","APS tipo 4"],"definition":"Es una poliendocrinopatía autoinmune poc frecuente caracterizada por actividad autoinmune contra un órgano endocrino en combinación con al menos otro órgano, endocrino o no. Las enfermedades autoinmunes típicas asociadas a este tipo son diabetes insulino-dependiente, anemia perniciosa, alopecia, vitiligo o miastenia grave, pero no la enfermedad de Addison, ni la enfermedad de la glándula tiroides ni el hipoparatiroidismo."},"it":{"name":"Poliendocrinopatia autoimmune tipo 4","synonyms":["APS, tipo 4","APS4","Sindrome poliendocrina autoimmune, tipo 4","Sindrome polighiandolare autoimmune, tipo 4"],"definition":"Si tratta di una poliendocrinopatia autoimmune rara, caratterizzata da un'attività autoimmune diretta contro un organo endocrino e almeno un altro organo endocrino o non endocrino. Le malattie autoimmuni caratteristiche comprendono il diabete insulino-dipendente, l'anemia perniciosa, l'alopecia, la vitiligine e la miastenia grave, ma non la malattia di Addison, la tireopatia o l'ipoparatiroidismo."},"nl":{"name":"Auto-immune polyendocrinopathie type 4","synonyms":["APS type 4","APS4","Auto-immuun polyendocrien syndroom type 4","Auto-immuun polyglandulair syndroom type 4"],"definition":"Een zeldzame auto-immune polyendocrinopathie, gekarakteriseerd door auto-immune activiteit tegen een endocrien orgaan in combinatie en minstens één ander endocrien of niet-endocrien orgaan. Typische auto-immuunziekten die optreden bij dit type zijn onder meer insulineafhankelijke diabetes, pernicieuze anemie, alopecie, vitiligo, of myasthenia gravis, maar niet ziekte van Addison, aandoening van schildklier, of hypoparathyreoïdie."},"pt":{"name":"Poliendocrinopatia autoimune tipo 4","synonyms":["APS tipo 4","APS4"]},"pl":{"name":"Poliendokrynopatia autoimmunologiczna 4","synonyms":["APS type 4","APS4","Autoimmunologiczny zespół wielogruczołowy typu 4","Autoimmunologiczny zespół niedoczynności wielogruczołowej typu 4"]},"cs":{"name":"Autoimunitní polyendokrinní syndrom, typ 4","synonyms":["APS typ 4","APS4","Autoimunitní polyglandulární syndrom, typ 4"]},"uk":{"name":"Аутоімунна поліендокринопатія, тип 4","synonyms":["APS тип 4","APS4","Автоімунний поліендокринний синдром 4 типу","Аутоімунний полігландулярний синдром типу 4"],"definition":"A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism."},"zh":{"name":"自身免疫性多内分泌病4型","synonyms":["自身免疫性多腺体综合征4型"]},"tr":{"name":"Otoimmün poliendokrinopati tip 4","synonyms":["APS4","APS tip 4","Otoimmün poliendokrin sendrom tip 4","Otoimmün poliglandüler sendrom tip 4"]}},"xrefs":[{"source":"ICD-10","code":"E31.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1561026337"},{"source":"MONDO","code":"0016423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3266026","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":282196,"name":"Autoimmune polyendocrinopathy","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-15","source":"19411300[PMID]_19322903[PMID]_26000153[PMID]_19645063[PMID]_20233565[PMID]_17880463[PMID]_16946565[PMID]_15597731[PMID]_8616531[PMID]_12843130[PMID]_15625773[PMID]_2218600[PMID]_7934446[PMID]_4053951[PMID]","terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002582","label":"Atrophic gastritis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010625","label":"Anterior pituitary dysgenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002613","label":"Biliary cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010451","label":"Aplasia/Hypoplasia of the spleen","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001094","label":"Iridocyclitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012220","label":"Non-caseating epithelioid cell granulomatosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100522","label":"Thymoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Excluded (0%)","criteria":null}]}}