{"orpha":227982,"name":"Autoimmune polyendocrinopathy type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APS type 3","APS3","Autoimmune polyendocrine syndrome type 3","Autoimmune polyglandular syndrome type 3"],"definition":"A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-227982/","orphanet_url":"https://www.orpha.net/en/disease/detail/227982","names":{"fr":{"name":"Polyendocrinopathie auto-immune type 3","synonyms":["APS type 3","APS3","Syndrome polyglandulaire auto-immun type 3"],"definition":"Maladie endocrinienne rare caractérisée par une maladie auto-immune de la thyroïde associée à au moins une autre maladie auto-immune, telle que le diabète sucré de type I, la gastrite chronique atrophique, l'anémie pernicieuse, le vitiligo, l'alopécie ou la myasthénie grave, à l'exclusion, cependant, de la maladie d'Addison."},"de":{"name":"Autoimmun-Polyendokrinopathie Typ 3","synonyms":["APS Typ 3","APS-3","Autoimmun-polyglanduläres Syndrom Typ 3"]},"es":{"name":"Poliendocrinopatía autoinmune tipo 3","synonyms":["APS tipo 3","APS3","SAP tipo 3"],"definition":"Es una enfermedad endocrina poco frecuente, caracterizada por enfermedad tiroidea autoinmune asociada con, al menos, otra enfermedad autoinmune, tal como diabetes mellitus tipo I, gastritis crónica atrófica, anemia perniciosa, vitíligo, alopecia o miastenia gravis, con excepción de la enfermedad de Addison."},"it":{"name":"Poliendocrinopatia autoimmune, tipo 3","synonyms":["APS, tipo 3","APS3","Sindrome poliendocrina autoimmune, tipo 3","Sindrome polighiandolare autoimmune, tipo 3"],"definition":"La poliendocrinopatia autoimmune tipo 3 è un'endocrinopatia rara, caratterizzata da tiroidite autoimmune associata ad almeno un'altra malattia autoimmune, come il diabete mellito tipo I, la gastrite atrofica cronica, l'anemia perniciosa, la vitiligine, l'alopecia o la miastenia grave, ma in assenza della malattia di Addison."},"nl":{"name":"Auto-immune polyendocrinopathie type 3","synonyms":["APS type 3","APS3","Auto-immuun polyendocrien syndroom type 3","Auto-immuun polyglandulair syndroom type 3"],"definition":"Een zeldzame, endocriene ziekte, gekarakteriseerd door auto-immune schildklierziekte geassocieerd met minstens één andere auto-immuunziekte, zoals type I diabetes mellitus, chronische atrofische gastritis, pernicieuze anemie, vitiligo, alopecie of myasthenia gravis, maar zonder ziekte van Addison."},"pt":{"name":"Poliendocrinopatia autoimune tipo 3"},"pl":{"name":"Poliendokrynopatia autoimmunologiczna typu 3","synonyms":["APS type 3","APS3","Autoimmunologiczny zespół wielogruczołowy typu 3","Autoimmunologiczny zespół niedoczynności wielogruczołowej typu 3"],"definition":"*Poliendokrynopatia autoimmunologiczna typu 3 jest rzadką chorobą endokrynologiczną, która charakteryzuje się autoimmunologiczną chorobą tarczycy i co najmniej jedną inną chorobą autoimmunologiczną, taką jak cukrzyca typu I, przewlekłe zanikowe zapalenie błony śluzowej żołądka, niedokrwistość złośliwa, bielactwo, łysienie lub miastenia, ale z wyłączeniem choroby Addisona."},"cs":{"name":"Autoimunitní polyendokrinní syndrom, typ 3","synonyms":["APS typ 3","APS3","Autoimunitní polyglandulární syndrom, typ 3"]},"uk":{"name":"Аутоімунна поліендокринопатія, тип 3","synonyms":["APS тип 3","APS3","Аутоімунний поліендокринний синдром типу 3","Аутоімунний полігландулярний синдром типу 3"],"definition":"A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease."},"zh":{"name":"自身免疫性多内分泌病3型","synonyms":["自身免疫性多腺体综合征3型"],"definition":"一种罕见的内分泌疾病，其特征是自身免疫性甲状腺疾病并与至少一种其他自身免疫性疾病相关，如I型糖尿病、慢性萎缩性胃炎、恶性贫血、白癜风、脱发或重症肌无力，但不包括艾迪生病。"},"tr":{"name":"Otoimmün poliendokrinopati tip 3","synonyms":["APS3","APS tip 3","Otoimmün poliendokrin sendrom tip 3","Otoimmün poliglandüler sendrom tip 3"]}},"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":"1361747293"},{"source":"MONDO","code":"0016422","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1535942","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10980","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064115","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]},{"orpha":177101,"name":"Rare adult hypothyroidism","classifications":[193]},{"orpha":181371,"name":"Rare diabetes mellitus type 1","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-13","source":"19411300[PMID]_19322903[PMID]_26000153[PMID]_19645063[PMID]_20233565[PMID]_17880463[PMID]_16946565[PMID]_15597731[PMID]_8616531[PMID]_12843130[PMID]_15625773[PMID]_22278434[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:0100647","label":"Graves disease","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"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:0011771","label":"Autoimmune hypoparathyroidism","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:0008207","label":"Primary adrenal insufficiency","frequency":"Excluded (0%)","criteria":null}]}}