{"orpha":3143,"name":"Autoimmune polyendocrinopathy type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APS type 2","APS2","Autoimmune polyendocrine syndrome type 2","Autoimmune polyglandular syndrome type 2","Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome","Schmidt syndrome"],"definition":"A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3143/","orphanet_url":"https://www.orpha.net/en/disease/detail/3143","names":{"fr":{"name":"Polyendocrinopathie auto-immune type 2","synonyms":["APS type 2","APS2","Syndrome de Schmidt","Syndrome de maladie auto-immune de la thyroïde et/ou diabète de type 1-maladie d'Addison","Syndrome polyglandulaire auto-immun type 2"],"definition":"Maladie endocrinienne rare caractérisée par la maladie d'Addison auto-immune associée à la maladie auto-immune de la thyroïde ou au diabète sucré de type I, ou aux deux, en l'absence de candidose chronique. D'autres maladies endocriniennes (hypogonadisme, hypoparathyroïdie) et non endocriniennes (vitiligo, hépatite auto-immune, gastrite auto-immune, anémie pernicieuse et myasthénie) peuvent être présentes."},"de":{"name":"Autoimmun-Polyendokrinopathie Typ 2","synonyms":["APS Typ 2","APS-2","Autoimmun-polyglanduläres Syndrom Typ 2","Autoimmune Schilddrüsenkrankheit und/oder Typ 1 Diabetes - Addison-Krankheit","Schmidt-Syndrom"]},"es":{"name":"Poliendocrinopatía autoinmune tipo 2","synonyms":["APS tipo 2","APS2","Enfermedad tiroidea autoinmune y/o diabetes tipo 1-enfermedad de Addison","Síndrome de Schmidt","Síndrome poliendocrino autoinmune tipo 2","Síndrome poliglandular autoinmune tipo 2"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por la enfermedad de Addison autoinmune asociada a enfermedad autoinmune tiroidea, diabetes mellitus tipo I, o ambas, y sin candidiasis crónica. También se puede asociar a la presencia de enfermedades endocrinas adicionales (hipogonadismo, hipoparatiroidismo) y enfermedades no endocrinas (vitíligo, hepatitis autoinmune, gastritis autoinmune, anemia perniciosa y miastenia gravis)."},"it":{"name":"Poliendocrinopatia autoimmune, tipo 2","synonyms":["APS, tipo 2","APS2","Malattia tiroidea autoimmune e/o diabete tipo 1 - malattia di Addison","Sindrome di Schmidt","Sindrome poliendocrina autoimmune, tipo 2","Sindrome polighiandolare autoimmune, tipo 2"],"definition":"La poliendocrinopatia autoimmune tipo 2 è un'endocrinopatia rara, caratterizzata dalla malattia autoimmune di Addison associata alla tiroidite autoimmune o al diabete mellito tipo I o ad entrambe le malattie, in assenza di candidiasi cronica. Possono associarsi altre malattie endocrine (ipogonadismo, ipoparatiroidismo) e non endocrine (vitiligine, epatite autoimmune, gastrite autoimmune, anemia perniciosa e miastenia grave)."},"nl":{"name":"Auto-immune polyendocrinopathie type 2","synonyms":["APS type 2","APS2","Auto-immune schildklierziekte en/of type 1-diabetes - ziekte van Addison","Auto-immuun polyendocrien syndroom type 2","Auto-immuun polyglandulair syndroom type 2","Schmidtsyndroom"],"definition":"Een zeldzame, endocriene ziekte, gekarakteriseerd door auto-immune ziekte van Addison geassocieerd met auto-immune schildklierziekte of type I diabetes mellitus, of beide, zonder chronische candidiasis. Bijkomende endocriene (hypogonadisme, hypoparathyreoïdie) en niet-endocriene ziekten (vitiligo, auto-immune hepatitis, auto-immune gastritis, pernicieuze anemie, en myasthenia gravis) kunnen aanwezig zijn."},"pt":{"name":"Poliendocrinopatia auto-imune tipo 2","synonyms":["APS tipo 2","APS2","Síndrome Schmidt","Síndrome de poliendocrinopatia auto-imune tipo 2","Síndrome poliglandular auto-imune tipo 2"]},"pl":{"name":"Poliendokrynopatia autoimmunologiczna typu 2","synonyms":["APS typu 2","APS2","Autoimmunologiczna choroba tarczycy i/lub cukrzyca typu 1 - choroba Addisona","Autoimmunologiczny zespół wielogruczołowy typu 2","Zespół poliendokrynopatii autoimmunologicznej typu 2","Zespół Schmidta"],"definition":"*Poliendokrynopatia autoimmunologiczna typu 2 jest rzadką, chorobą endokrynologiczną, która charakteryzuje się chorobą Addisona o podłożu autoimmunologicznym z autoimmunologiczną chorobą tarczycy lub cukrzycą typu I lub obiema chorobami jednocześnie, bez przewlekłej kandydozy. Mogą występować dodatkowe choroby endokrynologiczne (hipogonadyzm, niedoczynność przytarczyc) i inne choroby nieendokrynologiczne (bielactwo, autoimmunologiczne zapalenie wątroby, autoimmunologiczne zapalenie żołądka, niedokrwistość złośliwa lub miastenia)."},"cs":{"name":"Autoimunitní polyendokrinopatie, typ 2","synonyms":["APS typ 2","APS2","Autoimunitní polyendokrinní syndrom, typ 2","Autoimunitní polyglandulární syndrom, typ 2","Syndrom zahrnující Addisonovu nemoc a/nebo autoimunitní tyreoiditidu a/nebo diabetes 1.typu","Schmidtův syndrom"]},"uk":{"name":"Аутоімунна поліендокринопатія, тип 2","synonyms":["APS тип 2","APS2","Аутоімунний поліендокринний синдром 2 типу","Аутоімунний полігландулярний синдром 2 типу","Синдром аутоімунного захворювання щитовидної залози та/або діабет 1 типу - хвороби Аддісона","Синдром Шмідта"],"definition":"A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present."},"zh":{"name":"自身免疫性多内分泌腺病2型","synonyms":["自身免疫性甲状腺疾病和/或1型糖尿病-艾迪生病综合征"]},"tr":{"name":"Otoimmün poliendokrinopati tip 2","synonyms":["APS2","APS tip 2","Schmidt sendromu","Otoimmün poliendokrin sendromu tip 2","Otoimmün poliglandüler sendrom tip 2","Otoimmün tiroid hastalığı ve / veya tip 1 diyabet-Addison hastalığı sendromu"]}},"xrefs":[{"source":"OMIM","code":"269200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E31.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5B00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1065249344"},{"source":"MONDO","code":"0010012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036073","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101963,"name":"Acquired chronic primary adrenal insufficiency","classifications":[193]},{"orpha":282196,"name":"Autoimmune polyendocrinopathy","classifications":[193]},{"orpha":95709,"name":"Rare acquired premature ovarian failure","classifications":[156,193,205]},{"orpha":399853,"name":"Rare female infertility due to an anomaly of ovarian function","classifications":[201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034061","label":"Anti-steroid 17alpha-hydroxylase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null}]}}