{"orpha":3453,"name":"Autoimmune polyendocrinopathy type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APECED syndrome","APS type 1","APS1","Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome","Autoimmune polyendocrine syndrome type 1","Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome","Autoimmune polyglandular syndrome type 1","HAM syndrome","Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome","MEDAC syndrome","Multiple endocrine deficiency-Addison disease-candidiasis syndrome"],"definition":"A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3453/","orphanet_url":"https://www.orpha.net/en/disease/detail/3453","names":{"fr":{"name":"Polyendocrinopathie auto-immune type 1","synonyms":["APS type 1","APS1","Syndrome APECED","Syndrome HAM","Syndrome MEDAC","Syndrome d'hypoparathyroïdie auto-immune-candidose chronique-maladie d'Addison","Syndrome de déficit endocrinien multiple-maladie d'Addison-candidose","Syndrome de polyendocrinopathie auto-immune-candidose-dystrophie ectodermique","Syndrome polyglandulaire auto-immun type 1"],"definition":"Maladie génétique rare qui se manifeste dans l'enfance ou au début de l'adolescence, associant une candidose cutanéo-muqueuse chronique, une hypoparathyroïdie et une insuffisance surrénale d'origine auto-immune."},"de":{"name":"Autoimmun-Polyendokrinopathie Typ 1","synonyms":["APECED-Syndrom","APS Typ 1","APS-1","Autoimmun-Polyendokrinopathie - Candidose - Ektodermale Dystrophie","Autoimmun-polyendokrines Syndrom Typ 1","Autoimmun-polyglanduläres Syndrom Typ 1","Autoimmuner Hypoparathyreoidismus - chronische Kandidiasis - Addison-Krankheit","Autoimmunes-Polyendokrinopathie-Kandidiasis-Ektodermales-Dystrophie-Syndrom","HAM-Syndrom","Hypoparathyreoidismus - Addison-Krankheit - mukokutane Candidiasis","MEDAC-Syndrom"],"definition":"Die Autoimmun-Polyendokrinopathie Typ I, oder APECED-Syndrom (Autoimmun-Polyendokrinopathie - Candidiasis - Ektodermale Dystrophie), ist eine genetische Krankheit, die sich in der Kindheit oder der frühen Adoleszenz mit einer Kombination von chronischer muko-kutaner Candidiasis, Hypoparathyreoidismus und autoimmun bedingter Nebenniereninsuffizienz manifestiert."},"es":{"name":"Poliendocrinopatía autoinmune tipo 1","synonyms":["APS tipo 1","APS1","Síndrome APECED","Síndrome HAM","Síndrome MEDAC","Síndrome de deficiencia endocrina múltiple-enfermedad de Addison-candidiasis","Síndrome de hipoparatiroidismo autoinmune-candidiasis crónica-enfermedad de Addison","Síndrome de hipoparatiroidismo-enfermedad de Addison-candidiasis mucocutánea","Síndrome de poliendocrinopatía autoinmune-candidiasis-distrofia ectodérmica","Síndrome poliendocrino autoinmune tipo 1","Síndrome poliglandular autoinmune tipo 1"],"definition":"Es una enfermedad de origen genético poco frecuente que se manifiesta durante la infancia o la adolescencia temprana, con una combinación de candidiasis crónica mucocutánea, hipoparatiroidismo e insuficiencia suprarrenal autoinmune."},"it":{"name":"Poliendocrinopatia autoimmune tipo 1","synonyms":["APS, tipo 1","APS1","Ipoparatiroidismo autoimmune - candidosi cronica - malattia di Addison","Sindrome APECED","Sindrome HAM","Sindrome MEDAC","Sindrome deficit endocrino multiplo-malattia di Addison-candidosi","Sindrome ipoparatiroidismo autoimmune-candidiasi cronica-malattia di Addison","Sindrome ipoparatiroidismo-malattia di Addison-candidiasi","Sindrome poliendocrina autoimmune, tipo 1","Sindrome poliendocrinopatia autoimmune-candidiasi-distrofia ectodermica","Sindrome polighiandolare autoimmune, tipo 1"]},"nl":{"name":"Auto-immune polyendocrinopathie type 1","synonyms":["APECED-syndroom","APS type 1","APS1","Auto-immune hypoparathyreoïdie - chronische candidiasis - ziekte van Addison-syndroom","Auto-immune polyendocrinopathie - candidiasis - ectodermale dystrofie-syndroom","Auto-immuun polyendocrien syndroom type 1","Auto-immuun polyglandulair syndroom type 1","HAM-syndroom","Hypoparathyreoïdie - ziekte van Addison - mucocutane candidiasis-syndroom","MEDAC-syndroom","Meervoudige endocriene deficiëntie - ziekte van Addison - candidiasis-syndroom"],"definition":"Een zeldzame, genetische ziekte die zich manifesteert in de kindertijd of vroege adolescentie met een combinatie van chronische mucocutane candidiasis, hypoparathyreoïdie en auto-immune bijnierschorsinsufficiëntie."},"pt":{"name":"Poliendocrinopatia autoimune tipo 1","synonyms":["APS tipo 1","Síndrome APECED","Síndrome HAM","Síndrome MEDAC","Síndrome de hipoparatiroidismo autoimune-candidíase crónica-doença de Addison","Síndrome de hipoparatiroidismo-doença de Addison-candidíase mucocutânea","Síndrome de poliendocrinopatia autoimune tipo 1","Síndrome de poliendocrinopatia autoimune-candidíase-distrofia ectodérmica","Síndrome poliglandular autoimune tipo 1"],"definition":"A poliendocrinopatia auto-imune tipo 1, ou o síndrome de APECED, é uma doença genética que se manifesta na infância ou no início da adolescência com uma combinação de candidíase mucocutânea crónica, hipoparatiroidismo e insuficiência suprarrenal autoimune."},"pl":{"name":"Autoimmunologiczny zespół niedoczynności wielogruczołowej typu 1","synonyms":["APS1","APS typu 1","Zespół HAM","Zespół MEDAC","Zespół APECED","Autoimmunologiczny zespół wielogruczołowy typu 1","Zespół mnogiej niedoczynności endokrynologicznej, choroby Addisona i drożdżycy","Zespół niedoczynności przytarczyc, choroby Addisona i kandydozy śluzowo-skórnej","Zespół poliendokrynopatii autoimmunologicznej, drożdżycy i dystrofii ektodermalnej","Zespół autoimmunologicznej niedoczynności przytarczyc, przewkekłej drożdżycy i choroby Addisona"]},"cs":{"name":"Autoimunitní polyglandulární syndrom, typ 1","synonyms":["APEDEC syndrom","APS typ 1","APS1","Syndrom zahrnující autoimunitní hypoparatyreoidismus, chronickou kandidózu a Addisonovu chorobu","Autoimunitní polyendokrinní syndrom, typ 1","Syndrom zahrnující autoimunitní polyendokrinopatii, kandidózu a syndrom ektodermální dystrofie","Autoimunitní polyglandulární syndrom 1. typu","HAM syndrom","Syndrom zahrnující hypoparatyreoidismus, Addisonovu chorobu a mukokutánní kandidózu","MEDAC syndrom","APS syndrom 1. typu","Syndrom zahrnující mnohočetný endokrinní deficit, Addisonovu chorobu a kandidózu","Blizzardův syndrom"]},"uk":{"name":"Аутоімунна поліендокринопатія, тип 1","synonyms":["Синдром APECED","APS тип 1","APS1","Аутоімунний гіпопаратиреоз - хронічний кандидоз - синдром хвороби Аддісона","Аутоімунний поліендокринний синдром типу 1","Синдром аутоімунної поліендокринопатії-кандидозу-ектодермальної дистрофії","Аутоімунний полігландулярний синдром, тип 1","HAM-синдром","Синдром гіпопаратиреозу - хвороби Аддісона - слизово-шкірного кандидозу","Синдром MEDAC","Синдром множинного ендокринного дефіциту - хвороби Аддісона - кандидозу"],"definition":"A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure."},"zh":{"name":"自身免疫性多内分泌腺病1型","synonyms":["自身免疫性甲状旁腺功能减退症-慢性念珠菌病-爱迪生病综合征"]},"tr":{"name":"Otoimmün poliendokrinopati tip 1","synonyms":["APS1","APS tip 1","HAM sendromu","MEDAC sendromu","APECED sendromu","Otoimmün poliendokrin sendromu tip 1","Otoimmün poliglandüler sendrom tip 1","Çoklu endokrin eksikliği-Addison hastalığı-kandidiyaz sendromu","Hipoparatiroidi-Addison hastalığı-mukokutanöz kandidiyaz sendromu","Otoimmün poliendokrinopati-kandidiyaz-ektodermal distrofi sendromu","Otoimmün hipoparatiroidi-kronik kandidiyaz-Addison hastalığı sendromu"]}},"xrefs":[{"source":"OMIM","code":"240300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E31.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5B00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1646077225"},{"source":"MONDO","code":"0009411","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538275","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8466","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036072","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":101960,"name":"Genetic chronic primary adrenal insufficiency","classifications":[156,193]},{"orpha":208593,"name":"Genetic hypoparathyroidism","classifications":[156]},{"orpha":183643,"name":"Genetic polyendocrinopathy","classifications":[156]},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"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]},{"orpha":181405,"name":"Rare hypoparathyroidism","classifications":[193]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"AIRE","name":"autoimmune regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22460196[PMID]_23342054[PMID]","hgnc":"360","ensembl":"ENSG00000160224","omim":"607358","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Finland","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-15","source":"25905251[PMID]_25905375[PMID]_30725896[PMID]_35690244[PMID]","terms":[{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002728","label":"Chronic mucocutaneous candidiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034071","label":"Anti-21-hydroxylase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034055","label":"Anti-side-chain cleavage enzyme antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100502","label":"Decreased circulating vitamin B12 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001096","label":"Keratoconjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001746","label":"Asplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002582","label":"Atrophic gastritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008720","label":"Primary testicular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null}]}}