{"orpha":85138,"name":"Addison disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autoimmune Addison disease","Autoimmune adrenalitis","Classic Addison disease","Primary Addison disease","Primary adrenal insufficiency"],"definition":"A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85138/","orphanet_url":"https://www.orpha.net/en/disease/detail/85138","names":{"fr":{"name":"Maladie d'Addison","synonyms":["Insuffisance surrénale primaire","Maladie d'Addison auto-immune","Maladie d'Addison classique","Maladie d'Addison primaire"],"definition":"Maladie endocrinienne chronique rare due à une destruction auto-immune du cortex surrénalien, entraînant une carence en glucocorticoïdes et en minéralocorticoïdes. Stricto sensu, ce terme désigne l'adénite auto-immune, mais il est couramment utilisé pour décrire toute forme d'insuffisance surrénalienne chronique primaire (ISCP)."},"de":{"name":"Addison-Krankheit","synonyms":["Addison-Krankheit, autoimmune","Addison-Krankheit, klassische","Addison-Krankheit, primäre","Adrenalitis, autoimmune","Autoimmune Adrenalitis","Primäre Nebenniereninsuffizienz"],"definition":"Die Addison-Krankheit (AD) ist eine chronische endokrine Störung, verursacht durch autoimmun bedingte Zerstörung der Nebennierenrinde. Sie führt zu einem Glukokortikoid- und Mineralokortikoid-Mangel. Prinzipiell handelt es sich bei der AD um eine autoimmune Adrenalitis, jedoch wird der Begriff meist verwendet, um jede Form einer chronischen primären Nebenniereninsuffizienz (CPAI; siehe dort) zu bezeichnen."},"es":{"name":"Enfermedad de Addison","synonyms":["Enfermedad de Addison autoinmune","Enfermedad de Addison clásica","Enfermedad de Addison primaria","Insuficiencia suprarrenal primaria","Adrenalitis autoinmune"],"definition":"Es un trastorno endocrino poco frecuente y crónico debido a una destrucción autoinmune de la corteza suprarrenal que propicia un déficit de glucocorticoides y mineralocorticoides. En sentido estricto, designa la adrenalitis autoinmune, pero también se usa para describir cualquier forma de insuficiencia suprarrenal crónica primaria (CPAI, por sus siglas en inglés)."},"it":{"name":"Malattia di Addison","synonyms":["Insufficienza surrenalica primaria","Adrenalite autoimmune","Malattia di Addison autoimmune","Malattia di Addison classica","Malattia di Addison primitiva"],"definition":"La malattia di Addison (AD) è una rara patologia endocrina cronica da distruzione autoimmune della corteccia dei surreni, che esita nel deficit di glucocorticoidi e mineralcorticoidi. La AD identifica l'adrenalite autoimmune, termine largamente utilizzato per descrivere qualsiasi forma di insufficienza surrenalica primitiva cronica (CPAI)."},"nl":{"name":"Ziekte van Addison","synonyms":["Auto-immune adrenalitis","Auto-immune ziekte van Addison","Klassieke ziekte van Addison","Primaire bijnierschorsinsufficiëntie","Primaire ziekte van Addison"],"definition":"Een chronische en zeldzame endocriene aandoening als gevolg van auto-immune afbraak van bijnierschors, met glucocorticoïd- en mineralocorticoïddeficiëntie als resultaat. Strikt genomen wijst het op auto-immune adrenalitis, maar de term wordt algemeen gebruikt om eender welke vorm van chronische primaire bijnierschorsinsufficiëntie (CPAI) te beschrijven."},"pt":{"name":"Doença Addison","synonyms":["Adrenalite autoimune","Insuficiência suprarrenal primária","Doença Addison autoimune","Doença Addison clássica","Doença Addison primária"],"definition":"A doença de Addison (AD) é uma doença endócrina rara e crónica resultante da destruição auto-imune do córtex da supra-renal, resultando num défice de glico e mineralocorticóides. Em termos restritos a AD designa a adrenalite auto-imune, mas é também um termo frequentemente usado para descrever qualquer forma de insuficiência supra-renal primária crónica (CPAI; ver este termo)."},"pl":{"name":"Choroba Addisona","synonyms":["Autoimmunologiczna choroba Addisona","Autoimmunologiczne zapalenie nadnerczy","Klasyczna choroba Addisona","Pierwotna choroba Addisona"]},"cs":{"name":"Addisonova choroba","synonyms":["Autoimunitní Addisonova choroba","Autoimunitní adrenalitida","Klasická Addisonova choroba","Primární Addisonova choroba"]},"uk":{"name":"Хвороба Аддісона","synonyms":["Аутоімунна хвороба Аддісона","Аутоімунний адреналіт","Класична хвороба Аддісона","Первинна хвороба Аддісона"],"definition":"A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI)."},"zh":{"name":"艾迪生病","synonyms":["自身免疫性Addison病"]},"tr":{"name":"Addison hastalığı","synonyms":["Otoimmün adrenalit","Klasik Addison hastalığı","Primer Addison hastalığı","Otoimmün Addison hastalığı"]}},"xrefs":[{"source":"OMIM","code":"103230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"240200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E27.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A74.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1920929898"},{"source":"MONDO","code":"0100480","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100480","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000224","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001403","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5740","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001130","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":54.0,"area":"Specific population","status":"Validated","source":"12788587[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.5,"area":"Europe","status":"Validated","source":"21164269[PMID]_12788587[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Norway","status":"Validated","source":"12072049[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.3,"area":"United Kingdom","status":"Validated","source":"919670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-01-28","source":"41587556[PMID]_32063488[PMID]_28723023[PMID]_20400889[PMID]_24695602[PMID]_25295623[PMID]_20399314[PMID]_15654180[PMID]_24613067[PMID]_23697517[PMID]_18000094[PMID]_16968806[PMID]_19574315[PMID]_15950720[PMID]_8614434[PMID]_11443143[PMID]","terms":[{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100134","label":"Abnormality of the axillary hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100133","label":"Abnormality of the pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008226","label":"Androgen insufficiency","frequency":"Frequent (79-30%)","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:0034061","label":"Anti-steroid 17alpha-hydroxylase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031214","label":"Decreased circulating dehydroepiandrosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012364","label":"Decreased urinary potassium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005976","label":"Hyperkalemic metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033834","label":"Malaise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007505","label":"Progressive hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010512","label":"Adrenal calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0046504","label":"Decreased libido","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006462","label":"Generalized bone demineralization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030083","label":"Salt craving","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008720","label":"Primary testicular failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004860","label":"Thiamine-responsive megaloblastic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100522","label":"Thymoma","frequency":"Very rare (<4-1%)","criteria":null}]}}