ORPHA:3453
Autoimmune polyendocrinopathy type 1
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
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune polyendocrinopathy type 1 | 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 |
| fr | Polyendocrinopathie auto-immune type 1 | 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 |
| de | Autoimmun-Polyendokrinopathie Typ 1 | 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 |
| es | Poliendocrinopatía autoinmune tipo 1 | 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 |
| it | Poliendocrinopatia autoimmune tipo 1 | 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 | Auto-immune polyendocrinopathie type 1 | 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 |
| pt | Poliendocrinopatia autoimune tipo 1 | 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 |
| pl | Autoimmunologiczny zespół niedoczynności wielogruczołowej typu 1 | 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 | Autoimunitní polyglandulární syndrom, typ 1 | 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 | Аутоімунна поліендокринопатія, тип 1 | 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 |
| zh | 自身免疫性多内分泌腺病1型 | 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 | Otoimmün poliendokrinopati tip 1 | 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 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 240300 | E | validated | |
| ICD-10 | E31.0 | NTBT | inclusion | validated |
| ICD-11 | 5B00 | NTBT | index | validated |
| MONDO | 0009411 | E | validated | |
| MeSH | C538275 | E | validated | |
| UMLS | C0085859 | E | validated | |
| GARD | 8466 | E | validated | |
| MedDRA | 10036072 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:282196Autoimmune polyendocrinopathy
rare endocrine diseases - ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases - ORPHA:208593Genetic hypoparathyroidism
rare genetic diseases - ORPHA:183643Genetic polyendocrinopathy
rare genetic diseases - ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:95709Rare acquired premature ovarian failure
rare genetic diseases; rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:399853Rare female infertility due to an anomaly of ovarian function
rare infertility disorders - ORPHA:181405Rare hypoparathyroidism
rare endocrine diseases - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AIRE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:360 | ENSG00000160224 | 607358 | 21q22.3 | autoimmune regulator | 22460196[PMID]_23342054[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Finland | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
38 annotations · validated 2025-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0008221 | Adrenal hyperplasia | |
| HP:0002960 | Autoimmunity | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0008207 | Primary adrenal insufficiency | |
| Frequent (79-30%) | ||
| HP:0034071 | Anti-21-hydroxylase antibody positivity | |
| HP:0034055 | Anti-side-chain cleavage enzyme antibody positivity | |
| HP:0000518 | Cataract | |
| HP:0100502 | Decreased circulating vitamin B12 concentration | |
| HP:0000968 | Ectodermal dysplasia | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001096 | Keratoconjunctivitis | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0000613 | Photophobia | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0100651 | Type I diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0001746 | Asplenia | |
| HP:0002582 | Atrophic gastritis | |
| HP:0012804 | Corneal ulceration | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0012115 | Hepatitis | |
| HP:0000135 | Hypogonadism | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0006515 | Interstitial pneumonitis | |
| HP:0002024 | Malabsorption | |
| HP:0008404 | Nail dystrophy | |
| HP:0000123 | Nephritis | |
| HP:0000648 | Optic atrophy | |
| HP:0008720 | Primary testicular failure | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000554 | Uveitis | |
| HP:0001045 | Vitiligo | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 25905251[PMID]_25905375[PMID]_30725896[PMID]_35690244[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3453
- This record as JSON: /data/d/3453.json