ORPHA:3143
Autoimmune polyendocrinopathy type 2
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
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune polyendocrinopathy type 2 | 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 |
| fr | Polyendocrinopathie auto-immune type 2 | 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 |
| de | Autoimmun-Polyendokrinopathie Typ 2 | APS Typ 2 · APS-2 · Autoimmun-polyglanduläres Syndrom Typ 2 · Autoimmune Schilddrüsenkrankheit und/oder Typ 1 Diabetes - Addison-Krankheit · Schmidt-Syndrom |
| es | Poliendocrinopatía autoinmune tipo 2 | 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 |
| it | Poliendocrinopatia autoimmune, tipo 2 | 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 |
| nl | Auto-immune polyendocrinopathie type 2 | 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 |
| pt | Poliendocrinopatia auto-imune tipo 2 | APS tipo 2 · APS2 · Síndrome Schmidt · Síndrome de poliendocrinopatia auto-imune tipo 2 · Síndrome poliglandular auto-imune tipo 2 |
| pl | Poliendokrynopatia autoimmunologiczna typu 2 | 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 |
| cs | Autoimunitní polyendokrinopatie, typ 2 | 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 | Аутоімунна поліендокринопатія, тип 2 | 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 |
| zh | 自身免疫性多内分泌腺病2型 | 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 | Otoimmün poliendokrinopati tip 2 | 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 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269200 | E | validated | |
| ICD-10 | E31.0 | NTBT | specific | validated |
| ICD-11 | 5B00 | NTBT | index | validated |
| MONDO | 0010012 | E | validated | |
| UMLS | C0085860 | E | validated | |
| GARD | 7611 | E | validated | |
| MedDRA | 10036073 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:101963Acquired chronic primary adrenal insufficiency
rare endocrine diseases - ORPHA:282196Autoimmune polyendocrinopathy
rare endocrine 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
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0002608 | Celiac disease | |
| HP:0100647 | Graves disease | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0100651 | Type I diabetes mellitus | |
| Frequent (79-30%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0001596 | Alopecia | |
| HP:0034061 | Anti-steroid 17alpha-hydroxylase antibody positivity | |
| HP:0000135 | Hypogonadism | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001053 | Hypopigmented skin patches | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3143
- This record as JSON: /data/d/3143.json