Autoimmune polyendocrinopathy type 4
Synonyms: APS type 4 · APS4 · Autoimmune polyendocrine syndrome type 4 · Autoimmune polyglandular syndrome type 4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune polyendocrinopathy type 4 | APS type 4 · APS4 · Autoimmune polyendocrine syndrome type 4 · Autoimmune polyglandular syndrome type 4 |
| fr | Polyendocrinopathie auto-immune type 4 | APS type 4 · APS4 |
| de | Autoimmun-Polyendokrinopathie Typ 4 | APS Typ 4 · APS-4 · Autoimmun-polyglanduläres Syndrom Typ 4 |
| es | Poliendocrinopatía autoinmune tipo 4 | APS4 · APS tipo 4 |
| it | Poliendocrinopatia autoimmune tipo 4 | APS, tipo 4 · APS4 · Sindrome poliendocrina autoimmune, tipo 4 · Sindrome polighiandolare autoimmune, tipo 4 |
| nl | Auto-immune polyendocrinopathie type 4 | APS type 4 · APS4 · Auto-immuun polyendocrien syndroom type 4 · Auto-immuun polyglandulair syndroom type 4 |
| pt | Poliendocrinopatia autoimune tipo 4 | APS tipo 4 · APS4 |
| pl | Poliendokrynopatia autoimmunologiczna 4 | APS type 4 · APS4 · Autoimmunologiczny zespół wielogruczołowy typu 4 · Autoimmunologiczny zespół niedoczynności wielogruczołowej typu 4 |
| cs | Autoimunitní polyendokrinní syndrom, typ 4 | APS typ 4 · APS4 · Autoimunitní polyglandulární syndrom, typ 4 |
| uk | Аутоімунна поліендокринопатія, тип 4 | APS тип 4 · APS4 · Автоімунний поліендокринний синдром 4 типу · Аутоімунний полігландулярний синдром типу 4 |
| zh | 自身免疫性多内分泌病4型 | 自身免疫性多腺体综合征4型 |
| tr | Otoimmün poliendokrinopati tip 4 | APS4 · APS tip 4 · Otoimmün poliendokrin sendrom tip 4 · Otoimmün poliglandüler sendrom tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E31.0 | NTBT | attributed | validated |
| ICD-11 | 5B00 | NTBT | index | validated |
| MONDO | 0016423 | E | validated | |
| UMLS | C3266026 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:282196Autoimmune polyendocrinopathy
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
32 annotations · validated 2017-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002960 | Autoimmunity | |
| Frequent (79-30%) | ||
| HP:0002582 | Atrophic gastritis | Diagnostic criterion |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0002608 | Celiac disease | |
| HP:0001972 | Macrocytic anemia | |
| HP:0100651 | Type I diabetes mellitus | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | Diagnostic criterion |
| HP:0010625 | Anterior pituitary dysgenesis | |
| HP:0002613 | Biliary cirrhosis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0001882 | Leukopenia | |
| HP:0001045 | Vitiligo | Diagnostic criterion |
| Very rare (<4-1%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0010451 | Aplasia/Hypoplasia of the spleen | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0000863 | Central diabetes insipidus | |
| HP:0012115 | Hepatitis | |
| HP:0000815 | Hypergonadotropic hypogonadism | Diagnostic criterion |
| HP:0001094 | Iridocyclitis | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0012220 | Non-caseating epithelioid cell granulomatosis | |
| HP:0000938 | Osteopenia | |
| HP:0001370 | Rheumatoid arthritis | |
| HP:0100522 | Thymoma | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0000217 | Xerostomia | |
| Excluded (0%) | ||
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0100647 | Graves disease | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0008207 | Primary adrenal insufficiency | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 19411300[PMID]_19322903[PMID]_26000153[PMID]_19645063[PMID]_20233565[PMID]_17880463[PMID]_16946565[PMID]_15597731[PMID]_8616531[PMID]_12843130[PMID]_15625773[PMID]_2218600[PMID]_7934446[PMID]_4053951[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/227990
- This record as JSON: /data/d/227990.json