ORPHA:227982

Autoimmune polyendocrinopathy type 3

Synonyms: APS type 3 · APS3 · Autoimmune polyendocrine syndrome type 3 · Autoimmune polyglandular syndrome type 3

Type: Disease
Group: Disorder
Inheritance: Multigenic/multifactorial
Age of onset: All ages
Status: active

A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autoimmune polyendocrinopathy type 3	APS type 3 · APS3 · Autoimmune polyendocrine syndrome type 3 · Autoimmune polyglandular syndrome type 3
fr	Polyendocrinopathie auto-immune type 3	APS type 3 · APS3 · Syndrome polyglandulaire auto-immun type 3
de	Autoimmun-Polyendokrinopathie Typ 3	APS Typ 3 · APS-3 · Autoimmun-polyglanduläres Syndrom Typ 3
es	Poliendocrinopatía autoinmune tipo 3	APS tipo 3 · APS3 · SAP tipo 3
it	Poliendocrinopatia autoimmune, tipo 3	APS, tipo 3 · APS3 · Sindrome poliendocrina autoimmune, tipo 3 · Sindrome polighiandolare autoimmune, tipo 3
nl	Auto-immune polyendocrinopathie type 3	APS type 3 · APS3 · Auto-immuun polyendocrien syndroom type 3 · Auto-immuun polyglandulair syndroom type 3
pt	Poliendocrinopatia autoimune tipo 3
pl	Poliendokrynopatia autoimmunologiczna typu 3	APS type 3 · APS3 · Autoimmunologiczny zespół wielogruczołowy typu 3 · Autoimmunologiczny zespół niedoczynności wielogruczołowej typu 3
cs	Autoimunitní polyendokrinní syndrom, typ 3	APS typ 3 · APS3 · Autoimunitní polyglandulární syndrom, typ 3
uk	Аутоімунна поліендокринопатія, тип 3	APS тип 3 · APS3 · Аутоімунний поліендокринний синдром типу 3 · Аутоімунний полігландулярний синдром типу 3
zh	自身免疫性多内分泌病3型	自身免疫性多腺体综合征3型
tr	Otoimmün poliendokrinopati tip 3	APS3 · APS tip 3 · Otoimmün poliendokrin sendrom tip 3 · Otoimmün poliglandüler sendrom tip 3

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	0016422	E		validated
UMLS	C1535942	E		validated
GARD	10980	E		validated
MedDRA	10064115	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):

ORPHA:97978Rare endocrine disease

Parents in the classifications (3):

ORPHA:282196Autoimmune polyendocrinopathy
rare endocrine diseases
ORPHA:177101Rare adult hypothyroidism
rare endocrine diseases
ORPHA:181371Rare diabetes mellitus type 1
rare endocrine diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

33 annotations · validated 2017-03-13

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:0100647	Graves disease	Diagnostic criterion
HP:0000872	Hashimoto thyroiditis	Diagnostic criterion
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:0011771	Autoimmune hypoparathyroidism
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: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]_22278434[PMID]_2218600[PMID]_7934446[PMID]_4053951[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/227982
This record as JSON: /data/d/227982.json