ORPHA:3143
Autoimmune polyendocrinopathy type 2
Also known as: 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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
511
85.5th percentile
Trials
0
Interventional, condition-specific
Researchers
976
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010012
- OMIM:269200
- UMLS:C0085860
- NCIT:C129728
Additional Mondo synonyms (4)
Autoimmune Polyendocrine Syndrome Type II · autoimmune polyendocrine syndrome type 2 · autoimmune polyglandular syndrome type 2 · autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
511 matched papers (314 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 2 for broader category autoimmune polyendocrinopathy
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
511
511 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
511 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
314 in the last 10 years · medium confidence · 85.5th percentile (publications denominator)
Phrase hits: 511 · MeSH hits: 0
Who's working on it?
976
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Husebye ES4 papers · 2026
From the Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen (E.S.H., O.K.), and the Department of Medicine, Haukeland University Hospital (E.S.H.), Bergen, Norway; the Department of Medicine (Solna), Karolinska Institutet, Stockholm (E.S.H., O.K.); and the Diabetes Center and the Department of Medicine, University of California, San Francisco, San Francisco (M.S.A.).
Papers in Europe PMC - 02Oftedal BE3 papers · 2026
Institute of Genetic Medicine (A.P., C.M.N., H.F.A., H.J.C., S.H.S.P., A.L.M.), Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom; Department of Clinical Science (B.E.O., E.S.H.), University of Bergen, 5021 Bergen, Norway; and Department of Medicine (E.S.H.), Haukeland University Hospital, 5021 Bergen, Norway.
Papers in Europe PMC - 03Wolff ASB3 papers · 2026
Department of Medicine, Haukeland University Hospital, 5021 Bergen, Norway.
Papers in Europe PMC - 04Ali A2 papers · 2025
Internal Medicine, Khyber Medical College Peshawar, Peshawar, PAK.
Papers in Europe PMC - 05Allen-Brady K2 papers · 2025
Division of Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT 84108, USA.
Papers in Europe PMC - 06Anderson MS2 papers · 2025
From the Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen (E.S.H., O.K.), and the Department of Medicine, Haukeland University Hospital (E.S.H.), Bergen, Norway; the Department of Medicine (Solna), Karolinska Institutet, Stockholm (E.S.H., O.K.); and the Diabetes Center and the Department of Medicine, University of California, San Francisco, San Francisco (M.S.A.).
Papers in Europe PMC - 07Ayaki M2 papers · 2021
Division of Endoscopy and Ultrasonography, Department of Clinical Pathology and Laboratory Medicine, Kawasaki Medical School, Japan.
Papers in Europe PMC - 08Badenhoop K2 papers · 2020
Department of Internal Medicine I, Division of Endocrinology, Diabetes and Metabolism, University Hospital Frankfurt, Frankfurt, Germany.
Papers in Europe PMC - 09Bensing S2 papers · 2026
Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.
Papers in Europe PMC - 10Betterle C2 papers · 2025
Department of Medical and Surgical Sciences, Unit of Endocrinology, University of Padova, Padova Hospital, Padova, Italy. corrado.betterle@unipd.it
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 2 trials are registered for autoimmune polyendocrinopathy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
2 interventional trials matched autoimmune polyendocrinopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autoimmune polyendocrinopathy
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05398809·RECRUITING·Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata
Conditions: Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced) · Alopecia Areata·Matched via name phrase
- NCT07202598·RECRUITING·Randomized Stepped Wedge Study of Emapalumab in APECED Enteritis
Conditions: Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Enteritis·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05578105·RECRUITING·Prevalence and Genetic Alternation of Autoimmune Polyglandular Syndrome Type II in Taiwan
Conditions: Autoimmune Polyendocrine Syndrome Type II·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Autoimmune polyendocrinopathy type 2" OR "APS type 2" OR "Autoimmune polyendocrine syndrome type 2" OR "Autoimmune polyglandular syndrome type 2" OR "Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome" OR "Schmidt syndrome" OR "Autoimmune Polyendocrine Syndrome Type II"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autoimmune polyendocrinopathy type 2" OR "APS type 2" OR "Autoimmune polyendocrine syndrome type 2" OR "Autoimmune polyglandular syndrome type 2" OR "Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome" OR "Schmidt syndrome" OR "Autoimmune Polyendocrine Syndrome Type II" OR "autoimmune disorder of endocrine system"
Recall-expansion terms: autoimmune disorder of endocrine system
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autoimmune polyendocrinopathy"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: APS2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:18:35.660Z