ORPHA:227990
Autoimmune polyendocrinopathy type 4
Also known as: APS type 4 · APS4 · Autoimmune polyendocrine syndrome type 4 · Autoimmune polyglandular syndrome type 4
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
38
42.4th percentile
Trials
0
Interventional, condition-specific
Researchers
264
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016423
- UMLS:C3266026
Additional Mondo synonyms (2)
autoimmune polyendocrine syndrome type 4 · autoimmune polyglandular syndrome type 4
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
38 matched papers (28 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?
38
38 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
38 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).
28 in the last 10 years · medium confidence · 42.4th percentile (publications denominator)
Phrase hits: 38 · MeSH hits: 0
Who's working on it?
264
Distinct author names in 38 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.
- 01Bellastella G2 papers · 2026
Unit of Endocrinology and Metabolic Diseases, AOU University of Campania "Luigi Vanvitelli", Naples, Italy.
Papers in Europe PMC - 02Betterle C2 papers · 2023
Chair of Clinical Immunology and Allergy, Department of Medical and Surgical Sciences, University of Padova, I-35128, Padova, Italy. corrado.betterle@unipd.it
Papers in Europe PMC - 03Cappelli C2 papers · 2025
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Papers in Europe PMC - 04Franceschini F2 papers · 2025
Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
Papers in Europe PMC - 05Fredi M2 papers · 2025
Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
Papers in Europe PMC - 06Gatta E2 papers · 2025
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Papers in Europe PMC - 07Piovani E2 papers · 2025
Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
Papers in Europe PMC - 08Wang Y2 papers · 2024
Department of Rheumatology and Clinical Immunology, Peking University First Hospital, Beijing 100034, China.
Papers in Europe PMC - 09Abukhalaf SA1 paper · 2021
Al-Quds University Faculty of Medicine, Jerusalem, Palestine.
Papers in Europe PMC - 10Abuzneid YS1 paper · 2021
Al-Quds University Faculty of Medicine, Jerusalem, Palestine.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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
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 4" OR "APS type 4" OR "Autoimmune polyendocrine syndrome type 4" OR "Autoimmune polyglandular syndrome type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autoimmune polyendocrinopathy type 4" OR "APS type 4" OR "Autoimmune polyendocrine syndrome type 4" OR "Autoimmune polyglandular syndrome type 4" OR "autoimmune disorder of endocrine system"
Recall-expansion terms: autoimmune disorder of endocrine system
Study-type breakdown: 0 interventional · 0 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: APS4
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 2026-07-27T10:00:32.810Z