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ORPHA:3453

Autoimmune polyendocrinopathy type 1

medium confidenceDisorder

Also known as: APECED syndrome · APS type 1 · APS1 · Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome · Autoimmune polyendocrine syndrome type 1 · Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome · Autoimmune polyglandular syndrome type 1 · HAM syndrome · Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome · MEDAC syndrome · Multiple endocrine deficiency-Addison disease-candidiasis syndrome

Publications

12,961

95.6th percentile

Trials

4

Interventional, condition-specific

Researchers

1,170

Distinct authors in sample

Gene link

AIRE

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (16)

AIRE autoimmune polyendocrinopathy · Autoimmune Polyglandular Syndrome Type 1 · Whitaker syndrom · aire autoimmune polyendocrinopathy · autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome · autoimmune polyendocrine syndrome type 1 · autoimmune polyendocrinopathy caused by mutation in AIRE · autoimmune polyendocrinopathy caused by mutation in aire · autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia · autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy · autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome · autoimmune polyglandular syndrome type 1 · ham syndrome · hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome · multiple endocrine deficiency-Addison disease-candidiasis syndrome · polyglandular autoimmune syndrome type 1

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — AIRE

  2. LiteraturePresent

    12,961 matched papers (6,295 in last 10 years) Source

  3. Phenotype characterisedPresent

    111 HPO annotations (e.g. Hyperpigmentation of the skin; Opacification of the corneal stroma; Premature ovarian insufficiency) Source

  4. Animal modelPresent

    9 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (2 recruiting in sample)

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?

Yes — we know a specific gene responsible (AIRE).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

111

Associated phenotypes · MONDO:0009411

  • Hyperpigmentation of the skin
  • Opacification of the corneal stroma
  • Premature ovarian insufficiency
  • Anti-side-chain cleavage enzyme antibody positivity
  • Anti-21-hydroxylase antibody positivity

Showing 5 of 111 — open Monarch for the full list.

Animal models (Monarch / Alliance)

9

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009411

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

12,961

12,961 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,961 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

6,295 in the last 10 years · medium confidence · 95.6th percentile (publications denominator)

Phrase hits: 2,283 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,170

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Lionakis MS26 papers · 2026

    Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  2. 02
    Laakso S11 papers · 2026

    Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Stenbäckinkatu 9, Helsinki, Finland. saila.laakso@helsinki.fi.

    Papers in Europe PMC
  3. 03
    Ferré EMN10 papers · 2024

    Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  4. 04
    Mäkitie O10 papers · 2026

    Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Stenbäckinkatu 9, Helsinki, Finland.

    Papers in Europe PMC
  5. 05
    Schmitt MM8 papers · 2026

    Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  6. 06
    Oftedal BE7 papers · 2026

    Department of Clinical Science, Department of Medicine, University of Bergen, Bergen, Norway.

    Papers in Europe PMC
  7. 07
    Betterle C6 papers · 2026

    Endocrine Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.

    Papers in Europe PMC
  8. 08
    Husebye ES6 papers · 2026

    Department of Clinical Science, Department of Medicine, University of Bergen, Bergen, Norway.

    Papers in Europe PMC
  9. 09
    Pechacek J6 papers · 2026

    Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

    Papers in Europe PMC
  10. 10
    Wolff ASB6 papers · 2026

    Department of Clinical Science, Department of Medicine, University of Bergen, Bergen, Norway.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: autoimmune polyendocrinopathy

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (11)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autoimmune polyendocrinopathy type 1 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 1" OR "APECED syndrome" OR "APS type 1" OR "Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome" OR "Autoimmune polyendocrine syndrome type 1" OR "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" OR "Autoimmune polyglandular syndrome type 1" OR "HAM syndrome" OR "Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome" OR "MEDAC syndrome" OR "Multiple endocrine deficiency-Addison disease-candidiasis syndrome" OR "AIRE autoimmune polyendocrinopathy" OR "Whitaker syndrom" OR "autoimmune polyendocrinopathy caused by mutation in AIRE" OR "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" OR "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" OR "polyglandular autoimmune syndrome type 1") OR ("AIRE" OR "AIRE syndrome" OR "AIRE-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autoimmune polyendocrinopathy type 1" OR "APECED syndrome" OR "APS type 1" OR "Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome" OR "Autoimmune polyendocrine syndrome type 1" OR "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" OR "Autoimmune polyglandular syndrome type 1" OR "HAM syndrome" OR "Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome" OR "MEDAC syndrome" OR "Multiple endocrine deficiency-Addison disease-candidiasis syndrome" OR "AIRE autoimmune polyendocrinopathy" OR "Whitaker syndrom" OR "autoimmune polyendocrinopathy caused by mutation in AIRE" OR "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" OR "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" OR "polyglandular autoimmune syndrome type 1"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"autoimmune polyendocrinopathy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: APS1

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 2026-07-26T23:13:55.186Z