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ORPHA:85138

Addison disease

medium confidenceDisorder

Also known as: Autoimmune Addison disease · Autoimmune adrenalitis · Classic Addison disease · Primary Addison disease · Primary adrenal insufficiency

Publications

15,985

94.5th percentile

Trials

20

Interventional, condition-specific

Researchers

1,063

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Addison's disease · autoimmune Addison disease · autoimmune Addison's disease · autoimmune adrenalitis · classic Addison's disease · primary Addison's disease

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.”

3/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    15,985 matched papers (4,739 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Thiamine-responsive megaloblastic anemia; Primary testicular failure; Thymoma) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    20 matched on ClinicalTrials.gov (3 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

56

Associated phenotypes · MONDO:0100480

  • Thiamine-responsive megaloblastic anemia
  • Primary testicular failure
  • Thymoma
  • Diarrhea
  • Nausea and vomiting

Showing 5 of 56 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

15,985

15,985 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.

15,985 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).

4,739 in the last 10 years · medium confidence · 94.5th percentile (publications denominator)

Phrase hits: 15,985 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,063

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
    Bensing S12 papers · 2026

    Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Endocrinology, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.

    Papers in Europe PMC
  2. 02
    Husebye ES8 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Kämpe O8 papers · 2025

    Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Sweden.

    Papers in Europe PMC
  4. 04
    Fichna M5 papers · 2026

    Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, Poznań, Poland.

    Papers in Europe PMC
  5. 05
    Skov J5 papers · 2026

    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 77, Sweden.

    Papers in Europe PMC
  6. 06
    Betterle C4 papers · 2026

    Department of Medicine (DIMED), University of Padua School of Medicine, Padua, Italy.

    Papers in Europe PMC
  7. 07
    Breivik L4 papers · 2026

    Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.

    Papers in Europe PMC
  8. 08
    Fletcher-Sandersjöö S4 papers · 2025

    Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Endocrinology, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.

    Papers in Europe PMC
  9. 09
    Jørgensen AP4 papers · 2026

    Department of Endocrinology, Oslo University Hospital, 0372 Oslo, Norway.

    Papers in Europe PMC
  10. 10
    Wahlberg J4 papers · 2025

    Department of Endocrinology and Department of Medical and Health Sciences, Linköpings University, SE-581 83 Linköping, Sweden; Department of Internal Medicine, School of Health and Medical Sciences, Örebro University, SE-702 81 Örebro, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

20 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

medium confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

7 observational studies match 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-30

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 (40)

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 Addison disease — 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.

"Addison disease" OR "Autoimmune Addison disease" OR "Autoimmune adrenalitis" OR "Classic Addison disease" OR "Primary Addison disease" OR "Primary adrenal insufficiency" OR "Addison's disease" OR "autoimmune Addison's disease" OR "classic Addison's disease" OR "primary Addison's disease"

Run this search on Europe PMC

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

"Addison disease" OR "Autoimmune Addison disease" OR "Autoimmune adrenalitis" OR "Classic Addison disease" OR "Primary Addison disease" OR "Primary adrenal insufficiency" OR "Addison's disease" OR "autoimmune Addison's disease" OR "classic Addison's disease" OR "primary Addison's disease"

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: 20 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:45:17.855Z