ORPHA:85138
Addison disease
Also known as: Autoimmune Addison disease · Autoimmune adrenalitis · Classic Addison disease · Primary Addison disease · Primary adrenal insufficiency
Publications
15,985
97.5th percentile
Trials
20
Interventional, condition-specific
Researchers
1,063
Distinct authors in sample
Gene link
—
Readiness
2/6
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).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0100480
- UMLS:C0271737
- NCIT:C113814
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
15,985 matched papers (4,739 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 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)
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?
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=5449) is 41.
15,985 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).
4,739 in the last 10 years · medium confidence · 97.5th percentile (publications denominator)
Phrase hits: 15,985 · MeSH hits: 0
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.
- 01Bensing 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 - 02Husebye ES8 papers · 2026
Department of Clinical Science, University of Bergen, Bergen, Norway.
Papers in Europe PMC - 03Kämpe O8 papers · 2025
Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Sweden.
Papers in Europe PMC - 04Fichna M5 papers · 2026
Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, Poznań, Poland.
Papers in Europe PMC - 05Skov J5 papers · 2026
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 171 77, Sweden.
Papers in Europe PMC - 06Betterle C4 papers · 2026
Department of Medicine (DIMED), University of Padua School of Medicine, Padua, Italy.
Papers in Europe PMC - 07Breivik L4 papers · 2026
Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
Papers in Europe PMC - 08Fletcher-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 - 09Jørgensen AP4 papers · 2026
Department of Endocrinology, Oslo University Hospital, 0372 Oslo, Norway.
Papers in Europe PMC - 10Wahlberg 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 27 July 2026
20 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.5th percentile).
medium confidence · 94.5th 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.
- NCT04252001·NOT YET RECRUITING·Growing up With the Young Endocrine Support System (YESS!)
Conditions: Congenital Adrenal Hyperplasia · Hypogonadotropic Hypogonadism · Growth Hormone Deficiency · Combined Pituitary Hormone Deficiency·Matched via name phrase
- NCT07413874·NOT YET RECRUITING·Telehealth Music Therapy for Adults With Endocrine Disorder and Depression
Conditions: Type 1 Diabetes · Hashimoto Disease · Graves Disease · Addison Disease·Matched via name phrase
- NCT07367425·NOT YET RECRUITING·Risks of Ramadan Fasting in Patients With Primary Adrenal Insufficiency Treated With Prednisolone.
Conditions: Primary Adrenal Insufficiency · Ramadan Fasting · Prednisolone · Continuous Glucose Monitoring·Matched via name phrase
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.
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"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"
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