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ORPHA:99889

Cushing syndrome due to ectopic ACTH secretion

high confidenceDisorder

Also known as: Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor · Ectopic Cushing syndrome · Occult ectopic ACTH secretion · Paraneoplastic Cushing syndrome

Publications

465

78th percentile

Trials

2

Interventional, condition-specific

Researchers

998

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by the secretion of ACTH by non-pituitary neuroendocrine tumors (NETs) of various locations and various degrees of histological differentiation and aggressiveness.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

adrenocorticotropic hormone secretion syndrome · ectopic ACTH secreting tumor · ectopic ACTH secreting tumour · ectopic Cushing syndrome · occult ectopic ACTH secretion · paraneoplastic Cushing 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.”

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

    465 matched papers (335 in last 10 years) Source

  3. Phenotype characterisedPresent

    83 HPO annotations (e.g. Increased circulating ACTH level; Paradoxical increased cortisol secretion on dexamethasone suppression test; Striae distensae) 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

    2 matched on ClinicalTrials.gov (1 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)

83

Associated phenotypes · MONDO:0020527

  • Increased circulating ACTH level
  • Paradoxical increased cortisol secretion on dexamethasone suppression test
  • Striae distensae
  • Abnormality of the cardiovascular system
  • Truncal obesity

Showing 5 of 83 — 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?

465

465 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=3967) is 59.

465 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).

335 in the last 10 years · high confidence · 78th percentile (publications denominator)

Phrase hits: 465 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

998

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
    Bhadada SK4 papers · 2025

    Department of Endocrinology, PGIMER, Chandigarh, India.

    Papers in Europe PMC
  2. 02
    Hubalewska-Dydejczyk A4 papers · 2026

    Department of Endocrinology, Jagiellonian University Medical College, Kraków, Poland

    Papers in Europe PMC
  3. 03
    Kasajima A4 papers · 2026

    Department of Pathology, TUM School of Medicine and Health, Technical University Munich, Trogerstr. 18, 81675, Munich, Germany. atsuko.kasajima@tum.de.

    Papers in Europe PMC
  4. 04
    Klöppel G4 papers · 2026

    Department of Pathology, TUM School of Medicine and Health, Technical University Munich, Trogerstr. 18, 81675, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Agaimy A3 papers · 2026

    Institute of Pathology, University Hospital Erlangen, Friedrich Alexander University of Erlangen-Nuremberg & Comprehensive Cancer Center, European Metropolitan Area Erlangen-Nuremberg (CCC ER-EMN), Erlangen, Germany. abbas.agaimy@uk-erlangen.de.

    Papers in Europe PMC
  6. 06
    Araujo-Castro M3 papers · 2026

    Endocrinology & Nutrition Department, Ramón y Cajal Hospital, 28034 Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Bancos I3 papers · 2025

    Mayo Clinic , Rochester, MN ,

    Papers in Europe PMC
  8. 08
    Cheng X3 papers · 2021

    Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  9. 09
    Hou G3 papers · 2021

    Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  10. 10
    Jiang Y3 papers · 2021

    Department of Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Cushing syndrome due to ectopic ACTH secretion — 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.

"Cushing syndrome due to ectopic ACTH secretion" OR "Adrenocorticotropic hormone secretion syndrome" OR "Ectopic ACTH secreting tumor" OR "Ectopic Cushing syndrome" OR "Occult ectopic ACTH secretion" OR "Paraneoplastic Cushing syndrome" OR "ectopic ACTH secreting tumour"

Run this search on Europe PMC

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

"Cushing syndrome due to ectopic ACTH secretion" OR "Adrenocorticotropic hormone secretion syndrome" OR "Ectopic ACTH secreting tumor" OR "Ectopic Cushing syndrome" OR "Occult ectopic ACTH secretion" OR "Paraneoplastic Cushing syndrome" OR "ectopic ACTH secreting tumour"

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: 2 interventional · 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T06:30:31.104Z