ORPHA:99889
Cushing syndrome due to ectopic ACTH secretion
Also known as: Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor · Ectopic Cushing syndrome · Occult ectopic ACTH secretion · Paraneoplastic Cushing syndrome
Publications
465
86.2th percentile
Trials
2
Interventional, condition-specific
Researchers
998
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
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.”
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
465 matched papers (335 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
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)
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?
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=5449) is 41.
465 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).
335 in the last 10 years · high confidence · 86.2th percentile (publications denominator)
Phrase hits: 465 · MeSH hits: 0
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.
- 01Bhadada SK4 papers · 2025
Department of Endocrinology, PGIMER, Chandigarh, India.
Papers in Europe PMC - 02Hubalewska-Dydejczyk A4 papers · 2026
Department of Endocrinology, Jagiellonian University Medical College, Kraków, Poland
Papers in Europe PMC - 03Kasajima 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 - 04Klöppel G4 papers · 2026
Department of Pathology, TUM School of Medicine and Health, Technical University Munich, Trogerstr. 18, 81675, Munich, Germany.
Papers in Europe PMC - 05Agaimy 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 - 06Araujo-Castro M3 papers · 2026
Endocrinology & Nutrition Department, Ramón y Cajal Hospital, 28034 Madrid, Spain.
Papers in Europe PMC - 07
- 08Cheng 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 - 09Hou 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 - 10Jiang 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 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th 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.
- NCT02019706·RECRUITING·Prospective Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Ectopic Cushing Syndrome
Conditions: ACTH · Cushing's Syndrome·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.
"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"
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