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ORPHA:96253

Cushing disease

medium confidenceDisorder

Also known as: Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma · Pituitary-dependent Cushing syndrome

Publications

9,944

97th percentile

Trials

39

Interventional, condition-specific

Researchers

1,086

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 chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma.

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 (11)

ACTH producing pituitary adenoma · Cushing disease, pituitary · Cushing's disease · PITA4 · corticotroph pituitary adenoma · pituitary adenoma 4, ACTH-secreting · pituitary adenoma 4, ACTH-secreting, somatic · pituitary adenoma, ACTH-secreting · pituitary corticotroph micro-adenoma · pituitary dependent Cushing syndrome · pituitary-dependent 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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    9,944 matched papers (3,948 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    39 matched on ClinicalTrials.gov (8 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?

9,944

9,944 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.

9,944 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).

3,948 in the last 10 years · medium confidence · 97th percentile (publications denominator)

Phrase hits: 9,936 · MeSH hits: 17

Open Europe PMC search

Who's working on it?

1,086

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
    Fleseriu M8 papers · 2026

    Pituitary Center, Departments of Medicine and Neurological Surgery, Oregon Health & Science University, Portland, OR 97239, United States.

    Papers in Europe PMC
  2. 02
    Agrawal N6 papers · 2026

    Department of Endocrinology, NYU School of Medicine, New York 10016, United States.

    Papers in Europe PMC
  3. 03
    Feelders RA6 papers · 2026

    Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands; Holman Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, New York University Langone Medical Center, New York, USA. Electronic address: R.Feelders@erasmusmc.nl.

    Papers in Europe PMC
  4. 04
    Zhang Y6 papers · 2026

    Department of Neurosurgery, the First Medical Center of Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  5. 05
    Akirov A5 papers · 2026

    Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel.

    Papers in Europe PMC
  6. 06
    Honegger J5 papers · 2026

    Department of Neurosurgery, University Hospital Tuebingen, Eberhard-Karls-University Tuebingen, Germany.

    Papers in Europe PMC
  7. 07
    Kushnir S5 papers · 2026

    Research Authority, Rabin Medical Center, Beilinson Hospital, Petach Tikva 4941492, Israel.

    Papers in Europe PMC
  8. 08
    Newell-Price J5 papers · 2026

    The School of Medicine and Population Health, University of Sheffield, Sheffield, S10 2RX, United Kingdom.

    Papers in Europe PMC
  9. 09
    Rudman Y5 papers · 2026

    Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel.

    Papers in Europe PMC
  10. 10
    Shochat T5 papers · 2026

    Biostatistics Unit, Rabin Medical Center, Beilinson Hospital, Petah Tikva 4941492, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

39

interventional trials for this specific condition

39 interventional trials matched this specific condition name; 8 currently recruiting in our sample.

Data as of 27 July 2026

39 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.5th percentile).

medium confidence · 96.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

16 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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 disease" OR "Corticotroph pituitary adenoma" OR "Pituitary corticotroph micro-adenoma" OR "Pituitary-dependent Cushing syndrome" OR "ACTH producing pituitary adenoma" OR "Cushing disease, pituitary" OR "Cushing's disease" OR "PITA4" OR "pituitary adenoma 4, ACTH-secreting" OR "pituitary adenoma 4, ACTH-secreting, somatic" OR "pituitary adenoma, ACTH-secreting" OR "pituitary dependent Cushing syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: ACTH-Secreting Pituitary Adenoma

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

"Cushing disease" OR "Corticotroph pituitary adenoma" OR "Pituitary corticotroph micro-adenoma" OR "Pituitary-dependent Cushing syndrome" OR "ACTH producing pituitary adenoma" OR "Cushing disease, pituitary" OR "Cushing's disease" OR "PITA4" OR "pituitary adenoma 4, ACTH-secreting" OR "pituitary adenoma 4, ACTH-secreting, somatic" OR "pituitary adenoma, ACTH-secreting" OR "pituitary dependent Cushing syndrome" OR "ACTH-Secreting Pituitary Adenoma"

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

Study-type breakdown: 39 interventional · 16 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-27T05:00:14.855Z