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ORPHA:1359

Carney complex

low confidenceDisorder

Also known as: Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

Publications

2,804

Trials

1

Interventional, condition-specific

Researchers

990

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

CNC · Carney's syndrome · LAMB · atrial myxoma with lentigines · lamb · lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome · nevi, atrial myxoma, skin myxoma, ephelides 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

    2,804 matched papers (1,575 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

    1 matched on ClinicalTrials.gov

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?

2,804

2,804 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,804 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).

1,575 in the last 10 years · low confidence

Phrase hits: 2,804 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

990

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
    Bertherat J6 papers · 2026

    Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.

    Papers in Europe PMC
  2. 02
    Stratakis CA4 papers · 2026

    Unit on Hypothalamic and Pituitary Disorders, Eunice Kennedy Shriver National Institute of Child Health, and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  3. 03
    Bouys L3 papers · 2025

    Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.

    Papers in Europe PMC
  4. 04
    Das A3 papers · 2025

    Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada.

    Papers in Europe PMC
  5. 05
    Pasmant E3 papers · 2025

    Department of Oncogenetics, Cochin Hospital, APHP, Paris 75014, France.

    Papers in Europe PMC
  6. 06
    Polak M3 papers · 2026

    Department of Paediatric Endocrinology, Diabetology and Gynecology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 149 Rue de Sèvres, 75015 Paris, France.

    Papers in Europe PMC
  7. 07
    Sibony M3 papers · 2025

    Department of Pathology, Cochin Hospital, APHP, Paris 75014, France.

    Papers in Europe PMC
  8. 08
    Violon F3 papers · 2025

    Genomics and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris 75005, France.

    Papers in Europe PMC
  9. 09
    Wang C3 papers · 2025

    Department of Cardiovascular Surgery, Guizhou Provincial People's Hospital, No. 52, Zhongshan East Road, Guiyang City, 550002, Guizhou Province, China.

    Papers in Europe PMC
  10. 10
    Wang H3 papers · 2026

    Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

4 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.

"Carney complex" OR "Carney syndrome" OR "Myxoma-spotty pigmentation-endocrine overactivity syndrome" OR "Carney's syndrome" OR "atrial myxoma with lentigines" OR "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome" OR "nevi, atrial myxoma, skin myxoma, ephelides syndrome"

Run this search on Europe PMC

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

"Carney complex" OR "Carney syndrome" OR "Myxoma-spotty pigmentation-endocrine overactivity syndrome" OR "Carney's syndrome" OR "atrial myxoma with lentigines" OR "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome" OR "nevi, atrial myxoma, skin myxoma, ephelides syndrome"

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: 1 interventional · 4 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

Synonyms dropped by stoplist: CNC; LAMB

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2804) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:10:01.255Z