ORPHA:139411
Carney triad
Publications
541
Trials
0
Interventional, condition-specific
Researchers
1,125
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare non- condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011424
- MeSH:C565803
- OMIM:604287
- UMLS:C1858592
- NCIT:C94833
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
541 matched papers (306 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
541
541 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.
541 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).
306 in the last 10 years · low confidence
Phrase hits: 541 · MeSH hits: 13
Who's working on it?
1,125
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Stratakis CA13 papers · 2025
Section on Endocrinology and Genetics (SEGEN)Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USADepartment of Biophysics and Nuclear MedicineUniversity Hospitals of Strasbourg, Strasbourg, FranceFaculty of MedicineIcube UMR 7357 University of Strasbourg/CNRS and FMTS, Strasbourg, FranceLaboratory of PathologyNational Cancer Institute (NCI), NIH, Bethesda, Maryland 20892, USASection on Medical Neuroendocrinology (SMN)Program on Reproductive and Adult Endocrinology (PRAE), NICHD, NIH, Bethesda, Maryland 20892, USASection of Immunopathology and Laboratory of ImmunologyNational Eye Institute, U.S. National Institutes of Health, Bethesda, Maryland 20892, USADepartment of Nuclear MedicineLa Timone University Hospital, CERIMED, 264, Rue Saint-Pierre, 13385 Marseille Cedex 5, FranceInstitut Paoli-CalmettesInserm UMR1068 Marseille Cancerology Research Center, Marseille, FranceEmeritus Staff CenterMayo Clinic Rochester, 200 First Street Southwest, Rochester, Minnesota 55905, USA stratakc@mail.nih.gov.
Papers in Europe PMC - 02Carney JA7 papers · 2025
Department of Laboratory Medicine and Pathology, Division of Endocrinology, Diabetes, Metabolism and Nutrition, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA. carney.aidan@mayo.edu
Papers in Europe PMC - 03Pacak K7 papers · 2022
Section on Endocrinology and Genetics (SEGEN)Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USADepartment of Biophysics and Nuclear MedicineUniversity Hospitals of Strasbourg, Strasbourg, FranceFaculty of MedicineIcube UMR 7357 University of Strasbourg/CNRS and FMTS, Strasbourg, FranceLaboratory of PathologyNational Cancer Institute (NCI), NIH, Bethesda, Maryland 20892, USASection on Medical Neuroendocrinology (SMN)Program on Reproductive and Adult Endocrinology (PRAE), NICHD, NIH, Bethesda, Maryland 20892, USASection of Immunopathology and Laboratory of ImmunologyNational Eye Institute, U.S. National Institutes of Health, Bethesda, Maryland 20892, USADepartment of Nuclear MedicineLa Timone University Hospital, CERIMED, 264, Rue Saint-Pierre, 13385 Marseille Cedex 5, FranceInstitut Paoli-CalmettesInserm UMR1068 Marseille Cancerology Research Center, Marseille, FranceEmeritus Staff CenterMayo Clinic Rochester, 200 First Street Southwest, Rochester, Minnesota 55905, USA.
Papers in Europe PMC - 04Faucz FR6 papers · 2025
Section on Endocrinology and Genetics (SEGEN)Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USADepartment of Biophysics and Nuclear MedicineUniversity Hospitals of Strasbourg, Strasbourg, FranceFaculty of MedicineIcube UMR 7357 University of Strasbourg/CNRS and FMTS, Strasbourg, FranceLaboratory of PathologyNational Cancer Institute (NCI), NIH, Bethesda, Maryland 20892, USASection on Medical Neuroendocrinology (SMN)Program on Reproductive and Adult Endocrinology (PRAE), NICHD, NIH, Bethesda, Maryland 20892, USASection of Immunopathology and Laboratory of ImmunologyNational Eye Institute, U.S. National Institutes of Health, Bethesda, Maryland 20892, USADepartment of Nuclear MedicineLa Timone University Hospital, CERIMED, 264, Rue Saint-Pierre, 13385 Marseille Cedex 5, FranceInstitut Paoli-CalmettesInserm UMR1068 Marseille Cancerology Research Center, Marseille, FranceEmeritus Staff CenterMayo Clinic Rochester, 200 First Street Southwest, Rochester, Minnesota 55905, USA.
Papers in Europe PMC - 05Boikos SA5 papers · 2019
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland2now with Sarcoma and Rare Tumors Program, Division of Hematology, Oncology, and Palliative Care, Massey Cancer Center, Virginia Commonwealth University, R.
Papers in Europe PMC - 06Almeida MQ3 papers · 2025
Unidade de Adrenal, Laboratório de Endocrinologia Molecular e Celular LIM/25, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo 01246-903, Brasil.
Papers in Europe PMC - 07
- 08Helman LJ3 papers · 2016
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.
Papers in Europe PMC - 09Hornick JL3 papers · 2018
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 10Imperiale A3 papers · 2021
Section on Endocrinology and Genetics (SEGEN)Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USADepartment of Biophysics and Nuclear MedicineUniversity Hospitals of Strasbourg, Strasbourg, FranceFaculty of MedicineIcube UMR 7357 University of Strasbourg/CNRS and FMTS, Strasbourg, FranceLaboratory of PathologyNational Cancer Institute (NCI), NIH, Bethesda, Maryland 20892, USASection on Medical Neuroendocrinology (SMN)Program on Reproductive and Adult Endocrinology (PRAE), NICHD, NIH, Bethesda, Maryland 20892, USASection of Immunopathology and Laboratory of ImmunologyNational Eye Institute, U.S. National Institutes of Health, Bethesda, Maryland 20892, USADepartment of Nuclear MedicineLa Timone University Hospital, CERIMED, 264, Rue Saint-Pierre, 13385 Marseille Cedex 5, FranceInstitut Paoli-CalmettesInserm UMR1068 Marseille Cancerology Research Center, Marseille, FranceEmeritus Staff CenterMayo Clinic Rochester, 200 First Street Southwest, Rochester, Minnesota 55905, USA Section on Endocrinology and Genetics (SEGEN)Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USADepartment of Biophysics and Nuclear MedicineUniversity Hospitals of Strasbourg, Strasbourg, FranceFaculty of MedicineIcube UMR 7357 University of Strasbourg/CNRS and FMTS, Strasbourg, FranceLaboratory of PathologyNational Cancer Institute (NCI), NIH, Bethesda, Maryland 20892, USASection on Medical Neuroendocrinology (SMN)Program on Reproductive and Adult Endocrinology (PRAE), NICHD, NIH, Bethesda, Maryland 20892, USASection of Immunopathology and Laboratory of Immunolo
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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
- NCT06523582·RECRUITING·Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Conditions: Neuroendocrine Neoplasm · Neuroendocrine Neoplasm of Gastrointestinal Tract · Neuroendocrine Neoplasm of Lung · Thymic Neuroendocrine Neoplasm·Matched via name + MeSH
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.
"Carney triad"
MeSH descriptor terms unioned into the query: Carney Triad
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Carney triad"
Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (541) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:34:41.619Z