ORPHA:97286
Carney-Stratakis syndrome
Also known as: Carney dyad · Carney-Stratakis dyad · GIST-paraganglioma dyad · Paraganglioma and gastric stromal sarcoma
Publications
559
Trials
0
Interventional, condition-specific
Researchers
1,125
Distinct authors in sample
Gene link
SDHB, SDHC, SDHD
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.
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:0011740
- MeSH:C564650
- OMIM:606864
- UMLS:C1847319
- NCIT:C94831
Additional Mondo synonyms (2)
gist-paraganglioma dyad · paraganglioma and gastric stromal sarcoma
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SDHB, SDHC, SDHD
- LiteraturePresent
559 matched papers (368 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?
Yes — we know a specific gene responsible (SDHB, SDHC, SDHD).
GenCC classification: Definitive.
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?
559
559 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.
559 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).
368 in the last 10 years · low confidence
Phrase hits: 559 · MeSH hits: 10
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 CA5 papers · 2025
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA.
Papers in Europe PMC - 02Liu Y4 papers · 2025
Department of Pathology, LSUHSC School of Medicine, New Orleans, LA 70112, USA.
Papers in Europe PMC - 03Almeida MQ3 papers · 2025
Section on Endocrinology & Genetics, Program on Developmental Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America.
Papers in Europe PMC - 04Chen Y3 papers · 2025
1st Department of General Surgery, The First Affiliated Hospital of Dali University, Dali, Yunnan, China.
Papers in Europe PMC - 05Faucz FR3 papers · 2023
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA.
Papers in Europe PMC - 06Li W3 papers · 2024
Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China.
Papers in Europe PMC - 07Wardelmann E3 papers · 2025
Institut für Pathologie, Universitätsklinikum Köln, Kerpener Str. 62, 50924 Köln. eva.wardelmann@uk-koeln.de
Papers in Europe PMC - 08Agolini E2 papers · 2023
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Papers in Europe PMC - 09Anagnostou A2 papers · 2022
Department of Surgery, University Hospital of Larissa, Larissa, Greece.
Papers in Europe PMC - 10Astolfi A2 papers · 2023
Department of Translational Medicine, University of Ferrara, Ferrara, Italy.
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. 2 observational studies 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
2 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
- 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 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.
"Carney-Stratakis syndrome" OR "Carney dyad" OR "Carney-Stratakis dyad" OR "GIST-paraganglioma dyad" OR "Paraganglioma and gastric stromal sarcoma"
MeSH descriptor terms unioned into the query: Carney-Stratakis Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Carney-Stratakis syndrome" OR "Carney dyad" OR "Carney-Stratakis dyad" OR "GIST-paraganglioma dyad" OR "Paraganglioma and gastric stromal sarcoma" OR "SDHC" OR "SDHD"
Recall-expansion terms: SDHC, SDHD
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (559) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T05:06:24.374Z