ORPHA:99042
Congenitally uncorrected transposition of the great arteries with coarctation
Also known as: Congenitally uncorrected transposition of the great vessels with coarctation · TGA with coarctation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
41
40.6th percentile
Trials
0
Interventional, condition-specific
Researchers
247
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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.
- MONDO:0020385
- UMLS:C5680321
Additional Mondo synonyms (1)
congenitally uncorrected transposition of the great vessels with coarctation
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
41 matched papers (25 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 trialPartial
None under the specific name; 9 for broader category transposition of the great arteries
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?
41
41 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.
41 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).
25 in the last 10 years · high confidence · 40.6th percentile (publications denominator)
Phrase hits: 41 · MeSH hits: 0
Who's working on it?
247
Distinct author names in 41 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.
- 01Bonnet D4 papers · 2026
Université Paris Descartes, Sorbonne Paris Cité, 149 rue de Sevres, 75004, Paris, France.
Papers in Europe PMC - 02An P2 papers · 2023
Department of Radiology, Xiangyang No.1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, People's Republic of China.
Papers in Europe PMC - 03Derridj N2 papers · 2026
Department of Pediatric Cardiology, Necker Sick Children Hospital, Paris, France.
Papers in Europe PMC - 04Houyel L2 papers · 2018
Congenital Cardiac Surgery, Hôpital Marie-Lannelongue, Centre de Référence Malformations Cardiaques Congénitales Complexes - M3C, Université Paris-Sud, 133 avenue de la Résistance, 92350, Le Plessis-Robinson, France.
Papers in Europe PMC - 05Hussain T2 papers · 2015
Division of Imaging Sciences, King's College London BHF Centre, NIHR Biomedical Research Centre at Guy's & St Thomas' NHS Foundation Trust, Westminster Bridge Rd, London, SE1 7EH, UK. mohammad.hussain@kcl.ac.uk.
Papers in Europe PMC - 06Khoshnood B2 papers · 2023
Centre of Research in Epidemiology and Statistics (Inserm 1153, CRESS), Université Paris Cité, 75004 Paris, France.
Papers in Europe PMC - 07Li J2 papers · 2025
Cardiac Surgery, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Papers in Europe PMC - 08Abel JS1 paper · 2021
Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University of Cologne, Kerpenerstr. 34, 50931, Cologne, Germany.
Papers in Europe PMC - 09Acimovic K1 paper · 2026
Neonatal Intensive Care Unit, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, London, W12 0HS, UK.
Papers in Europe PMC - 10Adnot P1 paper · 2023
Department of General Pediatrics and Pediatric Infectious Diseases, APHP, Université Paris Cité, Hôpital Necker-Enfants Malades, CEDEX 15, 75743 Paris, France.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 9 trials are registered for transposition of the great arteries, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
9 interventional trials matched transposition of the great arteries, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: transposition of the great arteries
9
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Congenitally uncorrected transposition of the great arteries with coarctation" OR "Congenitally uncorrected transposition of great arteries with coarctation" OR "Congenitally uncorrected transposition of the great vessels with coarctation" OR "Congenitally uncorrected transposition of great vessels with coarctation" OR "TGA with coarctation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenitally uncorrected transposition of the great arteries with coarctation" OR "Congenitally uncorrected transposition of great arteries with coarctation" OR "Congenitally uncorrected transposition of the great vessels with coarctation" OR "Congenitally uncorrected transposition of great vessels with coarctation" OR "TGA with coarctation" OR "dextro-looped transposition of the great arteries"
Recall-expansion terms: dextro-looped transposition of the great arteries
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"transposition of the great arteries"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T05:54:22.912Z