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ORPHA:860

Congenitally uncorrected transposition of the great arteries

low confidenceDisorder

Also known as: Discordant ventriculoarterial connections · Transposition of the great vessels

Publications

10,977

Trials

13

Interventional, condition-specific

Researchers

1,260

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare cardiac characterized by a connection of the morphologically right ventricle to the aorta, and of the morphologically left ventricle to the pulmonary trunk (atrioventricular concordance and ventriculoarterial VA discordance).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

DTGA · congenitally uncorrected transposition of the great arteries · congenitally uncorrected transposition of the great vessels · isolated ventriculoarterial discordance · ventriculoarterial discordance with atrioventricular concordance

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.”

4/6 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

    10,977 matched papers (2,629 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Cyanosis; Abnormal ventriculoarterial connection; Hyperhidrosis) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    13 matched on ClinicalTrials.gov (2 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)

46

Associated phenotypes · MONDO:0019443

  • Cyanosis
  • Abnormal ventriculoarterial connection
  • Hyperhidrosis
  • Failure to thrive
  • Atrial septal defect

Showing 5 of 46 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

10,977

10,977 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=3967) is 59.

10,977 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,629 in the last 10 years · low confidence

Phrase hits: 10,977 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,260

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
    Khairy P6 papers · 2026

    Montreal Heart Institute, University of Montreal, Montreal, QC, Canada.

    Papers in Europe PMC
  2. 02
    Barron DJ5 papers · 2026

    Division of Cardiovascular Surgery, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address: david.barron@sickkids.ca.

    Papers in Europe PMC
  3. 03
    Krieger EV5 papers · 2026

    University of Washington Medical Center and Seattle Children's Hospital, Seattle, WA, USA.

    Papers in Europe PMC
  4. 04
    Burchill LJ4 papers · 2026

    Royal Melbourne Hospital, Department of Medicine, Melbourne, Australia.

    Papers in Europe PMC
  5. 05
    Fusco F4 papers · 2026

    Monaldi Hospital, Napoli, Italy.

    Papers in Europe PMC
  6. 06
    Sarubbi B4 papers · 2026

    Monaldi Hospital, Napoli, Italy.

    Papers in Europe PMC
  7. 07
    Aboulhosn J3 papers · 2026

    UCLA Medical Center, Los Angeles, CA, USA.

    Papers in Europe PMC
  8. 08
    Aboulhosn JA3 papers · 2026

    UCLA Adult Congenital Heart Disease Center, University of California, Los Angeles, CA, USA.

    Papers in Europe PMC
  9. 09
    Ashfaq A3 papers · 2026

    Division of Cardiovascular Surgery, Department of Surgery, Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

    Papers in Europe PMC
  10. 10
    Broberg CS3 papers · 2026

    Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

13 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 7 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 11 September 2026

13 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.5th percentile).

low confidence · 93.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: transposition of the great arteries

7

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.

Observational and natural-history studies

12 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Congenitally uncorrected transposition of the great arteries — check Associations / patient organisations on that page.

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.

"Congenitally uncorrected transposition of the great arteries" OR "Congenitally uncorrected transposition of great arteries" OR "Discordant ventriculoarterial connections" OR "Transposition of the great vessels" OR "Transposition of great vessels" OR "congenitally uncorrected transposition of the great vessels" OR "congenitally uncorrected transposition of great vessels" OR "isolated ventriculoarterial discordance" OR "ventriculoarterial discordance with atrioventricular concordance"

Run this search on Europe PMC

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

"Congenitally uncorrected transposition of the great arteries" OR "Congenitally uncorrected transposition of great arteries" OR "Discordant ventriculoarterial connections" OR "Transposition of the great vessels" OR "Transposition of great vessels" OR "congenitally uncorrected transposition of the great vessels" OR "congenitally uncorrected transposition of great vessels" OR "isolated ventriculoarterial discordance" OR "ventriculoarterial discordance with atrioventricular concordance"

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: 13 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"transposition of the great arteries"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DTGA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10977) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:40:44.322Z