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ORPHA:3426

Double outlet right ventricle

medium confidenceDisorder

Also known as: DORV

Publications

7,812

94th percentile

Trials

5

Interventional, condition-specific

Researchers

1,115

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

double outlet right ventricle

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

    7,812 matched papers (4,343 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Tachypnea; Heterotaxy; Failure to thrive) Source

  4. Animal modelPresent

    3 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

    5 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)

28

Associated phenotypes · MONDO:0018089

  • Tachypnea
  • Heterotaxy
  • Failure to thrive
  • Ventricular septal defect
  • Pulmonic stenosis

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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)

6 associated chemicals · 32 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Codeine · marker/mechanism
  • Isotretinoin · marker/mechanism
  • Norethindrone · marker/mechanism
  • Phenobarbital · marker/mechanism
  • Theophylline · marker/mechanism
  • Valproic Acid · marker/mechanism

Pathways: Adherens junction; Hemostasis; Signaling by NODAL; Signaling by ERBB2; Developmental Biology; Cytokine Signaling in Immune system; Adaptive Immune System; Metabolism

MyDisease.info · MONDO:0018089

Literature

Is anyone studying this?

7,812

7,812 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.

7,812 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).

4,343 in the last 10 years · medium confidence · 94th percentile (publications denominator)

Phrase hits: 7,812 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,115

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
    Anderson RH4 papers · 2026

    Biosciences Institute, Newcastle University, Newcastle-upon-Tyne, UK.

    Papers in Europe PMC
  2. 02
    Kinjo T4 papers · 2026

    Department of Pediatric Cardiology, Tokyo Women's Medical University, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Valverde I4 papers · 2026

    Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. israel.valverde@sickkids.ca.

    Papers in Europe PMC
  4. 04
    Zhang Y4 papers · 2026

    Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  5. 05
    Andersen ND3 papers · 2026

    Pediatric Cardiothoracic Surgery, Children's Medical Center Dallas, Dallas, Tex.

    Papers in Europe PMC
  6. 06
    Fares M3 papers · 2025

    Pediatric Cardiology, Children's Medical Center Dallas, Dallas, Tex.

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

    Department of Anesthesiology and Pain Medicine, Chung-Ang University College of Medicine, 84, Heukseok-ro, Dongjak-gu, Seoul, Korea (Republic of). yesuroon@gmail.com.

    Papers in Europe PMC
  8. 08
    Honjo O3 papers · 2026

    Division of Cardiovascular Surgery, Department of Surgery, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

    Papers in Europe PMC
  9. 09
    Najm HK3 papers · 2026

    Department of Pediatric and Congenital Surgery, Cleveland Clinic, Cleveland, Ohio.

    Papers in Europe PMC
  10. 10
    Ojha V3 papers · 2026

    Department of Cardiovascular Radiology & Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, 110029, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

medium confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

None of the matched observational studies is currently listed as 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Double outlet right ventricle — 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.

"Double outlet right ventricle"

Run this search on Europe PMC

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

"Double outlet right ventricle"

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: 5 interventional · 2 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: DORV

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

Ingested 2026-07-26T23:09:46.266Z