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ORPHA:99125

Congenital total pulmonary venous return anomaly

high confidenceDisorder

Publications

2,072

88.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,336

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and congestive heart failure.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

TAPVR · total anomalous pulmonary venous return

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

    2,072 matched papers (1,239 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Pulmonary arterial hypertension; Dextrocardia; Recurrent respiratory infections) Source

  4. Animal modelPresent

    2 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

    1 matched on ClinicalTrials.gov

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)

44

Associated phenotypes · MONDO:0007130

  • Pulmonary arterial hypertension
  • Dextrocardia
  • Recurrent respiratory infections
  • Total anomalous pulmonary venous return
  • Fatigue

Showing 5 of 44 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

2,072

2,072 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=3967) is 59.

2,072 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).

1,239 in the last 10 years · high confidence · 88.4th percentile (publications denominator)

Phrase hits: 2,072 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,336

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
    Lee J6 papers · 2025

    Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

    Papers in Europe PMC
  2. 02
    Shin J4 papers · 2024

    Department of Pediatrics, CHA Bundang Medical Center, CHA University School of Medicine, 351 Yatap-Dong, Bundang-Gu, Seongnam, 463-712, Gyonggi-Do, Korea.

    Papers in Europe PMC
  3. 03
    Yamamoto Y4 papers · 2024

    Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Yoshimura Y4 papers · 2025

    Department of Pediatric Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Ailes EC3 papers · 2025

    Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.

    Papers in Europe PMC
  6. 06
    Akiyama S3 papers · 2024

    Department of Pediatric Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Bacha E3 papers · 2026

    Division of Cardiac, Thoracic, and Vascular Surgery, Section of Congenital and Pediatric Cardiac Surgery, NY-Presbyterian Morgan Stanley Children's Hospital, Columbia University Irving Medical Center, New York, NY.

    Papers in Europe PMC
  8. 08
    Beqaj H3 papers · 2026

    Division of Cardiac, Thoracic, and Vascular Surgery, Section of Congenital and Pediatric Cardiac Surgery, NY-Presbyterian Morgan Stanley Children's Hospital, Columbia University Irving Medical Center, New York, NY.

    Papers in Europe PMC
  9. 09
    Choi M3 papers · 2024

    National Evidence-based Healthcare Collaborating Agency, Seoul, Korea.

    Papers in Europe PMC
  10. 10
    Gupta A3 papers · 2025

    Cardiothoracic and Vascular Surgery All India Institute of Medical Sciences Rishikesh, Uttarakhand, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30

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 (2)

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 Congenital total pulmonary venous return anomaly — 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.

"Congenital total pulmonary venous return anomaly" OR "TAPVR" OR "total anomalous pulmonary venous return"

Run this search on Europe PMC

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

"Congenital total pulmonary venous return anomaly" OR "TAPVR" OR "total anomalous pulmonary venous return"

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: 1 interventional · 0 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

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 2026-07-27T06:07:15.056Z