ORPHA:99125
Congenital total pulmonary venous return anomaly
Publications
2,072
93.8th percentile
Trials
1
Interventional, condition-specific
Researchers
1,336
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007130
- OMIM:106700
- UMLS:C4551903
- NCIT:C98585
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,072 matched papers (1,239 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 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)
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?
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=5449) is 41.
2,072 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).
1,239 in the last 10 years · high confidence · 93.8th percentile (publications denominator)
Phrase hits: 2,072 · MeSH hits: 0
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.
- 01Lee J6 papers · 2025
Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Papers in Europe PMC - 02Shin 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 - 03Yamamoto Y4 papers · 2024
Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Papers in Europe PMC - 04Yoshimura Y4 papers · 2025
Department of Pediatric Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Papers in Europe PMC - 05Ailes 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 - 06Akiyama S3 papers · 2024
Department of Pediatric Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Papers in Europe PMC - 07Bacha 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 - 08Beqaj 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 - 09Choi M3 papers · 2024
National Evidence-based Healthcare Collaborating Agency, Seoul, Korea.
Papers in Europe PMC - 10Gupta 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
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.
"Congenital total pulmonary venous return anomaly" OR "TAPVR" OR "total anomalous pulmonary venous return"
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