RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:3303

Tetralogy of Fallot

low confidenceDisorder

Publications

29,281

Trials

47

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

GATA6, KDR, NKX2-5

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Tetralogy of Fallot is a cardiac that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

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 (2)

tetralogy of fallot · ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GATA6, KDR, NKX2-5, POPDC1, ZFPM2

  2. LiteraturePresent

    29,281 matched papers (13,470 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    47 matched on ClinicalTrials.gov (10 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?

Yes — we know a specific gene responsible (GATA6, KDR, NKX2-5…).

GenCC classification: Definitive.

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?

29,281

29,281 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=5449) is 41.

29,281 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).

13,470 in the last 10 years · low confidence

Phrase hits: 29,281 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,169

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
    Nathan M4 papers · 2026

    Department of Cardiac Surgery, Boston Children's Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School, Boston, Massachusetts. Electronic address: meena.nathan@cardio.chboston.org.

    Papers in Europe PMC
  2. 02
    Wang H4 papers · 2026

    Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  3. 03
    Bhat M3 papers · 2026

    Department of Pediatric Cardiology, Pediatric Heart Center, Skane University Hospital, Lund, Sweden.

    Papers in Europe PMC
  4. 04
    Connor JA3 papers · 2026

    Cardiovascular, Critical Care and Perioperative Patient Services Boston Children's Hospital, Harvard Medical School Boston MA USA.

    Papers in Europe PMC
  5. 05
    Gauvreau K3 papers · 2026

    Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

    Papers in Europe PMC
  6. 06
    Hörer J3 papers · 2026

    Department of Congenital Heart Defect Surgery and Paediatric Cardiac Surgery, TUM University Hospital German Heart Center, Technical University of Munich, Munich, Germany.

    Papers in Europe PMC
  7. 07
    Inai K3 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Jacobs JP3 papers · 2026

    Congenital Heart Center, University of Florida Health Shands Children's Hospital, Gainesville, Florida.

    Papers in Europe PMC
  9. 09
    Khairy P3 papers · 2026

    Electrophysiology Service and Adult Congenital Heart Disease Center.

    Papers in Europe PMC
  10. 10
    Kogure T3 papers · 2026

    Department of Cardiology, Tokyo Women's Medical University, Tokyo, Shinjuku-ku, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

47

interventional trials for this specific condition

47 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 27 July 2026

47 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.9th percentile).

low confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

37 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

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 2026-07-26

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.

"Tetralogy of Fallot" OR "Tetralogy of the Fallot" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of the aorta, and hypertrophy of the right ventricle"

Run this search on Europe PMC

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

"Tetralogy of Fallot" OR "Tetralogy of the Fallot" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of the aorta, and hypertrophy of the right ventricle" OR "GATA6" OR "KDR" OR "NKX2-5" OR "POPDC1" OR "ZFPM2"

Recall-expansion terms: GATA6, KDR, NKX2-5, POPDC1, ZFPM2

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: 47 interventional · 37 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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
  • Publication count (29281) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:47:52.947Z