ORPHA:95457
Tricuspid valve agenesis
Also known as: Congenital unguarded tricuspid orifice
Publications
5
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
26
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, , non-syndromic heart characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019811
- UMLS:C0685715
Additional Mondo synonyms (1)
congenital unguarded tricuspid orifice
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5 matched papers (5 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
5
5 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
5 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
26
Distinct author names in 5 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Buijtendijk MFJ2 papers · 2023
Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centres, 1105 AZ, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Christoffels VM2 papers · 2023
Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centres, 1105 AZ, Amsterdam, The Netherlands.
Papers in Europe PMC - 03Clur SA2 papers · 2023
Department of Paediatric Cardiology, Emma Children's Hospital, Academic Medical Centre, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
Papers in Europe PMC - 04Faber JW2 papers · 2023
Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centres, 1105 AZ, Amsterdam, The Netherlands.
Papers in Europe PMC - 05Jensen B2 papers · 2023
Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centres, 1105 AZ, Amsterdam, The Netherlands. b.jensen@amsterdamumc.nl.
Papers in Europe PMC - 06Klarenberg H2 papers · 2023
Department of Biomedical Engineering & Physics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
Papers in Europe PMC - 07Moorman AFM2 papers · 2023
Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centres, 1105 AZ, Amsterdam, The Netherlands.
Papers in Europe PMC - 08Vink AS2 papers · 2023
Department of Cardiology, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
Papers in Europe PMC - 09Berceanu MC1 paper · 2024
Department of Cardiovascular Surgery, University of Medicine and Pharmacy of Craiova, Petru Rares nr. 2, 200349 Craiova, Romania.
Papers in Europe PMC - 10Bergfalk K1 paper · 2026
Department of Anatomy, Pacific Northwest University of Health Sciences, Yakima, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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.
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.
"Tricuspid valve agenesis" OR "Congenital unguarded tricuspid orifice"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tricuspid valve agenesis" OR "Congenital unguarded tricuspid orifice" OR "tricuspid valve disorder"
Recall-expansion terms: tricuspid valve disorder
Study-type breakdown: 0 interventional · 1 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
Ingested 2026-07-27T04:44:22.113Z