ORPHA:95448
Congenital aortic valve atresia
Publications
252
70.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,225
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019808
- UMLS:C0265843
- NCIT:C98818
Additional Mondo synonyms (4)
aortic valve atresia · aortic valve atresia (disease) · congenital aortic valve atresia · congenital atresia of aortic valve
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
252 matched papers (128 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?
252
252 papers have ever been published on this condition (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.
252 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).
128 in the last 10 years · high confidence · 70.6th percentile (publications denominator)
Phrase hits: 252 · MeSH hits: 0
Who's working on it?
1,225
Distinct author names in 200 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.
- 01Garne E12 papers · 2026
Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.
Papers in Europe PMC - 02Loane M11 papers · 2024
Centre for Maternal, Fetal and Infant Research, Institute of Nursing and Health Research, Ulster University, Newtownabbey.
Papers in Europe PMC - 03Morris JK10 papers · 2026
Wolfson Institute of Preventive Medicine, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK. j.k.morris@qmul.ac.uk.
Papers in Europe PMC - 04Rankin J9 papers · 2023
Institute of Health & Society, Newcastle University, Newcastle upon Tyne, UK PHE: Regional Maternity Survey Office, Newcastle upon Tyne, UK.
Papers in Europe PMC - 05Pierini A8 papers · 2023
National Research Council (IFC-CNR), Institute of Clinical Pharmacology, Pisa, Italy.
Papers in Europe PMC - 06Rissmann A8 papers · 2026
Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, D-39120, Germany.
Papers in Europe PMC - 07Barisic I7 papers · 2026
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia.
Papers in Europe PMC - 08Blackstone EH6 papers · 2023
Department of Thoracic and Cardiovascular Surgery, The Cleveland Clinic, Cleveland, Ohio.
Papers in Europe PMC - 09Cavero-Carbonell C6 papers · 2026
Rare Diseases Research Unit, Foundation for the Promotion of the Research in Healthcare and Biomedicine, Valencia, Spain.
Papers in Europe PMC - 10Dolk H6 papers · 2018
Centre for Maternal, Fetal and Infant Research, Institute of Nursing and Health Research, Ulster University, Newtownabbey, UK.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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 aortic valve atresia" OR "aortic valve atresia" OR "aortic valve atresia (disease)" OR "congenital atresia of aortic valve" OR "congenital atresia of the aortic valve"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital aortic valve atresia" OR "aortic valve atresia" OR "aortic valve atresia (disease)" OR "congenital atresia of aortic valve" OR "congenital atresia of the aortic valve"
Study-type breakdown: 0 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 2026-07-27T04:44:00.614Z