RARE DISEASERESEARCH ATLAS
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ORPHA:1205

Mitral atresia

low confidenceDisorder

Publications

1,339

Trials

1

Interventional, condition-specific

Researchers

1,291

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-syndromic heart characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodynamic picture and clinical manifestation depend on the type and severity of associated cardiovascular anomalies (such as ventricular septal defect or aortic atresia).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

congenital atresia of mitral valve · congenital mitral valve atresia · mitral atresia · mitral valve atresia

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,339 matched papers (677 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

    1 matched on ClinicalTrials.gov (1 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?

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?

1,339

1,339 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.

1,339 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).

677 in the last 10 years · low confidence

Phrase hits: 1,339 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,291

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
    Anderson RH4 papers · 2024

    Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

    Papers in Europe PMC
  2. 02
    Crucean A4 papers · 2026

    Department of Paediatric Cardiac Surgery, Birmingham Women's and Children's Hospital, Birmingham, UK.

    Papers in Europe PMC
  3. 03
    Di Salvo G4 papers · 2025

    Paediatric Cardiology Unit, Department of Women's and Children's Health, Padova University Hospital, Padova, Italy.

    Papers in Europe PMC
  4. 04
    Ewert P4 papers · 2025

    Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich at the Technical University of Munich, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Hager A4 papers · 2025

    Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich at the Technical University of Munich, Munich, Germany.

    Papers in Europe PMC
  6. 06
    Hörer J4 papers · 2025

    Department of Congenital and Pediatric Heart Surgery, German Heart Center Munich, Technische Universität München, Munich, Germany.

    Papers in Europe PMC
  7. 07
    Jagia P4 papers · 2025

    Department of Cardiovascular Radiology & Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  8. 08
    Ono M4 papers · 2025

    Department of Congenital and Pediatric Heart Surgery, German Heart Center Munich, Technische Universität München, Munich, Germany. ono@dhm.mhn.de.

    Papers in Europe PMC
  9. 09
    Ramakrishnan S4 papers · 2025

    Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  10. 10
    Spicer DE4 papers · 2024

    Congenital Heart Center, University of Florida, Gainesville, Florida.

    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; 1 currently recruiting in our sample.

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).

low 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.

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.

"Mitral atresia" OR "congenital atresia of mitral valve" OR "congenital atresia of the mitral valve" OR "congenital mitral valve atresia" OR "mitral valve atresia"

Run this search on Europe PMC

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

"Mitral atresia" OR "congenital atresia of mitral valve" OR "congenital atresia of the mitral valve" OR "congenital mitral valve atresia" OR "mitral valve atresia"

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
  • Publication count (1339) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T16:41:57.372Z