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 found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

1,339 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

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 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Mitral atresia — check Associations / patient organisations on that page.

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