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ORPHA:1478

Interatrial communication

medium confidenceDisorder

Also known as: ASD · Atrial septal defect · Interauricular communication

Publications

45,732

98.9th percentile

Trials

43

Interventional, condition-specific

Researchers

1,162

Distinct authors in sample

Gene link

MYH6

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A cardiac characterized by a communication between the atrial chambers of the heart.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

Atrial Septal Defects · atrial septal defect · atrial septum defect · auricular septal defect · congenital atrial septal defect · interatrial septal defect · interauricular communication

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — MYH6

  2. LiteraturePresent

    45,732 matched papers (25,527 in last 10 years) Source

  3. Phenotype characterisedPresent

    192 HPO annotations (e.g. Subvalvular aortic stenosis; Atrial septal defect; Dextrocardia) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    43 matched on ClinicalTrials.gov (8 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 (MYH6).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

192

Associated phenotypes · MONDO:0006664

  • Subvalvular aortic stenosis
  • Atrial septal defect
  • Dextrocardia
  • Atrioventricular canal defect
  • Patent ductus arteriosus

Showing 5 of 192 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0006664

CTD chemicals (MyDisease.info)

27 associated chemicals · 17 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Epoprostenol · therapeutic
  • Air Pollutants · marker/mechanism
  • Anti-HIV Agents · marker/mechanism
  • bromoform · marker/mechanism
  • Carbamazepine · marker/mechanism
  • Carbon Monoxide · marker/mechanism
  • chlorodibromomethane · marker/mechanism
  • Chloroform · marker/mechanism
  • Cocaine · marker/mechanism
  • Contraceptives, Oral, Synthetic · marker/mechanism
  • Diethylstilbestrol · marker/mechanism
  • Ethanol · marker/mechanism

Pathways: Spliceosome; Cardiac muscle contraction; Adrenergic signaling in cardiomyocytes; Thyroid hormone signaling pathway; Hypertrophic cardiomyopathy (HCM); Dilated cardiomyopathy; Viral myocarditis; Spliceosome, Prp19/CDC5L complex

MyDisease.info · MONDO:0006664

Literature

Is anyone studying this?

45,732

45,732 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=3967) is 59.

45,732 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).

25,527 in the last 10 years · medium confidence · 98.9th percentile (publications denominator)

Phrase hits: 39,029 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,162

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
    Blixenkrone-Møller E3 papers · 2026

    Department of Cardiology, Copenhagen University Hospital Herlev, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  2. 02
    Bundgaard H3 papers · 2026

    Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  3. 03
    Dannesbo S3 papers · 2026

    Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Cardiology, Copenhagen University Hospital Herlev, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Electronic address: sofie.dannnesbo.01@regionh.dk.

    Papers in Europe PMC
  4. 04
    Dehn AM3 papers · 2026

    Department of Cardiothoracic Surgery, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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

    Department of Cardiology, Copenhagen University Hospital Herlev, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  6. 06
    Jones M3 papers · 2025

    Department of Paediatric Cardiology, Evelina London Children's Hospital, Guy's and St Thomas NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Mandalenakis Z3 papers · 2026

    Adult Congenital Heart Disease Unit, Sahlgrenska University Hospital, Östra Hospital, Gothenburg, Sweden.

    Papers in Europe PMC
  8. 08
    Wang C3 papers · 2026

    Department of Structural Heart Disease, National Center for Cardiovascular Disease, China.

    Papers in Europe PMC
  9. 09
    Wang J3 papers · 2026

    Department of Congenital Heart Disease, General Hospital of Northern Theatre Commandhttps://ror.org/05tf9r976, Shenyang, China.

    Papers in Europe PMC
  10. 10
    Yang L3 papers · 2026

    Department of Radiology, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

43

interventional trials for this specific condition

43 interventional trials matched this specific condition name; 8 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

43 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.9th percentile).

medium confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

27 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

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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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).

Uncertain / not reviewed (12)

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 Interatrial communication — 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.

("Interatrial communication" OR "Atrial septal defect" OR "Interauricular communication" OR "Atrial Septal Defects" OR "atrial septum defect" OR "auricular septal defect" OR "congenital atrial septal defect" OR "interatrial septal defect") OR ("MYH6" OR "MYH6 syndrome" OR "MYH6-related")

Run this search on Europe PMC

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

"Interatrial communication" OR "Atrial septal defect" OR "Interauricular communication" OR "Atrial Septal Defects" OR "atrial septum defect" OR "auricular septal defect" OR "congenital atrial septal defect" OR "interatrial septal defect"

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: 43 interventional · 27 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

Synonyms dropped by stoplist: ASD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T17:30:31.918Z