RARE DISEASERESEARCH ATLAS

ORPHA:99100

Juxtaposition of the atrial appendages

high confidenceDisorder

Also known as: Juxtaposition of the atrial auricles

Publications

146

48th percentile

Trials

0

Interventional, condition-specific

Researchers

524

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other heart diseases.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

juxtaposition of the atrial auricles

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    146 matched papers (37 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 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?

146

146 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.

146 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).

37 in the last 10 years · high confidence · 48th percentile (publications denominator)

Phrase hits: 146 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

524

Distinct author names in 146 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.

  1. 01
    Anderson RH12 papers · 2016

    2Institute of Genetic Medicine,Newcastle University,Newcastle-on-Tyne,United Kingdom.

    Papers in Europe PMC
  2. 02
    Becker AE5 papers · 1979
    Papers in Europe PMC
  3. 03
    Thiene G5 papers · 2020

    Cardiovascular Pathology, Department of Cardiac Thoracic and Vascular Sciences, University of Padua Medical School , Padua , Italy.

    Papers in Europe PMC
  4. 04
    Van Praagh R5 papers · 2009

    Departments of Pathology, Cardiology, and Cardiac Surgery, Children's Hospital Boston, Boston, MA, USA. susan.boissonneault@cardio.chboston.org

    Papers in Europe PMC
  5. 05
    Frescura C4 papers · 2020

    Cardiovascular Pathology, Department of Cardiac Thoracic and Vascular Sciences, University of Padua Medical School , Padua , Italy.

    Papers in Europe PMC
  6. 06
    Ho SY4 papers · 2016

    NIHR Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust, National Heart and Lung Institute, Imperial College, London, UK.

    Papers in Europe PMC
  7. 07
    Somerville J4 papers · 2010

    Paediatric Department, Mater Dei Hospital, Malta.

    Papers in Europe PMC
  8. 08
    Yoo SJ4 papers · 2023

    Department of Radiology, Sejong Heart Institute, Pucheon, Korea.

    Papers in Europe PMC
  9. 09
    Dickinson DF3 papers · 1986
    Papers in Europe PMC
  10. 10
    Edwards JE3 papers · 1974
    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 2026-07-26

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.

"Juxtaposition of the atrial appendages" OR "Juxtaposition of atrial appendages" OR "Juxtaposition of the atrial auricles" OR "Juxtaposition of atrial auricles"

Run this search on Europe PMC

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

"Juxtaposition of the atrial appendages" OR "Juxtaposition of atrial appendages" OR "Juxtaposition of the atrial auricles" OR "Juxtaposition of atrial auricles"

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 2026-07-27T06:03:57.150Z