ORPHA:99104
Atrial septal defect, coronary sinus type
Also known as: ASD, coronary sinus type · Unroofed coronary sinus
Publications
676
88.6th percentile
Trials
0
Interventional, condition-specific
Researchers
984
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020435
- UMLS:C2063331
Additional Mondo synonyms (2)
atrial septal defect coronary sinus · unroofed coronary sinus
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
676 matched papers (422 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 trialPartial
None under the specific name; 34 for broader category atrial septal defect
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?
676
676 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.
676 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).
422 in the last 10 years · high confidence · 88.6th percentile (publications denominator)
Phrase hits: 676 · MeSH hits: 0
Who's working on it?
984
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.
- 01Khadkikar G4 papers · 2021
Cardiology, Smt. Nathiba Hargovandas Lakhmichand (NHL) Municipal Medical College, Ahmedabad, IND.
Papers in Europe PMC - 02Patel A4 papers · 2021
Cardiology, Smt. Nathiba Hargovandas Lakhmichand (NHL) Municipal Medical College, Ahmedabad, IND.
Papers in Europe PMC - 03Ikegaya Y3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 04Iwahashi D3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 05Kumar S3 papers · 2025
Division of Pediatric Critical Care Medicine, Department of Pediatrics, Masonic Children's Hospital, 5635University of Minnesota, Minneapolis, MN, USA.
Papers in Europe PMC - 06Kume N3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 07Li J3 papers · 2024
Department of Ultrasound Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 08Li Y3 papers · 2024
Department of Ultrasound Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 09Nakamura S3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
Papers in Europe PMC - 10Nakao T3 papers · 2021
New Tokyo Hospital, 1271 Wanagaya, Matsudo, Chiba, 270-2232, Japan.
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). 34 trials are registered for atrial septal defect, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
34 interventional trials matched atrial septal defect, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: atrial septal defect
34
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07716761·NOT YET RECRUITING·From Prehabilitation to Rehabilitation (Prehab2Rehab): Digitally Supported Short-Term Prehabilitation Prior to Cardiac Surgery
Conditions: Coronary Artery Bypass Grafting (CABG) Surgery · Heart Valve Surgery · Surgical Closure of an Atrial Septal Defect (ASD)·Matched via name phrase
- NCT07054541·NOT YET RECRUITING·A Novel Echocardiography-Guided Strategy for Percutateous Closure of Atrial Septal Defect Assisted by PannaWire
Conditions: Atrial Septal Defect (ASD)·Matched via name phrase
- NCT02097758·RECRUITING·Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect
Conditions: Atrial Septal Defect · Successful Device Closure·Matched via name phrase
- NCT07529028·NOT YET RECRUITING·Safety and Efficacy of the AbsnowTM II Absorbable Atrial Septal Defect Closure System for Atrial Septal Defect Closure Therapy
Conditions: Atrial Septal Defect·Matched via name phrase
- NCT06761807·NOT YET RECRUITING·Electrocardiographic and Electrophysiologic Changes After Percutaneous Closure of Atrial Septal Defect
Conditions: ASD · Brady Arrythmia·Matched via name phrase
- NCT06631534·RECRUITING·Effect of Dexmedetomidine Supplementation to General Anaesthesia in Paediatric Transcatheter Closure of Atrial Septal Defect
Conditions: Atrial Septal Defect (ASD) · Dexmedetomidine · Delirium - Postoperative · Stress Response·Matched via name phrase
- NCT07273227·NOT YET RECRUITING·A Multicenter Randomized Controlled Trial of Echocardiography-Guided Atrial Septal Defect Closure Performed in a Mobile Surgical Unit
Conditions: ASD - Atrial Septal Defect·Matched via name phrase
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.
"Atrial septal defect, coronary sinus type" OR "ASD, coronary sinus type" OR "Unroofed coronary sinus" OR "atrial septal defect coronary sinus"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Atrial septal defect, coronary sinus type" OR "ASD, coronary sinus type" OR "Unroofed coronary sinus" OR "atrial septal defect coronary sinus"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"atrial septal defect"
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 2026-07-27T06:04:34.227Z