ORPHA:97548
Right isomerism
Also known as: Ivemark syndrome · RAI · Right atrial isomerism
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,212
Trials
0
Interventional, condition-specific
Researchers
1,102
Distinct authors in sample
Gene link
GDF1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of heterotaxy characterized by both atrial appendages having the morphology of a right atrial appendage, often associated with two morphologically right lungs and/or bronchi, and asplenia. Associated cardiovascular defects are frequent, including dextrocardia or mesocardia, common atrioventricular junction (atrioventricular septal defect), ventricular hypoplasia in half of cases, anomalous ventriculo-arterial connections (malposition or transposition of the great arteries), anomalous systemic and pulmonary venous connections (total anomalous pulmonary venous return), absent coronary sinus, and frequent subpulmonary stenosis. Cardiac arrhythmias are frequently observed. Typical extracardiac anomalies are midline liver, intestinal malrotation.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008832
- OMIM:208530
- UMLS:C3178806
Additional Mondo synonyms (5)
Ivemark Syndrome · asplenia with cardiovascular anomalies · right atrial isomerism · right atrial isomerism (disease) · right atrial isomerism (ivemark)
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GDF1
- LiteraturePresent
1,212 matched papers (620 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 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?
Yes — we know a specific gene responsible (GDF1).
GenCC classification: Strong.
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?
1,212
1,212 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.
1,212 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).
620 in the last 10 years · low confidence
Phrase hits: 1,212 · MeSH hits: 0
Who's working on it?
1,102
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.
- 01He Y5 papers · 2026
Department of Ultrasound Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, China.
Papers in Europe PMC - 02Pandey NN5 papers · 2026
Department of Cardiac Radiology, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 03Wu Q5 papers · 2026
Department of Medical Ultrasonics, Fujian Maternity and Child Health Care Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Papers in Europe PMC - 04Alaeddine M4 papers · 2026
Cardiothoracic Surgery and Fontan Clinic, Phoenix Children's Hospital, and University of Arizona, Phoenix, Ariz.
Papers in Europe PMC - 05Anderson RH4 papers · 2025
Institute of Biomedical Sciences, Newcastle University, Newcastle-upon-Tyne, UK.
Papers in Europe PMC - 06Hoashi T4 papers · 2023
Department of Pediatric Cardiovascular Surgery, National Cerebral and Cardiovascular Center, 6-1, Kishibe-shimmachi, Suita, Osaka, 564-8565, Japan. thoashi@surg1.med.osaka-u.ac.jp.
Papers in Europe PMC - 07Huang B4 papers · 2026
Department of Medical Ultrasonics, Fujian Maternity and Child Health Care Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Papers in Europe PMC - 08Ichikawa H4 papers · 2023
Department of Pediatric Cardiovascular Surgery, National Cerebral and Cardiovascular Center, 6-1, Kishibe-shimmachi, Suita, Osaka, 564-8565, Japan.
Papers in Europe PMC - 09Ito H4 papers · 2025
Department of Radiology, Mie University Hospital, Tsu, Japan.
Papers in Europe PMC - 10Ling W4 papers · 2026
Department of Medical Ultrasonics, Fujian Maternity and Child Health Care Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
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.
low 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 2026-07-26This 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.
"Right isomerism" OR "Ivemark syndrome" OR "Right atrial isomerism" OR "asplenia with cardiovascular anomalies" OR "right atrial isomerism (disease)" OR "right atrial isomerism (ivemark)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Right isomerism" OR "Ivemark syndrome" OR "Right atrial isomerism" OR "asplenia with cardiovascular anomalies" OR "right atrial isomerism (disease)" OR "right atrial isomerism (ivemark)" OR "GDF1"
Recall-expansion terms: GDF1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: RAI
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
- Publication count (1212) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T05:16:38.232Z