Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

right atrial isomerism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

right atrial isomerism

MONDO:0008832

Also known as:Ivemark Syndromeasplenia with cardiovascular anomaliesright atrial isomerism (disease)

Overview

A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.

GeneticsAutosomal recessive · GDF1 (chr 19)

OnsetCONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Common atrium, Total anomalous pulmonary venous return, and Asplenia; and common findings: Situs inversus totalis, Dextrocardia, and Transposition of the great arteries. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Abnormal lung lobation, Total anomalous pulmonary venous return, Pulmonary artery atresia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GDF1 encodes growth differentiation factor 1 (372 aa). May mediate cell differentiation events during embryonic development

Right atrial isomerism is associated with mutations in the GDF1 gene on chromosome 19.

The GDF1 protein participates in Signaling by NODAL pathway.

GDF1 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for GDF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for right atrial isomerism has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for right atrial isomerism.

140 publications have been identified in PubMed for right atrial isomerism. Research spans Case Report / Case Series (43%), Clinical Trial Publication (16%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	60	43%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:18 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208530

Orphanet

European rare disease database

Orphanet:97548

GARD

Genetic and Rare Diseases Info Center

GARD:6795

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

right atrial isomerism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

A Rare Cardiac Triple Siege in Youth: Right Atrial Lipoma, Coronary Stenosis, and Myocardial Bridge.

right atrial isomerism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

A Rare Cardiac Triple Siege in Youth: Right Atrial Lipoma, Coronary Stenosis, and Myocardial Bridge.