right atrial isomerism
Findings
No curated finding names right atrial isomerism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008832), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AspleniaHPOHP:0001746
- 5 of 5 reported patients
- Common atriumHPOHP:0011565
- 5 of 5 reported patients
- Total anomalous pulmonary venous returnHPOHP:0005160
- 5 of 5 reported patients · Congenital onset
- Transposition of the great arteriesHPOHP:0001669
- 7 of 10 reported patients
- DextrocardiaHPOHP:0001651
- 2 of 5 reported patients
- Situs inversus totalisHPOHP:0001696
- 2 of 5 reported patients
- Aortopulmonary collateral arteriesHPO
Show the remaining 1
- Single ventricleHPOHP:0001750
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:4214HGNC:4214
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: right atrial isomerism
- Also called
- asplenia with cardiovascular anomaliesIvemark Syndromeright atrial isomerism (disease)right atrial isomerism (ivemark)