heterotaxy, visceral, 4, autosomal
Findings
No curated finding names heterotaxy, visceral, 4, autosomal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.
Definition from the Mondo Disease Ontology (MONDO:0013403), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Atrioventricular canal defectHPOHP:0006695
- 2 of 2 reported patients
- Midline liverHPOHP:0034188
- 2 of 3 reported patients
- Interrupted inferior vena cava with azygous continuationHPOHP:0011671
- 3 of 5 reported patients
- Bilateral superior vena cavaHPOHP:0033379
- 1 of 2 reported patients
- Common atriumHPOHP:0011565
- 1 of 2 reported patients
- Pulmonary artery atresiaHPOHP:0004935
- 1 of 2 reported patients
- Transposition of the great arteriesHPO
Show the remaining 3
- Right aortic archHPOHP:0012020
- 1 of 3 reported patients
- Total anomalous pulmonary venous returnHPOHP:0005160
- 1 of 3 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 3 reported patients
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.
- ACVR2BHGNC:174
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: heterotaxy, visceral, 4, autosomal
- Also called
- ACVR2B visceral heterotaxyvisceral heterotaxy caused by mutation in ACVR2B