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

heterotaxy, visceral, 4, autosomal - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 4, autosomal

MONDO:0013403

Also known as:ACVR2B visceral heterotaxyvisceral heterotaxy caused by mutation in ACVR2BHTX4

Overview

Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.

GeneticsAutosomal dominant · ACVR2B (chr 3)

ResearchLimited published research (4 articles)

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: Atrioventricular canal defect; and common findings: Complete atrioventricular canal defect, Dextrocardia, Common atrium, and Bilateral superior vena cava and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	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.

ACVR2B encodes activin A receptor type 2B (512 aa). Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Highest expression in Brain Cerebellar Hemisphere (10.5 TPM) and Brain Cerebellum (10.0 TPM).

Heterotaxy, visceral, 4, autosomal is associated with mutations in the ACVR2B gene on chromosome 3.

The ACVR2B protein participates in Signaling by Activin, Signaling by NODAL, and Signaling by BMP pathways.

ACVR2B is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 13.1.

2 pathogenic variants reported in ACVR2B in ClinVar.

Diagnosis

Genetic testing for ACVR2B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 14 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 heterotaxy, visceral, 4, autosomal.

4 publications have been identified in PubMed for heterotaxy, visceral, 4, autosomal. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Ghandourah H (2025). [PMID: 41082487](https://pubmed.ncbi.nlm.nih.gov/41082487/). *The American journal of case reports*. [Case Report / Case Series]
Sun Z (2025). [PMID: 41261143](https://pubmed.ncbi.nlm.nih.gov/41261143/). *Communications biology*. [Basic Science / Preclinical]
Chen Z (2025). [PMID: 40552176](https://pubmed.ncbi.nlm.nih.gov/40552176/). *Frontiers in medicine*. [Case Report / Case Series]
Reilly K (2024). [PMID: 38708840](https://pubmed.ncbi.nlm.nih.gov/38708840/). *Prenatal diagnosis*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613751

Questions for Your Care Team

→Should I pursue genetic testing for ACVR2B, and what would the results mean for my family?
→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

heterotaxy, visceral, 4, autosomal

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features