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heterotaxy, visceral, 5, autosomal (HTX5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 5, autosomal

MONDO:0700112

Also known as:HTX5NODAL visceral heterotaxySIV

Overview

Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.

GeneticsAutosomal dominant · NODAL (chr 10)

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 common findings: Single ventricle, Dextrocardia, Abdominal situs ambiguus, and Dextrotransposition of the great arteries and others; and sometimes findings: Shrinkage of the cerebellum (cerebellar atrophy), Atrial reentry tachycardia, Double inlet left ventricle, and Absence of the sacrum and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4

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.

NODAL encodes nodal growth differentiation factor (347 aa). Essential for mesoderm formation and axial patterning during embryonic development Highest expression in Testis (3.4 TPM) and Brain Cerebellum (2.8 TPM).

Heterotaxy, visceral, 5, autosomal is associated with mutations in the NODAL gene on chromosome 10.

The NODAL protein participates in Signaling by NODAL, Regulation of signaling by NODAL, and Germ layer formation at gastrulation pathways.

NODAL is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 104.4.

Diagnosis

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

Prognosis

Phenotype severity distribution: 8 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, 5, autosomal.

10 publications have been identified in PubMed for heterotaxy, visceral, 5, autosomal. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	3	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:270100

Questions for Your Care Team

→Should I pursue genetic testing for NODAL, 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?

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heterotaxy, visceral, 5, autosomal

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

heterotaxy, visceral, 5, autosomal

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications