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heterotaxy, visceral, 2, autosomal (DTGA2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heterotaxy, visceral, 2, autosomal

MONDO:0011546

Also known as:DTGA2transposition of the great arteries, dextro-looped 2HTX2

Overview

GeneticsAutosomal dominant · CFC1 (chr 2)

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: Microcephaly, Dextrocardia, Agenesis of corpus callosum, and Bilateral superior vena cava and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	2	Abdominal situs inversus, Intestinal malrotation

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.

CFC1 encodes cryptic, EGF-CFC family member 1 (223 aa). NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation Highest expression in Pituitary (9.7 TPM) and Brain Hypothalamus (4.3 TPM).

Heterotaxy, visceral, 2, autosomal is associated with mutations in the CFC1 gene on chromosome 2.

The CFC1 protein participates in Disorders of Developmental Biology pathway.

CFC1 is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 0.0.

Diagnosis

Genetic testing for CFC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for heterotaxy, visceral, 2, autosomal has been reported in the published literature.

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, 2, autosomal.

115 publications have been identified in PubMed for heterotaxy, visceral, 2, autosomal. Research spans Clinical Trial Publication (37%), Epidemiology / Natural History (19%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Clinical study results	43	37%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605376

Questions for Your Care Team

→Should I pursue genetic testing for CFC1, 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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Kisho

heterotaxy, visceral, 2, 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, 2, 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