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congenital heart defects, multiple types, 6 (DTGA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital heart defects, multiple types, 6

MONDO:0013463

Also known as:DTGA3GDF1 dextro-looped transposition of the great arteriesdextro-looped transposition of the great arteries 3

Overview

Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.

GeneticsAutosomal dominant · GDF1 (chr 19)

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: Hypoplastic pulmonary veins, Complete atrioventricular canal defect, Secundum atrial septal defect, and Single ventricle and 10 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Secundum atrial septal defect, Ventricular septal defect, Right aortic arch

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.

GDF1 encodes growth differentiation factor 1 (372 aa). May mediate cell differentiation events during embryonic development

Congenital heart defects, multiple types, 6 is associated with mutations in the GDF1 gene on chromosome 19.

The GDF1 protein participates in Signaling by NODAL pathway.

GDF1 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for GDF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital heart defects, multiple types, 6 has been reported in the published literature.

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 congenital heart defects, multiple types, 6.

132 publications have been identified in PubMed for congenital heart defects, multiple types, 6. Research spans Clinical Trial Publication (35%), Epidemiology / Natural History (26%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Clinical study results	46	35%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613854

Questions for Your Care Team

→Should I pursue genetic testing for GDF1, 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

congenital heart defects, multiple types, 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital heart defects, multiple types, 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications