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congenital heart defects, multiple types, 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital heart defects, multiple types, 4

MONDO:0014344

Also known as:NR2F2 congenital heart defects, multiple typescongenital heart defects, multiple types caused by mutation in NR2F2CHTD4

Overview

Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.

GeneticsAutosomal dominant · NR2F2 (chr 15)

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: Atrioventricular canal defect; and sometimes findings: Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, and Hypoplastic left heart and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Aortic valve stenosis, Ventricular septal defect, Hypoplastic left heart

Explore clinical features

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.

NR2F2 encodes nuclear receptor subfamily 2 group F member 2 (414 aa). Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Highest expression in Ovary (311.8 TPM) and Nerve Tibial (204.9 TPM).

Congenital heart defects, multiple types, 4 is associated with mutations in the NR2F2 gene on chromosome 15.

The NR2F2 protein participates in NR2C2,NR2F2:ZNF827:NuRD:telomeric chromatin, NR2C2,NR2F2:ZNF827:NuRD:H4K5,H4K8 Ac telomeric chromatin, and ZNF827 and NR2C2,NR2F2 recruit NuRD to telomeric chromatin pathways.

NR2F2 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 2.2.

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 NR2F2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital heart defects, multiple types, 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common feature.

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, 4.

20 publications have been identified in PubMed for congenital heart defects, multiple types, 4. Research spans Clinical Trial Publication (45%), Epidemiology / Natural History (30%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Clinical study results	9	45%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615779

Questions for Your Care Team

→Should I pursue genetic testing for NR2F2, 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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congenital heart defects, multiple types, 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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