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congenital heart defects, multiple types, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital heart defects, multiple types, 2

MONDO:0014000

Also known as:TAB2 congenital heart malformationcongenital heart defects, nonsyndromic, 2congenital heart malformation caused by mutation in TAB2

Overview

Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.

GeneticsAutosomal dominant · TAB2 (chr 6)

OnsetADULT

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: Aortic regurgitation; and common findings: Subvalvular aortic stenosis, Atrial fibrillation, Bicuspid aortic valve, and Congestive heart failure and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	10	Aortic valve stenosis, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis

Genetic Landscape

TAB2 function has not been fully characterized.

Congenital heart defects, multiple types, 2 is associated with mutations in the TAB2 gene on chromosome 6.

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 TAB2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital heart defects, multiple types, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 6 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 congenital heart defects, multiple types, 2.

52 publications have been identified in PubMed for congenital heart defects, multiple types, 2. Research spans Epidemiology / Natural History (33%), Basic Science / Preclinical (27%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Disease patterns and progression	17	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614980

Questions for Your Care Team

→Should I pursue genetic testing for TAB2, 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, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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congenital heart defects, multiple types, 2

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