congenital heart defects, multiple types, 2
Findings
No curated finding names congenital heart defects, multiple types, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital heart disease characterized by variable features including polyvalvular heart disease, growth failure, joint hypermobility, hypotonia, and hearing loss due to a variation in the TAB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014000), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aortic regurgitationHPOHP:0001659
- 2 of 2 reported patients
- Aortic aneurysmHPOHP:0004942
- 1 of 2 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 2 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 2 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 2 reported patients · Adult onset
- Left ventricular outflow tract obstructionHPOHP:0032092
- 1 of 2 reported patients
- Subvalvular aortic stenosisHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TAB2HGNC:17075
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Illumina · Autosomal dominant · 2020
Where it sits
Other names
5 names
Resolves to: congenital heart defects, multiple types, 2
- Also called
- cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutationCHTD2congenital heart malformation caused by mutation in TAB2TAB2 congenital heart malformationTAB2-related syndromic congenital heart disease