dilated cardiomyopathy 2A
Findings
No curated finding names dilated cardiomyopathy 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.
Definition from the Mondo Disease Ontology (MONDO:0012746), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Cardiomyocyte hypertrophyHPOHP:0031319
- 1 of 1 reported patient
- Congestive heart failureHPOHP:0001635
- 2 of 2 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 2 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 1 of 2 reported patients
- Myofiber disarrayHPOHP:0031318
- 0 of 1 reported patient
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.
- TNNI3HGNC:11947
- Definitive · Ambry Genetics · Autosomal recessive · 2022
- Strong · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: dilated cardiomyopathy 2A
- Also called
- cardiomyopathy, dilated, type 2ACMD2Adilated cardiomyopathy type 2A