cardiomyopathy, familial restrictive, 1
Findings
No curated finding names cardiomyopathy, familial restrictive, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.
Definition from the Mondo Disease Ontology (MONDO:0007270), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Left ventricular hypertrophyHPOHP:0001712
- 6 of 9 reported patients
- Left atrial enlargementHPOHP:0031295
- 3 of 9 reported patients
- Restrictive cardiomyopathyHPOHP:0001723
- Sudden cardiac deathHPOHP:0001645
- VentriculomegalyHPOHP:0002119
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: cardiomyopathy, familial restrictive, 1
- Also called
- cardiomyopathy, familial restrictive, type 1familial isolated restrictive cardiomyopathy caused by mutation in TNNI3TNNI3 familial isolated restrictive cardiomyopathy