dilated cardiomyopathy 1M
Findings
No curated finding names dilated cardiomyopathy 1M yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
Definition from the Mondo Disease Ontology (MONDO:0011840), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
6 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.
- Dilated cardiomyopathyHPOHP:0001644
- 6 of 6 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 6 of 6 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 5 of 5 reported patients
- Congestive heart failureHPOHP:0001635
- 8 of 10 reported patients
- Endocardial fibroelastosisHPOHP:0001706
- Impaired myocardial contractilityHPOHP:0006670
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.
- CSRP3HGNC:2472
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Limited · ClinGen · Autosomal dominant · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1M
- Also called
- cardiomyopathy, dilated, type 1MCMD1MCSRP3 familial isolated dilated cardiomyopathydilated cardiomyopathy type 1Mfamilial isolated dilated cardiomyopathy caused by mutation in CSRP3