dilated cardiomyopathy 1JJ
Findings
No curated finding names dilated cardiomyopathy 1JJ 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 LAMA4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014095), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
2 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
- 3 of 3 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 3 of 3 reported patients
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.
- LAMA4HGNC:6484
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2026
- Limited · Illumina · Autosomal dominant · 2019
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1JJ
- Also called
- cardiomyopathy, dilated, type 1JjCMD1JJdilated cardiomyopathy type 1JJfamilial isolated dilated cardiomyopathy caused by mutation in LAMA4LAMA4 familial isolated dilated cardiomyopathy