dilated cardiomyopathy 1L
Findings
No curated finding names dilated cardiomyopathy 1L 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 SGCD gene.
Definition from the Mondo Disease Ontology (MONDO:0011702), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult 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.
- Congestive heart failureHPOHP:0001635
- 7 of 7 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 5 of 5 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 5 of 5 reported patients
- Sudden cardiac deathHPOHP:0001645
- 4 of 7 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 0 of 3 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- Reduced systolic functionHPOHP:0006673
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.
- SGCDHGNC:10807
- Limited · ClinGen · Autosomal dominant · 2026
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1L
- Also called
- cardiomyopathy, dilated, type 1LCMD1Ldilated cardiomyopathy type 1Lfamilial isolated dilated cardiomyopathy caused by mutation in SGCDSGCD familial isolated dilated cardiomyopathy