dilated cardiomyopathy 1X
Findings
No curated finding names dilated cardiomyopathy 1X 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 FKTN gene.
Definition from the Mondo Disease Ontology (MONDO:0012704), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
8 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
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 6 of 6 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 6 of 6 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 4 of 6 reported patients
- Gowers signHPOHP:0003391
- 3 of 6 reported patients
- Proximal muscle weakness
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.
- FKTNHGNC:3622
- Definitive · Natera · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1X
- Also called
- cardiomyopathy, dilated, type 1XCMD1Xdilated cardiomyopathy type 1Xfamilial isolated dilated cardiomyopathy caused by mutation in FKTNFKTN familial isolated dilated cardiomyopathy