dilated cardiomyopathy 1U
Findings
No curated finding names dilated cardiomyopathy 1U 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 PSEN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013371), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Late 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
- 3 of 3 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 3 of 3 reported patients
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- 3 of 3 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 2 of 3 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 3 reported patients
- First degree atrioventricular blockHPOHP:0011705
- 1 of 3 reported patients
- Left bundle branch block
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.
- PSEN1HGNC:9508
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Disputed Evidence · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1U
- Also called
- cardiomyopathy, dilated, type 1UCMD1Udilated cardiomyopathy type 1Ufamilial isolated dilated cardiomyopathy caused by mutation in PSEN1PSEN1 familial isolated dilated cardiomyopathy