dilated cardiomyopathy 1II
Findings
No curated finding names dilated cardiomyopathy 1II 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 CRYAB gene.
Definition from the Mondo Disease Ontology (MONDO:0014073), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age 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.
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 1 of 1 reported patient
- Mitral regurgitationHPOHP:0001653
- 1 of 1 reported patient
- Moderately reduced left ventricular ejection fractionHPOHP:0012665
- 1 of 1 reported patient
- Ventricular tachycardiaHPOHP:0004756
- 1 of 1 reported patient
- Cataract
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.
- CRYABHGNC:2389
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1II
- Also called
- cardiomyopathy, dilated, type 1IICMD1IICRYAB familial isolated dilated cardiomyopathydilated cardiomyopathy type 1IIfamilial isolated dilated cardiomyopathy caused by mutation in CRYAB