hypertrophic cardiomyopathy 20
Findings
No curated finding names hypertrophic cardiomyopathy 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
Definition from the Mondo Disease Ontology (MONDO:0013477), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Juvenile onset
HPO, annotations 2026-09-02
Features
4 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.
- Hypertrophic cardiomyopathyHPOHP:0001639
- 6 of 6 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 6 of 6 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 6 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 0 of 6 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.
- NEXNHGNC:29557
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 20
- Also called
- cardiomyopathy, familial hypertrophic, type 20cardiomyopathy, hypertrophic, 20CMH20hypertrophic cardiomyopathy caused by mutation in NEXNhypertrophic cardiomyopathy type 20NEXN hypertrophic cardiomyopathy