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hypertrophic cardiomyopathy 20 (CMH20) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 20

MONDO:0013477

Also known as:CMH20NEXN hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 20

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.

GeneticsAutosomal dominant · NEXN (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Thickened heart muscle (hypertrophic cardiomyopathy) and Thickened left heart wall (left ventricular hypertrophy); and sometimes findings: Atrial fibrillation. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Thickened heart muscle (hypertrophic cardiomyopathy), Atrial fibrillation, Thickened left heart wall (left ventricular hypertrophy)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NEXN encodes nexilin F-actin binding protein (675 aa). Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity Highest expression in Muscle Skeletal (262.7 TPM) and Artery Tibial (242.5 TPM).

Hypertrophic cardiomyopathy 20 is associated with mutations in the NEXN gene on chromosome 1.

NEXN is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NEXN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypertrophic cardiomyopathy 20.

235 publications have been identified in PubMed for hypertrophic cardiomyopathy 20. Kisho has analyzed 143 by research type. Research spans Clinical Trial Publication (29%), Epidemiology / Natural History (21%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Clinical study results	41	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613876

Questions for Your Care Team

→Should I pursue genetic testing for NEXN, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypertrophic cardiomyopathy 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypertrophic cardiomyopathy 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications