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dilated cardiomyopathy 1CC - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1CC

MONDO:0013147

Also known as:CMD1CCNEXN familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Cc

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.

GeneticsAutosomal dominant · NEXN (chr 1)

OnsetADULT

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: Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, and Enlarged and weakened heart (dilated cardiomyopathy).

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Enlarged and weakened heart (dilated cardiomyopathy)

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).

Dilated cardiomyopathy 1CC is strongly 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.

Prognosis

Phenotype severity distribution: 3 always present features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613122

GARD

Genetic and Rare Diseases Info Center

GARD:15621

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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dilated cardiomyopathy 1CC

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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