Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

cardiomyopathy, dilated, 2j - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, dilated, 2j

MONDO:0957984

Overview

GeneticsAutosomal recessive · FLII (chr 17)

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: Severely reduced left ventricular ejection fraction and Enlarged and weakened heart (dilated cardiomyopathy); and common findings: Secundum atrial septal defect and Congestive heart failure.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Secundum atrial septal defect, Congestive heart failure, Severely reduced left ventricular ejection fraction

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.

FLII encodes FLII actin remodeling protein (1,269 aa). Is a regulator of actin polymerization, required for proper myofibril organization and regulation of the length of sarcomeric thin filaments. Highest expression in Muscle Skeletal (198.6 TPM) and Artery Tibial (148.8 TPM).

Cardiomyopathy, dilated, 2j has been associated with mutations in the FLII gene on chromosome 17.

The FLII protein participates in LRR FLII-interacting protein 1 associates with beta-catenin, RHOA GEFs activate RHOA, and RAC1 GEFs activate RAC1 pathways.

FLII is classified as a druggable target (Nuclear Hormone Receptor category) with score 0.0.

Diagnosis

Genetic testing for FLII is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620635

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

cardiomyopathy, dilated, 2j

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features