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, 2I - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, dilated, 2I

MONDO:0957545

Overview

GeneticsAutosomal recessive · CAP2 (chr 6)

ResearchLimited published research (2 articles)

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, Supraventricular tachycardia, and Enlarged and weakened heart (dilated cardiomyopathy).

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Severely reduced left ventricular ejection fraction, Supraventricular tachycardia, 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.

CAP2 encodes cyclase associated actin cytoskeleton regulatory protein 2 (477 aa). Involved in the regulation of actin polymerization Highest expression in Muscle Skeletal (262.1 TPM) and Brain Frontal Cortex BA9 (112.0 TPM).

Cardiomyopathy, dilated, 2I is associated with mutations in the CAP2 gene on chromosome 6.

The CAP2 protein participates in Recruitment of CAP to ABL pathway.

CAP2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CAP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 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 cardiomyopathy, dilated, 2I.

2 publications have been identified in PubMed for cardiomyopathy, dilated, 2I. Research spans Review / Meta-Analysis (50%) and Clinical Trial Publication (50%).

Recent Publications

Moccia F (2025). [PMID: 40149710](https://pubmed.ncbi.nlm.nih.gov/40149710/). *Biomedicines*. [Review / Meta-Analysis]
Hassan A (2024). [PMID: 38888761](https://pubmed.ncbi.nlm.nih.gov/38888761/). *Egypt Heart J*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620462

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, 2I

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features