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

hypertrophic cardiomyopathy 12 (CMH12) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 12

MONDO:0012804

Also known as:CMH12CSRP3 hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 12

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.

GeneticsAutosomal dominant · CSRP3 (chr 11)

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 common findings: Reduced left ventricular endsystolic diameter and Thickened wall between heart chambers (ventricular septal hypertrophy). 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Reduced left ventricular endsystolic diameter, Thickened heart muscle (hypertrophic cardiomyopathy), Thickened wall between heart chambers (ventricular septal 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.

CSRP3 encodes cysteine and glycine rich protein 3 (194 aa). Positive regulator of myogenesis. Acts as a cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Highest expression in Heart Left Ventricle (750.4 TPM) and Heart Atrial Appendage (603.9 TPM).

Hypertrophic cardiomyopathy 12 is associated with mutations in the CSRP3 gene on chromosome 11.

CSRP3 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for CSRP3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common 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 12.

299 publications have been identified in PubMed for hypertrophic cardiomyopathy 12. Research spans Epidemiology / Natural History (25%), Clinical Trial Publication (21%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	74	25%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612124

Questions for Your Care Team

→Should I pursue genetic testing for CSRP3, 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?

← Back to All Diseases

Kisho

hypertrophic cardiomyopathy 12

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 12

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