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hypertrophic cardiomyopathy 26 (CMH26) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 26

MONDO:0014883

Also known as:CMH26FLNC hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 26

Overview

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

GeneticsAutosomal dominant · FLNC (chr 7)

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 common findings: Atrial fibrillation and Congestive heart failure; and sometimes findings: Permanent atrial fibrillation, Stroke, Right atrial enlargement, and Left bundle branch block and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	11	Permanent atrial fibrillation, Stroke, Atrial fibrillation

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.

FLNC encodes filamin C (2,725 aa). Muscle-specific filamin, which plays a central role in sarcomere assembly and organization. Highest expression in Muscle Skeletal (996.8 TPM) and Colon Sigmoid (375.8 TPM).

Hypertrophic cardiomyopathy 26 is associated with mutations in the FLNC gene on chromosome 7.

FLNC is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for hypertrophic cardiomyopathy 26 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 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 26.

220 publications have been identified in PubMed for hypertrophic cardiomyopathy 26. Research spans Epidemiology / Natural History (23%), Diagnostic / Biomarker (23%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Disease patterns and progression	47	23%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617047

Questions for Your Care Team

→Should I pursue genetic testing for FLNC, 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 26

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 26

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