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left ventricular noncompaction 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

left ventricular noncompaction 10

MONDO:0014163

Also known as:MYBPC3 left ventricular noncompactionleft ventricular noncompaction caused by mutation in MYBPC3left ventricular noncompaction type 10

Overview

Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.

GeneticsAutosomal dominant · MYBPC3 (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: Left ventricular noncompaction; and sometimes findings: Congestive heart failure, High blood pressure in lung arteries (pulmonary arterial hypertension), Increased left ventricular end-diastolic volume, and Syncope. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Left ventricular noncompaction, Congestive heart failure, High blood pressure in lung arteries (pulmonary arterial hypertension)

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.

MYBPC3 encodes myosin binding protein C3 (1,274 aa). Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. Highest expression in Heart Left Ventricle (1,351 TPM) and Heart Atrial Appendage (991.7 TPM).

Left ventricular noncompaction 10 is associated with mutations in the MYBPC3 gene on chromosome 11.

MYBPC3 is classified as a druggable target (Kinase category) with score 6.5.

Diagnosis

Genetic testing for MYBPC3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for left ventricular noncompaction 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 left ventricular noncompaction 10.

38 publications have been identified in PubMed for left ventricular noncompaction 10. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	10	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615396

GARD

Genetic and Rare Diseases Info Center

GARD:15956

Questions for Your Care Team

→Should I pursue genetic testing for MYBPC3, 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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Kisho

left ventricular noncompaction 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

left ventricular noncompaction 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications