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dilated cardiomyopathy 1KK - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1KK

MONDO:0014100

Also known as:CMD1KKMYPN dilated cardiomyopathycardiomyopathy, dilated, type 1Kk

Overview

Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.

GeneticsAutosomal dominant · MYPN (chr 10)

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: Enlarged and weakened heart (dilated cardiomyopathy); and very common findings: Increased left ventricular end-diastolic volume. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	8	Thickened wall between heart chambers (ventricular septal hypertrophy), Atrial fibrillation, Increased left ventricular end-diastolic volume

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.

MYPN encodes myopalladin (1,320 aa). Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines Highest expression in Muscle Skeletal (118.8 TPM) and Heart Left Ventricle (28.4 TPM).

Dilated cardiomyopathy 1KK has limited evidence linking it to mutations in the MYPN gene on chromosome 10.

MYPN is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MYPN is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for dilated cardiomyopathy 1KK has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 1 common 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 dilated cardiomyopathy 1KK.

100 publications have been identified in PubMed for dilated cardiomyopathy 1KK. Kisho has analyzed 29 by research type. Research spans Review / Meta-Analysis (34%), Epidemiology / Natural History (34%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Research summaries	10	34%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615248

GARD

Genetic and Rare Diseases Info Center

GARD:15926

Questions for Your Care Team

→Should I pursue genetic testing for MYPN, 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

dilated cardiomyopathy 1KK

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

dilated cardiomyopathy 1KK

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