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

Rare Disease

dilated cardiomyopathy 1NN

MONDO:0014396

Also known as:CMD1NNRAF1 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Nn

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.

GeneticsAutosomal dominant · RAF1 (chr 3)

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: Congestive heart failure, Reduced left ventricular ejection fraction, Mitral regurgitation, and Enlarged and weakened heart (dilated cardiomyopathy); and very common findings: Increased left ventricular end-diastolic volume and Abnormal ST segment. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Congestive heart failure, Ventricular arrhythmia, Reduced left ventricular ejection fraction

Genetic Landscape

RAF1 function has not been fully characterized.

Dilated cardiomyopathy 1NN is associated with mutations in the RAF1 gene on chromosome 3.

Diagnosis

Genetic testing for RAF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615916

GARD

Genetic and Rare Diseases Info Center

GARD:16031

Questions for Your Care Team

→Should I pursue genetic testing for RAF1, 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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dilated cardiomyopathy 1NN

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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