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dilated cardiomyopathy 1U (CMD1U) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1U

MONDO:0013371

Also known as:CMD1UPSEN1 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1U

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.

GeneticsAutosomal dominant · PSEN1 (chr 14)

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: Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fraction, and Enlarged and weakened heart (dilated cardiomyopathy); and common findings: First degree atrioventricular block, Congestive heart failure, Thickened left heart wall (left ventricular hypertrophy), and Left bundle branch block and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7

Genetic Landscape

PSEN1 function has not been fully characterized.

Diagnosis

Genetic testing for PSEN1 is available. Testing is considered disputed for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 common features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613694

GARD

Genetic and Rare Diseases Info Center

GARD:15689

Questions for Your Care Team

→Should I pursue genetic testing for PSEN1, 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 1U

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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