Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

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

Rare Disease

dilated cardiomyopathy 1JJ

MONDO:0014095

Also known as:CMD1JJLAMA4 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Jj

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.

GeneticsAutosomal dominant · LAMA4 (chr 6)

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: Reduced left ventricular ejection fraction and Enlarged and weakened heart (dilated cardiomyopathy).

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Reduced left ventricular ejection fraction, Enlarged and weakened heart (dilated cardiomyopathy)

Explore clinical features

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.

LAMA4 encodes laminin subunit alpha 4 (1,823 aa). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext... Highest expression in Cells Cultured fibroblasts (268.6 TPM) and Esophagus Muscularis (146.0 TPM).

Dilated cardiomyopathy 1JJ has limited evidence linking it to mutations in the LAMA4 gene on chromosome 6.

LAMA4 is classified as a druggable target (Druggable Genome category) with score 1.4.

Diagnosis

Genetic testing for LAMA4 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615235

GARD

Genetic and Rare Diseases Info Center

GARD:15924

Questions for Your Care Team

→Should I pursue genetic testing for LAMA4, 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?

← Back to All Diseases

dilated cardiomyopathy 1JJ

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team