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GTR Home > Conditions/Phenotypes > Dilated cardiomyopathy 1E

Dilated cardiomyopathy 1E

Synonyms
CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; SCN5A-Associated Dilated Cardiomyopathy; SCN5A-Related Dilated Cardiomyopathy

Summary

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. [from MONDO]

Available tests

89 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (89 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, SCN5A
    Summary: sodium voltage-gated channel alpha subunit 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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