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progressive familial heart block type IB

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.
Uniprot Description A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
Mondo Term and Equivalent IDs
MONDO:0011474:  progressive familial heart block type IB
GARD:0002610: 
MESH:C567037: 
SCTID:698250005: