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dilated cardiomyopathy 1AA

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
Uniprot Description A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Mondo Term and Equivalent IDs
MONDO:0012808:  dilated cardiomyopathy 1AA
MESH:C567407: 
UMLS:C2677338: