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hypertrophic cardiomyopathy 6

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 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. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.
Mondo Term and Equivalent IDs
MONDO:0010946:  hypertrophic cardiomyopathy 6
MESH:C563436: 
UMLS:C1833236: