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hypertrophic cardiomyopathy 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.
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:0007268:  hypertrophic cardiomyopathy 4
MESH:C566169: 
NCIT:C133725: 
UMLS:C1861862: