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hypertrophic cardiomyopathy 18

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN 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.
Disease Ontology Description A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.
Mondo Term and Equivalent IDs
MONDO:0013475:  hypertrophic cardiomyopathy 18
UMLS:C3151265: