Disease ID | Source | Name | Description |
600858 | OMIM | Cardiomyopathy, familial hypertrophic 6 (CMH6) | 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. The disease is caused by variants affecting the gene represented in this entry. |
261740 | OMIM | Glycogen storage disease of heart lethal congenital (GSDH) | Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. The disease is caused by variants affecting the gene represented in this entry. |
194200 | OMIM | Wolff-Parkinson-White syndrome (WPWS) | A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. The disease is caused by variants affecting the gene represented in this entry. |