Phenotypes associated with the disease sinus node disease and myopia (OMIM:182190):
- Sick sinus syndrome (HP:0011704): An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. Evidence: TAS. (OMIM:182190)
- Abnormal electrophysiology of sinoatrial node origin (HP:0011702): An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. Evidence: TAS. (OMIM:182190)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: TAS. (OMIM:182190)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:182190)