Variants in ALPK3 may cause a disease of the heart muscle (cardiomyopathy). The disease usually presents in childhood. Some patients also display features beyond the heart, such as short stature and muscular abnormalities.
ALPK3-cardiomyopathy is an autosomal recessive disorder. This means that both copies of the gene have to have pathogenic mutations in order for the disease to develop. The exact prevalence of ALPK3-cardiomyopathy cannot be accurately estimated due to the limited number of cases reported to date. Carriers of one mutated copy of ALPK3 may be at increased risk of developing cardiomyopathy at adult age. So far, no extracardiac features have been reported in carriers of one mutated gene copy.