Despite the identification of this mutation, Dent’s disease exhibits genetic heterogeneity, with approximately 50%–60% of patients having CLCN5 mutations (Dent’s disease 1), approximately 15% harboring OCRL1 mutations (Dent’s disease 2) and the remaining 25%–35% of patients having neither CLCN5 nor OCRL1 mutations, but possibly having defects in other genes [88]. Here, CLCN5 is linked to glycogen storage disease VI.