Genetic variants in CYP24A1 lead to a range of phenotypical and biochemical presentations, including idiopathic infantile hypercalcemia, elevated concentrations of 1,25 dihydroxy vitamin D, adult onset nephrocalcinosis, hypercalciuria, hypercalcemia and nephrolithiasis. This evidence concerns the gene CYP24A1 and Hypercalcemia.