Heterozygous and homozygous CASR mutations that inactivate CASR are responsible, respectively, for familial hypocalciuric hypercalcemia, type 1 (also known as familial benign hypercalcemia) (OMIM #145980) [12]–[13] and neonatal severe hyperparathyroidism (OMIM #239200) [13]. This evidence concerns the gene CASR and Familial hypocalciuric hypercalcemia type 1.