Inactivating mutations in SLC34A1 can cause three different diseases: HRs with Nephrolithiasis and Osteoporosis type 1 (NPHLOP1, MIM 612286) (129,130), Fanconi Renotubular Syndrome type 2 (FRTS2, MIM 613388) (131) and Infantile Hypercalcemia type 2 (HCINF2; MIM 616963) (132). The gene discussed is SLC34A1; the disease is hypercalcemia, infantile, 2.