Homozygous loss-of-function mutations of the SLC34A1 gene have been reported to cause vitamin D-resistant hypophosphatemic rickets, associated with renal Fanconi syndrome, elevated serum 1,25(OH)2D (stimulated by hypophosphatemia), and subsequent hypercalciuria (40, 41) due to enhanced intestinal calcium absorption (42, 43). Here, SLC34A1 is linked to hypophosphatemic rickets.