nephrolithiasis/osteoporosis, hypophosphatemic, type 2

nephrolithiasis/osteoporosis, hypophosphatemic, type 2

A hereditary condition (OMIM:612287) characterised by hypophosphataemia due to renal phosphate loss, which causes hypophosphatemic urinary calculi and hypophosphatemic osteoporosis.

Molecular pathology
Caused by defects of SLC9A3R1/NHERF, which encodes a Na+/H+ exchange cofactor that regulates various receptors.