Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 (NPHLOP2)

Nephrolithiasis/osteoporosis, Hypophosphatemic, 2, also known as hypophosphatemic nephrolithiasis/osteoporosis 2, is related to barber-say syndrome and intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 is NHERF1 (NHERF Family PDZ Scaffold Protein 1), and among its related pathways/superpathways is Tyrosine Kinases / Adaptors. Affiliated tissues include kidney, and related phenotypes are osteopenia and hypophosphatemia