Raine Syndrome (RNS)

Raine Syndrome, also known as lethal osteosclerotic bone dysplasia, is related to rickets and hypophosphatemic rickets, x-linked recessive. An important gene associated with Raine Syndrome is FAM20C (FAM20C Golgi Associated Secretory Pathway Kinase), and among its related pathways/superpathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and FGF23 signaling in hypophosphatemic rickets and related disorders. Affiliated tissues include bone and eye, and related phenotypes are short neck and microcephaly