Raine Syndrome

About the Disease
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, brain and eye, and related phenotypes are short neck and microcephaly

Common Targets
FGF23 | FAM20C

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