Autosomal Recessive Hypophosphatemic Rickets (ARHR)

Autosomal Recessive Hypophosphatemic Rickets, also known as autosomal recessive hypophosphatemic vitamin d refractory rickets, is related to pseudoxanthoma elasticum and dentinogenesis imperfecta. An important gene associated with Autosomal Recessive Hypophosphatemic Rickets is DMP1 (Dentin Matrix Acidic Phosphoprotein 1), 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 Vitamin D receptor pathway. The drugs Cholecalciferol and Calcitriol have been mentioned in the context of this disorder. Affiliated tissues include bone and skeletal muscle, and related phenotypes are hypophosphatemic rickets and skeletal dysplasia