Hypophosphatemic Rickets with Hypercalciuria, Hereditary (HHRH)

Hypophosphatemic Rickets with Hypercalciuria, Hereditary, also known as hereditary hypophosphatemic rickets with hypercalciuria, is related to hypercalciuria, absorptive, 2 and cystic kidney disease, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Hypophosphatemic Rickets with Hypercalciuria, Hereditary is SLC34A3 (Solute Carrier Family 34 Member 3), and among its related pathways/superpathways are Infectious disease and Diseases of glycosylation. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are hypophosphatemia and hypercalciuria