Pseudohypoparathyroidism, Type Ib (PHP1B)

Pseudohypoparathyroidism, Type Ib, also known as pseudohypoparathyroidism type 1b, is related to hyperphosphatemia and pseudohypoparathyroidism. An important gene associated with Pseudohypoparathyroidism, Type Ib is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and Endochondral ossification with skeletal dysplasias. The drugs Benzocaine and Theophylline have been mentioned in the context of this disorder. Affiliated tissues include thyroid and kidney, and related phenotypes are pseudohypoparathyroidism and hypocalcemia