Disease

Pseudohypoparathyroidism Type 1B

About the Disease
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. The drugs Benzocaine and Theophylline have been mentioned in the context of this disorder. Affiliated tissues include thyroid, kidney and bone, and related phenotypes are pseudohypoparathyroidism and hyperphosphatemia

Common Targets
SNU13 | PPIEL | GET1 | GNAS-AS1 | GNAS | STX16

疾病靶点研报
Pseudohypoparathyroidism type 1B

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