Hypocalcemia

About the Disease
Hypocalcemia, Autosomal Dominant 1, also known as autosomal dominant hypocalcemia, is related to hyperparathyroidism, neonatal severe and hypophosphatemic rickets, autosomal dominant, and has symptoms including muscle cramp, seizures and carpopedal spasm. An important gene associated with Hypocalcemia, Autosomal Dominant 1 is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Zoledronic acid and Foscarnet have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related phenotypes are emotional lability and anxiety

Common Targets
CASR | AP2S1 | TRPM6 | PTPN22 | PTH | GNA11 | Parathyroid Hormone Receptors (PTHR) (nonspecified subtype) | CLCN7

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