Hyperparathyroidism, Neonatal Severe (NSHPT)

Hyperparathyroidism, Neonatal Severe, also known as neonatal severe primary hyperparathyroidism, is related to familial hypocalciuric hypercalcemia and multiple endocrine neoplasia, and has symptoms including constipation, dyspnea and polyuria. An important gene associated with Hyperparathyroidism, Neonatal Severe is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways is Ca, cAMP and Lipid Signaling. Affiliated tissues include bone and kidney, and related phenotypes are hypotonia and splenomegaly