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Details for phenotype: neonatal hyperparathyroidism

EndoNet ID: ENP00071


neonatal hyperparathyroidism

General information

This phenotype is not pathologic

Links to other resources

Medline Plus 001215
Disease database 20710

Phenotype triggers

  • no activity (knock out experiment or RNAi) of CaSR
    in thyroid_gland
    • Extracellular calcium ions are recognized as principal physiological regulators of parathyroid hormone secretion acting to close a endocrine feedback loop, whereby parathyroid hormone elevates extracellular calcium and in turn elevated extracellular calium suppresses parathyroid hormone secretion. [1]
    • Targeted deletion of CaSR eliminates feedback control of parathyroid hormone secretion and results in severe form of neonatal hyperparathyroidism. [1]