familial hypocalciuric hypercalcemia type I

Pathology

• reduced activity of Ca+2 sensing receptor (CASR)

Genetics

• associated with a defect in Ca+2 sensing receptor (CASR) in parathyroid cells defects in CASR are the cause of
  • familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]; in which the receptor has reduced activity. FHH is characterized by altered Ca+2 homeostasis. Affected individuals exhibit mild or modest hypercalcemia, relative hypocalciuria, & inappropriately normal PTH levels

More general terms

• familial hypocalciuric hypercalcemia

Database

• OMIM: https://mirror.omim.org/entry/145980
• OMIM: https://mirror.omim.org/entry/601199