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 a) 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

Database Correlations

OMIM correlations MORBIDMAP 601199

References

Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998