Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia (FHH) (also known as familial benign hypercalcemia because it is generally asymptomatic and does not require treatment), whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia or Type 5 Bartter syndrome.
Mutations that inactivate a CaSR gene cause Familial hypocalciuric hypercalcemia (FHH) (also known as Familial Benign Hypercalcemia because it is generally asymptomatic and does not require treatment), when present in heterozygotes. Other mutations that activate CASR are the cause of autosomal dominant hypocalcemia or Type 5 Bartter syndrome.