This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis.

An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.

Parathormone-independent increased renal tubular Ca reabsorption, Parathormone-independent increased renal tubular Ca2+ reabsorption

HP:0003529