Familial hypocalciuric hypercalcemia classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

There is no established system for the classification of familial hypocalciuric hypercalcemia.

Classification

Classification

Three genetically heterogeneous variants are reported so far for familial hypocalciuric hypercalcemia.

Type 1 - due to loss-of-functional mutations of the calcium-sensing receptor (encoded by CASR).

Type 2 - unknown cause.

Type 3 - associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter calcium-sensing receptor endocytosis.