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

Familial hypocalciuric hypercalcemia is classified into three types. Type-1:loss-of-functional mutations of the calcium-sensing receptor Type-2: unknown cause Type-3: associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter calcium-sensing receptor endocytosis

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.