Familial hypocalciuric hypercalcemia classification: Difference between revisions
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==Classification== | ==Classification== | ||
Three genetically heterogeneous variants are reported so far for familial hypocalciuric hypercalcemia. | 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 1 - due to loss-of-functional mutations of the calcium-sensing receptor (encoded by CASR). | ||
Type 3 - associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter calcium-sensing receptor endocytosis<ref name="urlMutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia — NEJM">{{cite web |url=http://www.nejm.org/doi/full/10.1056/NEJMoa1300253#t=article |title=Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia — NEJM |format= |work= |accessdate=}}</ref><ref name="urlMutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605788/ |title=Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 |format= |work= |accessdate=}}</ref>. | * Type 2 - unknown cause. | ||
* Type 3 - associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter calcium-sensing receptor endocytosis<ref name="urlMutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia — NEJM">{{cite web |url=http://www.nejm.org/doi/full/10.1056/NEJMoa1300253#t=article |title=Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia — NEJM |format= |work= |accessdate=}}</ref><ref name="urlMutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605788/ |title=Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 |format= |work= |accessdate=}}</ref>. | |||
==References== | ==References== | ||
Revision as of 18:31, 21 September 2017
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Familial hypocalciuric hypercalcemia Microchapters |
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Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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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[1][2].