Familial hypocalciuric hypercalcemia

Definition:

Familial hypocalciuric hypercalcemia (HHC), an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion. HHC is a genetically heterogeneous disorder with three variants. HHC1 is due to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing receptor endocytosis.

References:

[1]. K Aida, et al. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab. 1995 Sep;80(9):2594-8. [Content Brief]

[2]. M Andrew Nesbit, et al. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013 Jun 27;368(26):2476-2486. [Content Brief]

[3]. M Andrew Nesbit, et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013 Jan;45(1):93-7. [Content Brief]

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