Familial benign hypercalcemia

Common Name(s)

Familial benign hypercalcemia

Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH; {168450}) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by {17:Hannan et al., 2010}). Genetic Heterogeneity of Hypocalciuric Hypercalcemia Familial hypocalciuric hypercalcemia type II (HHC2; {145981}) is caused by mutation in the GNA11 gene ({139313}) on chromosome 19p13, and HHC3 ({600740}) is caused by mutation in the AP2S1 gene ({602242}) on chromosome 19q13.
 

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Condition Specific Organizations

Following organizations serve the condition "Familial benign hypercalcemia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial benign hypercalcemia" returned 7 free, full-text research articles on human participants. First 3 results:

Different vitamin D substrate-product relationship after oral vitamin D supplementation in familial benign hypercalcemia, primary hyperparathyroidism, and healthy controls.
 

Author(s): Maurizio Bevilacqua, Marco Invernizzi, Velella Righini, Stefano Carda, Carlo Cisari

Journal: Eur. J. Endocrinol.. 2011 May;164(5):833-8.

 

In healthy subjects and in patients with primary hyperparathyroidism (PH), the administration of a low dose of 25(OH)D (25 μg/day) increases the serum levels of both 25(OH)D and 1,25(OH)(2)D. It is unknown whether this relationship is present in patients affected by familial benign ...

Last Updated: 31 Dec 1969

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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
 

Author(s): Seong Ill Woo, Hyunju Song, Kyung Eun Song, Dae Jung Kim, Kwan Woo Lee, Se Joong Kim, Yoon-Sok Chung

Journal: Yonsei Med. J.. 2006 Apr;47(2):255-8.

 

Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifesting a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) ...

Last Updated: 31 Dec 1969

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Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
 

Author(s): S E Lloyd, A A Pannett, P H Dixon, M P Whyte, R V Thakker

Journal: Am. J. Hum. Genet.. 1999 Jan;64(1):189-95.

 

Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21-q24 and belongs to family C of the superfamily of G-protein coupled receptors that includes those for metabotropic glutamate, certain pheromones, and gamma-amino ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial benign hypercalcemia" returned 1 free, full-text review articles on human participants. First 3 results:

Familial benign hypercalcemia--from clinical description to molecular genetics.
 

Author(s): H Heath

Journal: West. J. Med.. 1994 Jun;160(6):554-61.

 

Familial benign hypercalcemia (or familial hypocalciuric hypercalcemia), a syndrome of lifelong hypercalcemia inherited as an autosomal dominant trait, is distinct from the multiple endocrine neoplasia syndromes and other forms of inherited parathyroid disease. Familial benign hypercalcemia ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Studies of Inherited Diseases of Metabolism
 

Status: Recruiting

Condition Summary: Hypercalcemia; Hyperparathyroidism; Multiple Endocrine Neoplasia

 

Last Updated: 28 Jun 2018

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