Familial hypocalciuric hypercalcemia

Common Name(s)

Familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia (FHH) is a benign, inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). Affected individuals usually do not have any signs or symptoms of the condition, and hypercalcemia is often diagnosed incidentally.  In some individuals, weakness, fatigue, thought disturbance, and/or excessive thirst (polydipsia) have been reported. FHH is usually caused by mutations in the CASR gene, although abnormalities in other, unidentified genes have been documented. It is inherited in an autosomal dominant manner. Treatment is typically considered unnecessary because it is a benign condition. FHH can be difficult to distinguish from primary hyperparathyroidism, for which parathyroidectomy is typically performed; individuals with FHH are typically advised to avoid parathyroidectomy.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 hypocalciuric hypercalcemia" returned 27 free, full-text research articles on human participants. First 3 results:

Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
 

Author(s): Geoffrey N Hendy, David E C Cole

Journal: J. Clin. Endocrinol. Metab.. 2013 Dec;98(12):4666-9.

 

Last Updated: 6 Dec 2013

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Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR).
 

Author(s): Niels Frederik Breum Jakobsen, Lars Rolighed, Peter H Nissen, Leif Mosekilde, Lars Rejnmark

Journal:

 

Familial hypocalciuric hypercalcemia (FHH) is often due to inactivating variants in the calcium-sensing receptor (CASR) gene causing chronically elevated plasma calcium levels with inappropriately normal or elevated parathyroid hormone levels. In patients with primary hyperparathyroidism, ...

Last Updated: 29 Aug 2013

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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
 

Author(s): M Andrew Nesbit, Fadil M Hannan, Sarah A Howles, Anita A C Reed, Treena Cranston, Clare E Thakker, Lorna Gregory, Andrew J Rimmer, Nigel Rust, Una Graham, Patrick J Morrison, Steven J Hunter, Michael P Whyte, Gil McVean, David Buck, Rajesh V Thakker

Journal: Nat. Genet.. 2013 Jan;45(1):93-7.

 

Adaptor protein-2 (AP2), a central component of clathrin-coated vesicles (CCVs), is pivotal in clathrin-mediated endocytosis, which internalizes plasma membrane constituents such as G protein-coupled receptors (GPCRs). AP2, a heterotetramer of α, β, μ and σ subunits, links clathrin ...

Last Updated: 26 Dec 2012

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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 hypocalciuric hypercalcemia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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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: 29 Nov 2014

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