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 25 free, full-text research articles on human participants. First 3 results:

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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A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.
 

Author(s): Alberto Falchetti, Alessia Gozzini, Annalisa Terranegra, Laura Soldati, Giuseppe Vezzoli, Gigliola Leoncini, Francesca Giusti, Francesco Franceschelli, Laura Masi, Annalisa Tanini, Loredana Cavalli, Maria Luisa Brandi

Journal: Eur. J. Endocrinol.. 2012 May;166(5):933-40.

 

Familial hypocalciuric hypercalcemia (FHH) syndrome is a rare benign condition, inherited as an autosomal dominant trait, in which inactivating mutations of the calcium-sensing receptor (CASR) gene affects the body's ability to regulate calcium homeostasis. Its outcome is featured ...

Last Updated: 1 May 2012

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New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
 

Author(s): Luiza Souza Rodrigues, Ana Carolina Arias Cáu, Luciane Zgoda Bussmann, Gabriela Bastida, Oscar H Brunetto, Pedro Henrique Silveira Corrêa, Regina Matsunaga Martin

Journal: Arq Bras Endocrinol Metabol. 2011 Feb;55(1):67-71.

 

A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The ...

Last Updated: 6 Apr 2011

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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: 1 Apr 2014

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