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Familial benign hypercalcemia

Known as: Familial Hypocalciuric Hypercalcemia 
A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and… 
National Institutes of Health

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Familial hyperparathyroidismHereditary Diseases

Broader (1)

Hyperparathyroidism

Narrower (1)

Hypocalciuric hypercalcemia, familial, type 1

Papers overview

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Review
2016
Review
2016
Familial hyperparathyroidism syndromes
2014
2014
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
CONTEXT Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder with three known subtypes: FHH1, FHH2, and… 
Review
2005
Review
2005
The importance of calcium-binding proteins in childhood diseases.
2005
2005
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
Calcium-sensing receptor gene (CASR) mutations that alter the function of the G protein coupled Ca (2+)-sensing receptor are… 
Highly Cited
2002
Highly Cited
2002
Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality?
A middle-aged woman presented with a history of constipation, easy fatigue, depressive mood, lassitude, polydipsia, and polyuria… 
1996
1996
Ca2+-Receptor-Mediated Regulation of Parathyroid and Renal Function
Review
1995
Review
1995
The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing.
The parathyroid cell detects changes in the extracellular ionized calcium concentration (Ca2 + o) with exquisite sensitivity, but… 
1991
1991
Calcium regulation of parathyroid and C cell function in familial benign hypercalcemia
The roles of parathyroid hormone (PTH) and calcitonin (CT) in the pathogenesis of familial benign hypercalcemia (FBH, or… 
1989
1989
Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention.
The case of a premature infant with the onset of hypercalcemia and apparent primary hyperparathyroidism in the immediate neonatal… 
1987
1987
Distribution of serum calcium values in patients with familial benign hypercalcemia (hypocalciuric hypercalcemia): evidence for a discrete genetic defect.
One group has reported hypocalcemic individuals in families affected with familial benign hypercalcemia (FBH), suggesting either… 
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