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… (More)
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
2000
Review
2000
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
The calcium-sensing receptor (CASR) is a plasma membrane G protein coupled receptor that is expressed in the parathyroid hormone… (More)
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1999
1999
Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21… (More)
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Highly Cited
1996
Highly Cited
1996
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
BACKGROUND The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular… (More)
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Highly Cited
1995
Highly Cited
1995
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are… (More)
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Highly Cited
1995
Highly Cited
1995
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
Mice lacking the calcium–sensing receptor (Casr) were created to examine the receptor's role in calcium homeostasis and to… (More)
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Highly Cited
1994
Highly Cited
1994
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by very high serum calcium concentrations… (More)
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1993
1993
Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism.
PTH clearly plays a role in maintaining the hypercalcemia of familial benign hypercalcemia (FBH or familial hypocalciuric… (More)
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1984
1984
Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia).
The histologic characteristics of the parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia… (More)
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1984
1984
Vitamin D metabolism in familial benign hypercalcemia (hypocalciuric hypercalcemia) differs from that in primary hyperparathyroidism.
We compared serum concentrations of immunoreactive PTH and plasma levels of vitamin D metabolites in 11 patients with adenomatous… (More)
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1982
1982
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.
Four cases of neonatal severe primary hyperparathyroidism occurred in three families; familial hypocalciuric hypercalcemia was… (More)
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