|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study reinforces the fact that patients with homozygous inactivation of the CaR gene may present with severe hypercalcemia in different phases of life.
|
15579740 |
2004 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings confirm the role of CASR gene mutational analysis to offer a valuable addition for the recognition of FHH in hypercalcemic patients not yet characterized for a positive familial history of hypercalcemia, the only condition that identifies CASR gene mutations in hypercalcemia.
|
22315359 |
2012 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The phenotypic expression of the CASR mutations (as determined by the degree of hypercalcemia) did not influence the levels of P-1,25(OH)(2)D.
|
18787045 |
2008 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.
|
26855056 |
2016 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pancreatitis in primary hyperparathyroidism-related hypercalcaemia is not associated with mutations in the CASR gene.
|
17853337 |
2007 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Increased phenotypic expression of CASR mutations in terms of hypercalcaemia was associated with higher lumbar spine bone mineral density, but not with bone markers.
|
19250271 |
2009 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigate a unique variant of familial hypercalcemia, unrelated to multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndromes, with hypercalcemia due to a point mutation in the intracellular part of the calcium receptor (CaR) gene.
|
12161540 |
2002 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
|
25292184 |
2014 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations that inactivate the Ca-sensing receptor gene FHH have been described as an autosomal dominant disorder, but recently milder mutations in the CASR have been shown to cause hypercalcemia when homozygous.
|
20601885 |
2010 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of a novel CASR gene mutation established the basis of the hypercalcemia in the kindred.
|
17473068 |
2007 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function calcium-sensing receptor (CAR) mutations cause elevated parathyroid hormone (PTH) secretion and hypercalcaemia.
|
23612447 |
2013 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, like the missense mutations that have been characterized to date in families with FHH, the Alu insertion in this family is a loss-of-function mutation that produces hypercalcemia by reducing the number of normally functional CASRs on the surface of parathyroid and kidney cells.
|
9109436 |
1997 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism).
|
28122587 |
2017 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a case that presented with asymptomatic, familial hypercalcemia but low PTH and normal (non-low) urinary calcium excretion found to be secondary to a novel pathogenic inactivating mutation of the CaSR gene.
|
31641801 |
2020 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We expanded the spectrum of CASR variants in hypercalcemia with 18 novel variants, and suggest that the location of the CASR variant may affect calcium excretion as determined by the CCCR.
|
31433865 |
2019 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria.
|
11231970 |
2001 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition to its beneficial effects in primary and secondary hyperparathyroidism, cinacalcet may open new therapeutic avenues in the management of a subset of patients with severe hypercalcaemia due to inactivating mutations of the CaR.
|
16882283 |
2006 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A positive allosteric modulator of CaSR, cinacalcet, which targets its transmembrane domain, overcame this autoantibody effect and successfully corrected the hypercalcemia in this patient.
|
30996138 |
2019 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Conclusions Patients with CASR mutations may not fit the classic clinical pictures of hypercalcemia with hypocalciuria or hypocalcemia with hypercalciuria.
|
30407919 |
2019 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
DESIGN AND PATIENTS CaSR gene mutations were analysed and clinical and biochemical parameters evaluated in 139 consecutive outpatients presenting with hypercalcaemia and suspected of having HPT.
|
21521328 |
2011 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Parathyroidectomy may also be appropriate in disorders with generalized resistance to Ca2+o owing to inactivating CaR mutations in the following special circumstances: in selected families with FHH in which there is unusually severe hypercalcemia, frankly elevated PTH levels, or atypical features such as hypercalciuria; in cases of NSHPT with severe hypercalcemia and hyperparathyroidism; and in the occasional mild case of homozygous FHH owing to CaR mutations that confer mild-to-moderate resistance to Ca2+o that escapes clinical detection in the neonatal period.
|
11033758 |
2000 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The detection of CaSR gene mutations is suitable to differentiate states of hypercalcemia and may help to avoid invasive procedures such as parathyroidectomies.
|
27926951 |
2017 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.
|
19694204 |
2009 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequencing analysis of the calcium sensing receptor gene revealed a novel heterozygous mutation (3193delA) in the patient and his family members with hypercalcemia, but one with normocalcemia.
|
19423460 |
2009 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This suggested that mutant CaSR in this patient had some residual activity and hypercalcaemia was not so severe as to be fatal.
|
10468915 |
1999 |