|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia.
|
15963484 |
2005 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With a hypercalcemic family member, mutation detection rate in FHH rose to seven of eight (87%), whereas only one of nine sporadic cases was positive, and none of the three FIHP cases had detectable CASR mutations.
|
20164288 |
2010 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
|
17473068 |
2007 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.
|
9011580 |
1997 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These observations support that inactivating mutations in the CASR gene in bone cells in FHH may protect against forearm bone loss.
|
21785908 |
2011 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
PATIENTS, DESIGN AND MEASUREMENTS: The CaR gene from FHH family members was assessed for mutations by direct DNA sequencing and mutations were confirmed by restriction enzyme analysis.
|
16649980 |
2006 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia.
|
11763315 |
2001 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
|
17698911 |
2007 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By contrast, more common heterozygous CASR mutations are generally associated with a benign variant of PHPT termed familial hypocalciuric hypercalcemia.
|
22989537 |
2012 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.
|
8878438 |
1996 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Phenocopies of FHH or ADH are due to circulating CASR inactivating or activating autoantibodies, respectively.
|
20374733 |
2009 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation.
|
12580936 |
2003 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Three adjacent serines in the extracellular domains of the CaR are required for L-amino acid-mediated potentiation of receptor function.
|
12095982 |
2002 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.
|
7726161 |
1995 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.
|
28740527 |
2019 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FHH is caused by inactivating mutations in the calcium sensing receptor (CASR) gene leading to a general calcium-hyposensitivity, compensatory hypercalcaemia and hypocalciuria.
|
21986511 |
2011 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, individuals who are homozygous for CaSR mutations have neonatal severe hyperparathyroidism (NSHPT), which unlike the relatively benign and asymptomatic FHH can be fatal without parathyroidectomy.
|
15241688 |
2004 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
|
7493018 |
1995 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the Ca(2+)-sensing receptor (CaSR) gene was previously identified in a Japanese family with familial hypocalciuric hypercalcemia.
|
8934212 |
1996 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
|
7916660 |
1993 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
|
17473068 |
2007 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
|
22422767 |
2012 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report two novel CASR mutations affecting the same amino acid (p.N802); one causes ADH and the other atypical FHH.
|
23169696 |
2013 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we analyzed the CaSR gene in a Korean family with familial hypocalciuric hypercalcemia (FHH).
|
26386835 |
2016 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The carboxyl terminus of the human calcium receptor. Requirements for cell-surface expression and signal transduction.
|
9395465 |
1997 |