|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
FHH is usually associated with heterozygous inactivating mutations of the CaR gene, whereas NSHPT is usually due to homozygous inactivation of the CaR gene.
|
15579740 |
2004 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (heterozygous CASR gene mutation L173P) and a mutation in the pancreatic secretory trypsin inhibitor gene (SPINK1) (N34S).
|
16497624 |
2006 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
|
8675635 |
1995 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results confirm that FHH can be caused by non-conservative missense mutations in the CASR gene leading to abnormal calcium homeostasis.
|
10885494 |
2000 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hypocalciuric hypercalcemia (FHH or FBHH) and neonatal severe primary hyperparathyroidism (NSHPT) reflect heterozygous or homozygous mutations, respectively, in the calcium-sensing receptor.
|
12412776 |
2002 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis.
|
17284438 |
2007 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have shown that the c.772_773delGTinsA mutation causes a significant alteration of CaSR function leading to features of FHH in an affected young infant since the first months of life.
|
27087013 |
2016 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Given her family history, genetic testing was pursued and discovered a novel pathogenic mutation of the CaSR gene confirming the diagnosis of FHH type 1.
|
31641801 |
2020 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the calcium-sensing receptor (CaR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
|
7717399 |
1995 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.
|
7726161 |
1995 |