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 |
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 |
To illustrate investigations and management of parathyroid-related hypercalcaemia, we present a selection of distinct cases of PHPT due to eutopic and ectopic parathyroid adenomas, as well as a case with a syndromic form of PHPT (multiple endocrine neoplasia type 1), and a case with FHH type 1 due to a CASR inactivating mutation.
|
31797261 |
2019 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An analysis of CaSR mutations identified in >300 hypercalcaemic and hypocalcaemic probands revealed five 'disease-switch' residues (Gln27, Asn178, Ser657, Ser820 and Thr828) that are affected by FHH and ADH mutations.
|
30052933 |
2018 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The human calcium-sensing receptor (<i>CASR</i>) is the key controller of extracellular Ca<sub>o</sub><sup>2+</sup> homeostasis, and different mutations in the <i>CASR</i> gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe hyperparathyroidism, autosomal-dominant hypocalcemia (ADH), and Bartter's syndrome type V. In this study, two generations of a family with biochemically and clinically confirmed ADH who suffered severe muscle pain, arthralgia, tetany, abdominal pain, and fatigue were evaluated for mutations in the <i>CASR</i> gene.
|
29743878 |
2018 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α<sub>11</sub>, or adaptor-related protein complex 2, sigma 1 subunit.
|
30449544 |
2018 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Patients with familial hyperparathyroidism and low urinary calcium excretion may have familial hypocalciuric hypercalcemia (FHH) with mutations in one of three genes: the calcium-sensing receptor (CaSR) defining FHH-type 1, the adaptor-related protein complex 2 (AP2S1) related to FHH-type 3 or the G-protein subunit alpha11 (GNA11) associated with FHH-type 2.
|
28176280 |
2017 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 33 CASR-negative patients with suspected FHH, we found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His).
|
27913609 |
2017 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of the patient's <i>CaSR</i> gene revealed a new missense mutation (c.2279T>A) in exon 7, leading to the damaging amino change (p.I760N) in the mature CaSR protein, confirming the diagnosis of FHH.
|
28690912 |
2017 |
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 |
CausalMutation
|
disease |
CLINVAR |
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.
|
27390877 |
2016 |
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 |
The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene.
|
27418061 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism (PHPT) but not curable by surgery; FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively.
|
26963950 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene.
|
28222409 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The common NHPT CaSR mutants R185Q and R227L were compared with 15 mutants causing only FHH in the heterozygous state.
|
27666534 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
UNIPROT |
Structural mechanism of ligand activation in human calcium-sensing receptor.
|
27434672 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.
|
27390877 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Structural mechanism of ligand activation in human calcium-sensing receptor.
|
27434672 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, CASR mutations are only detected in ≤70% of FHH and ADH cases, referred to as FHH type 1 and ADH type 1, respectively, and studies in other FHH and ADH kindreds have revealed these disorders to be genetically heterogeneous.
|
27647839 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic causes of hypercalcemia involve familial hypocalciuric hypercalcemia associated with an inactivation mutation in the calcium sensing receptor gene and/or a mutation in the CYP24A1 gene.
|
26596315 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This heterozygous loss-of-function mutation in the CaSR gene causes reduced CaSR sensing ability resulting in the clinical manifestation of FHH.
|
26158657 |
2016 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial Hypocalciuric Hypercalcemia (FHH) is a rare and almost always asymptomatic condition, due to an autosomal dominant mutation of the calcium-sensing receptor gene.
|
25444087 |
2015 |
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.
|
26161261 |
2015 |