Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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