CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Hypocalcemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Conclusions Patients with CASR mutations may not fit the classic clinical pictures of hypercalcemia with hypocalciuria or hypocalcemia with hypercalciuria. 30407919 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Based on this analysis, we suspected a hereditary form of hypocalcaemia and performed genetic testing by polymerase chain reaction and Sanger sequencing of the coding regions and intron boundaries of the CaSR gene. 28741586 2017
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium sensing receptor gene (CaR) and characterised by mostly asymptomatic mild to moderate hypocalcaemia with low, inappropriately serum concentration of PTH. 25766501 2015
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE These studies of a mouse model with an activating CaSR mutation demonstrate NPS 2143 to normalize the gain-of-function causing ADH1 and improve the hypocalcemia associated with this disorder. 26052899 2015
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review. 25039540 2014
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE We also postulated that mutations effecting Gα11 gain of function, like the mutations effecting calcium-sensing receptor gain of function that cause autosomal dominant hypocalcemia type 1, may lead to hypocalcemia. 23802516 2013
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE To describe a case of hypocalcemia in a patient with a gain-of-function mutation in the calcium-sensing receptor that was undetected until adulthood and successfully treated with recombinant parathyroid hormone. 23186954 2013
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Activating mutations of the calcium-sensing receptor (CASR) gene are associated with autosomal dominant hypocalcemia (ADH) characterized by benign hypocalcemia, inappropriately low (PTH) levels and mostly hypercalciuria. 23009664 2013
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene. 21471599 2011
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Naturally occurring mutations in the calcium-sensing receptor gene (CASR) cause hypocalcaemia or hypercalcaemia, and molecular diagnosis of these mutations is clinically important. 17320849 2007
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE The gain of function mutations of the calcium-sensing receptor are associated with autosomal dominant hypocalcaemia (ADH), a disease characterised by a generally asymptomatic hypocalcaemia, inappropriately high urinary calcium excretion and normal PTH levels. 17039419 2006
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 AlteredExpression phenotype LHGDN A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection. 15960151 2005
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 Biomarker phenotype BEFREE The extracellular calcium-sensing receptor (CaSR) plays a pivotal role in the regulation of extracellular calcium such that abnormalities, which result in a loss or gain of function, lead to hypercalcemia or hypocalcemia, respectively, in patients. 15347804 2004
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Therefore, careful monitoring of urinary Ca excretion before and during treatment of PTH-deficient hypoparathyroidism is very important, and screening of CaSR mutation should be considered in patients with relative hypercalciuria or with a family history of hypocalcemia. 12733714 2003
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Gain-of-function mutations of the calcium-sensing receptor (CaR) gene cause autosomal dominant and/or sporadic hypocalcemia with hypercalciuria. 12107202 2002
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype LHGDN A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. 12050233 2002
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Hypocalcemia segregated with the CaR mutation, but no phenotype-genotype relationships were identified. 11701698 2001
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE We experienced two patients (proband and her daughter) with hypocalcemia caused by a missense mutation of the CaSR gene. 11289719 2001
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 Biomarker phenotype CTD_human Activating mutations of the calcium-sensing receptor: management of hypocalcemia. 11701698 2001
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Inherited abnormalities of the CASR gene located on chromosome 3p13.3-21 can cause either hypercalcemia or hypocalcemia depending upon whether they are inactivating or activating, respectively. 11013439 2000
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Mutations of the CASR gene alter the set-point for extracellular ionised calcium [Ca2+]o and cause familial hypercalcaemia or hypocalcaemia. 10023897 1999
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Among 11 missense mutations of CaSR reported to date in patients with ADH or sporadic hypocalcemia, functional properties of 8 mutant CaSRs were characterized. 9920108 1999
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE In addition, gain of function CaSR mutations have been observed in a novel familial syndrome of hypocalcaemia with hypercalciuria. 9920407 1998
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 GeneticVariation phenotype BEFREE Gain-of-function mutations in the calcium-sensing receptor are associated with a familial syndrome of hypocalcemia with hypercalciuria that needs to be distinguished from hypoparathyroidism. 8813042 1996
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.500 Biomarker phenotype CTD_human Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. 7874174 1994