CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 Biomarker disease BEFREE Homozygous and heterozygous NSHPT are two among a spectrum of nine genotype/phenotype pairings relating to CASRs and NSHPT. 31778168 2020
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 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
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Case presentation We describe the clinical course of a newborn with a de novo R185Q mutation in the calcium-sensing receptor (CASR) gene, causing NSHPT. 30730839 2019
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review. 30407334 2018
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 Biomarker disease BEFREE Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. 30665551 2018
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 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
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672 2016
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE We sought to examine the clonality of parathyroid tissues resected from a patient with NSHPT and biallelic CASR mutations. 25828954 2015
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C) or neonatal severe hyperparathyroidism (W718X) was assessed. 24517148 2014
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet. 24735972 2014
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy. 24763815 2014
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. 24854525 2014
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 CausalMutation disease CLINVAR A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. 24854525 2014
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, more often induced by homozygous inactivating mutations of the calcium-sensing receptor gene. 23891851 2013
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE However, here, we report a case of neonatal severe hyperparathyroidism (NSHPT) in which the truncated CaR lacks any transmembrane domain (CaR(R392X)), in effect a full CAR 'knockout'. 23612447 2013
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 Biomarker disease BEFREE Our findings provide additional support for the implication of CASR gene in the FHH/NSHPT pathogenesis. 21667241 2012
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Biallelic CASR mutations cause neonatal severe hyperparathyroidism, a life-threatening condition that presents within days of life with marked hypercalcemia, respiratory distress, failure to thrive, and skeletal demineralization. 22989537 2012
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 Biomarker disease GENOMICS_ENGLAND A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. 22620673 2012
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE NSHPT was associated with a large proportion of truncating CaSR mutations that occurred in the homozygous or compound heterozygous state. 22422767 2012
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). 21468522 2011
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE The aim of the study was to characterize the CaSR mutations causing neonatal severe hyperparathyroidism in a consanguineous family. 20631026 2010
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Mutations that inactivate one allele of the gene encoding the calcium sensing receptor (CaSR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations cause neonatal severe hyperparathyroidism. 19789209 2009
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Inactivating mutations in the calcium-sensing receptor (CaSR) gene cause neonatal severe hyperparathyroidism and familial hypocalciuric hypercalcemia (FHH). 18796518 2008
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease UNIPROT Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. 17555508 2007
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation disease BEFREE Only three heterozygous de novo inactivating mutations of CaSR causing NSHPT have been described. 17555508 2007