Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE Three indices of circulating parathyroid hormone (PTH) activity were compared between two groups: the first a group of 23 patients from three large kindreds with autosomal dominant hypercalcemia without hypercalciuria [familial hypocalciuric hypercalcemia (FHH)] and the second a group of 64 patients with typical primary hyperparathyroidism (1HPT) manifesting comparable hypercalcemia. 233692 1978
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE An activating mutation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP) was recently found in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two hormones. 8703170 1996
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE The present study was undertaken to clarify the pharmacokinetics of 22-oxa-1,25-dihydroxyvitamin D3 (22-oxa-1,25-(OH)2D3, OCT), a vitamin D3 analogue with little calcemic activity, and its effect on the transcription of parathyroid hormone-related peptide (PTHRP) gene in nude mice bearing a human carcinoma (FA-6) associated with humoral hypercalcemia. 7798277 1994
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE From these results, we speculate that although the VDR gene polymorphism may affect the serum PTH level, it is not a risk factor for hypercalcemia in sarcoidosis. 11033842 2000
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE Hyperparathyroidism is associated with hypercalcemia and the excess of parathyroid hormone secretion; however, the alterations in molecular pattern of functional genes during parathyroid tumorigenesis have not been unraveled. 29659895 2018
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE We report a case of a 51-year-old male with a history of human immunodeficiency virus (HIV) infection, well-controlled on antiretroviral treatment, who presented with polyarthritis and hypercalcemia due to an elevated parathyroid-hormone-related peptide. 30042914 2018
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE Common features of this autosomal recessive condition included hypercalcemia with hypercalciuria, suppressed PTH and a high 25-OH-D<sub>3</sub>:24,25-(OH)<sub>2</sub>D<sub>3</sub> ratio. 30423445 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE Malignancies are the most common parathyroid hormone-independent cause of hypercalcemia. 30539882 2018
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 GeneticVariation disease BEFREE About 90% of PCas are hormonally active hypersecreting parathormone (PTH); consequently patients present with complications of severe hypercalcemia. 28157158 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Three of five relatives had mild hypercalcemia [s-Ca, 10.7-11.2 mg/dl (2.67-2.80 mmol/liter)] and detectable serum PTH [24.5-29.0 pg/ml (2.6-3.1 pmol/liter)]. 14602739 2003
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease CTD_human Idiopathic calcitriol-induced hypercalcemia. A new disease entity? 9382671 1997
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Biochemical abnormalities included hypercalcemia with elevated parathyroid hormone. 18729310 2008
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE The extensive chromatographic characterization of four parathyroid hormone (PTH)-like proteins in a human bronchial carcinoid tumour associated with humoral hypercalcaemia and severe osteitis fibrosa is described. 2548521 1989
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Antibody-mediated blockade of cluster of differentiation 47 (CD47)-thrombospondin-1 (TSP-1) interactions blocks osteoclast formation <i>in vitro</i> and attenuates parathyroid hormone (PTH)-induced hypercalcemia <i>in vivo</i> in mice. 30082316 2018
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Among patients with classic primary hyperparathyroidism (calcium and parathyroid hormone increased), progression was unrelated to the degree of hypercalcemia (calcium >11.5 mg/dL, hazard ratio 1.03, 95% confidence interval 0.85-1.25; 11.1-11.5 mg/dL, HR 1.07, 95% confidence interval 0.93-1.23; 10.5-11.0 mg/dL = reference). 30420089 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE We conclude that partial duplication of 2p can be associated with hypercalcaemia and hypercalciuria and hypothesise that the underlying mechanism is an increased extra-renal, parathyroid hormone-independent 25-hydroxyvitamin D 1α-hydroxylase activity, leading to raised amounts of 1,25-dihydroxyvitamin D. The increased enzymatic activity could possibly be caused by calcineurin B subunit-related macrophage stimulation. 26675490 2016
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease CTD_human Hyperphosphatemia modestly retards parathyroid hormone suppression during calcitriol-induced hypercalcemia in normal and azotemic rats. 12399635 2002
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE BACKGROUND Primary hyperparathyroidism is an endocrine disease characterized by excessive secretion of parathyroid hormone and hypercalcemia. 30834899 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Thus, PTH-dependent hypercalcemia can occur in the setting of either inherited, generalized resistance to Ca(o)2+ (i.e., FHH and NSHPT) or acquired tissue selective resistance of pathological parathyroid glands to Ca(o)2+ (e.g., PHPT). 12412774 2002
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE The differential diagnosis of hypercalcemia is subdivided into three broad categories: hyperproteinemia, PTH-mediated hypercalcemia, and non-PTH-mediated hypercalcemia. 8462259 1993
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Cases of severe PTH-independent hypercalcemia associated with hypercalciuria in infants should prompt genetic analysis of CYP24A1. 25446019 2015
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Cloning of the CaR has increased understanding of the normal control of mineral ion homeostasis and has clarified the pathophysiology of PTH-dependent hypercalcemia. 11033758 2000
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Usually, the concentration of PTH is frankly increased but can remain within the normal range, which is abnormal in the setting of hypercalcaemia. 27194212 2016
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Laboratory and imaging tests revealed severe hypercalcemia (5.8 mmol/l), suppressed parathyroid hormone (0.41 pmol/l), hypercalciuria (8.0 mmol/mmol creatinine), elevated 25-hydroxyvitamin D3 (over 600 nmol/l), and nephrocalcinosis. 23001465 2013
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.600 Biomarker disease BEFREE Parathyroid hormone-related peptide (PTHrP)-mediated hypercalcemia was confirmed in 11 of the 16 patients in whom elevated-serum level or positive immunohistochemistry of PTHrP was observed. 17183364 2007