PTH, parathyroid hormone, 5741

N. diseases: 528; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE The present study is the first to indicate that the polymorphism of PTH/PTHrP receptor gene is closely related to the extent of bone mass reduction in pHPT and that this polymorphism would be one of the genetic factors responsible for the severity of the pathological state of pHPT. 11014383 2000
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Primary hyperparathyroidism (HPT), most commonly due to parathyroid adenoma, is a disorder characterized by excessive secretion of PTH. 10704427 2000
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE This study was designed to evaluate the results of a series of patients with PHPT who underwent minimally invasive radioguided parathyroidectomy (MIRP) using very low dose (1 mCi) of TC-99m sestamibi (MIBI) without application of intraoperative parathyroid hormone (PTH) assay or frozen section analysis. 28192245 2017
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Cure rate was 88% in the normal PTH group, compared to 96% in classic PHPT (p = 0.02). 29134314 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE In conclusion, combination Cl/PO4 with ALP might be a low-cost, simple, available predictive marker of PHPT in Chinese individuals, particularly Chinese remote region where the method used to measure PTH cannot be done. 28687737 2017
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Primary hyperparathyroidism (PHP; serum calcium 2.75 mmol/L, PTH 226 pg/ml) had been the first clinical manifestation of MEN-2A in a female patient (aged 55 years) with a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. 16356097 2005
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Recently, normocalcemic (NC) and normohormonal (NH) variants of primary hyperparathyroidism (pHPT) have been described, with distinct biochemical profiles from the typical high serum calcium and parathyroid hormone (PTH) levels. 31511943 2020
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE In primary hyperparathyroidism (PHPT), hypersecretion of PTH leads to enhanced bone resorption and formation with increased risk of fracture. 15207766 2004
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE LNP patients had a milder form of pHPT (Ca<sup>2+</sup> 2.63 vs. 2.68 P < 0.05) with a smaller PTH and Ca<sup>2+</sup> drop post-operatively. 31773224 2020
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE In hypertensive PHPT, 24 hours systolic blood pressure was associated only with parathyroid hormone (PTH) levels (beta = 0.36, p = 0.04). aPWV was associated with retinal diameter (beta = -0.69, p = 0.003), but not with PTH. 30410012 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Primary hyperparathyroidism (HPT) is one of the most common endocrine disorders, defined by hypersecretion of parathormone. 24595969 2015
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Rapid intraoperative parathyroid hormone (ioPTH) monitoring measures postoperative reduction of parathyroid hormone (PTH) to predict surgical outcome in patients with primary hyperparathyroidism, and therefore contributes to the change of parathyroidectomy to a minimally invasive procedure. 29357735 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE In recent years, patients with primary hyperparathyroidism (PHPT) are being diagnosed earlier, with milder elevations in parathyroid hormone (PTH) and serum calcium. 27302092 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Significant lower BMD in the distal radius with similar PTH levels was found in the minor allele homozygotes (GG) compared to heterozygotes and major allele homozygotes in both OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs in those with PHPT compared to control subjects. 22185226 2011
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE Patients (Paris: 65 with FHH, 85 with PHPT; Aarhus: 38 with FHH, 55 with PHPT) were adults with hypercalcemia and PTH concentration within normal range. 29727008 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 GeneticVariation disease BEFREE This is a retrospective cohort study of 2,654 patients with primary hyperparathyroidism who underwent parathyroidectomy with intraoperative parathyroid hormone monitoring at a single institution from 1999 to 2014. 30975497 2019
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE Primary hyperparathyroidism is excluded by the immunoradiometric assay for parathyroid hormone, which is suppressed. 8060769 1994
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE We suggest that sustained stimulation of PTH receptors present in brain, muscle, and hematopoietic cells have to be considered as one independent, important cause of molecular disease in PHPT leading to profound alterations in gene expression that may help explain symptoms like muscle fatigue, cardiovascular pathology, and precipitation of psychiatric illness. 17227961 2007
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE Only in pHPT was a negative correlation of borderline significance between serum parathormone (PTH) and number of aberrated chromosomes noticed (tau=-0.258, p=0.07). 17514620 2007
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (PHPT) is characterised by increased production of parathyroid hormone (PTH) resulting in elevated serum calcium levels. 21698093 2011
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE The set point for parathyroid hormone (PTH) secretion is increased in patients with primary hyperparathyroidism, possibly because of receptor defect(s). 9854589 1998
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE Primary hyperparathyroidism (pHPT) is a common endocrine disease characterized by excessive secretion of parathyroid hormone and an increased level of serum calcium. 27071708 2016
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE Primary hyperparathyroidism is commonly caused by excess production of parathyroid hormone from sporadic parathyroid adenomas. 29982334 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE In this short pilot investigation, 1 week of maximally titrated ACEi did not impact PTH in participants without P-HPT, but resulted in a modest and marginally significant reduction of PTH but not calcium, among participants with P-HPT. 28808443 2017
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
0.200 Biomarker disease BEFREE Thus, we studied 29 patients with FBH from 11 families, 29 age- and sex-matched controls, and 42 patients with primary hyperparathyroidism (1 degree HPT), measuring PTH with a highly sensitive two-site immunochemiluminometric assay and the hypercalcemic tumor factor PTH-related peptide (PTHrP) with an extraction/concentration RIA. 1997510 1991