KL, klotho, 9365

N. diseases: 332; N. variants: 20
Disease: Hyperphosphatemia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 GeneticVariation disease BEFREE Our findings indicate that endotoxaemia is associated with hypocalcaemia and hyperphosphataemia and a disturbed FGF23-klotho-vitamin D signaling. 30133162 2019
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 GeneticVariation disease BEFREE These findings provide a new loss-of-function variant in the human <i>KL</i> gene, suggesting that genetic determinants might be associated to clinical resistant hyperphosphatemia. 31013726 2019
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 AlteredExpression disease BEFREE The prevalence of high FGF23 levels (≥95th percentile) was 60% in CKD and 42% in CKD-T patients, despite a low prevalence of hyperphosphatemia and normal Klotho levels. 28795324 2018
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE Hyperphosphatemia with subsequent vascular calcification is a hallmark of klotho-hypomorphic mice, which are characterized by rapid development of multiple age-related disorders and early death. 29780355 2018
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 GeneticVariation disease BEFREE Collectively, mice with a deletion of PTH1R alone in proximal tubules results in only minor changes in phosphate regulation, whereas deletion of both PTH1R and Klotho leads to a severe disturbance, including hyperphosphatemia with increased sodium/phosphate cotransporter expression in BBM. 29993278 2018
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 AlteredExpression disease BEFREE Uremic rats on a high-phosphate (HP) diet presented hyperphosphatemia with marked elevation of FGF23 and an increased fractional excretion of phosphate (P) that was associated with a marked reduction of Klotho expression and an increase in FGFR1. 28515153 2017
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE <i>α</i>Klotho (<i>α</i>KL) regulates mineral metabolism, and diseases associated with <i>α</i>KL deficiency are characterized by hyperphosphatemia and vascular calcification (VC). 27837149 2017
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 GeneticVariation disease BEFREE Some genetic variations of Klotho have been reported as a risk factor for calcification and hyperphosphatemia in chronic kidney disease. 29190606 2017
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE In contrast, mutations in galactosamine:polypeptide N-acetyl-galactosaminyltransferase, responsible for O-glycosylation of FGF23, or in klotho, a cofactor for FGF23 signalling result in hyperphosphatemia. 25165185 2014
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE The phosphate-regulating hormone fibroblast growth factor-23 (FGF23) was discovered through studies of rare hypophosphatemic disorders, whereas Klotho, which subsequently turned out to be a co-receptor for FGF23, was identified in a mouse model showing hyperphosphatemia and multiple aging-like traits. 25498378 2014
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE Klotho-hypomorphic mice (kl/kl mice) suffer from severe growth deficits, rapid aging, hyperphosphatemia, hyperaldosteronism, and extensive vascular and soft tissue calcification. 23298834 2013
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 GeneticVariation disease BEFREE Stanniocalcin 2 is associated with ectopic calcification in α-klotho mutant mice and inhibits hyperphosphatemia-induced calcification in aortic vascular smooth muscle cells. 22285620 2012
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE Mice lacking either FGF-23 or Klotho show hyperphosphatemia in addition to developing multiple aging-like phenotypes, which can be rescued by resolving phosphate retention. 21496980 2011
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 AlteredExpression disease BEFREE Hypophosphatemia as a result of an increase in urinary phosphate wasting after activation of the FGF23-Klotho system is a common phenomenon, observed in both animal and human studies, whereas suppression of the FGF23-Klotho system leads to the development of hyperphosphatemia. 21406293 2011
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE CKD can be seen as a state of hyperphosphatemia-induced accelerated aging associated with Klotho deficiency. 21346722 2011
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE Disruption of Klotho results in a complex bone phenotype and hyperphosphatemia, the converse phenotype of X-linked hypophosphatemia. 19952276 2010
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE The aging-like phenotypes in Klotho-deficient or FGF23-deficient mice can be rescued by resolving hyperphosphatemia with dietary or genetic manipulation, suggesting a novel concept that phosphate retention accelerates aging. 19626341 2010
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE These findings suggest that the elevated alpha-Klotho level mimics aspects of the normal response to hyperphosphatemia and implicate alpha-Klotho in the selective regulation of phosphate levels and in the regulation of parathyroid mass and function; they also have implications for the pathogenesis and treatment of renal osteodystrophy in patients with kidney failure. 18308935 2008
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease CTD_human A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 Biomarker disease BEFREE Recent studies have shown that Klotho mice and Fgf23 mice exhibit identical phenotypes including hyperphosphatemia and hypercalcemia in addition to the aging-like syndrome. 16775459 2006
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 GeneticVariation disease BEFREE Disruption of the Klotho gene in mice is associated with hyperphosphataemia and decreased lifespan. 15930998 2005
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		0.400 GeneticVariation disease BEFREE The klotho gene is involved in the development of a syndrome resembling human ageing, and klotho mutant mice show abnormal calcium/vitamin D metabolism, developing hyperphosphataemia and vascular calcification. 12771308 2003