Disease: Hypercalcemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Biallelic mutations in the CYP24A1 gene can lead to elevated levels of active vitamin D metabolites and, consequently, to hypercalcemia, hypercalciuria, nephrocalcinosis, and nephrolithiasis; however, monoallelic mutations have been associated only with milder phenotypes. 31288237 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Specific problems of living kidney donation associated with certain systemic (chronic hypercalcemia due to CYP24A1 gene mutations, primary hyperoxaluria, APRT deficiency) and renal (medullary sponge kidney, cystinuria, distal renal tubular acidosis, Dent's disease, Bartter syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis) Mendelian disorders that cause nephrolithiasis are also addressed. 30470867 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia. 30423445 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 Biomarker disease BEFREE CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype. 31188746 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia. 28874334 2018
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Mutations in CYP24A1 can cause both severe neonatal hypercalcemia and a less severe adult hypercalcemic syndrome. 27060335 2017
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass. 27639704 2017
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Mutations of the activating enzymes CYP2R1 and CYP27B1 cause lack of normal 1,25-(OH)<sub>2</sub>D<sub>3</sub> synthesis and result in rickets whereas mutations of the inactivating enzyme CYP24A1 cause build-up of excess 1,25-(OH)<sub>2</sub>D<sub>3</sub> and result in hypercalcemia, nephrolithiasis, and nephrocalcinosis. 29080636 2017
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE One patient sample with an elevated 25(OH)D:24,25(OH)<sub>2</sub>D ratio of 32 and hypercalcaemia who on genetic testing confirmed to have a biallelic mutation of CYP24A1. 28437713 2017
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE More recent evidence has identified loss of function mutations in CYP24A1 in association with hypercalcemia, hypercalciuria and nephrolithiasis in humans. 28093352 2017
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Biallelic loss-of-function mutations in CYP24A1 are associated with elevated serum levels of 1,25-dihydroxyvitamin D3 with consequent hypercalcemia and hypercalciuria and represent the most common form of idiopathic infantile hypercalcemia (IIH). 28324001 2017
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Mutations of the CYP24A1 gene can result in hypercalcemia, hyerpercalciuria, and nephrolithiasis, but disease severity is variable. 27129455 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE This study (1) confirms that CYP24A1 plays a causal role in some but not all cases of IIH (64%); (2) expands the spectrum of known CYP24A1 pathogenic mutations; (3) describes 2 hotspots detected in 50% of all Italian cases; and (4) emphasizes the importance of recognition and genetic diagnosis of CYP24A1 defects in infantile as well as adult hypercalcemia. 27394135 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 Biomarker disease BEFREE We describe a woman with CYP24A1 deficiency and recurrent gestational hypercalcemia. 27105398 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Recent work has identified a novel cause of non-PTH-mediated hypercalcemia that occurs when the degradation of 1,25(OH)<sub>2</sub>D is impaired as a result of mutations of the 1,25(OH)<sub>2</sub>D-24-hydroxylase cytochrome P450 (CYP24A1). 27588937 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Genetic causes of hypercalcemia involve familial hypocalciuric hypercalcemia associated with an inactivation mutation in the calcium sensing receptor gene and/or a mutation in the CYP24A1 gene. 26596315 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 Biomarker disease BEFREE We measured 25(OH)D/24,25(OH)2D in 91 healthy patients and 34 patients with clinically suspected CYP24A1-mediated hypercalcemia. 26585929 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Although the identification of mechanisms mediating VDR-regulated transcription has been one focus of recent research in the field, other topics of fundamental importance include the identification and functional significance of proteins involved in the metabolism of vitamin D. CYP2R1 has been identified as the most important 25-hydroxylase, and a critical role for CYP24A1 in humans was noted in studies showing that inactivating mutations in CYP24A1 are a probable cause of idiopathic infantile hypercalcemia. 26681795 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE We sought an alternative assay to characterize a CYP24A1 mutation in a young adult with bilateral nephrolithiasis and hypercalcemia associated with ingestion of excess vitamin D supplements and robust dairy intake for 5 years. 25375986 2015
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Furthermore, it illustrates that patients with CYP24A1 mutations can maintain normal calcium levels during the steady state but can develop hypercalcemia when challenged, such as in pregnancy when 1,25-(OH)2D levels are physiologically elevated. 26097993 2015
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 Biomarker disease BEFREE Cases of severe PTH-independent hypercalcemia associated with hypercalciuria in infants should prompt genetic analysis of CYP24A1. 25446019 2015
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Twenty-five patients with hypercalcemia (35%) harbored CYP24A1 variations. 26214117 2015
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE We report the case of dizygotic siblings with a known CYP24A1 mutation resulting in chronic hypercalcemia and impairment of kidney function. 25305753 2015
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 Biomarker disease BEFREE CYP24A1 associated disease is an important differential diagnosis for the workup and counseling of infants as well as adults with hypercalcemia since a proper genetic diagnosis may result in therapeutic consequences. 26304832 2015
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Patients suffering from transient infantile hypercalcaemia were recently described to have mutations in CYP24A1, the key enzyme in 1,25-dihydroxyvitamin D3 degradation. 24572979 2014