Disease: Hyperphosphatasemia with bone disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Compound heterozygote mutations in TNFRSF11B causing JPD have been previously reported only once - in a boy who also had a relatively mild skeletal phenotype. 31655221 2020
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Juvenile Paget disease (JPD1), an autosomal-recessive disorder, is characterized by extremely rapid bone turnover due to osteoprotegerin deficiency. 31271743 2019
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 Biomarker disease BEFREE However, the imbalance of RANKL/RANK/osteoprotegerin is also implicated in the pathogenesis of several other rare metabolic bone diseases, including Juvenile Paget disease, fibrous dysplasia, Hajdu Cheney syndrome and Langerhans cell histiocytosis, thus rendering Dmab a potential treatment option for these diseases. 31454537 2019
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). 29080812 2018
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE This study aimed to describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carriers for clinical signs of JPD. 27809640 2017
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Autosomal recessive transmission of loss-of-function mutations within TNFRSF11B encoding OPG accounts for most JPD (JPD1). 26762549 2016
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE The current study presents two novel OPG mutations in JPD patients. 25108083 2014
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Juvenile Paget's disease (JPD), an autosomal recessive disorder, manifests extremely fast skeletal remodeling, and is usually caused by loss-of-function mutations within TNFRSF11B that encodes OPG.These disorders are ultra-rare. 25063546 2014
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 Biomarker disease BEFREE Denosumab treatment for juvenile Paget's disease: results from two adult patients with osteoprotegerin deficiency ("Balkan" mutation in the TNFRSF11B gene). 24433001 2014
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 Biomarker disease BEFREE Most cases of JPD are caused by osteoprotegerin (OPG) deficiency due to homozygous loss-of-function mutations within the TNFRSF11B gene that encodes OPG. 23322328 2013
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene. 22638612 2012
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 AlteredExpression disease BEFREE Such conditions include familial expansile osteolysis, expansile skeletal hyperphosphatasia, and a familial form of early-onset Paget's disease of bone (PDB2), all from constitutive activation of RANK, and juvenile Paget's disease from OPG deficiency. 17284635 2007
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 AlteredExpression disease BEFREE Whilst no mutations in the RANKL gene have yet been identified in human disease, mutations that result in enhanced RANK signalling through inactivation of OPG or activation of RANK are associated with Juvenile Paget's disease and familial expansile osteolysis, respectively. 17174136 2007
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Homozygosity for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT) causes JPD in the second reported, oldest patient. 17352649 2007
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Juvenile Paget's disease has been shown to be caused by mutations in TNFRSF11B encoding osteoprotegerin. 17388729 2007
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE We recently reported a family with JPD in which affected members were homozygous for an in-frame mutation resulting in the deletion of aspartate 182 in OPG. 16491292 2006
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Autosomal recessive inheritance of deactivating mutations of the gene encoding OPG (TNFRSF11B) causes most cases of juvenile Paget disease. 16831914 2006
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 Biomarker disease BEFREE Because our patient shared some features in common with juvenile Paget disease, we thought that mutational analysis of TNFRSF11B was indicated, even though our patient had some manifestations not found in juvenile Paget disease. 17001672 2006
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE The effects of recombinant osteoprotegerin were investigated in two adult siblings with juvenile Paget's disease. 16135836 2005
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE In 2002, mutations in TNFRSF11B, the gene encoding osteoprotegerin, were described as underlying JPD. 15777670 2005
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Genetic factors are important in the pathogenesis of PDB, and studies have shown that inactivating mutations of the TNFRSF11B gene, encoding osteoprotegerin (OPG), cause the rare syndrome of juvenile Paget's disease. 15312251 2004
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. 14672344 2003
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GermlineCausalMutation disease ORPHANET Osteoprotegerin deficiency could explain juvenile Paget's disease because osteoprotegerin suppresses bone turnover by functioning as a decoy receptor for osteoclast differentiation factor (also called RANK ligand). 12124406 2002
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 GeneticVariation disease BEFREE We evaluated two apparently unrelated Navajo patients with juvenile Paget's disease for defects in the gene encoding osteoprotegerin (TNFRSF11B) using polymerase-chain-reaction (PCR) amplification followed by direct sequencing and Southern blotting of genomic DNA. 12124406 2002
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.800 Biomarker disease CTD_human