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 |
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 |
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 |
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 |
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 |
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 |
Hyperphosphatasemia with bone disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The current study presents two novel OPG mutations in JPD patients.
|
25108083 |
2014 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Hyperphosphatasemia with bone disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.
|
14672344 |
2003 |
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 |
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 |
Hyperphosphatasemia with bone disease
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|