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GENATLAS PHENOTYPE
last update : 24-02-2016
Symbol PDB2
Location 18q21.33
HGNC id 8758
Name Paget bone disease 2
Other name(s) osteitis deformans
Corresponding gene TNFRSF11A
Main clinical features
  • characterized by bone pain, deformities, pathological fracture, an increased incidence of osteosarcomas and abnormal large, multinucleated osteoclasts with paramyxovirus-like nuclear inclusions
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name tumor necrosis factor receptor superfamily, member 11a, activator of NFKB
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    duplication     affecting the signal peptide of RANK
    Remark(s)