A chronic disease (osteitis deformans) characterized by focal areas of increased bone turnover, due to activated osteoclasts, affecting one or several bones throughout the skeleton. Several different mutations can give rise to the condition. Types 1 and 4 have been mapped to specific loci but the genes are unidentified. PDB2 is caused by mutation in RANK, one of the TNF receptor superfamily (TNFRSF11A). PDB3 is caused by mutation in the sequestosome 1 (SQSTM1) gene, the product of which is associated with the RANK pathway. Juvenile Paget's disease can result from osteoprotegerin deficiency caused by mutation in the TNFRSF11B gene. Inclusion-body myopathy with Paget's disease and frontotemporal dementia (IBMPFD) is a disease of muscle, bone, and brain that results from mutations in the gene encoding valosin-containing protein (VCP). See Paget's disease.
Subjects: Medicine and Health.