Paget Disease of Bone 3

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OMIM 57 167250 MedGen 42 C4085252 CN032130

MeSH 44 D010001 SNOMED-CT via HPO 69 263681008 103276001 15188001 343087000 95828007 12584003 21708004 307576001 more

UniProtKB/Swiss-Prot : ⁷⁵ Paget disease of bone 3: A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone.

MalaCards based summary : Paget Disease of Bone 3, also known as osteitis deformans, is related to paget's disease of bone and mammary paget's disease, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Paget Disease of Bone 3 is SQSTM1 (Sequestosome 1). Affiliated tissues include bone and prostate, and related phenotypes are hearing impairment and bone pain

OMIM : ⁵⁷ Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). (167250)

Clinical features from OMIM:

167250

Search Clinical Trials , NIH Clinical Center for Paget Disease of Bone 3

calcitonin

salmon calcitonin

Search GEO for disease gene expression data for Paget Disease of Bone 3.