Paget Disease of Bone 6 (PDB6)

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OMIM 57 616833 MedGen 42 C4085250 CN235346

MeSH 44 D010001 SNOMED-CT via HPO 69 263681008 48638002 414024009 53741008 55827005 12584003 134291007 5468008 225655006 396275006 more

UniProtKB/Swiss-Prot : ⁷⁵ Paget disease of bone 6: An autosomal dominant form of Paget disease, 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. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone.

MalaCards based summary : Paget Disease of Bone 6, also known as pdb6, is related to paget's disease of bone. An important gene associated with Paget Disease of Bone 6 is ZNF687 (Zinc Finger Protein 687). Affiliated tissues include bone, and related phenotypes are osteoarthritis and left ventricular hypertrophy

OMIM : ⁵⁷ Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see 167250. (616833)

Clinical features from OMIM:

616833

Search Clinical Trials , NIH Clinical Center for Paget Disease of Bone 6

Search GEO for disease gene expression data for Paget Disease of Bone 6.