Paget disease of bone, familial

Common Name(s)

Paget disease of bone, familial

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 {31:Ralston et al. (2008)} and {30:Ralston and Albagha (2014)}. Genetic Heterogeneity of Paget Disease of Bone Also see PDB2 ({602080}), caused by mutation in the TNFRSF11A gene ({603499}) on chromosome 18q21; PDB4 ({606263}), mapped to chromosome 5q31; PDB5 ({239000}), caused by mutation in the TNFRSF11B gene ({602643}) on chromosome 8q24; and PDB6 ({616833}), caused by mutation in the ZNF687 gene ({610568}) on chromosome 1q21. Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by {6:Fotino et al. (1977)}; however, further studies did not confirm linkage to this site ({25:Moore and Hoffman, 1988}; {27:Nance et al., 2000}; {8:Good et al., 2001}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paget disease of bone, familial" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
 

Status: Recruiting

Condition Summary: Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia; Paget Disease of Bone; Frontotemporal Dementia; Myopathy

 

Last Updated: 12 May 2011

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Characterization of Familial Myopathy and Paget Disease of Bone
 

Status: Recruiting

Condition Summary: Muscle Disorder; Bone Disorder

 

Last Updated: 12 Feb 2018

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