Paget's Disease of Bone (PDB)

Alias:
Osteitis Deformans
Paget Disease of Bone
Paget Disease of Bone, Familial
Osseous Paget's Disease
Bone Paget Disease
Familial Paget's Disease of Bone
Paget's Bone Disease
Paget Disease, Bone
Pagets Bone Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Paget's Disease of Bone, also known as osteitis deformans, is related to paget's disease of bone 2 and inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Paget's Disease of Bone is SQSTM1 (Sequestosome 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Neuroscience. The drugs Zoledronic acid and Pamidronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and shRNA abundance <= 50%
Related ID:
MESH:D010001
ICD11:1653656681

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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