Paget disease of bone (PDB) are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation of RANKL-RANK signaling axis with increases in bone resorption. Hearing impairment and tooth loss is common. Apart from juvenile-onset Paget's disease (PDB5), the condition is inherited as an autosomal dominant trait.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB85 Paget disease of bone
H00437 Paget disease of bone
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06516 TNF signaling
H00437 Paget disease of bone
Cellular process
nt06532 Autophagy
H00437 Paget disease of bone
nt06536 Mitophagy
H00437 Paget disease of bone