Conditions / Musculoskeletal
Paget disease of bone 7
info · Musculoskeletal
A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mu
A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mutation in the PFN1 gene on chromosome 17p13.
Signs and symptoms
- Elevated circulating alkaline phosphatase concentration
- Knee osteoarthritis
- Fractured vertebra
- Osteoarthritis
- Hip osteoarthritis
- Headache
- Bone pain
- Pagetic bone lesion
- Hearing impairment
- Giant cell tumor of bone
Also known as: Paget's disease of bone 7