Paget disease of bone 6

info · Genetic

A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21.

Signs and symptoms

Bone pain
Elevated circulating alkaline phosphatase concentration
Recurrent fractures
Osteoarthritis
Nephrocalcinosis
Left ventricular hypertrophy
Coronary artery atherosclerosis

Also known as: Paget's disease of bone 6