Conditions / Genetic

Paget disease of bone 3

info ยท Genetic

A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35.

Signs and symptoms

  • Bone pain
  • Patchy osteosclerosis
  • Elevated circulating alkaline phosphatase concentration
  • Recurrent long bone fractures
  • Osteosarcoma
  • Osteolysis
  • Hearing impairment

Also known as: Paget's disease of bone-3