osteopetrosis, autosomal recessive, type 2

(redirected from osteopetrosis, mild autosomal recessive form)

osteopetrosis, autosomal recessive, type 2

A form (OMIM:259710) of osteopetrosis, which is characterised by dense bone due to defective resorption of immature bone. In contrast to other autosomal recessive forms of osteopetrosis, which are severe and develop in utero, infancy or childhood, OPTB2 is autosomal recessive, relatively banal and remarkable for a paucity of osteoclasts, suggesting a molecular defect in osteoclast development.

Molecular pathology
Caused by defects of TNFSF11, which encodes a TNF ligand that regulates osteoclast differentiation and activation.