osteopetrosis, autosomal recessive, type 7

(redirected from osteoclast-poor osteopetrosis with hypogammaglobulinaemia)

osteopetrosis, autosomal recessive, type 7

A rare inherited bone disorder (OMIM:612301) characterised by dense bone due to defective resorption of immature bone. It has two forms: severe autosomal recessive form of early onset (in utero, infancy or childhood), and a benign autosomal dominant form first appearing in adolescence or adulthood. OPTB7 is associated with hypogammaglobulinaemia.

Molecular pathology
Caused by defects in TNFRSF11A, which encodes a member of the TNF receptor that is essential for RANKL-mediated osteoclastogenesis.
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