Osteopetrosis, Autosomal Recessive 5 (OPTB5)

Osteopetrosis, Autosomal Recessive 5, also known as autosomal recessive osteopetrosis 5, is related to intermediate osteopetrosis and autosomal recessive malignant osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 5 is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include bone marrow and bone, and related phenotypes are seizure and facial palsy