Osteopetrosis, Autosomal Recessive 4 (OPTB4)

Osteopetrosis, Autosomal Recessive 4, also known as autosomal recessive osteopetrosis 4, is related to intermediate osteopetrosis and autosomal recessive malignant osteopetrosis. An important gene associated with Osteopetrosis, Autosomal Recessive 4 is CLCN7 (Chloride Voltage-Gated Channel 7), 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 and bone marrow, and related phenotypes are anemia and thrombocytopenia