Osteopetrosis, Autosomal Recessive 8 (OPTB8)

Osteopetrosis, Autosomal Recessive 8, also known as autosomal recessive osteopetrosis 8, is related to bile acid synthesis defect, congenital, 1 and cardiofaciocutaneous syndrome 1. An important gene associated with Osteopetrosis, Autosomal Recessive 8 is SNX10 (Sorting Nexin 10), and among its related pathways/superpathways is Autosomal recessive osteopetrosis pathways. Affiliated tissues include bone and bone marrow, and related phenotypes are optic atrophy and osteopetrosis