Osteopetrosis, Autosomal Dominant 3 (OPTA3)

Osteopetrosis, Autosomal Dominant 3, is also known as opta3. An important gene associated with Osteopetrosis, Autosomal Dominant 3 is PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1). Affiliated tissues include bone and bone marrow, and related phenotypes are osteopenia and splenomegaly