The disease is characterized by a complex molecularpathogenesis caused by mutations in 23 genes (see theTable) responsible for the development of correspondingclinical osteopetrosis conditions (TCIRG1, CLCN7,OSTM1, PLEKHM1,SNX10, TNFSF11 (RANKL),TNFRSF11A(RANK ), IKBKG (NEMO), RAG1, RAG2,TRAF6, FERMT3,LRRK1, MITF, C16orf57, CSF1R, CAII,SLC29A3, CalDAG-GEF1, CTSK, WTX, LEMD3, RELA). The gene discussed is PLEKHM1; the disease is osteopetrosis.