Pycnodysostosis (PKND)

Pycnodysostosis, also known as pyknodysostosis, is related to osteomyelitis and cleidocranial dysplasia 1, and has symptoms including grooving of nail An important gene associated with Pycnodysostosis is CTSK (Cathepsin K), and among its related pathways/superpathways are Clock-controlled autophagy in bone metabolism and IL6-mediated signaling events. Affiliated tissues include bone and skin, and related phenotypes are frontal bossing and brachydactyly