Pycnodysostosis

About the Disease
Pycnodysostosis, also known as pyknodysostosis, is related to cleidocranial dysplasia and osteomyelitis, 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, skin and pituitary, and related phenotypes are frontal bossing and brachydactyly

Common Targets
GAA | CTSK

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