Camurati-Engelmann Disease

About the Disease
Camurati-Engelmann Disease, also known as progressive diaphyseal dysplasia, is related to ghosal hematodiaphyseal dysplasia and craniodiaphyseal dysplasia, autosomal dominant, and has symptoms including headache, pain in lower limb and waddling gait. An important gene associated with Camurati-Engelmann Disease is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Signaling by TGFB family members. Affiliated tissues include long bone, bone and spinal cord, and related phenotypes are cachexia and hyperostosis

Common Targets
G3320 | TNFSF11 | TGFB1 | TGFBI | LRP6

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