Mixed Connective Tissue Disease (MCTD)

Mixed Connective Tissue Disease, also known as sharp syndrome, is related to scleroderma, familial progressive and raynaud disease. An important gene associated with Mixed Connective Tissue Disease is SNRNP70 (Small Nuclear Ribonucleoprotein U1 Subunit 70), and among its related pathways/superpathways is ALK1 signaling events. The drugs Rituximab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include lung and kidney, and related phenotypes are arthritis and gastroesophageal reflux