Costello Syndrome

About the Disease
Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to cardiofaciocutaneous syndrome 1 and noonan syndrome with multiple lentigines, and has symptoms including hoarseness and koilonychia. An important gene associated with Costello Syndrome is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include skin, heart and brain, and related phenotypes are macrocephaly and short neck

Common Targets
G3845 | RAF1 | G673 | VHL | SCN1A | CRBN | HRAS | SOS1 | MAP2K1

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