Disease

Cardiofaciocutaneous Syndrome

About the Disease
Cardiofaciocutaneous Syndrome 1, also known as cardiofaciocutaneous syndrome, is related to cardiofaciocutaneous syndrome 4 and cardiofaciocutaneous syndrome 3. An important gene associated with Cardiofaciocutaneous Syndrome 1 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. The drug Zinc oxide has been mentioned in the context of this disorder. Affiliated tissues include heart, skin and skeletal muscle, and related phenotypes are intellectual disability and coarse facial features

Common Targets
MAP2K1 | G3845 | RIT1 | VHL | PPP1R13L | G673 | MAP2K2 | PTPN11 | CRBN | Ras GTPase (nonspecified subtype) | SOS1

疾病靶点研报
Cardiofaciocutaneous Syndrome

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