Cardiofaciocutaneous Syndrome 1 (CFC1)

Alias:

Cardiofaciocutaneous Syndrome

Cfc Syndrome

Cardio-Facio-Cutaneous Syndrome

Cfc1

Cfcs

Cardiofaciocutaneous Syndrome, Type 1

Cardio-Facial-Cutaneous Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cardiofaciocutaneous Syndrome 1, also known as cardiofaciocutaneous syndrome, is related to cardiofaciocutaneous syndrome 3 and costello syndrome. An important gene associated with Cardiofaciocutaneous Syndrome 1 is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Infectious disease and ERK Signaling. The drug Zinc oxide has been mentioned in the context of this disorder. Affiliated tissues include skin and heart, and related phenotypes are intellectual disability and hypotonia

Related ID：

MALACARDS：CRD224

OMIM：115150

MESH：C535579