RAS pathway-associated diseases

Noonan syndrome (NS), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and LEOPARD syndrome (now also referred to as Noonan syndrome with multiple lentigines or NSML) are clinically overlapping dominant disorders that are caused by mutations in RAS signaling pathway genes.

The spectrum of cancer susceptibility:
 neuroblastoma
 acute lymphoblastic leukemia
 low grade glioma
 embryonal rhabdomyosarcoma
 myeloproliferative disease
 bladder cancer

See also

 RASs genes

• HRAS
• KRAS

References

 Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Am J Med Genet C Semin Med Genet. 2011 May 15;157(2):83-9. PMID: 21500339