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. Author manuscript; available in PMC: 2021 Mar 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Feb 5;184(1):73–80. doi: 10.1002/ajmg.c.31765

FIGURE 1.

FIGURE 1

Spectrum of RAS-MAPK pathway disease genes and associated RASopathies. Proteins having roles in the RAS-MAPK are shown, and the ones for which pathogenic variation in the encoding genes results in one or more RASopathies are indicated. The proteins depicted within the boxes largely reside at the cell membrane (indicated with the schematic of lipid bilayers, except LZTR1, which is associated with the Golgi apparatus). The proteins shown outside of the boxes principally reside in the cytosol. Abbreviations: CFCS, cardiofaciocutaneous syndrome; CS, Costello syndrome; NF1, neurofibromatosis type 1; NFNS, neurofibromatosis-Noonan syndrome; NS, Noonan syndrome; NSLAH, Noonan syndrome with loose anlagen hair; NSML, Noonan syndrome with multiple lentigines; NS-like JMML, Noonan syndrome-like disorder with juvenile myelomonocytic leukemia; RTK, Receptor tyrosine kinases. Copyright, Ni-ka Ford, Icahn School of Medicine at Mount Sinai