Non-cirrhotic portal hypertension: Expanding the phenotype of CBL syndrome-related vasculopathy

CBL syndrome is a form of “RASopathies”, a class of developmental disorders caused by germline variants in genes that encode components of the RAS signaling pathway. CBL is a tumor suppressor gene that encodes the cbl family of proteins which function as E3 ubiquitin ligases that negatively regulate intracellular signaling by various receptor tyrosine kinases. RAS/MAPK pathway is central to the cellular function of cell survival, proliferation, and differentiation as well as senescence in response to extracellular stimuli and modulates developmental processes.