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RASopathy, also called disorder of Ras protein signal transduction, is defined in the packet as a group of developmental syndromes caused by germline mutations, or in rare cases by somatic mosaicism, in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. The packet lists four subtypes: CBL-related disorder, Noonan syndrome and Noonan-related syndrome, neurofibromatosis-Noonan syndrome, and neurofibromatosis type 1. Prevalence is not certified in this packet.
Per the packet definition, the group is caused by germline mutations, or in rare cases somatic mosaicism, in genes affecting Ras and mitogen-activated protein kinase signal transduction. No specific genes or inheritance patterns are certified for the group in this packet, so none are named here.
Diagnostic criteria and testing methods are not certified for the group in this packet.
No FDA-approved therapies or orphan drug records are present in this packet, and treatment coverage for the group is not certified here. The attached GeneReviews management content is specific to neurofibromatosis 1 and is not generalized to the other subtypes.
8 trials found
Prognosis is not certified for the group in this packet.
ClinicalTrials.gov records in the packet include NCT04888936, a recruiting National Cancer Institute clinical, genetic, and epidemiologic study of children and adults with RASopathies; NCT07344480, a recruiting retrospective natural history study of RASopathy-associated cardiomyopathy sponsored by Deutsches Herzzentrum Muenchen; NCT05761314, a recruiting study of solid tumors in RASopathies sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS; and NCT03050268, a recruiting St. Jude Children's Research Hospital study of familial investigations of childhood cancer predisposition. The RASopathies Network is listed as a patient organization with a registry.
Data assembled from 5 of 12 sources · Last updated Nov 2, 2026, 6:55 PM UTC
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European rare disease database
Genetic and Rare Diseases Info Center
Common questions about RASopathy