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RASopathy is a category of rare developmental syndromes defined by germline mutations—or, in rare cases, somatic mosaicism—in genes encoding components of the Ras/MAP kinase signal transduction pathway (Orphanet:536391). Recognized subtypes include Noonan syndrome and Noonan-related syndromes, neurofibromatosis type 1, neurofibromatosis-Noonan syndrome, and CBL-related disorder. No prevalence estimate or age-of-onset category is certified in this packet.
No phenotype records or characteristic findings are certified in this packet. Clinical presentations differ by subtype.
The packet definition describes germline mutations—or, in rare instances, somatic mosaicism—in genes encoding Ras subfamily proteins and mitogen-activated protein kinases that govern intracellular signal transduction. No individual causative genes are listed in the known_genes field of this packet, and no inheritance pattern is specified.
No diagnostic methods are certified in this packet.
No approved treatments or foundational therapies are certified in this packet. The RASopathies Network (rasopathiesnet.org) maintains a patient registry for this disease group.
8 trials found
No natural history data is certified in this packet.
Several active clinical trial records are present. Studies include a long-term clinical, genetic, and epidemiologic study of children and adults with RASopathies (NCT04888936, National Cancer Institute, recruiting through 2035) and a retrospective natural history study of RASopathy-associated cardiomyopathy (NCT07344480, Deutsches Herzzentrum Muenchen, recruiting). A study examining solid tumors in RASopathies is also active (NCT05761314, Fondazione Policlinico Universitario Agostino Gemelli IRCCS). Active clinical trials for this condition are listed on ClinicalTrials.gov.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about RASopathy