Family of genetic conditions caused by mutations affecting Ras genes
The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities.[1]
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The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include...
disease in the RASopathy family of diseases, which include Costello Syndrome, Noonan Syndrome, and Cardiofaciocutaneous syndrome. The RASopathies also present...
condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a different missense...
constitutively active. Trametinib has been used off label to treat various RASopathies, including Noonan Syndrome and Primary Intestinal Lymphangiectasia. "Prescription...
dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves attenuation of the RAS/MAPK...
hemorrhagic telangiectasia. AVMs are usually congenital and are part of the RASopathy family of developmental syndromes. The understanding of the anomaly's...
trauma syndrome Rapp–Hodgkin syndrome Rapunzel syndrome Rasmussen syndrome RASopathy Raymond Céstan syndrome Raynaud syndrome Red ear syndrome Red man syndrome...
short stature and many have reduced levels of growth hormones. It is a RASopathy.[citation needed] Beginning in early childhood, people with specific mutations...
with intellectual disability, neuro-cardio-facial-cutaneous syndromes, RASopathies, ectodermal dysplasias, and certain myopathies. Physicians can often...
indicative of schwannomatosis. The neurofibromatoses are considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses). The diagnosis...
are absent in Legius syndrome. Legius syndrome is a phakomatosis and a RASopathy, a developmental syndrome due to germline mutations in genes. The condition...
(CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. It is characterized by the following:...
in infancy and does not run in families. It likely represents a mosaic RASopathy. Woolly hair is typically very curly, kinky and characteristically impossible...
hairs on the peripheral face, central back, and extremities. It is a RASopathy. Cantú syndrome List of cutaneous conditions Rapini, Ronald P.; Bolognia...
Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis. It is a rare genetic...
Cardiff in 2023. She organised the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics...
Noonan syndrome, Costello syndrome, and neurofibromatosis type 1 are RASopathies, associated with mutations in the RAS cell signaling pathway. ERMS caused...
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