Learn About RASopathies

What is the definition of RASopathies?
RASopathies are a group of rare syndromes causes by mutations in the genes that make proteins for the Ras/MAPK cell signaling pathway. This pathway controls cell functions such as cell growth, cell maturation, and cell death. There are several types of RASopathy syndromes, including cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, Noonan syndrome, and capillary malformation-arteriovenous malformation syndrome.
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What are the symptoms of RASopathies?
Symptoms of RASopathies depend on the type. Symptoms of RASopathies include facial, eye, skin, muscle, bone, nervous system, heart, and gastrointestinal abnormalities; learning disabilities; and developmental delays. Individuals with RASopathies may also have an increased risk of cancer.
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What are the different types of RASopathies?
What are the current treatments for RASopathies?
Treatment for RASopathies includes selumetinib and RAS targeted therapies.
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What are the latest RASopathies Clinical Trials?
Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders

Summary: The project is targeting cognitive impairment, one of the main health problems of patients with RAS pathway disorders. The aim of this study is to translate findings of animal studies to humans. This has been done by the applicants successfully for Lovastatin in Nf1. This result will be transferred to patients with Noonan Syndrome. lamotrigine is most likely a more effective and promising substanc...

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French Registry of Children Treated With Norditropin® for Short Stature Associated With Noonan Syndrome

Summary: This is a non-interventional registry of children treated with Norditropin® for short stature due to Noonan Syndrome (NS). This study aims to provide data on long-term growth evolution and safety of Norditropin® as well as Health Related Quality of Life (HRQoL) data. This registry will include the entirety of children treated with Norditropin® for short stature due to NS over the inclusion period....

What are the Latest Advances for RASopathies?
MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
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Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.