Loading AI tools
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]
Known RASopathies include the following:[1][2]
- Capillary malformation-AV malformation syndrome (CV-AVM)
- Cardiofaciocutaneous syndrome (CFC)
- Neurofibromatosis type I (NF1)
- Noonan syndrome (NS)
- Costello syndrome (CS)
- Legius syndrome, also known as NF1-like syndrome
- Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome
- SYNGAP1-related intellectual disability
Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic leukemia (JMML). These syndromes may share some features with RASopathies but are not considered true RASopathies if caused by somatic mutation.[3] Generally, RASopathies increase the risk of developing cancers.[1][4] Neurodevelopmental or psychiatric disorders such as attention deficit hyperactivity disorder, autism spectrum disorder, and anxiety occur at higher rates in individuals with RASopathies.[5][6]
RASopathies are caused by germline mutations which result in overall activation of the Ras/MAPK pathway. Mutations in the following genes are associated with one or more types of RASopathy:[2][7]
Wikiwand in your browser!
Seamless Wikipedia browsing. On steroids.
Every time you click a link to Wikipedia, Wiktionary or Wikiquote in your browser's search results, it will show the modern Wikiwand interface.
Wikiwand extension is a five stars, simple, with minimum permission required to keep your browsing private, safe and transparent.
