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][2] Known RASopathies include the following: [1][2][3]

The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway.

RASopathy is a group of genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras-mitogen activated protein kinase (MAPK) pathway 1. They’re called RASopathies because they’re caused by problems in the Ras-MAPK pathway, which is one way cells in the body communicate.

Scroll down to find information about and resources for the following germline mutation syndromes: Also see Other RASopathy Syndromes: CM-AVM and SYNGAP1 -ID, and HINCONS.

Summary: RASopathies are developmental disorders caused by germline pathogenic variants in RAS/MAPK pathway genes. Here, we review the preclinical studies that provide the basis for future interventional clinical trials for RASopathy patients.

RASopathies are a group of genetic conditions. They're called RASopathies (raz-OP-uh-thees) because they're caused by problems in the RAS pathway, which is one way cells in the body communicate. The individual RASopathies are rare, but as a group: They're among the most common genetic conditions.

The RASopathies Study seeks to learn more about the development of tumors in patients with a RASopathy. RASopathies are a group of syndromes, also called conditions or disorders, caused by changes in genes that send signals across the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway.

Feb 1, 2022 · First, a RASopathy is a clinical syndrome with overlapping phenotypic features caused by germline pathogenic variants associated with the RAS/MAPK pathway. Second, a RASopathy is caused by multiple pathogenetic mechanisms, all of which lead to a similar outcome of RAS/MAPK pathway activation/dysregulation.

Having a RASopathy syndrome may increase a person’s risk of certain types of cancer. RASopathy syndromes include cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, Noonan syndrome, and capillary malformation-arteriovenous malformation syndrome.

Jan 3, 2025 · RASopathies describe a group of conditions caused by mutations in genes that encode for components or regulators of the Ras/ mitogen-activated protein kinase (MAPK) pathway. Broadly, RASopathies can be described as being caused by germline (germline RASopathies) or somatic mutations 8.