RASopathy
RASopathy
RASopathy (pronounced: rah-SOP-uh-thee) is a class of medical genetic conditions that are caused by mutations in genes that are part of the RAS/MAPK pathway. The term "RASopathy" is derived from the name of the pathway (RAS) and the Greek word "pathos" (suffering).
Etymology
The term "RASopathy" is a portmanteau of "RAS", which is an acronym for three proteins in the RAS/MAPK pathway (Rat sarcoma viral oncogene homolog, Harvey rat sarcoma viral oncogene homolog, and Kirsten rat sarcoma viral oncogene homolog), and "-opathy", a suffix in medical terminology that denotes a disorder or disease.
Related Terms
- RAS/MAPK pathway: A chain of proteins in the cell that communicates a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell. Mutations in this pathway can lead to various RASopathies.
- Genetic mutation: A permanent alteration in the DNA sequence that makes up a gene.
- Genetic condition: A health problem or trait that is caused by changes in genes or chromosomes.
RASopathies
RASopathies include:
- Neurofibromatosis type 1: A condition characterized by changes in skin coloring and the growth of tumors along nerves in the skin, brain, and other parts of the body.
- Noonan syndrome: A disorder that causes abnormal development of multiple parts of the body.
- Costello syndrome: A disorder that affects many parts of the body and increases the risk of developing certain cancers.
- Cardiofaciocutaneous syndrome: A disorder that affects the heart, facial features, and the skin.
- Legius syndrome: A condition that causes changes in skin coloring and typically does not affect other parts of the body.
See Also
External links
- Medical encyclopedia article on RASopathy
- Wikipedia's article - RASopathy
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