RASopathy Syndrome
| RASopathy Syndrome | |
|---|---|
| Term | RASopathy Syndrome |
| Short definition | RASopathy Syndrome - (pronounced) (ras-AH-puh-you SIN-drome) group of rare diseases caused by mutations (changes) in certain genes that make proteins involved in the Ras/MAPK cell signaling pathway. This signaling pathway plays an important role in controlling many cell functions, including cell growth, cell maturation, and cell death. |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
RASopathy Syndrome - (pronounced) (ras-AH-puh-you SIN-drome) group of rare diseases caused by mutations (changes) in certain genes that make proteins involved in the Ras/MAPK cell signaling pathway. This signaling pathway plays an important role in controlling many cell functions, including cell growth, cell maturation, and cell death. There are many different RASopathy syndromes. Most of these syndromes are characterized by unusual facial features, heart defects, skin abnormalities, and eye, muscle, and bone problems. Gastrointestinal and nervous system problems, as well as growth, learning, and developmental delays can also occur. RASopathy syndrome can 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
External links
- Medical encyclopedia article on RASopathy Syndrome
- Wikipedia's article - RASopathy Syndrome
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