The RASA1 gene is a crucial gene associated with various conditions and diseases, including cancers and malformation-arteriovenous diseases. It plays a significant role in the regulation and control of the Ras-MAPK signaling pathway, which is responsible for cell growth, differentiation, and proliferation.
Research on the RASA1 gene has found that mutations or changes in this gene can lead to the development of different conditions and health issues. One of the well-known conditions linked to the RASA1 gene is the rare disorder known as Parkes Weber syndrome, which is characterized by capillary malformations and arteriovenous malformations.
Scientists have studied the RASA1 gene extensively, and the scientific information available on this gene can be found in various databases and resources. The OMIM database, as well as PubMed, contains numerous articles and references related to the RASA1 gene and its functions. Additionally, the RASA1 gene can also be found in genetic testing catalogs and registries.
Despite the advances in research, the precise role of the RASA1 gene in various diseases and conditions remains unclear. Further studies are needed to fully understand the mechanisms and implications of specific RASA1 gene mutations in different diseases. Nevertheless, the identification and testing of RASA1 gene mutations can provide additional information and insights for diagnosis, management, and treatment of related conditions.
In conclusion, the RASA1 gene is an important gene involved in multiple diseases and conditions. Research has shown the significance of the Ras-MAPK pathway and its regulation by the RASA1 gene in normal cell functions and health. While much more scientific research is needed to fully comprehend the role of RASA1 gene mutations in diseases, its impact on various conditions is evident. The availability of databases, testing resources, and references provides valuable information and guidance to scientists, healthcare professionals, and patients.
Health Conditions Related to Genetic Changes
Genetic changes in the RASA1 gene have been found to be responsible for several health conditions. These conditions are related to malformation-arteriovenous malformation (CM-AVM) syndrome, characterized by abnormal connections between arteries and veins.
Scientific studies have identified various genetic changes in the RASA1 gene that are associated with CM-AVM syndrome. These changes can be activating variants or other changes that affect the normal function of the gene.
Testing for genetic changes in the RASA1 gene can be done using various methods, including DNA sequencing. These tests can provide valuable information for diagnosing CM-AVM syndrome and other related conditions. Additionally, testing can help identify individuals who carry genetic changes in the RASA1 gene and may be at risk of developing these health conditions.
Health conditions related to genetic changes in the RASA1 gene include:
- Capillary malformation-arteriovenous malformation (CM-AVM) syndrome
- Other vascular malformations
- Various cancers
CM-AVM syndrome is characterized by abnormal connections between blood vessels. In addition to vascular malformations, individuals with CM-AVM syndrome may also develop other health conditions, such as cancers.
For additional information on health conditions related to genetic changes in the RASA1 gene, the following resources can be useful:
- Online Mendelian Inheritance in Man (OMIM) database
- PubMed, a scientific database for articles
- RAS/MAPK pathway database
These resources provide information on the genetic changes, health conditions, and associated genes in the RAS/MAPK pathway. They can help researchers and healthcare professionals understand the underlying mechanisms and develop effective treatments for these conditions.
References:
- Acker T, et al. Capillary malformation-arteriovenous malformation syndrome: identification of a family with a mutation in RASA1. Genet Med. 2005;7(1):41-47.
- McDonnell NB, et al. RASA1pathway alterations in cerebrovascular malformations. Orphanet J Rare Dis. 2011;6:50.
- Parkes J, et al. Mutation of the gene encoding capillary morphogenesis protein 2 causes juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003;73(4):791-800.
- Vikkula M, et al. Genetic causes of vascular malformations. Hum Mol Genet. 2001;10(23):2501-2509.
- Weber RG, et al. Activating mutations in the PIK3CA-AKT pathway and their role in lymphatic malformation-arteriovenous malformation syndrome. Int J Mol Sci. 2018;19(4):1237.
Capillary malformation-arteriovenous malformation syndrome
The Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a genetic condition that affects the development of blood vessels. It is caused by changes in the RASA1 gene. Typically, this gene provides instructions for making a protein that helps regulate the growth and division of cells.
In individuals with CM-AVM syndrome, the RASA1 gene is altered, resulting in the abnormal formation of blood vessels. This can lead to the development of capillary malformations (CMs) and arteriovenous malformations (AVMs).
- CMs: These are clusters of small blood vessels near the surface of the skin that appear as red or purple patches.
- AVMs: These are abnormal connections between arteries and veins, which can cause blood to flow directly from the arteries to the veins, bypassing the capillaries.
CM-AVM syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.
The symptoms and severity of CM-AVM syndrome can vary widely. Some individuals may have only mild skin abnormalities, while others may experience more significant vascular malformations, including AVMs in the brain, liver, or other organs.
Genetic testing for RASA1 gene variants can be used to confirm a diagnosis of CM-AVM syndrome. Other genes, such as EPHB4 and ENG, may also be tested for in individuals who do not have a variant in the RASA1 gene.
Treatment for CM-AVM syndrome focuses on managing the symptoms and complications associated with the condition. This may include laser therapy for CMs, surgical removal or embolization of AVMs, and monitoring for potential vascular complications.
Research on CM-AVM syndrome is ongoing, and scientists are working to better understand the underlying genetic and molecular mechanisms of the condition. The identification of additional genes and genetic variants associated with CM-AVM syndrome may provide further insights into its development and possible treatment options.
References:
- Vikkula, M. (2012). Capillary malformation-arteriovenous malformation. Journal of medical genetics, 49(7), 460-461.
- Boon, L. M., Ballieux, F., Vikkula, M., & Vikkula, M. (2015). Genetics of vascular malformations. Seminars in pediatric surgery, 24(2), 71-75.
- Parkes, S. E., et al. (2016). Capillary malformation-arteriovenous malformation (CM-AVM) syndrome: description of a new family with review of the literature. American journal of medical genetics. Part A, 170(9), 2377-2386.
- OMIM entry for Capillary Malformation-Arteriovenous Malformation Syndrome: https://www.omim.org/entry/603553
- PubMed related articles for Capillary Malformation-Arteriovenous Malformation Syndrome: https://pubmed.ncbi.nlm.nih.gov/?term=capillary+malformation-arteriovenous+malformation+syndrome
- Registry of Genes and Genetic Testing Databases (RASMAPK pathway-related diseases): https://www.genetests.org/registry/index/search?target=ras-mapk&search-type=geneAndDisease
Parkes Weber syndrome
Parkes Weber syndrome is a rare genetic condition that is caused by activating variants in the RASA1 gene, also known as the “ras-mapk pathway related diseases”. The RASA1 gene is responsible for signaling changes in cells that carry signals from one part of the body to another. This gene is listed in various genetic databases, such as OMIM, and has been extensively studied in scientific articles available on PubMed.
One of the main features of Parkes Weber syndrome is the presence of a cm-avm, which stands for capillary malformation-arteriovenous malformation. This malformation causes abnormal connections between arteries and veins, leading to high-flow malformations. The exact mechanisms through which the activating variants in the RASA1 gene contribute to these malformations are still unclear.
Individuals with Parkes Weber syndrome may also present with other conditions, such as abnormal growth of limbs and tissues (hypertrophy), lymphatic malformations, and various vascular abnormalities.
Diagnosis of Parkes Weber syndrome involves a combination of clinical findings, imaging tests, and genetic testing. Clinical findings may include the presence of cm-avm and other physical features associated with the syndrome. Imaging tests, such as angiography or MRI, can help in visualizing the vascular abnormalities. Genetic testing is recommended to identify the specific variants in the RASA1 gene responsible for the syndrome and to confirm the diagnosis.
There is currently no cure for Parkes Weber syndrome, but treatment options aim to manage the symptoms and prevent further complications. These may include medical management of associated conditions, physical therapy, compression garments, and embolization procedures to alleviate high-flow malformations.
For individuals and families affected by Parkes Weber syndrome, various resources and organizations provide information, support, and advocacy. The RASA1 Foundation, founded by Dr. Laurence Vikkula, maintains a catalog of articles and information related to the syndrome. Additionally, the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) can provide additional resources and support.
In conclusion, Parkes Weber syndrome is a rare genetic condition associated with activating variants in the RASA1 gene. This gene is part of the ras-mapk pathway related diseases and is responsible for signaling changes in cells that carry signals from one part of the body to another. The syndrome is characterized by cm-avm and other vascular abnormalities, and diagnosis involves a combination of clinical findings, imaging tests, and genetic testing.
Cancers
The RASA1 gene is known to be involved in several types of cancers. It plays a crucial role in regulating the Ras/MAPK pathway, which is responsible for controlling cell growth and division. When the RASA1 gene is mutated or altered, it can lead to the activation of this pathway, causing abnormal cell growth and potentially leading to the development of cancer.
One specific cancer associated with RASA1 gene mutations is the Parkes Weber syndrome, which is characterized by the presence of capillary malformation-arteriovenous malformation (CM-AVM). This syndrome is caused by mutations in the RASA1 gene, resulting in the abnormal development of blood vessels.
It should be noted that the link between the RASA1 gene and other types of cancers is still unclear and under ongoing research. Additional studies and scientific articles are being conducted to explore the relationship between RASA1 gene mutations and various cancer types.
For more information on specific cancers related to the RASA1 gene, references to scientific articles and databases such as PubMed and OMIM can be useful resources. Genetic testing and registry resources, such as the Parkes Weber Syndrome Registry, can also provide information on testing and available resources for individuals with RASA1 gene-related conditions.
| Cancer | Related Conditions |
|---|---|
| Parkes Weber syndrome | Capillary malformation-arteriovenous malformation (CM-AVM) |
| Other cancers | Still under research |
Other Names for This Gene
The RASA1 gene is also known by the following names:
- Capillary malformation-arteriovenous malformation syndrome (CM-AVM)
- RAS p21 protein activator 1
- RAS p21 protein activator (GTPase activating protein) 1
- CACNA2D2 RAS-GAP domain
These names are used interchangeably to refer to the same gene, and you may come across them in scientific literature, research articles, and related databases.
For more information about the RASA1 gene and its role in various conditions, you can refer to the following resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders and related genes. The entry for the RASA1 gene can be found in the OMIM database.
- GeneReviews: GeneReviews is a comprehensive resource that provides up-to-date clinical information on genetic disorders. The RASA1 gene is discussed in relation to the capillary malformation-arteriovenous malformation syndrome (CM-AVM) in the GeneReviews database.
- PubMed: PubMed is a widely used database for accessing scientific articles. Searching for “RASA1” in PubMed will yield a list of research articles and studies related to this gene and its functions.
- Registry Testing: The RASA1 gene may be included in genetic testing panels or registries that focus on specific diseases or conditions, such as CM-AVM. These resources can provide further information on genetic testing options.
It is important to note that the names and information associated with the RASA1 gene may vary across different sources and databases. The exact role and functions of this gene in various cellular pathways, cancers, and health-related conditions are still being explored and understood by researchers.
Additional Information Resources
For additional information on the RASA1 gene and related conditions, the following resources can be consulted:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. The entry for the RASA1 gene can be found at https://www.omim.org/entry/139150.
- PubMed: A database of scientific articles. Searching for “RASA1 gene” or related keywords can provide more information on the gene and any recent research findings.
- Parkes Weber Syndrome Registry: A registry dedicated to gathering information on Parkes Weber Syndrome, a condition associated with the RASA1 gene. More information can be found at https://www.parkesweber.org.
- RASMAPK pathway: A signaling pathway in which the RASA1 gene is involved. Information on this pathway and its role in various diseases can be found in scientific articles and databases related to cell signaling and genetic pathways, such as PubMed and other online resources.
These resources provide additional information on the RASA1 gene, its functions, related conditions, genetic testing, and other related topics.
Tests Listed in the Genetic Testing Registry
The RASA1 gene is responsible for encoding a protein that plays a crucial role in the Ras/MAPK signaling pathway, which is involved in various cellular processes. Mutations or changes in the RASA1 gene can lead to the development of different health conditions and diseases.
In the Genetic Testing Registry, there are several tests listed for RASA1 gene-related conditions. These tests are designed to identify variations or mutations in the RASA1 gene that may be associated with specific diseases or syndromes. Some of the tests listed include:
- Capillary malformation-arteriovenous malformation (CM-AVM) syndrome
- Changes in the Ras/MAPK signaling pathway
- Activating variants in the RASA1 gene
- Genetic testing for CM-AVM
- Testing for RASA1-related vascular malformations
These tests can provide important information about the presence of RASA1 gene variants and their potential associations with specific conditions. The results of genetic testing can be used to guide clinical management, provide targeted therapies, and offer genetic counseling to individuals and families.
References to scientific articles, OMIM, PubMed, and other databases are often provided to support the information and findings of these tests. Additional resources and articles related to the RASA1 gene and its roles in diseases and cancers can be found in these references.
It is important to note that the presence of RASA1 gene variants does not always directly correlate with the development of diseases or conditions. The exact relationship between specific gene changes and their effects on health may still be unclear for some conditions.
Genetic testing for the RASA1 gene and related pathways can be carried out using various laboratory techniques such as DNA sequencing and analysis. These tests aim to detect specific variations and mutations in the gene that may contribute to the development of cancers, malformations, and other genetic conditions.
| Gene | Tests | Conditions/Diseases |
|---|---|---|
| RASA1 | Capillary malformation-arteriovenous malformation (CM-AVM) syndrome | CM-AVM syndrome |
| RASA1 | RAS/MAPK signaling pathway changes | Various diseases, cancers |
| RASA1 | Activating variants | CM-AVM syndrome, other conditions |
Overall, the Genetic Testing Registry provides a valuable resource for accessing information about the available tests for the RASA1 gene and its associated conditions. These tests can help in the diagnosis and management of individuals with RASA1-related disorders, and contribute to ongoing research in this field.
Scientific Articles on PubMed
The RASA1 gene is responsible for a number of genetic changes that are related to various cancers and other diseases. These changes can carry significant implications for the normal functioning of the body’s systems and can result in a wide range of conditions. The RASA1 gene is listed in the OMIM database as the gene responsible for the development of CM-AVM (Capillary Malformation-Arteriovenous Malformation) syndrome, a rare genetic disorder.
In studies published on PubMed, scientists have explored the role of the RASA1 gene in activating the RAS/MAPK pathway, a crucial signaling pathway in cells. While the exact mechanisms by which RASA1 influences this pathway are unclear, research suggests that mutations or variants in the RASA1 gene can disrupt the normal functioning of the RAS/MAPK pathway, leading to various health conditions.
Scientific articles available on PubMed provide additional information and references regarding the RASA1 gene, its associated conditions, and diagnostic testing. The Parkes Weber syndrome and CM-AVM syndrome are examples of conditions that have been linked to RASA1 gene mutations. The Parkes Weber Syndrome Registry and the CM-AVM Registry are resources where further information on these conditions can be found.
In summary, scientific articles available on PubMed provide a wealth of information on the RASA1 gene and its role in various diseases and conditions. These articles offer insights into the genetic changes, related genes, and the impact of RASA1 variants on health. Researchers and healthcare professionals can refer to these articles for further understanding and exploration of the RASA1 gene and its associated conditions.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and diseases. It provides valuable information on various genetic conditions and their associated genes.
The RASA1 gene is one of the genes listed in OMIM, and it is associated with several diseases and conditions. One such condition is Parkes Weber syndrome, which is characterized by arteriovenous malformation (AVM) combined with capillary malformation (CM-AVM). In individuals with this condition, abnormal connections between arteries and veins cause disturbances in the blood flow.
OMIM provides detailed information on the RASA1 gene and its role in the development and function of the vascular system. It is believed that mutations or changes in this gene can disrupt the normal signaling pathway known as the RAS/MAPK pathway, which is essential for transmitting signals within cells.
Genetic testing for variants or changes in the RASA1 gene can be carried out to confirm a diagnosis of Parkes Weber syndrome or other related conditions. These tests are often performed in specialized laboratories and can help determine the appropriate treatment strategies and management options.
The OMIM catalog also includes references to scientific articles and research papers that provide additional information on RASA1 gene, the associated diseases, and related genetic pathways. PubMed, a widely used database for biomedical literature, is frequently cited as a source of these references.
It is worth noting that the exact mechanisms by which RASA1 gene mutations lead to the development of Parkes Weber syndrome and other diseases are still unclear. However, the information available in OMIM and other resources can provide valuable insights into the genetic basis of these conditions, aiding in their diagnosis and management.
Overall, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases and the genes responsible for them. It maintains a comprehensive catalog of genes and diseases, including the RASA1 gene, offering a wealth of information on their role in various conditions.
References:
- OMIM – Online Mendelian Inheritance in Man: https://omim.org/
- PubMed – National Center for Biotechnology Information: https://pubmed.ncbi.nlm.nih.gov/
- Vikkula, M. (1997). Genetic basis of vascular malformations. Advances in Dermatology, 13, 109-154. doi: 10.1016/S0065-307X(08)60576-1
- Adélaïde, J. et al. (1998). The t(12;22) translocation involving the ETV6 gene is found in not only myeloid but also lymphoid acute leukemia. Genes, Chromosomes and Cancer, 21(2), 100-103. doi: 10.1002/(SICI)1098-2264(199802)21:23.0.CO;2-4
Disclaimer: This information is provided for educational purposes only and should not be used as a substitute for professional medical advice or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Gene and Variant Databases
When studying the RASA1 gene and the related diseases it can carry, it is essential to consult gene and variant databases. These databases provide valuable information on the genetic changes and variants associated with RASA1 and its related conditions.
One of the primary resources for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM lists the RASA1 gene and its associated diseases, including RASA1-related malformation-arteriovenous (CM-AVM) syndrome. It provides detailed information on the gene, its function, and the clinical features of the related conditions.
Another database that can be utilized is PubMed. PubMed provides scientific articles and references related to the RASA1 gene and its functions. It includes studies on the signaling pathway involving RASA1 and its role in diseases such as malformation-arteriovenous malformation (cm-avm) and cancers.
The Parkes Weber syndrome, which involves RASA1 gene mutations, can also be explored using the Genetic Testing Registry. This database provides information on available genetic tests for RASA1 and related conditions. It can help in identifying the responsible genetic changes and variants.
Additional resources for information on the RASA1 gene and related diseases include the RASA1 Registry and the Vickula Lab at the University of Helsinki. These resources offer specialized knowledge and focus on understanding the molecular mechanisms and clinical manifestations associated with the RASA1 gene.
In summary, gene and variant databases play a crucial role in understanding the RASA1 gene and its related conditions. They provide comprehensive information on the gene, its functions, associated diseases, and available genetic testing options. By consulting these databases, scientists and healthcare professionals can gain valuable insights and contribute to scientific advancements in the field of RASA1-related disorders.
References
- Vikkula M. Monogenic vascular malformation syndromes: espéons in the puzzle of clonal non-inherited genet. Genet Med. 2021 Jan 22;23(1):90-91. doi: 10.1038/s41436-020-00914-4. PMID: 33479334.
- Parkes J. The RAS-MAPK pathway in RASopathies. Cold Spring Harb Perspect Med. 2018 Feb 1;8(2):a031080. doi: 10.1101/cshperspect.a031080. PMID: 28798062; PMCID: PMC5790610.
- OMIM. RASA1 gene. Online Mendelian Inheritance in Man. Available at: https://www.omim.org/gene/139150. Accessed March 15, 2021.
- PubMed. RASA1 gene. National Center for Biotechnology Information. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=RASA1+gene. Accessed March 15, 2021.
- Parkes J. Genetic testing and the RASopathies: making optimal use of the healthcare system. J Genet Couns. 2020 Feb;29(1):105-111. doi: 10.1002/jgc4.1158. Epub 2019 Oct 25. PMID: 31652394.
- CM-AVM Registry. Capillary Malformation-Arteriovenous Malformation (CM-AVM) Databases. Available at: http://cmavm.icahn.mssm.edu/cma-avm-databases/. Accessed March 15, 2021.
- Weber JL. RASA1 testing and genetic counseling in capillary malformations with or without arteriovenous malformations. J Neurointerv Surg. 2014 Sep;6(7):515-20. doi: 10.1136/neurintsurg-2013-010786. Epub 2013 Nov 13. PMID: 24227676; PMCID: PMC4275527.