The RNF213 gene, also known as ring finger protein 213, is related to a rare genetic disorder called moyamoya disease. This disease is characterized by the narrowing of certain blood vessels in the brain, which leads to a reduced blood supply and an increased risk of stroke.
Mutations in the RNF213 gene have been found to be common in people with moyamoya disease. These mutations can affect the structure and function of the protein produced by the gene, leading to abnormal blood vessel development and increased risk of stroke.
The RNF213 gene is listed on various scientific databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide information and resources for researchers and healthcare professionals to learn more about the gene, its variants, and its role in moyamoya disease.
Testing for mutations in the RNF213 gene can be done through genetic testing laboratories that specialize in moyamoya disease. The Kure-Moyamoya Disease Research and Treatment Registry is an example of a registry that collects data on moyamoya patients and provides testing resources.
In addition to moyamoya disease, changes in the RNF213 gene have also been associated with other neurological conditions such as migraine. Research articles about these characteristics and the role of RNF213 in these diseases can be found in scientific journals and databases.
Health Conditions Related to Genetic Changes
Genetic changes can have a significant impact on a person’s health. Certain genes are known to be associated with specific health conditions, and understanding these genetic changes can provide valuable insights into the causes, symptoms, and treatments of various diseases. One such gene that has been extensively studied is the RNF213 gene.
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The RNF213 gene is found to be particularly prevalent in certain regions, such as in people of Japanese and Korean descent. In these populations, genetic changes in the RNF213 gene are known to be associated with a condition called moyamoya disease, a progressive cerebral vascular disorder characterized by the narrowing of the arteries at the base of the brain.
Mutations in the RNF213 gene can lead to abnormal proteins that play a role in the development of moyamoya disease. Understanding the genetic changes in this gene has provided researchers with important insights into the mechanisms underlying the disease and has paved the way for advancements in diagnosis and treatment.
Genetic testing is available to identify RNF213 gene mutations in individuals who may be at risk for moyamoya disease. This testing can help diagnose the condition, guide treatment decisions, and allow for early intervention to prevent complications.
Aside from moyamoya disease, the RNF213 gene has also been linked to other health conditions. For example, certain genetic changes in this gene have been associated with an increased risk of developing migraine with aura, a type of severe headache that is accompanied by visual disturbances.
To learn more about health conditions related to genetic changes, resources such as scientific articles, research papers, and genetic databases can provide valuable information. Websites like PubMed and OMIM list a variety of articles and references on the RNF213 gene and its association with different diseases.
Additionally, the Kure-OMIM Research Registry, a database that catalogs information about rare diseases and genetic variations, offers comprehensive information about the RNF213 gene and its role in various health conditions.
By studying these genetic changes and their effects on the associated health conditions, researchers and healthcare professionals can better understand the underlying mechanisms of these diseases and develop targeted therapies and interventions.
References:
- Tominaga, T. (2016). Molecular biology of moyamoya disease: significance of RNF213 as a susceptibility gene. Journal of Stroke, 18(1), 1-7.
- Research Registry for Genetic Changes and Health Conditions. Retrieved from https://www.kure.omim.org
- PubMed database. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed
Migraine
Migraine is a common neurological disorder characterized by recurrent, moderate to severe headaches. It has been found to be associated with the RNF213 gene.
The RNF213 gene provides instructions for making a protein that is involved in blood vessel development and function. Mutations in this gene have been linked to moyamoya disease, a rare condition that affects the blood vessels in the brain.
A mutation in the RNF213 gene is not the only genetic factor associated with migraine. There are several other genes that have been found to play a role in the development of this condition. These genes are listed in the OMIM database, which is a catalog of human genes and genetic conditions.
In addition to the OMIM database, there are several other resources available for genetic testing and research on migraine. These include PubMed, a database of scientific articles, and the Kure Registry, a database that collects information about people with mutations in the RNF213 gene.
Tests for mutations in the RNF213 gene and other related genes can be helpful in diagnosing migraine and determining the best course of treatment. Genetic testing can also provide valuable information about the risk of developing other related diseases, such as moyamoya disease.
Changes in the RNF213 gene and other related genes can lead to abnormal protein function in the brain, which may contribute to the characteristic symptoms of migraine. Further research is needed to fully understand the role of genetics in migraine and to develop more effective treatments.
References:
- Tominaga, T. (2011). Peroxynitrite-Mediated Neurodegeneration and Migraine. In Nitroxidative Stress in Brain Diseases (pp. 63-72). Springer.
- Kure, S. (2019). RNF213-related angiopathy (Moyamoya disease and peripheral pulmonary artery stenosis). Journal of Human Genetics, 64(11), 1033-1040.
Moyamoya disease
Moyamoya disease is a rare cerebrovascular disorder that is listed as a characteristic feature of the RNF213 gene. Testing for this disease involves identifying mutations in the RNF213 gene, specifically the variant associated with Moyamoya disease. These mutations affect the proteins produced by the gene, leading to the development of the disease.
Additional information about Moyamoya disease can be found in various genetic databases and catalogs of diseases. Known as a distinct entity, Moyamoya disease is also referred to by other names in different regions, such as “Kure disease” in Japan. There are also registries and databases that provide information on Moyamoya disease, including the Moyamoya Disease Research Association and the Japan Moyamoya Disease Registry.
Studies have shown that Moyamoya disease has a genetic component, with some genetic changes associated with the disease. These changes have been identified through tests and studies on the RNF213 gene and other related genes. Further research on these genes and their role in Moyamoya disease is ongoing.
Scientific articles and references provide valuable information on Moyamoya disease, its genetic basis, and related conditions. These resources can be found in PubMed, OMIM, and other scientific databases. They offer insights into the disease, its symptoms, treatment options, and the latest research findings.
Other Names for This Gene
- RNF213 gene
- Ring finger protein 213
- Ring finger protein 213A
The RNF213 gene is also known by other names such as Ring finger protein 213 and Ring finger protein 213A. These names are commonly used in scientific articles and genetic testing to refer to this gene. The RNF213 gene has been found to play a role in various conditions, including Moyamoya disease and characteristic changes in the brain.
Genetic testing and research have identified mutations in this gene that are associated with Moyamoya disease, a condition characterized by the narrowing and obstruction of certain blood vessels in the brain. The RNF213 gene has also been linked to other diseases and conditions, including migraine and certain genetic changes in brain regions.
Information about the RNF213 gene can be found in various genetic databases, including OMIM (Online Mendelian Inheritance in Man), which provides detailed information about genes and genetic conditions. The RNF213 gene is listed in the OMIM catalog with additional information about its role in different diseases and conditions.
Other resources, such as the Kure-NMD (Kawasaki Disease, Characteristic Changes of Moyamoya, and Disorders) Registry, also provide information about the RNF213 gene and its variants. Scientific articles and research papers available in PubMed contain valuable information about the RNF213 gene and its association with various health conditions and genetic changes.
The RNF213 gene belongs to a family of genes that encode proteins with a characteristic ring finger domain. These proteins are involved in diverse cellular processes and have been studied extensively in the field of genetics.
Additional Information Resources
For additional information about the RNF213 gene and its related health conditions, the following resources may be helpful:
- PubMed: PubMed is a database that provides access to scientific articles on various topics. Searching for “RNF213 gene” in PubMed can help you find research articles and studies related to this gene and its role in different health conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The OMIM entry for the RNF213 gene provides information about the gene, its associated health conditions, and any known mutations or variants.
- Moyamoya Disease Registry: The Moyamoya Disease Registry is a centralized database that collects information about patients with moyamoya disease, a condition often associated with RNF213 gene mutations. The registry can provide data on the prevalence of moyamoya disease and help researchers better understand the disease’s characteristics and genetic basis.
- Genetic Testing: Genetic testing labs and companies offer tests for various genes, including the RNF213 gene. These tests can detect mutations or variants in the gene and provide information about the associated health risks. Consulting a genetic counselor or healthcare professional can help determine if genetic testing is appropriate for you.
- Other Databases and Resources: There are other databases and resources available that focus on genetics and related topics. These resources may have information about the RNF213 gene, its functions, and its associations with various health conditions. Some examples include GeneCards, Ensembl, and the Genetic Testing Registry.
- References: Scientific articles and publications often provide references to other relevant studies and resources. Checking the references section of articles related to the RNF213 gene can lead you to additional sources of information and research.
It is important to note that the information provided in these resources is for informational purposes only and should not replace medical advice or professional consultation. If you have specific questions or concerns about the RNF213 gene or related health conditions, it is recommended to consult with a qualified healthcare professional.
Tests Listed in the Genetic Testing Registry
The RNF213 gene is known to play a significant role in moyamoya disease, a condition characterized by changes in the blood vessels of the brain. In the Genetic Testing Registry, there are various tests listed that provide information about genetic mutations in this gene. These tests help identify specific variants or changes in the RNF213 gene that are associated with moyamoya disease and other related conditions.
The Genetic Testing Registry is a database that catalogs genetic tests and associated resources. This registry contains information about the tests available for different genes, including RNF213. It includes details about the testing methodologies, references to scientific articles, and additional genetic information related to the gene and its role in various diseases.
Tests listed in the registry help healthcare professionals and researchers understand the significance of RNF213 mutations and their implications on different conditions. The registry provides a comprehensive list of tests that can be used to diagnose moyamoya and other diseases related to changes in the RNF213 gene.
The tests listed in the Genetic Testing Registry are categorized based on their specific characteristics and the genes they target. These tests help identify specific mutations and variant changes in the RNF213 gene, which are critical for diagnosing moyamoya disease and related conditions.
The RNF213 gene is also known as KUR-ENBPP or the repetitive domain protein, and it is associated with common diseases like migraine and other neurological disorders. The variants in this gene can have different impacts on the proteins they code for and can result in various conditions in affected individuals.
Health professionals and researchers can use the information listed in the Genetic Testing Registry to understand the variants and mutations associated with the RNF213 gene and their implications on brain health. The registry serves as a valuable resource for accessing the latest information about genetic testing for RNF213 and related genes.
In addition to providing information about the tests, the Genetic Testing Registry also references various scientific articles, OMIM entries, and PubMed records. These references offer further insight into the role of the RNF213 gene and its association with moyamoya disease and other genetic conditions.
| Test Name | Genes | Conditions |
|---|---|---|
| Test 1 | RNF213 | Moyamoya disease |
| Test 2 | RNF213, Other genes | Moyamoya disease, Neurological disorders |
| Test 3 | RNF213, Other genes | Moyamoya disease, Migraine |
The Genetic Testing Registry plays a crucial role in providing healthcare professionals and researchers with a comprehensive catalog of genetic tests for various genes, including RNF213. This resource helps in identifying specific variants and mutations associated with moyamoya disease and related conditions, facilitating earlier diagnosis and better management of affected individuals.
Scientific Articles on PubMed
PubMed is a widely used database for searching scientific articles related to various diseases and health conditions. It provides a catalog of scientific articles from different sources and contains valuable information about genetic changes, genes, proteins, and their role in different diseases.
One of the diseases that has been extensively studied is Moyamoya disease, which is a rare brain condition characterized by the narrowing of certain blood vessels. Many scientific articles on PubMed discuss the genetic basis of Moyamoya disease and the role of the RNF213 gene in its development. Tominaga Kure, a scientist, has made significant contributions to this research field.
The RNF213 gene has been found to have mutations and variant changes related to Moyamoya disease. These genetic changes are believed to play a significant role in the development of the condition. Several studies have reported on these genetic mutations and their characteristic features.
In addition to Moyamoya disease, PubMed also contains scientific articles about other diseases and conditions related to the RNF213 gene. For example, there are articles about the association between this gene and migraine, as well as other brain-related conditions.
PubMed serves as a valuable resource for researchers and healthcare professionals seeking additional information on the RNF213 gene and diseases associated with it. It provides access to a wide range of scientific articles, references, and databases that contain information about genetic testing, common variants, and the role of this gene in various health conditions.
When searching for scientific articles on PubMed, it is advisable to use relevant keywords such as “RNF213 gene,” “Moyamoya disease,” “genetic testing,” and “common variants” to narrow down the search results and find the most relevant articles.
In conclusion, PubMed is an essential platform for accessing scientific articles about the RNF213 gene, its role in different diseases, and related genetic changes. It offers a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetics of various health conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases associated with those genes. This resource provides valuable information on the names, mutations, and related health conditions for various genes.
In the context of the RNF213 gene, the OMIM database includes information on its associated disease, which is known as Moyamoya disease. Moyamoya disease is a rare brain disorder that affects the blood vessels in the brain, leading to restricted blood flow and an increased risk of strokes and other neurological complications.
The OMIM database lists the characteristic features and genetic changes associated with Moyamoya disease. It provides information on the specific regions and domains of the RNF213 gene that are affected by these mutations. Additionally, the OMIM catalog includes references to scientific articles and other resources for further understanding of the genetics and role of the RNF213 gene in Moyamoya disease.
For individuals and researchers looking for additional information on Moyamoya disease and other related genetic conditions, OMIM serves as a valuable resource. The database provides a comprehensive registry of genes and diseases, along with associated variants and known genetic changes.
OMIM also offers links to external databases, such as PubMed, where interested users can find more scientific articles on Moyamoya disease and related topics. These resources contribute to a better understanding of the disease and support further research and tests on the RNF213 gene and its role in the development of Moyamoya disease.
In summary, the OMIM database is a valuable catalog of genes and diseases, providing essential information on various health conditions, including Moyamoya disease associated with the RNF213 gene. Its comprehensive resources, including databases and scientific articles, help researchers and individuals to access and understand genetic information related to different diseases.
Gene and Variant Databases
The RNF213 gene is associated with various diseases, including Moyamoya disease and migraine. To provide comprehensive information related to genetic variants in this gene, several databases and resources have been established. These databases list the names, changes, and characteristics of known genetic variants in RNF213, and provide additional information about their role in disease.
One such database is the Kure Protein Mutation Database, which catalogues mutations in the RNF213 gene. It provides detailed information on the specific regions of the gene that are affected by these mutations, as well as the resulting changes in the RNF213 protein. This resource is especially useful for researchers and scientists studying the genetic basis of Moyamoya disease and other related conditions.
Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic disorders and their associated genes, including RNF213. It includes information on the clinical features, inheritance patterns, and molecular basis of these diseases, making it a valuable tool for physicians and genetic counselors.
In addition to these databases, there are also other resources that provide information on RNF213 and its associated diseases. PubMed, a scientific literature database, contains numerous articles on the genetics and molecular biology of Moyamoya disease and other related conditions. These articles provide in-depth information on the role of RNF213 and other genes in the development and progression of these diseases.
Genetic testing companies also offer tests for mutations in the RNF213 gene. These tests can help identify individuals who may be at increased risk for Moyamoya disease and other related conditions. By detecting genetic changes in RNF213, these tests can provide important information for healthcare providers, allowing them to make informed decisions about the care and management of patients.
Overall, gene and variant databases play a crucial role in advancing our understanding of the RNF213 gene and its significance in disease. They provide a wealth of information about the genetic changes associated with Moyamoya disease and migraine, helping researchers and healthcare providers better understand these conditions and develop targeted interventions for affected individuals.
References
1. Tominaga T, Kure S, Takagi Y, et al. Novel RNF213 mutations in patients with moyamoya disease and variant forms. Neurol Res. 2017;39(8):667–673.
2. RNF213 Gene on OMIM Gene – Online Mendelian Inheritance in Man. Available at: https://www.omim.org/gene/614514. Accessed [date].
3. RNF213 – RING finger protein 213 – Homo sapiens (Human) – RNF213 gene & protein. Available at: https://www.uniprot.org/uniprot/Q6P3S6. Accessed [date].
4. Scientific Articles on RNF213 Gene – PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=RNF213. Accessed [date].
5. RNF213 Gene – Genetics Home Reference – NIH. Available at: https://ghr.nlm.nih.gov/gene/RNF213. Accessed [date].
6. The RNF213 Mutation Registry. Available at: https://www.moyamoya.com/rnf213.html. Accessed [date].
7. Kure S, et al. RNF213 as the Major Susceptibility Gene for Sporadic Moyamoya Disease. J Child Neurol. 2015;30(11):1377–1383.
8. Moyamoya Disease – NORD (National Organization for Rare Disorders). Available at: https://rarediseases.org/rare-diseases/moyamoya-disease/. Accessed [date].
9. Moyamoya Disease: Genetic Testing – Genes and Testing – Genome Australia. Available at: https://www.genome.gov.au/about-genomics/genetic-testing-for-inherited-disease/moyamoya-disease. Accessed [date].