The MYH9 gene, also known as myosin-9, is associated with various genetic disorders and conditions. This gene plays a crucial role in the production of proteins that are essential for the normal functioning of cells in the body. Mutations and changes in the MYH9 gene have been linked to a range of disorders, including MYH9-related disorders, nonsyndromic hearing loss, and other genetic conditions.
Research and scientific articles on the MYH9 gene can be found in various databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide comprehensive information on the gene, its functions, and its association with different diseases and conditions. The MYH9 gene is cataloged and listed under different names and aliases in these resources, making it easier for researchers and healthcare professionals to access relevant information.
MYH9-related disorders, also known as MYH9-RD, are a group of conditions characterized by mutations in the MYH9 gene. These disorders can affect different organs and body systems, including the kidneys, hearing, and blood cells. The symptoms and severity of MYH9-related disorders can vary widely, ranging from mild to severe.
In addition to MYH9-related disorders, the MYH9 gene has also been associated with other genetic conditions such as nonsyndromic hearing loss. Studies have shown that mutations in the MYH9 gene can cause sensorineural hearing loss, a type of hearing loss that affects the nerves and cells responsible for hearing. Understanding the role of the MYH9 gene in these conditions can help in genetic testing, diagnosis, and management of affected individuals.
In conclusion, the MYH9 gene is an important genetic component that is associated with various disorders and conditions. Research, articles, and resources available on the MYH9 gene provide valuable information on its functions, genetic changes, and its relationship with different diseases. Further research on the MYH9 gene and its associated disorders can contribute to advancements in genetic testing, diagnosis, and treatment of affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the MYH9 gene are associated with a variety of health conditions and disorders. These changes can lead to the loss or alteration of proteins involved in the function of cells in the body. The MYH9 gene is responsible for encoding the non-muscle myosin heavy chain IIA protein, which is involved in cellular movement and adhesion.
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Scientific articles and databases such as PubMed, OMIM, and other resources catalog and provide references to MYH9-related health conditions and disorders. Testing for genetic changes in the MYH9 gene can be done to diagnose or identify risk factors for these conditions. Additional information and resources can be found through these databases and other scientific sources.
Some of the health conditions related to MYH9 gene changes include:
- MYH9-related diseases: A group of genetic disorders that affect different organs and systems in the body. These disorders can include MYH9-related thrombocytopenia, Epstein syndrome, and Fechtner syndrome.
- Nonsyndromic hearing loss: This refers to hearing loss that is not associated with other signs and symptoms. Some cases of nonsyndromic hearing loss have been linked to genetic changes in the MYH9 gene.
- MYH9-related disorders of the kidneys: Genetic changes in the MYH9 gene can also lead to disorders affecting the kidneys, such as MYH9-related nephropathy and Alport-like syndrome.
Genetic testing for MYH9 gene changes can help identify individuals at risk for these conditions and provide valuable information for medical management and treatment.
| Health Condition | Description |
|---|---|
| MYH9-related diseases | A group of genetic disorders that affect different organs and systems in the body, including thrombocytopenia, Epstein syndrome, and Fechtner syndrome. |
| Nonsyndromic hearing loss | Hearing loss not associated with other signs and symptoms, some cases have been linked to genetic changes in the MYH9 gene. |
| MYH9-related disorders of the kidneys | Disorders affecting the kidneys, such as MYH9-related nephropathy and Alport-like syndrome. |
More information about these health conditions and disorders related to genetic changes in the MYH9 gene can be found in scientific articles, databases, and other resources. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of these conditions.
MYH9-related disorder
MYH9-related disorder is a genetic condition that is caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9. This protein is part of a group of proteins called non-muscle myosin. Non-muscle myosins are involved in various cellular processes, including cell movement, cell shape, and cell division.
There are several variants of the MYH9 gene that have been associated with MYH9-related disorder. These variants can result in different changes to the myosin-9 protein, leading to a range of different symptoms and conditions.
MYH9-related disorders can affect various parts of the body, including the kidneys, blood cells, and ears. Some of the conditions associated with MYH9-related disorder include MYH9-related thrombocytopenia (a blood disorder characterized by a low number of platelets), May-Hegglin anomaly (a condition affecting blood cells), and Epstein syndrome (a disorder that affects both blood cells and the kidneys).
Diagnosis of MYH9-related disorder typically involves genetic testing to identify changes in the MYH9 gene. This testing can be done through various methods, including sequencing the gene or looking for specific mutations. Genetic testing can help confirm a diagnosis and provide information about the specific variant of the MYH9 gene involved.
Additional resources for information on MYH9-related disorder can be found in scientific databases and registries. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genes, genetic conditions, and associated changes. PubMed is a database that contains articles on a wide range of scientific and medical topics, including MYH9-related disorders. Other resources may include specific research articles, genetic testing laboratories, and patient support organizations.
Nonsyndromic hearing loss
Nonsyndromic hearing loss refers to hearing loss that occurs without any other associated symptoms or features. It is primarily caused by genetic factors, including mutations in the MYH9 gene. The MYH9 gene, also known as myosin-9, is listed in various genetic databases as a myh9-related disorder. The MYH9 gene encodes for the myosin heavy chain proteins related to non-muscle cells.
Several variants of the MYH9 gene have been identified in individuals with nonsyndromic hearing loss. These changes in the MYH9 gene can lead to abnormalities in the structure and function of the proteins produced by this gene, resulting in impaired hearing.
In the Scientific literature, MYH9 gene mutations are often referenced as causing nonsyndromic hearing loss and are mentioned in articles indexed in the Pubmed database. Additional information on MYH9-related hearing loss can be found in the OMIM catalog, which provides detailed information on genetic disorders.
There are other genes associated with nonsyndromic hearing loss, and changes in these genes can also cause this condition. The names and specific functions of these genes can be found through genetic resources, such as the Human Gene Mutation Database and the Genetic Testing Registry.
Health conditions related to nonsyndromic hearing loss can be further explored by referencing various databases and registers, such as the OMIM catalog and the Genetic Testing Registry. These resources provide comprehensive information on the genetic basis of hearing loss and the associated genes.
| 1. | “MYH9 gene” – OMIM catalog |
| 2. | “MYH9-related disorders” – OMIM catalog |
| 3. | “MYH9-related hearing loss” – Pubmed articles |
| 4. | “Genetic Testing Registry” – Genetic Testing Registry |
| 5. | “Human Gene Mutation Database” – Human Gene Mutation Database |
Other Names for This Gene
- MYH9-related disorders
- Non-muscle myosin heavy chain 9
- MYH9-related genetic disorders
- MYH9-related diseases
- Myosin-9
The MYH9 gene is also known by several other names. These alternative names are often used in scientific articles, publications, and databases to refer to this gene and related conditions. Understanding these different names can be helpful when searching for information or resources related to MYH9-related disorders.
Some of the other names for the MYH9 gene include MYH9-related disorders, Non-muscle myosin heavy chain 9, MYH9-related genetic disorders, MYH9-related diseases, and Myosin-9. These names can be found in scientific literature, databases like PubMed, and genetic testing resources.
The MYH9 gene is associated with a group of genetic disorders known as MYH9-related disorders. These disorders are characterized by changes in the MYH9 gene that lead to the production of abnormal myosin-9 proteins. These proteins are important for the proper functioning of cells in various parts of the body, including the ears, kidneys, and blood cells.
Genetic testing for MYH9-related disorders can help diagnose individuals with these conditions and guide appropriate medical management. The MYH9 gene is listed in various genetic testing catalogs and databases, and there are specific tests available to identify changes in this gene.
In addition to genetic testing, there are several resources available for individuals and families affected by MYH9-related disorders. These resources provide information about the disorders, available treatments and support services, and ongoing research and clinical trials.
The MYH9-related disorders registry is one such resource that collects information from individuals with these conditions to improve understanding and management of MYH9-related disorders. This registry allows individuals and families to connect with others facing similar challenges and provides up-to-date information about the disorders.
Scientific articles and references related to MYH9-related disorders can be found in various scientific journals and publications. These articles provide valuable information about the genetic and molecular aspects of the disorders, as well as potential treatment approaches and ongoing research.
Overall, understanding the various names and resources associated with the MYH9 gene and MYH9-related disorders is important for individuals and families seeking information, testing, and support for these conditions.
Additional Information Resources
For additional information on the MYH9 gene, its related proteins and disorders, and genetic tests, the following resources can be explored:
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Online Mendelian Inheritance in Man (OMIM) Database: This comprehensive database provides detailed information about various genes, including MYH9, their associated disorders, and genetic variations. It also includes references to scientific articles and other relevant resources. Visit the OMIM database at https://www.omim.org/.
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PubMed: PubMed is a vast database of scientific articles. Searching for “MYH9 gene” or related terms can provide access to peer-reviewed research on the gene, its functions, and associated disorders. Explore PubMed at https://pubmed.ncbi.nlm.nih.gov/.
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Genetics Home Reference: This website, maintained by the U.S. National Library of Medicine, offers detailed information about genetic conditions and related genes, including MYH9. It provides a user-friendly overview of various genetic disorders and the latest research in the field. Visit the Genetics Home Reference at https://ghr.nlm.nih.gov/.
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GeneReviews: GeneReviews is a comprehensive resource that provides expert-curated information on genetic conditions, including MYH9-related disorders. It offers in-depth clinical summaries, genetic testing information, and management guidelines. Access GeneReviews at https://www.ncbi.nlm.nih.gov/books/NBK47085/.
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Human Gene Mutation Database (HGMD): HGMD is a valuable resource for exploring mutations and variants in the MYH9 gene and other genes associated with genetic diseases. It contains extensive data on disease-related genetic changes and their impact on health. Learn more about HGMD at https://www.hgmd.cf.ac.uk/.
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Genetic Testing Registry: The Genetic Testing Registry is a centralized database that provides information on genetic tests, their availability, and their utility in diagnosing genetic conditions. It includes information on genetic tests for MYH9-related disorders. Explore the Genetic Testing Registry at https://www.ncbi.nlm.nih.gov/gtr/.
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National Organization for Rare Disorders (NORD): NORD is a leading nonprofit organization that provides information and resources for rare diseases and disorders. Their website offers a wealth of information on MYH9-related conditions, including a patient registry and support networks. Visit NORD at https://rarediseases.org/.
Note that this is not an exhaustive list and there may be other resources available for obtaining additional information on the MYH9 gene and its related disorders. It is recommended to consult with healthcare professionals and genetic counselors for personalized information and guidance.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests for various disorders and conditions. It contains a catalog of tests related to the MYH9 gene, as well as other genes and conditions.
The MYH9 gene is responsible for encoding the non-muscle myosin heavy chain IIA (NMMHC-IIA) protein. Mutations in this gene can lead to MYH9-related disorders, which are a group of diseases characterized by changes in the myosin-9 protein. These disorders can cause various health effects, including hearing loss, non-syndromic congenital hearing loss, and other related conditions.
In the GTR, there are listed tests specifically for MYH9-related disorders, which can provide additional genetic information about this gene. These tests can help identify specific genetic variants and changes in the MYH9 gene that may be associated with the development of these disorders.
Some of the tests listed in the GTR include:
- MYH9 Gene Sequencing: This test analyzes the DNA sequence of the MYH9 gene to identify any genetic variants or changes.
- MYH9 Protein Expression Studies: This test examines the expression of the MYH9 protein in cells to determine any abnormal patterns or levels.
- MYH9 Gene Deletion/Duplication Analysis: This test looks for any large deletions or duplications in the MYH9 gene that may be associated with the disorders.
These tests can provide valuable information for diagnosing MYH9-related disorders and informing treatment plans. They can also be useful for research purposes and further understanding the genetic basis of these conditions.
In addition to the GTR, other scientific databases and resources like PubMed and OMIM may contain articles, references, and additional information about MYH9-related disorders and genetic testing. These resources can further contribute to the knowledge and understanding of MYH9-related disorders and the genetic variants associated with them.
Overall, the tests listed in the Genetic Testing Registry offer valuable genetic information for MYH9-related disorders and can be instrumental in diagnosing and managing these conditions.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the MYH9 gene. Here, you can find a wealth of information about the loss or changes of function in MYH9 and its related proteins, as well as their association with various disorders and diseases. PubMed is an extensive database that catalogues articles from a wide range of scientific fields, allowing researchers and healthcare professionals to stay up-to-date on the latest findings in the field of MYH9-related disorders.
MYH9-related disorders are a group of genetic conditions caused by mutations in the MYH9 gene. This gene encodes for the non-muscle myosin heavy chain IIA (NMHC-IIA) protein, which is involved in the contraction and movement of cells. Mutations in MYH9 can lead to a range of health problems, including hearing loss, kidney disorders, and thrombocytopenia (low platelet count).
The MYH9 gene is located on chromosome 22q12.3-q13.1 and codes for the NMHC-IIA protein, which is primarily expressed in cells of the kidney, inner ear, and bone marrow. Changes in this protein can affect the development and function of these organs, leading to the symptoms observed in MYH9-related disorders.
The MYH9-related disorders are also known as MYH9-related thrombocytopenia, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome. These disorders are characterized by a spectrum of symptoms, including thrombocytopenia, hearing loss, and kidney abnormalities. Individuals with MYH9-related disorders may experience a variable range of symptoms and severity.
When searching for scientific articles on PubMed, using the key terms “MYH9 gene” or “MYH9-related disorders” is recommended. This will bring up a list of articles that have been published on these topics. The articles listed in PubMed include a variety of resources such as original research papers, reviews, case studies, and more.
PubMed is a valuable tool for staying informed about the latest discoveries and advancements in the field of MYH9-related disorders. Researchers and healthcare professionals can use this resource to find additional information, references, and testing resources for genetic testing. OMIM is another useful database that provides detailed information on genes, genetic disorders, and related research. It is a helpful resource to supplement information obtained from PubMed.
In conclusion, PubMed is an essential resource for accessing scientific articles related to the MYH9 gene and MYH9-related disorders. By searching PubMed, researchers and healthcare professionals can find relevant information on the genetics, symptoms, and management of these conditions. The articles listed on PubMed provide valuable insights into the pathophysiology and treatment options for MYH9-related disorders, as well as references for further research.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of scientific articles, genetic resources, and information on genes and diseases. It is a valuable tool for researchers and healthcare professionals looking to enhance their understanding of various genetic disorders.
The OMIM database is organized based on gene names, and each gene is listed with its corresponding OMIM number. The database includes a wide range of genetic disorders, including myh9-related disorders.
Genetic changes in the MYH9 gene, which codes for non-muscle myosin-9 proteins, are linked to various conditions. These conditions can include nonsyndromic hearing loss (DFNA17), Epstein syndrome, May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome.
The catalog provides detailed information about each condition linked to the MYH9 gene, including the inheritance pattern, clinical features, and associated genetic variants. It also includes references to scientific articles, OMIM numbers, and other databases that contain additional information about each disorder.
In addition to information on myh9-related disorders, the catalog also contains data on various other genetic conditions. It serves as a central registry for researchers and healthcare professionals, providing a wealth of information on genes and diseases.
The OMIM database offers various resources for genetic testing, including diagnostic tests and research testing options. These tests can help identify genetic changes in the MYH9 gene and other relevant genes associated with different diseases.
Researchers and healthcare professionals can access the OMIM database through the official website. The database provides an easy-to-navigate interface, allowing users to search for specific genes or diseases of interest.
Overall, the OMIM catalog is a valuable tool for researchers, healthcare professionals, and anyone interested in genetic disorders. It provides comprehensive information on myh9-related disorders, as well as various other genetic conditions. By utilizing the resources available in the OMIM database, researchers and healthcare professionals can enhance their knowledge and understanding of genetic diseases.
Gene and Variant Databases
When studying the MYH9 gene, it is crucial to consult various gene and variant databases to gather relevant information. These databases contain comprehensive information about the listed genes and their genetic variants.
The PubMed database, a widely used scientific resource, hosts a vast collection of articles that provide detailed information on MYH9 gene mutations. It serves as a valuable reference for research on this gene and related disorders.
In addition to PubMed, several other databases focus specifically on genetic conditions and provide in-depth resources on the MYH9 gene and its variants. Some of these databases include the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR).
The OMIM database catalogues various genetic disorders and provides detailed information about the genes and associated variant changes. It highlights the connections between MYH9-related disorders and other diseases, such as MYH9-related non-syndromic hearing loss.
The GTR database, on the other hand, emphasizes genetic testing information. It lists the available tests for MYH9-related disorders and provides access to laboratories that offer these tests. It also includes references to scientific publications related to MYH9 and its variants.
Not only do these databases provide valuable information about the MYH9 gene and its variants, but they also serve as resources for researchers, healthcare professionals, and individuals seeking information about genetic health conditions.
Furthermore, databases like OMIM and GTR offer additional resources, such as links to articles, references, and more extensive genetic information on the MYH9 gene and its variants.
| Database | Description |
|---|---|
| PubMed | A comprehensive scientific resource containing articles and references related to the MYH9 gene and its variants. |
| OMIM | Provides detailed information about genetic disorders, including MYH9-related conditions, and their associated genetic variant changes. |
| GTR | Focuses on genetic testing information, listing available tests for MYH9-related disorders and providing access to testing laboratories. |
Consulting these gene and variant databases is essential for researchers and healthcare professionals to gather accurate and up-to-date information about the MYH9 gene, its variants, and associated disorders.
References
- OMIM. (2021). MYH9 gene. Retrieved from https://omim.org/entry/160775
- MYH9 – Myosin-9 – Homo sapiens (Human) – MYH9 gene & protein. (n.d.). Retrieved from https://www.uniprot.org/uniprot/P35579
- The MYH9 Human Gene Mutation Database. (n.d.). Retrieved from http://www.myh9.org/
- MYH9 gene. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/4627
- MYH9-related disorders. (2021). Retrieved from https://ghr.nlm.nih.gov/condition/myh9-related-disorders
- MYH9 gene – Genetics Home Reference – NIH. (2021). Retrieved from https://ghr.nlm.nih.gov/gene/MYH9