Contents
[hide]
[show]

MYH9-related disorder is a rare genetic condition that affects a small percentage of individuals worldwide. It is caused by mutations in the MYH9 gene, which codes for a protein called myosin-9. This protein plays a crucial role in the function of cells, particularly in the blood, kidneys, and hearing.

People with MYH9-related disorder may experience a wide range of symptoms, including hearing loss, kidney problems, and abnormal bleeding. The severity and specific symptoms can vary greatly from patient to patient.

Scientific research and genetic testing have provided important insights into MYH9-related disorder. Studies have identified additional genes that are associated with this condition, and research is ongoing to learn more about its inheritance patterns and underlying mechanisms.

There are several resources available for individuals and families affected by MYH9-related disorder. The Online Mendelian Inheritance in Man (OMIM) database contains detailed information about the condition, including references to scientific articles and other sources of information. PubMed, a database of scientific publications, also has many articles about MYH9-related disorder. Advocacy organizations and support groups can provide additional support and resources.

Frequency

MYH9-related disorder is a rare genetic condition that affects individuals from different ethnic backgrounds. It is estimated to occur in about 1 in 1 million people.

According to articles and research, MYH9-related disorder is thought to be an autosomal dominant inheritance with variable expressivity. This means that individuals who inherit a mutation in the MYH9 gene from one of their parents have a 50 percent chance of inheriting the disorder. However, the severity and specific symptoms of the condition can vary widely among affected individuals.

Given the high cost of medical care, it’s hardly a shock that patients are drowning in medical debt. Almost 20% of American households have delinquent medical bills that affect their credit report, according to NBC News. Having medical bills in collections makes it more difficult for patients to engage in other economic activities, such as purchasing a home or securing a loan to start a business.

Studies have shown that MYH9-related disorder is associated with mutations in the MYH9 gene, which encodes a protein called myosin-9. These mutations result in abnormal function of myosin-9 in cells, leading to the signs and symptoms of the disorder.

MYH9-related disorder is characterized by a group of conditions, including May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. Although these names are often used interchangeably, they represent slightly different presentations of the disorder.

MYH9-related disorder can present with a variety of clinical features, including bleeding problems, hearing loss, and kidney disease. Additional research is ongoing to learn more about the causes and underlying mechanisms of these clinical manifestations.

Testing for MYH9-related disorder is available and can be done through genetic testing of the MYH9 gene. The results can provide valuable information for diagnosis and management of affected individuals.

Support and advocacy resources are available for individuals and families affected by MYH9-related disorder. These resources can provide information, patient support, and access to clinical trials and research studies on the condition.

References and additional resources for MYH9-related disorder can be found on scientific databases such as PubMed and OMIM, as well as through organizations like the Genetic and Rare Diseases Information Center and ClinicalTrials.gov.

In conclusion, MYH9-related disorder is a rare genetic disease associated with mutations in the MYH9 gene. It occurs in about 1 in 1 million people and is inherited in an autosomal dominant manner. The disorder can present with a range of clinical features, and testing for the MYH9 gene can provide diagnostic and management information. Support and advocacy resources are available for individuals and families affected by MYH9-related disorder.

Causes

MYH9-related disorder is caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9. Myosin-9 is an essential component of cells and is involved in various cellular processes, including cell movement, division, and shape.

Studies have shown that mutations in the MYH9 gene can lead to the production of a faulty myosin-9 protein, which impairs its normal function. This dysfunction of myosin-9 affects various organs and tissues in the body, leading to the different features and symptoms observed in individuals with MYH9-related disorder.

MYH9-related disorder is inherited in an autosomal dominant manner, which means that a mutation in one copy of the MYH9 gene is sufficient to cause the condition. In some cases, the mutation arises spontaneously in an affected individual with no family history of the disorder.

The exact mechanisms by which mutations in the MYH9 gene cause MYH9-related disorder are not fully understood, and more research is needed in this area.

For additional information about the causes of MYH9-related disorder, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders. You can search for “MYH9” to learn more about the gene and associated disorders.
  • PubMed: A database of scientific research articles. You can search for “MYH9-related disorder” to find relevant studies and references.
  • ClinicalTrials.gov: A resource for information about clinical trials. You can search for ongoing trials related to MYH9-related disorder.

Learn more about the gene associated with MYH9-related disorder

MYH9-related disorder is a rare group of genetic disorders characterized by a range of clinical features, including bleeding disorders, hearing loss, kidney problems, and abnormalities of platelets and other blood cells. These disorders are caused by mutations in the MYH9 gene.

The MYH9 gene provides instructions for making the myosin-9 protein, which plays a role in the contraction and movement of muscles. This protein is particularly important in certain cells, such as those found in the kidneys, ears, and blood vessels.

MYH9-related disorders are inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is sufficient to cause the disorder. In some cases, the genetic change arises for the first time in an affected individual, as a spontaneous mutation.

MYH9-related disorders are very rare, with an estimated frequency of less than 1 in 1 million individuals. These disorders were first described in the scientific literature in the 1960s, and since then, more than 25 different mutations in the MYH9 gene have been identified. Various names have been used to describe these disorders, including May-Hegglin anomaly, Sebastian syndrome, and Epstein syndrome. However, it is now recognized that these different names represent different presentations of the same underlying condition, MYH9-related disorder.

See also  Floating-Harbor syndrome

MYH9-related disorder is typically diagnosed based on the presence of characteristic signs and symptoms, as well as genetic testing to confirm the presence of a mutation in the MYH9 gene. Additional resources for information about MYH9-related disorder and related genetic testing can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed and ClinicalTrials.gov.

Research studies on MYH9-related disorder and other related diseases are ongoing to learn more about the causes, inheritance patterns, and functional effects of the MYH9 gene mutations. These studies help advance our understanding of these rare disorders and may contribute to the development of new treatments and support for affected individuals and families.

In conclusion, MYH9-related disorder is a rare genetic condition associated with mutations in the MYH9 gene. These disorders present with a wide range of clinical features and are inherited in an autosomal dominant pattern. Scientific research and advocacy organizations provide support and resources for individuals affected by MYH9-related disorder.

Inheritance

MYH9-related disorder is an autosomal dominant genetic disorder caused by mutations in the MYH9 gene. This gene provides instructions for making a protein called myosin-9, which is important for the normal functioning of cells. Mutations in the MYH9 gene can result in a range of disorders, including MYH9-related hearing disorders and other related diseases.

MYH9-related disorder is inherited in an autosomal dominant manner, which means that a mutation in one copy of the MYH9 gene in each cell is sufficient to cause the condition. In some cases, an affected individual inherits the mutation from an affected parent. In other cases, the mutation occurs for the first time in the affected individual and is not inherited from a parent.

Genetic testing can be done to confirm the diagnosis of MYH9-related disorder. This typically involves sequencing the MYH9 gene to look for mutations. Genetic counselors and other healthcare professionals can provide information and support for individuals considering genetic testing.

There are several resources available to learn more about MYH9-related disorder and to support individuals and families affected by the condition. These include scientific research articles published in PubMed, the OMIM database, which provides information on genetic disorders and associated genes, and advocacy organizations that provide resources and support for patients and families. Additional information on ongoing research studies and clinical trials can be found on clinicaltrialsgov.

It is important for individuals with MYH9-related disorder to receive regular medical check-ups and to seek appropriate medical care for any symptoms or complications of the condition. Treatment options may include management of hearing disorders, monitoring of kidney function, and supportive care for other associated health issues.

References:

  • Miura, K. et al. (2019). MYH9-related disorder. In: GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK475594/
  • MYH9 gene. (n.d.). Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/gene/MYH9
  • MYH9. (2020). OMIM. Available from: https://www.omim.org/entry/160775

Other Names for This Condition

MYH9-related disorder is also known by several other names:

  • MYH9-related disease
  • May-Hegglin anomaly
  • Epstein syndrome
  • Fechtner syndrome
  • Sebastian syndrome

These names refer to a group of rare genetic disorders that are caused by mutations in the MYH9 gene. The MYH9 gene provides instructions for making a protein called myosin-9, which is involved in the function of certain cells in the body.

MYH9-related disorders have different inheritance patterns, but they are all thought to be associated with mutations in the MYH9 gene. Most cases are inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the disorder. In some cases, the disorder can also occur as a new mutation in an individual with no family history of the condition.

MYH9-related disorders can cause a wide range of symptoms, including problems with blood clotting, hearing loss, kidney abnormalities, and vision problems. The severity and specific symptoms can vary widely from person to person.

There are currently no known cures for MYH9-related disorders, but there are treatments available to manage symptoms and support the overall health and well-being of affected individuals. It is important for individuals with MYH9-related disorders to work closely with healthcare professionals who specialize in these conditions to develop an appropriate treatment plan.

Additional information and resources about MYH9-related disorders can be found through the National Library of Medicine’s Genetics Home Reference and OMIM websites, as well as through advocacy and support organizations like the Myosin-9 Disorders Support and Research Center.

References:

  1. Genetics Home Reference. MYH9-related disorder. Retrieved from https://ghr.nlm.nih.gov/condition/myh9-related-disorder
  2. OMIM. MYH9-related disease. Retrieved from https://omim.org/entry/155100
  3. Myosin-9 Disorders Support and Research Center. Retrieved from http://www.myh9disorders.org/
  4. PubMed. MYH9-related disease – ClinicalTrials.gov. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=MYH9-related+disease

Additional Information Resources

Inheritance: MYH9-related disorder is an autosomal dominant genetic disorder. This means that an affected individual has a 50% chance of passing on the genetic mutation to each of their children.

Names: MYH9-related disorder is also known as May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome.

Catalog of Genes and Diseases: To learn more about the genetic basis of MYH9-related disorder and related diseases, you can consult resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews.

Genetic Testing: Genetic testing can confirm a diagnosis of MYH9-related disorder. Testing can be done to identify mutations in the MYH9 gene.

ClinicalTrials.gov: This website provides information on ongoing clinical trials for MYH9-related disorder and other genetic disorders. It is a valuable resource for individuals seeking clinical trials or research studies for this condition.

Support and Advocacy: There are advocacy organizations that provide information and support to individuals and families affected by MYH9-related disorder. These organizations can provide resources such as support groups, educational materials, and research updates.

Patient Resources: There are several scientific articles and resources available that provide additional information about MYH9-related disorder and related conditions. PubMed is a database of scientific articles that can be used to find relevant research studies and publications.

Hearing Loss: Hearing loss is a common symptom in individuals with MYH9-related disorder. If you or someone you know is experiencing hearing loss, it is important to seek medical evaluation and support from a hearing specialist.

See also  3q29 microdeletion syndrome

Functional Studies: Research studies are being conducted to understand the functional implications of the MYH9 gene mutation in MYH9-related disorder. These studies aim to uncover the underlying mechanisms of the disease and develop potential targeted therapies.

Myosin-9 Gene: MYH9-related disorder is caused by mutations in the MYH9 gene, which provides instructions for making a protein called myosin-9. Mutations in this gene affect the structure and function of myosin-9 in cells, leading to the symptoms and characteristics of the disorder.

Tiny Organs Called Cells: MYH9-related disorder affects the function of tiny organs called cells. The abnormalities in these cells can lead to a variety of symptoms, such as bleeding problems, kidney dysfunction, and hearing loss.

Frequency: MYH9-related disorder is a rare condition, with an estimated prevalence of less than 1 in 1 million individuals in the general population.

References:

  • Omim.org – MYH9-Related Disorders
  • PubMed – MYH9-Related Disorders

Citation: Miura, N., & Yoshida, K. (2016). MYH9-related disease. Internal medicine (Tokyo, Japan), 55(6), 579–585. doi:10.2169/internalmedicine.55.5662

Genetic Testing Information

Genetic testing is an essential tool to learn more about MYH9-related disorders, which are a group of rare genetic conditions caused by mutations in the MYH9 gene. These disorders are inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.

The MYH9-related disorders are listed on the Online Mendelian Inheritance in Man (OMIM) database, a comprehensive catalog of inherited disorders. They are classified under a condition called “MYH9-related disorder,” which includes a range of diseases characterized by defects in the MYH9 gene.

Various studies and research have been conducted to better understand these rare disorders. Scientific articles and research papers can be found on PubMed, a leading database of biomedical literature. In addition, many patient advocacy groups and research centers provide valuable resources for individuals and families affected by MYH9-related disorders.

One of the main characteristics of MYH9-related disorders is the risk of hearing loss. Myosin-9, a protein encoded by the MYH9 gene, plays a crucial role in the function of cells in the inner ear. Therefore, genetic testing is particularly important for hearing loss patients, as they can identify if they have a MYH9-related disorder.

Genetic testing for MYH9-related disorders can be done through a blood sample or a cheek swab. The genetic testing analyzes the MYH9 gene for mutations or changes that are known to cause these disorders. This information can help individuals and their healthcare providers understand the cause of their symptoms and plan appropriate treatment strategies.

ClinicalTrials.gov is a useful resource for finding ongoing clinical trials related to MYH9-related disorders. These trials aim to further investigate the causes, inheritance patterns, and potential treatments for these diseases.

In summary, genetic testing provides vital information about MYH9-related disorders. It guides diagnosis, helps understand inheritance patterns, and allows individuals to learn more about their condition and available treatment options. By exploring the scientific literature and utilizing patient advocacy resources, individuals affected by MYH9-related disorders can find support, additional information, and connect with others who share similar experiences.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource center that provides information about genetic and rare diseases. GARD offers an array of resources for individuals and families affected by myh9-related disorders.

Myh9-related disorders:

  • Myh9-related disorder is a rare genetic condition that is caused by mutations in the MYH9 gene.
  • These disorders include May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome.
  • They are all characterized by abnormal blood cells due to dysfunctional myosin-9 protein.
  • Individuals with myh9-related disorders may present with varying symptoms, including bleeding disorders, hearing loss, and tiny abnormal structures in the cells called Döhle bodies.

Inheritance and Frequency:

  • Myh9-related disorders are inherited in an autosomal dominant manner, meaning that an affected individual has a 50 percent chance of passing on the mutated gene to each of their children.
  • The frequency of myh9-related disorders is estimated to be approximately 1 in 1 million individuals.

Support and Resources:

  • For more information about myh9-related disorders, GARD provides a comprehensive catalog of genetic and rare diseases.
  • Additional resources and support can be found through patient advocacy groups and online communities.

Research and Clinical Trials:

  • Scientific studies and research articles about myh9-related disorders can be found on PubMed and OMIM.
  • Genetic testing is available to confirm the diagnosis of myh9-related disorders.
  • Clinical trials may be available to individuals interested in participating in research studies.
  • Information about ongoing clinical trials can be found on ClinicalTrials.gov.

Causes and Genetic Testing:

  • Myh9-related disorders are caused by mutations in the MYH9 gene, which provides instructions for making the myosin-9 protein.
  • Genetic testing can identify the specific mutation in the MYH9 gene and confirm the diagnosis of myh9-related disorders.

Learn More:

  • To learn more about myh9-related disorders, please visit the Genetic and Rare Diseases Information Center.
  • References and additional information can be found on the GARD website.

Patient Support and Advocacy Resources

For patients and individuals with MYH9-related disorder, there are several resources available to provide support and advocacy. These resources aim to assist patients in navigating their condition and offer information on available treatments, research studies, and support networks. Here are some recommended resources:

  • Online Articles: Online articles on MYH9-related disorder can provide valuable information about the condition, including its symptoms, frequency, and associated complications. These articles can be found on various websites and medical platforms, such as OMIM and thought catalog.
  • Genetic Testing: It is essential for individuals with MYH9-related disorder to undergo genetic testing to confirm the diagnosis. Genetic testing can identify mutations in the MYH9 gene, which is responsible for this autosomal dominant condition.
  • Support Organizations: There are various advocacy and support organizations that focus on rare diseases, including MYH9-related disorder. These organizations can provide helpful information, resources, and support networks for patients and their families.
  • Clinical Trials: Research studies and clinical trials provide opportunities for individuals with MYH9-related disorder to participate in the development of new treatments and therapies. ClinicalTrials.gov is an excellent resource for finding ongoing clinical trials related to this disorder.
  • Scientific References: Scientific literature and research papers are essential sources of information for understanding MYH9-related disorder. PubMed is a widely used database that provides access to numerous scientific publications on this condition.
See also  Craniofacial-deafness-hand syndrome

By utilizing these resources, patients can learn more about MYH9-related disorder, its inheritance pattern, and available management options. The support and advocacy provided by these organizations can significantly improve the quality of life for individuals with this rare genetic condition.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding research studies related to myh9-related disorder and other genetic diseases. Research studies provide important scientific information and can help advance our understanding of these rare conditions.

Research studies on myh9-related disorder aim to investigate the functional aspects of the MYH9 gene and its associated diseases. The MYH9 gene encodes for the protein myosin-9, which is involved in various cellular processes. Mutations in this gene can lead to the development of myh9-related disorder, a rare autosomal dominant disorder.

One of the key research studies available on ClinicalTrials.gov is the study titled “Clinical and Genetic Studies of MYH9-Related Disorders” (NCT01253707). This study aims to learn more about the clinical manifestations and genetic characteristics of MYH9-related disorders in individuals.

The study involves the collection of clinical data from patient medical records and genetic testing to identify MYH9 gene mutations. The researchers will analyze the frequency and inheritance patterns of these mutations, as well as their association with various clinical features, such as hearing loss and kidney disease.

The research study also provides additional resources for individuals and families affected by myh9-related disorder. These resources include information about advocacy and support groups, as well as links to scientific articles from PubMed. PubMed is a database that contains a vast collection of scientific research articles on various diseases and genetic disorders.

Some of the scientific articles related to myh9-related disorder and the MYH9 gene can be found in the OMIM catalog. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about the genetic basis of human diseases.

Overall, research studies from ClinicalTrials.gov offer valuable insights into the genetic basis, clinical features, and management options for myh9-related disorder. They also serve as a platform for individuals and families affected by this rare condition to learn more about the disease and connect with relevant resources and support.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive catalog of genes and diseases, providing valuable information about rare and genetic disorders. One such disorder is MYH9-related disorder, also known as MYH9-RD. This autosomal dominant condition is caused by mutations in the MYH9 gene, which codes for myosin-9.

MYH9-RD is associated with a variety of clinical features, including macrothrombocytopenia (a reduction in the number of large platelets), hearing loss, and kidney dysfunction. These symptoms vary in severity and can manifest differently in affected individuals.

To learn more about MYH9-related disorder, researchers and healthcare providers can refer to OMIM for additional resources. OMIM provides a wealth of information, including references to relevant research articles, clinical trials, and patient advocacy groups. These resources support the understanding and management of this rare disease.

In addition to MYH9-related disorder, OMIM catalogs many other genetic diseases. The website provides detailed information about each condition, including inheritance patterns, clinical features, and genetic testing options. Individuals seeking information about a specific rare disease can search the OMIM database using the disease name or the associated gene.

OMIM references support this information with citation to scientific studies and other authoritative sources. The resources available on OMIM make it a valuable center for research, learning, and support for genetic diseases and rare disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the condition known as MYH9-related disorder. This rare genetic disorder is caused by mutations in the MYH9 gene and is inherited in an autosomal dominant manner.

There are more than 200 scientific articles on PubMed that provide information about MYH9-related disorder. These articles discuss various aspects of the condition, including its causes, clinical presentation, genetic testing, and associated diseases.

Many of these studies also explore the functional consequences of MYH9 gene mutations and the role of myosin-9 (the protein encoded by the MYH9 gene) in different cell types. Some articles focus on specific symptoms of the disorder, such as hearing loss or kidney problems.

In addition to scientific articles, PubMed also provides access to other resources related to MYH9-related disorder. These resources include advocacy organizations, clinical trial information, and references to related diseases.

One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genetic and clinical features of MYH9-related disorder, as well as links to relevant scientific articles.

The frequency of MYH9-related disorder is estimated to be less than 1 in 1 million individuals. However, the disorder is thought to be underdiagnosed, and its true frequency may be higher.

In conclusion, PubMed is a valuable source of scientific articles and other resources for learning more about MYH9-related disorder. The articles provide insights into the genetic, clinical, and functional aspects of this rare genetic disorder, and support ongoing research and advocacy efforts.

References

  • Gurney, S.M., et al. “MYH9-related disorders: a case series of 26 individuals and a review of the literature.” The Open Rheumatology Journal 7 (2013): 7-15.

  • Kunishima, S., et al. “RNAi-mediated silencing of MYH9 in hematopoietic cells from patients with MYH9-related diseases.” Annals of Hematology 91.11 (2012): 1721-1726.

  • Seri, M., et al. “MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.” Medicine 82.3 (2003): 203-215.

  • Pecci, A., et al. “MYH9-related disorders: a spectrum of phenotypes.” Nephrology, Dialysis, Transplantation 24.11 (2009): 3315-3322.

  • Sekine, T., et al. “MYH9 disorder is due to a gain of function mutation in the Myosin heavy chain IIa gene.” Blood 113.14 (2009): 3130-3136.

  • Reich, E.P., et al. “MYH9-related disorder: expanding the clinical spectrum.” American Journal of Hematology 86.9 (2011): 804-806.

  • “MYH9-related disorder.” Genetics Home Reference. U.S. National Library of Medicine, Available from https://ghr.nlm.nih.gov/condition/myh9-related-disorder.

  • “MYH9-related disorders.” Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services, Available from https://rarediseases.info.nih.gov/diseases/8295/myh9-related-disorders.

  • “MYH9-related disease.” OMIM. Johns Hopkins University, Available from https://omim.org/entry/155100.

  • “MYH9 gene.” Genetics Home Reference. U.S. National Library of Medicine, Available from https://ghr.nlm.nih.gov/gene/MYH9.

Related Posts