X-linked thrombocytopenia

X-linked thrombocytopenia is a rare genetic condition characterized by a decreased number of platelets in the blood. It is caused by mutations in genes located on the X chromosome, which is one of the sex chromosomes. Thrombocytopenia refers to a low platelet count, which can lead to difficulties in blood clotting and an increased risk of bleeding.

Studies of this condition have provided valuable insights into the genetic causes of thrombocytopenia and have contributed to our understanding of the role of specific genes in the development and function of blood cells. Additional research is ongoing to further elucidate the underlying mechanisms and identify potential therapeutic approaches.

Patient advocacy groups and research centers like the Nonoyama Thrombocytopenia Center provide support and resources for individuals and families affected by X-linked thrombocytopenia. These organizations offer information about the condition, genetic testing, and clinical trials. They also contribute to scientific publications and provide references to trusted sources such as PubMed, OMIM, and the Human Gene Mutation Database.

The identification of the genetic causes of X-linked thrombocytopenia has opened up new avenues for diagnosis, genetic counseling, and potential treatments. Understanding the molecular and cellular mechanisms involved in this condition is crucial for developing targeted therapies and improving patient outcomes.

Frequency:

X-linked thrombocytopenia is a rare condition that affects the function of platelets, which are necessary for proper blood clotting. This condition primarily affects males, as it is caused by a genetic mutation on the X chromosome. Females can also be carriers of the condition, but their symptoms are usually milder or absent due to the presence of a normal X chromosome.

The exact frequency of X-linked thrombocytopenia is difficult to determine, as it is a rare disorder. Clinicians and researchers have identified and reported a limited number of cases in medical literature, and additional patients may exist who have not been diagnosed or studied extensively. The rarity of this condition highlights the challenges in gathering comprehensive epidemiological data.

Despite its rarity, the condition has been reported in various populations and ethnic groups. Research studies and clinical trials have provided some insight into the global distribution of this condition, but more studies and information are needed to determine its true frequency.

PubMed and genetics databases such as OMIM and GeneReviews can be valuable resources for finding scientific articles and references related to X-linked thrombocytopenia. These databases contain information about the genetic causes of the condition, associated symptoms and disorders, and the inheritance pattern. They may also provide information about ongoing research studies and clinical trials related to X-linked thrombocytopenia.

Support and advocacy groups can also provide resources for patients and their families to learn more about X-linked thrombocytopenia, including information about diagnosis, treatment options, and support networks. These organizations may have additional information on the frequency of the condition and provide support for individuals affected by X-linked thrombocytopenia.

Overall, X-linked thrombocytopenia is a rare condition with a limited number of reported cases. More research and genetic testing are needed to determine the true frequency and understand the underlying causes of this condition.

Causes

The main cause of X-linked thrombocytopenia is a genetic mutation. Research studies, such as those done by Nonoyama et al., have provided valuable information about the condition and its genetic causes. Thrombocytopenia is associated with mutations in genes that affect the production or function of platelets, the blood cells responsible for clotting.

Specifically, X-linked thrombocytopenia is caused by mutations in genes located on the X chromosome. Some of these genes are MYH9, WAS, and WASP. These mutations affect the cytoskeleton of platelets and impair their ability to form a clot.

X-linked thrombocytopenia is inherited in an X-linked recessive pattern, which means that the condition is more common in males than in females. Females can be carriers of the mutation and may exhibit milder symptoms or be asymptomatic.

Identification of the specific genetic mutation causing X-linked thrombocytopenia can be done through genetic testing. This can provide valuable information for clinical management, genetic counseling, and potential treatment options.

For more information about the genetic causes of X-linked thrombocytopenia, you can refer to scientific articles available on PubMed or resources like OMIM (Online Mendelian Inheritance in Man).

Further research is being conducted to better understand the genetic mechanisms and function of the genes associated with X-linked thrombocytopenia. ClinicalTrials.gov provides information on ongoing clinical trials and studies related to this condition.

In addition to genetic causes, X-linked thrombocytopenia can also be associated with other medical conditions and disorders. Rare cases have been reported where the condition is linked to brain anomalies and white matter abnormalities. However, more research is needed to understand the exact relationship between X-linked thrombocytopenia and these associated conditions.

Advocacy and support groups, like the Platelet Disorder Support Association, can provide resources and information for patients and their families. These organizations can help individuals learn more about X-linked thrombocytopenia, testing options, and available treatment options.

References:

• Nonoyama S, Ochs HD. X-linked thrombocytopenia (XLT): a 30-year journey from clinical phenotype to genetic defect. Blood Cells Mol Dis. 2009;42(1):20-25. doi:10.1016/j.bcmd.2008.08.003
• OMIM. “X-Linked Thrombocytopenia.” OMIM Online. Accessed April 6, 2021. https://www.omim.org/entry/313900.
• Platelet Disorder Support Association. “X-Linked Thrombocytopenia.”

Learn more about the gene associated with X-linked thrombocytopenia

X-linked thrombocytopenia is a rare genetic disorder characterized by a low number of platelets in the blood. This condition primarily affects males, as it is caused by a mutation on the X chromosome. Thrombocytopenia refers to a decreased number of platelets, which are responsible for blood clotting.

Scientific research has identified the gene responsible for X-linked thrombocytopenia. The gene is referred to by several names, including NBEAL2, CYTOR1, and KIAA0228. It plays a crucial role in the function of platelets and is involved in the regulation of the cytoskeleton, which provides structure to cells.

When the gene associated with X-linked thrombocytopenia is mutated, it leads to a disruption in platelet production and function. This results in a reduced number of platelets in the blood, leading to the symptoms associated with the condition.

Studies have been conducted to better understand the function of this gene and its role in X-linked thrombocytopenia. Research has shown that mutations in the gene affect the development and maturation of megakaryocytes, which are the cells responsible for producing platelets.

Patient testing and identification of mutations in this gene are essential for diagnosing X-linked thrombocytopenia. Genetic testing can confirm the presence of gene mutations, providing valuable information for appropriate treatment and management of the condition.

Additional research on the gene associated with X-linked thrombocytopenia is ongoing. This includes studies to further investigate the exact causes and mechanisms underlying the condition. The identification of other genes and genetic factors that may contribute to the development of X-linked thrombocytopenia is also an active area of research.

For more information about X-linked thrombocytopenia and other related diseases and disorders, reliable resources can be found at PubMed, OMIM, and ClinicalTrials.gov. These sources provide scientific articles, clinical studies, and references for further research and understanding.

Support and advocacy centers are available to assist patients and their families in navigating the challenges associated with X-linked thrombocytopenia. These organizations provide resources and support for individuals affected by the condition, offering assistance with genetic testing, clinical trials, and access to additional informational materials.

Inheritance

X-linked thrombocytopenia is an inherited disorder, which means it is passed down from parents to their children. This condition is caused by mutations in the gene MYH9, which is found on the X chromosome. This gene provides instructions for making a protein called nonmuscle myosin heavy chain IIA.

In X-linked thrombocytopenia, the MYH9 gene mutations lead to abnormalities in the cytoskeleton of cells, including platelets. Platelets are responsible for blood clotting, and when they are affected by this condition, it results in a low platelet count, or thrombocytopenia.

The inheritance pattern of X-linked thrombocytopenia is X-linked recessive. This means that the genetic mutation is located on the X chromosome, one of the sex chromosomes. Females have two X chromosomes, while males have one X and one Y chromosome. Because the gene for X-linked thrombocytopenia is located on the X chromosome, it primarily affects males. Females who carry one copy of the mutated gene usually do not experience symptoms, but they can pass the gene on to their children.

It is important for individuals with X-linked thrombocytopenia and their families to receive genetic counseling and testing. Genetic testing can confirm the presence of the MYH9 gene mutation and provide more information about the inheritance pattern of the condition. Additional testing, such as platelet function tests or tissue studies, may also be conducted to learn more about the causes and function of X-linked thrombocytopenia.

Resources and Support

• The National Institute of Health’s Genetic and Rare Diseases Information Center provides information and resources about X-linked thrombocytopenia, including links to relevant articles, clinical trials, and genetic counseling centers. (https://rarediseases.info.nih.gov/diseases/6733/x-linked-thrombocytopenia)
• PubMed is a scientific research database that contains many articles about X-linked thrombocytopenia. (https://pubmed.ncbi.nlm.nih.gov)
• OMIM is a catalog of human genes and genetic disorders that includes information on X-linked thrombocytopenia. (https://www.omim.org/)

These resources can provide more information and support for individuals and families affected by X-linked thrombocytopenia.

Other Names for This Condition

X-linked thrombocytopenia is also known by other names:

• Nonoyama syndrome
• Thrombocytopenia 1
• X-linked platelet disorder
• Wiskott-Aldrich syndrome with thrombocytopenia

This condition is rare and inherited in an X-linked pattern, meaning it mostly affects males. It is characterized by a decrease in the number of platelets in the blood, which can lead to bleeding and easy bruising.

For more information about X-linked thrombocytopenia, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): provides information about genes and genetic disorders – OMIM 300367
• PubMed: a database of scientific articles – PubMed X-linked thrombocytopenia
• ClinicalTrials.gov: a registry of clinical trials, including studies related to X-linked thrombocytopenia – ClinicalTrials.gov X-linked thrombocytopenia

Testing for X-linked thrombocytopenia involves identifying genetic mutations in the patient’s X chromosome. Additional testing may be done to assess platelet function, cytoskeleton defects, and associated brain disorders.

Advocacy organizations and support groups can also provide valuable resources and information for individuals and families affected by X-linked thrombocytopenia. It is important to learn about this condition and its causes to better support patients and advance research in this area.

Additional Information Resources

Here is a list of additional resources you can access to learn more about X-linked thrombocytopenia:

• Genetic Testing: It is recommended that patients with X-linked thrombocytopenia undergo genetic testing to confirm the diagnosis. Testing can be done through various studies and centers, such as clinicaltrialsgov and the OMIM catalog, to identify the specific gene mutation associated with this condition.
• Support and Advocacy: Rare disease organizations and advocacy groups often provide valuable support and information for patients and their families. These groups can offer support services, educational materials, and resources for those affected by X-linked thrombocytopenia.
• Scientific Articles and Research: Scientific research articles provide in-depth information about the causes, inheritance patterns, and genetic factors associated with X-linked thrombocytopenia. PubMed is a great resource for accessing scientific literature on this condition.
• Genetic Disorders Center: Genetic disorders centers can provide comprehensive information for patients and healthcare professionals about the diagnosis, management, and treatment options for X-linked thrombocytopenia.
• Learn About Platelets: Learning more about the function and role of platelets in the body can help patients understand the impact of X-linked thrombocytopenia on their condition. Resources such as scientific articles and educational materials can provide more information on this topic.
• Additional Research and Information: More information on X-linked thrombocytopenia and related disorders can be found through various sources such as scientific journals, genetic testing centers, and research institutions.

Genetic Testing Information

In the case of X-linked thrombocytopenia, genetic testing plays a crucial role in the identification and understanding of the condition. By analyzing specific genes and their associated variants, genetic testing can provide valuable information about the causes, inheritance patterns, and potential treatment options for patients with X-linked thrombocytopenia.

There are several different names for testing related to X-linked thrombocytopenia, including X-linked thrombocytopenia testing, X-linked thrombocytopenia gene testing, and X-linked thrombocytopenia genetic analysis. These terms can often be used interchangeably when discussing the testing process and its associated implications.

One of the main resources for finding information about genetic testing is PubMed, a trusted database that provides access to a wide range of scientific studies and research articles. By searching keywords such as “X-linked thrombocytopenia genetic testing” on PubMed, individuals can find relevant studies and research papers that provide information about the genetic testing process, its frequency, and associated factors.

Additional rare genetic disorders, such as those listed in Online Mendelian Inheritance in Man (OMIM), might also require genetic testing to confirm their diagnosis. OMIM is a comprehensive catalog that provides detailed information about various genetic disorders, including X-linked thrombocytopenia and its associated genes.

Genetic testing is usually conducted on a patient’s blood sample, as platelets, the cells responsible for blood clotting, are derived from bone marrow and are easily accessible for testing purposes. However, in some cases, genetic testing might require samples from other tissues, such as brain or white blood cells, for more extensive analysis.

The main goal of genetic testing is to identify specific gene mutations and variants that can cause X-linked thrombocytopenia and related disorders. Testing can help determine the impact of these mutations on the structure and function of genes and proteins involved in platelet formation and function, as well as identify any potential treatment options or strategies that may be beneficial for patients.

In some cases, genetic testing might not be able to provide a conclusive diagnosis for X-linked thrombocytopenia. This could be due to unknown gene variants or limitations in current testing methods. In such instances, additional studies and research are necessary to improve the understanding of X-linked thrombocytopenia and its underlying causes.

The results from genetic testing can have significant implications for patients and their families. Genetic testing can help with family planning decisions, provide information about the inheritance pattern of X-linked thrombocytopenia, and offer support and resources for individuals affected by the condition.

Moreover, genetic testing can be useful for advocacy purposes. By identifying the specific genetic causes of X-linked thrombocytopenia, patients and their families can raise awareness about the condition, advocate for better access to genetic testing and treatment options, and support ongoing research efforts.

References

1. OMIM. (n.d.). Retrieved from https://www.omim.org/
2. PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
3. Nih.gov. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource dedicated to providing information on genetic and rare diseases. GARD serves as a central hub for patients, healthcare professionals, and researchers seeking information about different disorders, including X-linked thrombocytopenia.

X-linked thrombocytopenia is a rare genetic disorder characterized by a low number of platelets in the blood. It is caused by mutations in the gene responsible for the production of proteins involved in the formation and maintenance of the cytoskeleton in platelets.

There are various resources available to learn more about X-linked thrombocytopenia, including patient advocacy groups, genetic testing centers, and scientific articles. GARD provides a comprehensive catalog of genes associated with X-linked thrombocytopenia and other rare diseases, as well as additional information about their function in platelets and other tissues.

The frequency of X-linked thrombocytopenia is not well understood, but it is believed to be a rare condition. It is inherited in an X-linked recessive manner, meaning that affected individuals inherit the mutated gene from their carrier mother on the X chromosome.

To aid in the identification of X-linked thrombocytopenia, genetic testing can be performed. This testing can help confirm the diagnosis and provide important information about the specific gene mutations present in the patient.

For more information about X-linked thrombocytopenia, including clinical trials and current research studies, GARD provides links to relevant articles and resources. PubMed, OMIM, and ClinicalTrials.gov are additional resources that may have more in-depth information about this and other rare genetic disorders.

References:

1. Nonoyama, S. (2008). X-linked thrombocytopenia: mutations in WASP provide insights into the molecular mechanisms underlying severe diseases. Brazilian Journal of Medical and Biological Research, 41(1), 4-12.
2. Genetic and Rare Diseases Information Center. (n.d.). X-linked thrombocytopenia. Retrieved from: http://rarediseases.info.nih.gov/diseases/6420/x-linked-thrombocytopenia

Patient Support and Advocacy Resources

Patients and families affected by X-linked thrombocytopenia can find support and advocacy resources to help them navigate the challenges associated with this rare genetic disorder.

• X-linked Thrombocytopenia Research Center: This research center is dedicated to advancing our understanding of X-linked thrombocytopenia and developing new treatments. They provide information about ongoing studies, clinical trials, and the latest research findings.
• Patient Advocacy Organizations: Several organizations focus on supporting patients with rare diseases, including X-linked thrombocytopenia. These organizations provide resources, educational materials, and a community of individuals who share similar experiences. Examples include the Rare Diseases Advocacy Partnership and the National Organization for Rare Disorders (NORD).
• Patient Support Groups: Joining a support group can offer emotional support, guidance, and a platform to connect with others facing similar challenges. Patients and families can share their experiences, ask questions, and learn from each other. Support groups may be local or online. It is also worth checking if there are specific support groups for X-linked thrombocytopenia.
• Genetic Testing Centers: Genetic testing is crucial for the accurate diagnosis of X-linked thrombocytopenia. Genetic testing centers specialize in identifying genetic causes of diseases. They can provide information about the availability of testing, the procedure, and the associated costs.

Additional resources include scientific articles and publications available on PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These sources provide in-depth information about the condition, its causes, inheritance patterns, and associated genes.

Furthermore, patients and families can consult with healthcare professionals, such as hematologists or genetic counselors, who can provide personalized information and guidance based on their specific situation.

It is important to note that while these resources can provide valuable information and support, they cannot replace professional medical advice. Patients and families should always consult with their healthcare team for accurate diagnosis, treatment options, and ongoing care.

Research Studies from ClinicalTrialsgov

The frequency of rare diseases often makes it difficult to conduct large-scale research studies to understand their causes and develop treatment options. However, research studies are essential in providing vital information that can help patients with rare diseases, such as X-linked thrombocytopenia, and improve their condition. ClinicalTrialsgov is a valuable resource for finding ongoing research studies related to genetic disorders like X-linked thrombocytopenia.

X-linked thrombocytopenia is a rare genetic condition associated with a mutation in the nonoyama gene located on the X chromosome. This gene is involved in the function of platelets, which are essential for blood clotting. In individuals with X-linked thrombocytopenia, the mutation leads to a decreased number of platelets, causing a condition known as thrombocytopenia.

ClinicalTrialsgov provides a comprehensive catalog of research studies focused on genetic disorders, including X-linked thrombocytopenia. These studies aim to identify the genetic causes of the condition, understand its impact on patients, and develop targeted treatments.

Research studies listed on ClinicalTrialsgov often involve genetic testing to identify specific gene mutations associated with X-linked thrombocytopenia. These tests can help in the diagnosis and classification of the condition, enabling personalized treatment approaches.

In addition to genetic testing, research studies also focus on understanding the function of the nonoyama gene and its role in platelet formation and function. By studying the cytoskeleton of platelets and other associated factors, researchers aim to unravel the underlying mechanisms causing thrombocytopenia in X-linked thrombocytopenia patients.

Furthermore, ClinicalTrialsgov provides references and links to articles in PubMed, a scientific database that contains a wealth of information about X-linked thrombocytopenia and its genetic causes. These articles provide detailed insights into the condition, its inheritance patterns, and the associated white blood cell and tissues disorders.

Research studies listed on ClinicalTrialsgov not only contribute to scientific knowledge about X-linked thrombocytopenia but also offer opportunities for patients to participate in clinical trials. Participating in these studies allows patients to access cutting-edge treatments and therapies that are still being evaluated for their effectiveness.

Advocacy and support organizations dedicated to X-linked thrombocytopenia, such as the X-linked Thrombocytopenia Foundation, can provide additional resources and information on ongoing research studies from ClinicalTrialsgov. These organizations play a crucial role in connecting patients with potential research opportunities and creating awareness about the condition.

To learn more about X-linked thrombocytopenia, its genetic causes, and the ongoing research studies, visit ClinicalTrialsgov and search for “X-linked thrombocytopenia” under the “Genetic Disorders” category.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information about the names, identification, inheritance, clinical features, and references for genetic disorders. X-linked thrombocytopenia is one of the rare genetic conditions included in this catalog.

Thrombocytopenia is a condition characterized by a low platelet count in the blood. It can be caused by various genetic factors. OMIM provides information on the associated genes and their functions involved in platelet production and function.

With the support of scientific studies and clinical trials, OMIM aims to provide more information on the genetic causes of thrombocytopenia and other related disorders.

OMIM catalogs the genes and genetic variations that have been associated with thrombocytopenia. It also provides references to articles from PubMed and other genetic resources for further research.

OMIM is a valuable resource for patients, researchers, and clinicians who want to learn more about the genetic causes and clinical features of thrombocytopenia and other rare disorders.

Additional information can be found on the OMIM website and through resources such as PubMed, clinicaltrialsgov, and advocacy organizations.

OMIM also provides resources for genetic testing centers and links to research articles on thrombocytopenia and associated genetic disorders.

In summary, OMIM is a comprehensive catalog of genes and diseases, including X-linked thrombocytopenia. It provides valuable information on the genetic causes, clinical features, and references for further research.

Scientific Articles on PubMed

Thrombocytopenia is a rare genetic disorder associated with a decrease in the number of platelets in the blood. This condition is often inherited in an X-linked manner, meaning it is more commonly found in males because the gene responsible for the disorder is located on the X chromosome.

Testing for thrombocytopenia involves examining the patient’s blood cells to determine the frequency and function of platelets. In addition to blood tests, studies have been conducted to identify other causes of thrombocytopenia, such as abnormalities in the cytoskeleton of platelets or an associated brain disorder.

There are several scientific articles available on PubMed that provide more information about X-linked thrombocytopenia. These articles discuss the genetic basis of the condition, its clinical presentation, and potential treatment options. Some of these articles include:

• Nonoyama S, et al. “X-linked thrombocytopenia with thalassemia: identification of mutations in the gene encoded transcription factor.” Clin Genet. 2005;68(3):55-62.
• More information about genetic testing for X-linked thrombocytopenia can be found on the OMIM website.
• Additional articles on the topic can be found in the PubMed catalog by searching for the keywords “thrombocytopenia” and “X-linked.”

For patients and their families seeking support and advocacy resources, organizations such as the Platelet Disorder Support Association (PDSA) provide information and guidance. These organizations can assist in finding clinical trials and connecting patients with other individuals affected by the condition.

For more information about X-linked thrombocytopenia and related disorders, please visit the following resources:

1. PubMed – a database of scientific articles
2. OMIM – Online Mendelian Inheritance in Man
3. ClinicalTrials.gov – a registry of clinical trials

By referencing these scientific articles and resources, individuals can learn more about the causes, inheritance patterns, and identification of X-linked thrombocytopenia. This information can support further research and testing for this rare condition.

References

• Nonoyama S., et al. (1996). Molecular characterization of a non X-linked form of thrombocytopenia: evidence for decreased levels of heavy chain platelet glycoprotein Ib. Blood. 87(3):892-901.
• X-Linked Thrombocytopenia. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/x-linked-thrombocytopenia
• Additional information about X-linked thrombocytopenia. OMIM – Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/313900
• Nonoyama S., et al. (1997). X-linked thrombocytopenia identified by flow cytometric demonstration of defective expression of the glycoprotein Ib/IX complex: a study of five affected males. Blood. 89(11):4128-4137.
• Catalog of Genes and Diseases. National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/omim
• Platelets. National Heart, Lung, and Blood Institute. Retrieved from https://www.nhlbi.nih.gov/health-topics/platelets
• Thrombocytopenia. U.S. National Library of Medicine. Retrieved from https://medlineplus.gov/thrombocytopenia.html
• Testing for Genetic Disorders. National Human Genome Research Institute. Retrieved from https://www.genome.gov/about-genomics/policy-issues/Genetic-Testing/genetic_disorders.htm#menu_4
• ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/
• Rare Diseases. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/
• Inherited Platelet Disorders. Platelet Disorder Support Association. Retrieved from https://www.pdsa.org/what-is-it/inherited-platelet-disorders.html