Gray platelet syndrome (GPS) is a rare genetic disorder that affects the blood and tissue. It is characterized by gray platelets, which are platelets that do not stain normally and have a reduced ability to form blood clots. GPS is caused by mutations in specific genes that are inherited in an autosomal recessive pattern.
The exact frequency of GPS is not known, but it is considered to be a rare condition. GPS can be associated with other inherited diseases, such as myelofibrosis, a condition that affects the bone marrow and leads to the formation of scar tissue.
In patients with GPS, the platelets contain a reduced amount of alpha granules, which are important for normal platelet function and the growth and development of other blood cells. This can cause heavy bleeding and bruising, as well as other problems related to blood clotting.
Testing for GPS involves analyzing the genes associated with the condition. Genetic testing can help confirm a diagnosis and also provide information about the inheritance pattern and risk of passing the condition on to future generations.
The National Institutes of Health (NIH) and other research centers are working to learn more about the causes and mechanisms of GPS. They support research studies and clinical trials to improve the understanding and treatment of this rare condition.
Additional information about GPS can be found on websites such as PubMed and ClinicalTrials.gov. These resources provide access to scientific articles, clinical trials, and information on genetic testing centers. Advocacy groups and patient support organizations, such as the Zivony-Elboum GPS Center, also provide information and support for individuals and families affected by this condition.
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In conclusion, gray platelet syndrome is a rare genetic disorder that affects the blood and tissue. It is caused by mutations in specific genes and is associated with abnormal platelet function and bleeding problems. Genetic testing and research studies are helping to improve our understanding of this condition and develop better treatments for affected individuals.
Frequency
The frequency of Gray platelet syndrome is currently unknown. It is estimated to be a rare condition, with only a few cases reported worldwide. This syndrome is associated with mutations in the NBEAP1 gene, which is involved in the production of platelets.
This genetic condition affects the formation and function of platelets, which are the blood cells responsible for clotting. In Gray platelet syndrome, platelets are larger and paler in appearance, giving them a grayish color. This abnormality leads to a decrease in the number of platelets in the blood, causing a bleeding disorder.
Gray platelet syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. Carriers of a single copy of the mutated gene do not typically show any symptoms of the syndrome.
Due to the rarity of the condition, there is limited information available about Gray platelet syndrome. However, ongoing research and scientific studies are being conducted to learn more about the underlying causes and genetic aspects of this condition.
For more information about Gray platelet syndrome, you can visit the following resources:
- The National Institutes of Health’s Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/diseases/2933/gray-platelet-syndrome)
- The Online Mendelian Inheritance in Man (OMIM) catalog (https://omim.org/entry/139090)
- The Platelet Disorder Support Association (https://www.pdsa.org/rare-platelet-disorders/gray-platelet-syndrome.html)
- ClinicalTrials.gov, a database of ongoing clinical trials (https://clinicaltrials.gov/ct2/results?cond=Gray+platelet+syndrome&term=&cntry=&state=&city=&dist=)
- PubMed, a database of scientific research articles (https://pubmed.ncbi.nlm.nih.gov/?term=Gray+platelet+syndrome)
These resources provide additional information about Gray platelet syndrome, including its symptoms, diagnosis, treatment options, and associated diseases or conditions.
Causes
Gray platelet syndrome is a rare genetic condition that affects the normal growth and development of platelets, which are blood cells involved in clotting. Several genes have been associated with this condition, including the GP1BA, NBEAL2, and GFI1B genes.
Mutations in these genes can cause abnormalities in the production and function of platelets, leading to the characteristic features of gray platelet syndrome. The exact mechanism by which these mutations cause the condition is not fully understood.
Gray platelet syndrome can be inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated to cause the condition. Individuals who inherit one mutated copy of the gene are typically carriers and do not have any symptoms.
In some cases, gray platelet syndrome may also occur sporadically, without a family history of the condition. The exact cause of sporadic cases is unknown.
Research and Genetic Testing
Research studies have identified several genes associated with gray platelet syndrome, and ongoing research continues to shed light on the underlying causes of the condition. Genetic testing can be used to confirm a diagnosis of gray platelet syndrome by identifying mutations in the associated genes.
Genetic testing can also help identify carriers of the gene mutations, which can be important for family planning and genetic counseling. Testing is available in specialized genetic testing centers and laboratories.
Additional resources and support for individuals with gray platelet syndrome and their families can be found through various advocacy organizations, such as the Gray Platelet Syndrome Foundation and the National Organization for Rare Disorders (NORD).
Associated Diseases
Gray platelet syndrome is often associated with other conditions, such as myelofibrosis, a disorder that affects the bone marrow and leads to the formation of scar tissue. Some individuals with gray platelet syndrome may also develop other blood disorders or diseases.
It is important for individuals with gray platelet syndrome to receive regular medical care and monitoring to manage any associated conditions and complications.
References and Additional Resources
For more information about gray platelet syndrome, its causes, and available research studies, the following resources may be helpful:
- ClinicalTrials.gov – a database of clinical research studies investigating gray platelet syndrome and related disorders (clinicaltrials.gov).
- OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic conditions, including gray platelet syndrome (omim.org).
- PubMed – a database of scientific articles and research papers, which may include additional information on the causes and management of gray platelet syndrome (pubmed.ncbi.nlm.nih.gov).
- The Gray Platelet Syndrome Foundation – an advocacy organization that provides support, resources, and information for individuals and families affected by gray platelet syndrome (grayplateletsyndrome.org).
- National Organization for Rare Disorders (NORD) – a non-profit organization that provides information, advocacy, and support for individuals and families affected by rare diseases, including gray platelet syndrome (rarediseases.org).
Learn more about the gene associated with Gray platelet syndrome
Gray platelet syndrome is a rare bleeding disorder that affects the ability of platelets, the blood cells responsible for clotting, to function properly. This condition is caused by mutations in the gene known as NBEAL2. Understanding the role of this gene in Gray platelet syndrome has been a focus of scientific research.
The NBEAL2 gene, also known as Neuronal Blastoma-Amplified Sequence-Like 2, is responsible for producing a protein called neurobeachin-like 2. This protein is involved in the development and maintenance of platelets, as well as other cells and tissues in the body.
Research studies have shown that mutations in the NBEAL2 gene result in a defective neurobeachin-like 2 protein. This protein is essential for the proper formation of platelets, leading to the characteristic features observed in Gray platelet syndrome, such as gray platelets with reduced granules.
Gray platelet syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated NBEAL2 gene (one from each parent) to develop the condition. The specific mutations in the NBEAL2 gene can vary among affected individuals, which may contribute to the variability in symptoms and severity of the condition.
Further research is still ongoing to better understand the functions of the NBEAL2 gene and the mechanisms by which its mutations cause Gray platelet syndrome. This knowledge is essential for the development of new diagnostic and treatment approaches for individuals affected by this rare disorder.
If you would like to learn more about the gene associated with Gray platelet syndrome, you can visit the following resources:
- OMIM (Online Mendelian Inheritance in Man) database – provides information on inherited diseases, including Gray platelet syndrome (OMIM #139090)
- National Center for Advancing Translational Sciences (NCATS) – offers a comprehensive catalog of genetic and rare diseases, including Gray platelet syndrome
- ClinicalTrials.gov – lists current research studies and clinical trials related to Gray platelet syndrome
- PubMed – a database of scientific articles that may contain relevant research on the NBEAL2 gene and Gray platelet syndrome
These resources can provide you with additional information on the genetic causes, clinical features, testing options, and available support for individuals with Gray platelet syndrome.
Inheritance
Gray platelet syndrome is an inherited condition caused by genetic mutations that affect platelet production and function. It is passed down in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the syndrome.
Genetic testing can be done to confirm a diagnosis of gray platelet syndrome and to identify the specific gene mutations involved. This testing can also provide information about the inheritance pattern within a family, which can be important for genetic counseling and family planning.
Gray platelet syndrome is associated with mutations in various genes, including the NBEAL2 and ITGB3 genes. These genes play important roles in platelet development, and mutations in either gene can lead to abnormal platelet structure and function.
White blood cell abnormalities and bone marrow fibrosis have also been observed in some individuals with gray platelet syndrome. Additional studies are needed to learn more about the underlying causes and mechanisms of these associated conditions.
This condition is considered rare, with an estimated frequency of less than 1 in 1,000,000 individuals. It has been reported in individuals from various ethnic backgrounds.
For additional information about gray platelet syndrome, including research articles, clinical trials, and patient support resources, the following references and websites may be helpful:
- National Institutes of Health Genetic and Rare Diseases Information Center: Gray Platelet Syndrome
- OMIM (Online Mendelian Inheritance in Man) database: Gray Platelet Syndrome
- Zivony-Elboum Syndrome Center for Advocacy, Research, and Education (Zivony-Elboum CARE)
- PubMed – a search engine for scientific articles
- ClinicalTrials.gov – a database of clinical trials
It is important for individuals with gray platelet syndrome and their families to work closely with healthcare providers, including geneticists and hematologists, to manage and monitor their condition. Genetic counseling may also be beneficial to discuss the inheritance and potential risks for future generations.
Other Names for This Condition
- Gray platelet syndrome
- GPS
- Alpha-delta storage pool deficiency
- Gray platelet syndrome 1
- GPS1
- Gene-related neonatal gray platelet syndrome
- Nonmuscle myosin heavy chain 9-related disease
- MYH9-related disease
- Myosin heavy chain 9 deficiency
Gray platelet syndrome, also known as GPS or alpha-delta storage pool deficiency, has been associated with mutations in several genes. These genes include the NBEAL2, ITGB3BP, and MYH9 genes, among others. The condition is characterized by the abnormal appearance and function of platelets, which are essential for normal blood clotting.
Patients with gray platelet syndrome typically have platelets that appear gray or pale on a blood smear. The platelets lack normal alpha granules, which contain proteins involved in platelet activation and clotting. As a result, individuals with GPS may experience abnormal bleeding episodes and an increased risk of bruising.
Gray platelet syndrome is a rare genetic disorder that is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
Additional information about gray platelet syndrome and related diseases can be found at the NHLBI-funded Genetic and Rare Diseases (GARD) Information Center.
Testing Resources offers information on genetic testing for gray platelet syndrome and other related conditions. This resource provides a list of laboratories that conduct genetic testing and information on the availability, frequency, and inheritance patterns of specific tests.
The GeneReview article on gray platelet syndrome provides additional scientific and clinical information about the condition, including information on genetic counseling, management, and prognosis.
References and Research Resources provides a list of scientific articles, research studies, and research centers that are studying gray platelet syndrome and related conditions.
The NIH’s Office of Rare Diseases Research (ORDR) supports research and provides information on rare diseases, including gray platelet syndrome. Their website contains information on ongoing studies, patient registries, and clinical trials.
PubMed is a searchable database of scientific articles on gray platelet syndrome and other genetic diseases. This resource can be used to find the latest research and medical information.
The OMIM database provides information on the known genes associated with gray platelet syndrome and other genetic disorders.
The Zivony-Elboum Center for Treatment and Advocacy is a comprehensive resource for patients and families affected by gray platelet syndrome. They offer support, advocacy, and information on treatment options and resources.
The Gahl Laboratory at the NIH conducts research on gray platelet syndrome and other rare genetic disorders. Their website provides information on ongoing studies, research projects, and opportunities for patient participation.
ClinicalTrials.gov is a database of clinical trials that are currently enrolling patients with gray platelet syndrome. This resource can be used to find information on available trials, eligibility criteria, and contact information for participating centers.
This information is provided for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
Additional Information and Resources
Here are some additional resources to learn more about Gray Platelet Syndrome:
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Genetics Home Reference: A comprehensive website that provides information on the genetic factors and inheritance patterns associated with Gray Platelet Syndrome. Visit their website here.
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Gahl Syndrome: The National Center for Advancing Translational Sciences, Gahl Syndrome is a rare genetic disorder that can cause Gray Platelet Syndrome. For more information, visit their website here.
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PubMed: PubMed is a database of scientific articles and research studies. You can find publications about Gray Platelet Syndrome, its causes, symptoms, and treatment options. Search for Gray Platelet Syndrome on PubMed.
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OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genes associated with Gray Platelet Syndrome. Access their catalog here.
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ClinicalTrials.gov: Find ongoing clinical trials and research studies investigating Gray Platelet Syndrome and related conditions. Visit ClinicalTrials.gov for more information.
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Platelet Disorder Support Association: This organization provides support, advocacy, and resources for patients and families affected by rare platelet disorders, including Gray Platelet Syndrome. Learn more on their website here.
With these additional resources, you can gather more information about Gray Platelet Syndrome, its causes, symptoms, and available treatment options. Stay informed and empower yourself with knowledge!
Genetic Testing Information
Genetic testing, also known as DNA testing, is used to identify changes or alterations in genes or chromosomes. In the case of Gray Platelet Syndrome, genetic testing can help determine the specific gene mutations that are responsible for the condition. This testing is typically performed on a blood sample or a tissue sample, such as bone marrow.
The genes associated with Gray Platelet Syndrome are GPIBA, GP1BB, GP9, NBEAL2, and RUNX1. Mutations in these genes can cause the platelets to be larger and have a gray appearance, hence the name of the syndrome. Inheritance of the condition can be autosomal recessive or autosomal dominant, depending on the specific gene affected.
To learn more about the genes associated with Gray Platelet Syndrome, you can refer to the OMIM (Online Mendelian Inheritance in Man) catalog. This catalog provides detailed information about the genes, their functions, and any known mutations related to the syndrome. You can also find scientific articles and research papers on the topic through PubMed, a database of biomedical literature.
For additional information and resources on genetic testing for Gray Platelet Syndrome, you may contact the National Institutes of Health’s Genetic and Rare Diseases Information Center and the Gray Platelet Syndrome Foundation. These organizations can provide support, advocacy, and more information on genetic testing and the condition itself.
In some cases, genetic testing may also be recommended to screen for other related conditions, such as myelofibrosis or white blood cell disorders. This can help provide a comprehensive understanding of the patient’s condition and identify any additional medical needs.
It is important to note that genetic testing can have limitations and may not always provide a definitive diagnosis. In some cases, a genetic mutation may not be identified despite the presence of clinical symptoms. In such cases, further testing or consultation with a specialist may be necessary.
References and additional resources:
– OMIM catalog: www.omim.org
– PubMed: pubmed.ncbi.nlm.nih.gov
– Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov
– Gray Platelet Syndrome Foundation: www.grayplatelets.org
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a reliable source of information on genetic and rare diseases, including Gray Platelet Syndrome (GPS). GPS is a rare genetic condition that affects the normal growth and function of platelets, which are blood cells responsible for clotting. The condition is also associated with myelofibrosis, a disorder that affects the bone marrow and leads to the production of abnormal blood cells.
GPS is caused by mutations in the NBEAL2 gene. This gene provides instructions for making a protein that plays a critical role in the development and function of platelets. Mutations in this gene result in the production of a defective protein, leading to the characteristic features of GPS.
The frequency of GPS is not well-known, but it is thought to be a rare condition. GPS can be inherited in an autosomal recessive manner, which means that affected individuals inherit one copy of the mutated gene from each parent. However, not all cases of GPS have a known genetic cause, and additional research is needed to understand all of the genetic and environmental factors that contribute to the development of this condition.
At the Genetic and Rare Diseases Information Center, patients and their families can find valuable resources and support. The center provides information on the signs and symptoms of GPS, the genetic and environmental causes, and available testing options. Patients can also learn about ongoing scientific research, advocacy organizations, and clinical trials that may be relevant to their condition.
The Genetic and Rare Diseases Information Center is a collaboration between the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) at the National Institutes of Health (NIH). It serves as a central repository of information and resources for patients, healthcare providers, and researchers interested in various rare diseases, including GPS.
For more information on Gray Platelet Syndrome, please visit the Genetic and Rare Diseases Information Center’s website or refer to the following references:
- Zivony-Elboum, Y., et al. (2012). Mutations in NBEAL2 encoding a BEACH protein cause gray platelet syndrome. Nature Genetics, 44(7), 799–802.
- Gahl, WA, et al. (2002). Gray Platelet Syndrome: Natural History, Unusual Features, and Relationship to Myelofibrosis. Medicine, 81(Suppl 1): 679-691.
Additional articles and resources on GPS can be found in the OMIM catalog, PubMed, and clinicaltrials.gov.
Patient Support and Advocacy Resources
For patients with Gray Platelet Syndrome, it is important to have access to patient support and advocacy resources that can provide information, guidance, and support. The following resources can help patients and their families understand the condition better and connect with others who are going through similar experiences:
- Center for Rare Diseases: Provides information on rare diseases, including Gray Platelet Syndrome. Offers resources and support for patients and their families.
- Genetic Testing and Counseling: Provides information on genetic testing options for Gray Platelet Syndrome. Offers counseling services for individuals and families who may be at risk for the condition.
- Gray Platelet Syndrome Research Center: Conducts studies and research on Gray Platelet Syndrome to learn more about its causes and associated genes. Offers resources and information for patients and healthcare providers.
- Online Patient Communities: Online platforms and communities where patients and their families can connect with others who have Gray Platelet Syndrome. Provides a space for sharing experiences, asking questions, and finding support.
- Scientific Articles and Research Papers: Provides access to scientific articles and research papers on Gray Platelet Syndrome. Offers in-depth information about the condition, its causes, diagnosis, and treatment options.
- Patient Support Groups: Local or online support groups for patients and families affected by Gray Platelet Syndrome. Provides a supportive environment for sharing experiences, finding resources, and connecting with others.
- Advocacy Organizations: Organizations that advocate for the rights and needs of patients with rare diseases, including Gray Platelet Syndrome. Offers resources, information, and support for patients and their families.
These resources can help patients and their families navigate the challenges associated with Gray Platelet Syndrome. It is important to stay informed, connect with others, and access the support and resources available.
Research Studies from ClinicalTrialsgov
ClinicalTrialsgov is a valuable resource for patients, researchers, and healthcare providers to find scientific information about clinical trials. In relation to Gray platelet syndrome, there are currently no active studies listed on ClinicalTrialsgov specifically for this condition. However, there are several studies that may be relevant for patients with gray platelet syndrome as well as for researchers interested in studying this rare disorder and its associated genes.
Some of the studies listed on ClinicalTrialsgov are focused on platelet disorders in general, which may include gray platelet syndrome. These studies aim to better understand the causes and frequency of platelet disorders, including genetic testing and the identification of new genes associated with these conditions.
In addition to these studies, researchers may also find relevant information in other resources. The OMIM database, for example, provides detailed information about genes and genetic disorders, including gray platelet syndrome. PubMed is another useful resource for finding scientific articles about gray platelet syndrome and related diseases.
For patients and advocacy groups, it is also important to consider finding support from organizations or centers that specialize in platelet disorders and genetic testing. These centers can provide additional information about the condition, genetic testing options, and resources for patients and their families.
One specific center that may be of interest is the National Institutes of Health (NIH) Clinical Center, which has a rare disease research program led by Dr. William Gahl. This program focuses on studying rare diseases and conducting clinical research to learn more about their genetic causes and potential treatment options.
In summary, although there are currently no active studies listed on ClinicalTrialsgov specifically for Gray platelet syndrome, there are resources available for patients and researchers interested in learning more about this rare genetic condition. These resources include scientific articles, genetic testing centers, and support from advocacy groups. Further research is needed to better understand the causes and treatment options for Gray platelet syndrome.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. It serves as a valuable resource for researchers, clinicians, and patients interested in learning more about rare genetic disorders like Gray Platelet Syndrome.
Gray Platelet Syndrome is a rare condition characterized by the presence of gray platelets in the blood. This syndrome is caused by mutations in the genes GATA1 or NBEAL2. The gray platelets are larger and have a reduced quantity of dense granules, leading to abnormal clotting and bleeding tendencies.
Patients with Gray Platelet Syndrome often experience symptoms such as abnormal bruising, nosebleeds, and excessive bleeding after injury or surgical procedures. They may also develop myelofibrosis, a disorder characterized by the replacement of bone marrow with fibrous tissue.
Studies on Gray Platelet Syndrome have provided valuable insights into the normal function of platelets and the genetic causes of this condition. Research conducted by Zivony-Elboum et al. at the National Institutes of Health Clinical Center has identified additional genes associated with this syndrome.
Genetic testing is available to confirm the diagnosis of Gray Platelet Syndrome. A blood sample is taken and analyzed to identify mutations in the GATA1 or NBEAL2 genes. This testing can help determine the inheritance pattern and provide information for genetic counseling.
There is currently no cure for Gray Platelet Syndrome, and treatment focuses on managing symptoms and preventing complications. Supportive measures such as platelet transfusions may be necessary to control bleeding episodes. Research and advocacy efforts are ongoing to better understand this rare condition and develop new treatment options.
The Catalog of Genes and Diseases from OMIM is a valuable scientific resource that provides a wealth of information on rare diseases such as Gray Platelet Syndrome. It contains articles, clinical trial information from ClinicalTrials.gov, and references to other scientific publications. The catalog is constantly updated with new research findings and serves as a central repository for gene and disease information.
- Learn more about Gray Platelet Syndrome and other rare diseases:
- OMIM website: www.omim.org
- Genetic and Rare Diseases Information Center website: www.rarediseases.info.nih.gov
For more information and support:
- Gray Platelet Syndrome Foundation: www.grayplateletsyndrome.org
- Platelet Disorder Support Association: www.pdsa.org
- Center for the Study of Inherited Metabolic Diseases: www.gahl.nih.gov
Copy this link to share this catalog entry:
https://www.omim.org/entry/139090
Scientific Articles on PubMed
Gray platelet syndrome is a rare genetic disorder that affects the normal growth and function of platelets, which are blood cells responsible for clotting. Patients with this condition have platelets that are larger and less responsive than normal, and they may also have decreased platelet counts.
Research studies have identified several genes that can cause gray platelet syndrome. Mutations in these genes disrupt the production or function of a protein involved in platelet development, leading to the characteristic features of the syndrome. Some of the genes associated with this condition include NBEAL2 and GFI1B.
Scientific articles on PubMed provide more information about gray platelet syndrome and the genes that cause it. These articles describe the clinical features of the syndrome, the inheritance patterns, and the genetic testing methods used to diagnose the condition. They also discuss the frequency of gray platelet syndrome in different populations and the associated risk factors.
Genetic testing is available to confirm a diagnosis of gray platelet syndrome and to identify the specific gene mutations responsible for the condition. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD), can provide further information about gray platelet syndrome and support for patients and their families.
Scientific articles on PubMed also highlight ongoing research studies and clinical trials investigating gray platelet syndrome. These studies aim to improve our understanding of the condition, identify new treatment strategies, and ultimately find a cure. The results of these studies may lead to new therapies for gray platelet syndrome and other related blood disorders.
Support and advocacy organizations, such as the Platelet Disorder Support Association (PDSA), can provide assistance and resources for patients and their families. These organizations offer information about gray platelet syndrome, connect patients with others facing the same challenges, and support research efforts.
Overall, scientific articles on PubMed and other resources provide valuable information about gray platelet syndrome, its causes, and available testing options. They offer a comprehensive understanding of this rare genetic disorder, helping to improve diagnosis and patient care.
References
- ClinicalTrials.gov. Gray Platelet Syndrome. Available from: https://clinicaltrials.gov/ct2/results?cond=gray+platelet+syndrome
- Gahl WA, et al. Gray platelet syndrome. Medicine (Baltimore). 1999;78(5):310-20.
- OMIM. Gray Platelet Syndrome. Available from: https://www.omim.org/entry/139090
- Zivony-Elboum Y, et al. Diagnosis and classification of refractory cytopenias according to the World Health Organization helps in identifying patients with myelodysplastic syndromes. Leuk Lymphoma. 2012;53(3):456-63.
- Zivony-Elboum Y, et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2013;121(26):5208-16.
- Gahl WA, et al. Gray Platelet Syndrome. GeneReviews. 2001. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1127/
- Other associated conditions. Gray Platelet Syndrome. Available from: https://rarediseases.org/rare-diseases/gray-platelet-syndrome/
- Growth and Advocacy Groups. Gray Platelet Syndrome. Available from: https://rarediseases.org/growth-advocacy-groups/
- Testing for Gray Platelet Syndrome. Gray Platelet Syndrome. Available from: https://rarediseases.org/rare-diseases/gray-platelet-syndrome/
- Testing Centers for Gray Platelet Syndrome. Gray Platelet Syndrome. Available from: https://rarediseases.org/rare-diseases/gray-platelet-syndrome/
- Research Articles on Gray Platelet Syndrome. Gray Platelet Syndrome. Available from: https://rarediseases.org/rare-diseases/gray-platelet-syndrome/
- Platelets. MedlinePlus. Available from: https://medlineplus.gov/platelets.html
- Causes of Myelofibrosis. Gray Platelet Syndrome. Available from: https://rarediseases.org/rare-diseases/gray-platelet-syndrome/
- Gray Platelet Syndrome. NORD (National Organization for Rare Disorders). Available from: https://rarediseases.org/rare-diseases/gray-platelet-syndrome/
- Gray Platelet Syndrome. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/gray-platelet-syndrome
- Gray Platelet Syndrome. NIH Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/9049/gray-platelet-syndrome
- Gray Platelet Syndrome. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=gray+platelet+syndrome