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Systemic mastocytosis is a rare genetic condition that affects the mast cells in the body. Mast cells are a type of white blood cell that play a key role in the body’s immune response. In systemic mastocytosis, these mast cells become abnormal and accumulate in various tissues and organs throughout the body, including the bone marrow, skin, and gastrointestinal tract.

This condition is typically associated with a variety of signs and symptoms, depending on the severity and extent of the mast cell accumulation. Some individuals with systemic mastocytosis may experience symptoms such as flushing, itching, abdominal pain, and gastrointestinal disturbances. In more severe cases, systemic mastocytosis can lead to bone pain, fractures, and organ dysfunction.

Research on systemic mastocytosis is ongoing, with scientists trying to better understand the genetic causes and underlying mechanisms of this condition. Several genes have been identified as potentially contributing to the development of systemic mastocytosis, and studies are underway to learn more about their role in the disease.

Additional information on systemic mastocytosis can be found in scientific articles and medical resources such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide valuable information on the classification, clinical features, and treatment options for systemic mastocytosis. Patients and their families can also find support and advocacy through organizations dedicated to mastocytosis research and awareness.

In summary, systemic mastocytosis is a rare and potentially serious condition characterized by the abnormal accumulation of mast cells in various tissues and organs. While it can cause a range of symptoms and complications, ongoing research and information resources are available to support patients and their healthcare providers in understanding and managing this condition.

Frequency

The frequency of systemic mastocytosis varies depending on the subtype of the condition. In general, systemic mastocytosis is considered a rare disease, affecting an estimated 1 in 10,000 individuals. However, some specific subtypes of the disease are even rarer.

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Systemic mastocytosis can present in different forms, including indolent systemic mastocytosis (ISM), smoldering systemic mastocytosis (SSM), aggressive systemic mastocytosis (ASM), and systemic mastocytosis with associated hematologic neoplasm (SM-AHN).

Indolent systemic mastocytosis is the most common form of the disease, accounting for approximately 80-90% of all cases. It is characterized by mild-to-moderate symptoms and has a generally indolent course.

Aggressive systemic mastocytosis and systemic mastocytosis with associated hematologic neoplasm are less common, accounting for about 10-20% of cases. These forms of the disease are more severe and may be associated with additional blood or bone marrow disorders.

The frequency of these rare forms of systemic mastocytosis is not well-established, as they are less commonly reported in the literature and clinical trials. However, research and studies are ongoing to learn more about the frequency and clinical characteristics of these subtypes.

The classification and naming of systemic mastocytosis subtypes have evolved over time, with changes in the understanding of the disease and advances in genetic testing. Inheritance of systemic mastocytosis is thought to be genetic, with certain genes associated with an increased risk. However, the exact causes of the condition are still not fully understood.

For more information on the frequency and classification of systemic mastocytosis, additional resources can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, ClinicalTrials.gov, and the Mastocytosis Society.

Causes

  • Systemic mastocytosis is caused by an excessive number of mast cells in the body. These mast cells can be found in various tissues, such as the skin, bone marrow, and blood.
  • The severity of the disease depends on the number of mast cells and their activation in different organs.
  • The condition typically results from genetic mutations that cause the mast cells to multiply and accumulate in various organs.
  • Most cases of systemic mastocytosis are associated with a genetic mutation called KIT D816V, which is found in about 90% of patients.
  • Additional genetic mutations have also been identified in some cases, but they are less common.
  • Systemic mastocytosis can also develop as a secondary condition in patients with other diseases, such as hematologic disorders or certain types of cancers.

Inheritance of systemic mastocytosis is rare. Studies have suggested that it is more likely to occur sporadically rather than being passed down from parents to children.

Further research is needed to better understand the genetic and environmental factors that contribute to the development of systemic mastocytosis.

Learn more about the genes associated with Systemic mastocytosis

Systemic mastocytosis is a rare condition characterized by the abnormal proliferation and accumulation of mast cells in various organs and tissues throughout the body. These mast cells play a crucial role in allergic reactions and the body’s immune response. The exact causes of systemic mastocytosis are not fully understood, but genetic mutations have been found to be associated with the condition.

Genes associated with systemic mastocytosis include:

  • KIT: The KIT gene provides instructions for making a protein called KIT receptor tyrosine kinase, which is involved in the growth and development of mast cells. Mutations in this gene can lead to the abnormal proliferation and accumulation of mast cells, contributing to the development of systemic mastocytosis.
  • TET2: The TET2 gene provides instructions for making a protein involved in the regulation of gene activity. Mutations in this gene have been found in some cases of systemic mastocytosis and may play a role in the abnormal growth of mast cells.
  • DNMT3A: The DNMT3A gene provides instructions for making a protein involved in DNA methylation, a process that helps regulate gene activity. Mutations in this gene have also been found in some cases of systemic mastocytosis and may contribute to the abnormal proliferation of mast cells.

Research is ongoing to further understand the role of these genes in systemic mastocytosis and their potential implications for diagnosis, prognosis, and treatment of the condition.

For more information on the genes associated with systemic mastocytosis, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): The OMIM database provides detailed information on genes and genetic disorders, including systemic mastocytosis. You can search for specific genes or diseases associated with systemic mastocytosis and access relevant scientific articles and references.
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to the genetic basis of systemic mastocytosis and find additional information on the genes associated with the condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials investigating various diseases, including systemic mastocytosis. You can find ongoing studies that focus on the genetic aspects of the condition and explore potential treatment options.
See also  TSC2 gene

By understanding the genetic factors involved in systemic mastocytosis, researchers hope to develop more targeted and effective therapies for this rare and often debilitating condition. Advocacy organizations and patient support groups also play a critical role in raising awareness, supporting research efforts, and providing resources for individuals affected by systemic mastocytosis.

Inheritance

The genetic inheritance of systemic mastocytosis is not fully understood, but it is believed to involve mutations in certain genes that control the development and function of mast cells. The most well-known gene associated with systemic mastocytosis is called KIT, which encodes a protein involved in the growth and survival of mast cells. Mutations in the KIT gene can lead to the excessive production and accumulation of mast cells in various tissues and organs.

In addition to the KIT gene, other genes have also been identified in rare cases of systemic mastocytosis. These include genes such as MPL, SRSF2, and ASXL1, which are involved in the regulation of blood cell development. Mutations in these genes can contribute to the development and progression of the disease, particularly the more severe forms of systemic mastocytosis.

The genetic mutations associated with systemic mastocytosis can be inherited from one or both parents or can occur spontaneously during a person’s lifetime. Inheritance of the disease follows an autosomal dominant pattern, which means that a person with a mutation in one copy of the gene has a 50% chance of passing the mutation on to each of their children.

It is important to note that not all individuals with inherited gene mutations develop systemic mastocytosis. The presence of a mutation increases the risk of developing the condition, but other factors, such as environmental triggers, are also thought to play a role in the development and severity of the disease.

Due to the rarity of systemic mastocytosis, genetic testing for mutations associated with the disease is not routinely recommended. However, it may be considered in certain cases, particularly when there is a strong family history of the condition or when the disease presents in a very young patient.

For more information on the genetic inheritance of systemic mastocytosis, additional resources are available from scientific research articles, advocacy and support organizations, and genetic testing centers. Some helpful references include:

  • The National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on the genetic basis of rare diseases (https://www.omim.org/)
  • The ClinicalTrials.gov database, which lists ongoing research studies on systemic mastocytosis and related diseases (https://clinicaltrials.gov/)
  • The Mastocytosis Society (https://tmsforacure.org/)
  • The Mastocytosis Center (https://www.mastocytosiscenter.com/)
  • PubMed, a database of scientific publications, where you can find more articles on systemic mastocytosis and its genetic causes (https://pubmed.ncbi.nlm.nih.gov/)

Other Names for This Condition

  • Systemic mastocytosis
  • Genetic systemic mastocytosis
  • Indolent systemic mastocytosis
  • Systemic mast cell disease
  • Mastocytosis, Systemic
  • Mastocytosis, Systemic, with associated hematologic disorders
  • Mastocytosis, Indolent
  • Mastocytosis, variant forms of, with systemic episodes of symptoms and signs

These are just a few of the many other names used to refer to this condition. It is important to note that systemic mastocytosis is a rare disease, and its frequency varies depending on the population being studied. The various forms of mastocytosis typically develop from mutations in certain genes, which can be inherited in a genetic fashion. However, most cases of systemic mastocytosis occur sporadically and are not associated with a family history of the condition.

For more information about the causes, testing, classification, severity, and treatment of mastocytosis, you can refer to these articles and resources:

  1. Omim – a catalog of human genes and genetic diseases
  2. PubMed – a database of scientific research articles
  3. Center for the Study of Rare Diseases – a center dedicated to researching and supporting patients with rare diseases
  4. Mastocytosis Advocacy and Support – an advocacy organization for individuals with mastocytosis
  5. National Institutes of Health – a government agency that provides information and resources about various diseases and conditions

By learning more about systemic mastocytosis and other forms of mastocytosis, we can better support and care for individuals affected by this condition.

Additional Information Resources

There are several resources available for patients and healthcare professionals seeking additional information about systemic mastocytosis. These resources provide comprehensive information, support, and advocacy for individuals affected by this rare blood condition.

  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides educational resources, support services, and information on rare diseases. Their website offers detailed information on systemic mastocytosis, including symptoms, genetic causes, inheritance patterns, and treatment options.
  • Office of Rare Diseases Research (ORDR): ORDR is a branch of the National Institutes of Health (NIH) that focuses on advancing research and treatment for rare diseases. They provide a comprehensive catalog of rare diseases, including systemic mastocytosis, along with references to relevant scientific studies and clinical trials.
  • Genetics Home Reference: Genetics Home Reference is a website maintained by the NIH that provides consumer-friendly information about genetic conditions. They offer an overview of systemic mastocytosis, including information on the genes associated with the condition and its inheritance patterns.
  • The Mastocytosis Society: The Mastocytosis Society is a non-profit organization dedicated to supporting individuals with mastocytosis and advocating for research and treatment advancements. Their website provides resources for patients and healthcare professionals, including information on symptom management, testing options, and ongoing research studies.
  • PubMed: PubMed is a database of scientific research articles maintained by the National Library of Medicine. Searching for “systemic mastocytosis” on PubMed will yield a wealth of scientific literature on the topic, including information on diagnosis, treatment, and genetics.

In addition to these resources, patients and healthcare professionals can also consult with specialized research centers and clinics that focus on the diagnosis and treatment of systemic mastocytosis. These centers often have dedicated teams of experts who are knowledgeable about the most current research and can provide personalized care and treatment recommendations.

By accessing these additional information resources, individuals can learn more about systemic mastocytosis, its genetic causes, associated symptoms, and available treatment options. This knowledge can help patients and healthcare professionals better understand the condition and develop more effective management strategies.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of systemic mastocytosis, a rare condition characterized by the abnormal growth and accumulation of mast cells in various organs and tissues of the body. This testing helps identify specific genetic abnormalities that can cause this condition and provides valuable information about its inheritance patterns, severity, and associated diseases.

See also  Mucopolysaccharidosis type VII

There are several genetic tests available to diagnose systemic mastocytosis. These tests analyze the DNA of a patient’s blood or skin cells to identify mutations in specific genes associated with mastocytosis. The most common genes tested include KIT, which is associated with most forms of mastocytosis, and other genes like PDGFRA and BRAF, which are associated with more rare forms of the disease.

By learning more about the genetic causes of mastocytosis, researchers and healthcare professionals can better understand the underlying mechanisms of the condition and develop targeted treatments. Genetic testing also provides valuable information to support clinical trials and guide patient care.

For patients and their families, genetic testing can also be an important tool for understanding their condition and making informed decisions about treatment and management options. It can help determine the likelihood of passing on the condition to future generations and provide valuable information for family planning.

There are several resources available online to learn more about genetic testing for systemic mastocytosis. Websites like OMIM (Online Mendelian Inheritance in Man), Pubmed, and clinicaltrialsgov provide scientific articles, references, and clinical trial information. Advocacy and support organizations, such as the Mastocytosis Society, can offer additional information and resources on genetic testing.

In conclusion, genetic testing is a valuable tool in the diagnosis, management, research, and support of systemic mastocytosis. It helps identify specific genetic abnormalities associated with the condition, provides important information about its inheritance patterns and associated diseases, and guides treatment decisions. By utilizing genetic testing, healthcare professionals and patients can gain a better understanding of this rare disease, leading to improved outcomes and quality of life for those affected.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about genetic and rare diseases, including systemic mastocytosis. GARD is a centralized source of information gathered from various scientific articles, research studies, and other resources to support patients, caregivers, and healthcare professionals in understanding these rare conditions.

Systemic mastocytosis is a rare hematologic condition that affects the bone marrow and other organs in the body. It is typically caused by mutations in certain genes, such as KIT, and is characterized by an abnormal increase in mast cells. Mast cells play a role in the body’s allergic responses and release substances that can cause symptoms like itching, flushing, and severe allergic reactions.

Systemic mastocytosis can present with a wide range of symptoms and severity. The frequency of the condition is not well established, but it is considered a rare disease. The severity of symptoms and clinical manifestations can vary from indolent forms with mild symptoms to more severe forms that can affect multiple organ systems.

Diagnosis of systemic mastocytosis may involve various tests, such as blood and bone marrow testing, to analyze the mast cells and assess their genetic characteristics. Additional genetic and molecular testing may be required to identify specific mutations associated with the condition.

The Genetic and Rare Diseases Information Center offers a catalog of articles and resources on systemic mastocytosis, with references to scientific studies, PubMed articles, and other sources. This information can help patients and healthcare professionals learn more about the condition, its inheritance patterns, associated symptoms, and available treatment options.

In addition to information on systemic mastocytosis, GARD provides resources and support for other rare genetic diseases. It also offers links to clinical trials, advocacy organizations, and research centers involved in rare diseases. This comprehensive resource aims to empower patients, caregivers, and healthcare professionals with reliable and up-to-date information on rare genetic conditions like systemic mastocytosis.

Key Points about Systemic Mastocytosis:
  • Systemic mastocytosis is a rare hematologic condition characterized by an abnormal increase in mast cells.
  • It is typically caused by genetic mutations in certain genes, such as KIT.
  • The condition can present with a wide range of symptoms and severity.
  • Diagnosis may involve various tests, including blood and bone marrow testing.
  • GARD provides a catalog of articles and resources on systemic mastocytosis for more information.
  • The Genetic and Rare Diseases Information Center offers additional resources and support for rare genetic diseases.

Patient Support and Advocacy Resources

  • The Mastocytosis Society: The Mastocytosis Society is a patient advocacy organization that provides support, information, and resources for individuals affected by mastocytosis and related diseases. Their website offers educational materials, support group information, and resources for finding specialists in the field. Visit their website at https://tmsforacure.org/.

  • National Organization for Rare Disorders (NORD): NORD is a non-profit organization that provides support and advocacy for individuals with rare diseases, including systemic mastocytosis. Their website offers information about the condition, resources for finding specialists, and support group information. Visit their website at https://rarediseases.org/.

  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information and resources for patients and families affected by genetic and rare diseases. Their website offers information about systemic mastocytosis, including genetic inheritance, causes, and associated conditions. Visit their website at https://rarediseases.info.nih.gov/diseases/6134/systemic-mastocytosis.

  • PubMed: PubMed is a database of scientific articles and studies that provides information about systemic mastocytosis and related hematologic diseases. It can be used to search for research papers, case studies, and clinical trials related to the condition. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a database of human genes and genetic disorders that provides information about the genetic basis of systemic mastocytosis and related diseases. It can be used to learn more about the genes involved in the condition and their associated clinical features. Visit their website at https://omim.org/.

  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. It can be used to find information about ongoing clinical trials related to systemic mastocytosis, including testing of new treatments and therapies. Visit their website at https://clinicaltrials.gov/.

  • References: For more information about systemic mastocytosis and related diseases, you can refer to the following resources and articles:

    • Castells M. Mastocytosis. UpToDate. Retrieved from: https://www.uptodate.com/contents/mastocytosis
    • Valent P, et al. Classification and management of mastocytosis: Current status and future perspectives. Expert Review of Hematology. 2017;10(2):137-150.
    • Pheochromocytoma. In: Scriver CR, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

These resources provide valuable support and information for patients and families affected by systemic mastocytosis and related diseases. They can help individuals learn more about the condition, find specialized medical care, and connect with others facing similar challenges.

Research Studies from ClinicalTrialsgov

The condition of systemic mastocytosis is a rare genetic disorder characterized by the abnormal growth and accumulation of mast cells in various organs, particularly the skin and bone marrow. Research studies on this condition are being conducted to gain more information about the causes, genetic inheritance, and associated hematologic diseases. These studies aim to develop better diagnostic testing, classification, and treatment options for patients with systemic mastocytosis.

See also  PIK3CD gene

ClinicalTrials.gov is a central catalog of research studies being conducted worldwide. It provides a platform where researchers can find information about ongoing trials related to systemic mastocytosis and other rare genetic diseases.

By searching ClinicalTrials.gov, researchers can access additional resources and references to scientific articles, patient advocacy centers, and more. This information can help to support the development of new treatments and improve the overall understanding of systemic mastocytosis.

Some of the research studies listed on ClinicalTrials.gov include:

  • A study on the frequency and genetic causes of indolent systemic mastocytosis
  • A clinical trial investigating the efficacy of a targeted therapy for advanced systemic mastocytosis
  • An observational study evaluating the impact of temperature on mast cell activation in systemic mastocytosis patients
  • A study on the classification and clinical characteristics of different forms of systemic mastocytosis
  • A research study aiming to identify specific genes associated with systemic mastocytosis and their role in disease development

These research studies, along with many others listed on ClinicalTrials.gov, provide valuable insights into the genetic and cellular mechanisms underlying systemic mastocytosis. By participating in these studies, patients and researchers can contribute to the advancement of knowledge in this rare condition.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from Online Mendelian Inheritance in Man (OMIM) provides a comprehensive resource for understanding the genetic basis of diseases, including mastocytosis. Mastocytosis is a rare condition characterized by an abnormal accumulation of mast cells in various organs of the body.

OMIM is a valuable tool for researchers, clinicians, and patient advocacy groups interested in learning more about the genetic causes, clinical manifestations, and management of mastocytosis and other associated diseases.

OMIM provides a wealth of information on the genetic inheritance patterns, clinical features, and severity of various forms of mastocytosis. It catalogs both the genetic and clinical aspects of the condition, making it a valuable resource for medical professionals and patients alike.

The catalog includes names and symbols of genes associated with mastocytosis, as well as references to scientific articles, studies, and clinical trials investigating the genetic basis and management of the condition. These resources can support further research and provide evidence-based information for patient care.

OMIM also classifies mastocytosis into different subtypes based on clinical and genetic characteristics. This classification system helps to differentiate between indolent forms of mastocytosis, which typically cause skin symptoms, and more severe systemic forms that develop with associated hematologic abnormalities or involvement of other organs such as bone marrow and central nervous system.

The frequency, genetic inheritance, and severity of mastocytosis can vary depending on the specific subtype. OMIM provides additional information on these aspects, facilitating a better understanding of the condition and guiding clinical management decisions.

In addition to mastocytosis, OMIM catalogs numerous other genetic diseases, providing a comprehensive repository of information on their genetic causes, clinical features, and management approaches. This makes OMIM a valuable resource for researchers, healthcare professionals, and patient advocacy groups interested in a wide range of genetic diseases.

In summary, OMIM’s catalog of genes and diseases is a valuable resource for understanding the genetic basis, clinical manifestations, and management of mastocytosis and other associated diseases. Its comprehensive collection of genetic, clinical, and scientific information supports research, patient care, and advocacy efforts in the field of systemic mastocytosis and other rare diseases.

Scientific Articles on PubMed

Systemic mastocytosis is a rare genetic hematologic disorder characterized by the proliferation of mast cells in various tissues of the body. Inheritance of this condition is often associated with specific genetic mutations. Classification of systemic mastocytosis and its variants is based on clinical and histopathologic features.

There are numerous scientific articles available on PubMed that provide valuable information about systemic mastocytosis. These articles offer insights into the genetic and hematologic aspects of the condition, as well as its associated symptoms and severity. They also discuss the different forms of mastocytosis, their causes, and the available treatment options.

Advocacy groups and research centers focused on mastocytosis often publish articles on PubMed, providing more resources and research opportunities for patients and healthcare professionals. Most of the articles include clinical trials and studies conducted to evaluate the effectiveness of various treatments for systemic mastocytosis.

PubMed offers a vast catalog of scientific articles on systemic mastocytosis. These articles cover a wide range of topics, including the role of mast cells in other diseases, the genetic factors associated with the condition, and the development of new diagnostic tools and treatment modalities.

The articles collected on PubMed can help clinicians and researchers learn more about the etiology, pathogenesis, and clinical presentation of systemic mastocytosis. They provide valuable information about the frequency and severity of the condition, as well as the genetic testing procedures and the genes involved.

In addition to scientific articles, PubMed also provides references to central resources such as OMIM and ClinicalTrials.gov. These resources offer additional information about systemic mastocytosis, including patient advocacy groups, research centers, and genetic testing centers.

Studies published in scientific journals form the basis for the understanding and management of systemic mastocytosis. They contribute to the development of new diagnostic criteria, treatment guidelines, and prognostic indicators for this rare disease.

In conclusion, the scientific articles available on PubMed offer a wealth of information about systemic mastocytosis. They provide valuable insights into the genetic, hematologic, and clinical aspects of the condition, enabling clinicians and researchers to better understand and manage this rare disease.

References

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