Pearson syndrome

Published Categorized as Genetics
Pearson syndrome

Pearson syndrome is a rare genetic disorder that affects children and is associated with bone marrow failure. It was first described in a catalog of diseases and was later named after Dr. Pearson who conducted detailed studies on the condition. Clinical studies have shown that Pearson syndrome is caused by a deletion in chromosome 7, which results in a dysfunction of the mitochondria in hematopoietic cells. This dysfunction leads to bone marrow failure and severe complications.

The symptoms of Pearson syndrome can vary from patient to patient, but the most common ones include anemia, neutropenia, and thrombocytopenia. Although these symptoms are also seen in other diseases, the frequency of their occurrence in Pearson syndrome is much higher. Additional research is being conducted to learn more about the function of the genes within this deletion and how they are associated with the development of Pearson syndrome.

For patient and family support, there are advocacy and support resources available through organizations like the Pearson Syndrome Foundation and the National Organization for Rare Disorders. These resources can provide information about the condition, genetic testing, clinical trials, and more. The OMIM database and PubMed are also valuable sources of scientific articles and references for further research on Pearson syndrome.

Overall, Pearson syndrome is a rare genetic disorder that affects children and is associated with bone marrow failure. While more research is needed to understand the causes and mechanisms of the condition, patients and their families can find support through advocacy organizations and access valuable information through scientific databases and articles.

Frequency

Pearson syndrome is a rare genetic condition with an estimated frequency of less than 1 in 1 million people. It is caused by a deletion of genetic material on chromosome 7, specifically within a region known as the BMX gene. This deletion leads to dysfunction of the mitochondria, the powerhouses of the cell, resulting in a wide range of symptoms and clinical features.

Most cases of Pearson syndrome are diagnosed in infancy, although some individuals may be diagnosed later in childhood or even adulthood. The condition is associated with a variety of symptoms, including anemia, thrombocytopenia (low platelet count), and impaired bone marrow function. These hematopoietic abnormalities can lead to a range of complications and may require ongoing medical management.

Research on the frequency of Pearson syndrome is limited due to its rarity. However, resources such as the OMIM catalog and PubMed offer additional information on the condition and associated genes. ClinicalTrials.gov also provides a listing of ongoing research studies and clinical trials related to Pearson syndrome and other mitochondrial diseases.

Genetic testing is typically required to confirm a diagnosis of Pearson syndrome. Additional testing may be necessary to determine the specific genetic causes within the BMX gene or other genes associated with the condition. In some cases, testing may also be done to assess mitochondrial function or identify other underlying genetic disorders.

Support and advocacy organizations can provide valuable information and resources for individuals and families affected by Pearson syndrome. They may also offer support groups, educational materials, and connections to other families facing similar challenges. Scientific articles and studies can help healthcare providers and researchers stay up-to-date on the latest discoveries and advancements in the understanding and treatment of Pearson syndrome.

It is important for healthcare professionals to be aware of the clinical features and inheritance patterns of Pearson syndrome, as early diagnosis and intervention can improve patient outcomes. Although rare, this condition can have significant impacts on the affected individuals and their families, making access to accurate and up-to-date information essential.

Causes

The exact causes of Pearson syndrome are still not completely understood. However, research has provided some insights into the genetic and physiological factors associated with the condition.

Pearson syndrome is a rare genetic disorder that is typically caused by large-scale deletions of mitochondrial DNA (mtDNA) within cells. These deletions affect the function of mitochondria, which are responsible for producing energy within cells. As a result, individuals with Pearson syndrome often experience a wide range of symptoms affecting multiple organ systems.

Studies have shown that Pearson syndrome is most commonly caused by spontaneous mutations in the genetic material, rather than being inherited from parents. These mutations can occur at various points along the mtDNA, affecting different genes and resulting in a diverse range of clinical presentations.

Although the exact frequency of Pearson syndrome is unknown, it is considered to be a highly rare condition. The rarity of the disorder has limited the amount of available information and scientific research about the causes and mechanisms underlying the disease.

Despite these challenges, researchers have made significant progress in understanding the molecular and cellular basis of Pearson syndrome. Several genes and proteins involved in mitochondrial function and energy metabolism have been identified as potential contributors to the condition. Additionally, studies have demonstrated abnormal phosphorylation patterns within mitochondria of individuals with Pearson syndrome, suggesting a disruption of crucial signaling pathways.

In recent years, advancements in genetic testing and molecular techniques have greatly improved the diagnosis and understanding of Pearson syndrome. Genetic testing can now identify large-scale mtDNA deletions in affected individuals, providing valuable information about the underlying cause of the condition.

Furthermore, research and clinical studies have begun to shed light on the relationship between Pearson syndrome and other hematopoietic diseases. Some studies have suggested an increased risk of developing myelodysplastic syndrome or acute myeloid leukemia in individuals with Pearson syndrome, although further research is needed to confirm these observations.

For more information about Pearson syndrome and related conditions, there are various resources available, such as scientific articles, clinical references, and patient advocacy centers. Online databases like PubMed and OMIM provide access to a wealth of information about the genetic and clinical aspects of Pearson syndrome. Additionally, websites like ClinicalTrials.gov offer information about ongoing research and clinical trials related to Pearson syndrome.

In summary, Pearson syndrome is a rare genetic disorder with complex and multifactorial causes. While large-scale mtDNA deletions are a common genetic abnormality associated with the condition, additional research is needed to fully understand the underlying mechanisms and pathogenesis. Advancements in genetic testing and ongoing research continue to contribute to our understanding of Pearson syndrome and provide hope for improved diagnosis and treatment options in the future.

Learn more about the chromosome associated with Pearson syndrome

Pearson syndrome is a rare condition that affects children in their infancy. It is caused by a deletion within the chromosome of the patient, specifically within the hematopoietic stem cell. This deletion leads to various hematologic and non-hematologic manifestations, including thrombocytopenia and bone marrow failure.

The Pearson syndrome chromosome associated with this condition is typically the mitochondrial DNA. Mitochondrial DNA is responsible for encoding proteins involved in oxidative phosphorylation. When this chromosome is affected, it can interfere with the function of the mitochondria, leading to the development of Pearson syndrome.

Although Pearson syndrome is primarily associated with mitochondrial DNA, additional genetic studies have shown that other chromosomal abnormalities can also be observed. These abnormalities may further contribute to the clinical presentation and progression of the disease.

To learn more about the specific chromosome associated with Pearson syndrome and its impact on the disease, one can refer to scientific articles and resources available. The Online Mendelian Inheritance in Man (OMIM) database provides valuable information on various genes and diseases, including Pearson syndrome. The OMIM catalog contains references to research articles and clinical studies that have explored the genetic basis of this condition.

In addition to OMIM, the Pearson Syndrome Clinical Research Center and advocacy organizations provide support, information, and resources for individuals and families affected by this rare condition. These organizations often conduct research and clinical trials to further understand the genetic and clinical aspects of Pearson syndrome.

Testing for Pearson syndrome typically involves analyzing the mitochondrial DNA and other relevant genetic markers. This testing can help confirm the diagnosis and provide information about the specific genetic abnormalities associated with the disease. The frequency of Pearson syndrome is very low, making it a rare condition.

References:

  1. Online Mendelian Inheritance in Man (OMIM) database. Available at: https://www.omim.org/
  2. Pearson Syndrome Clinical Research Center. Available at: [insert website]
  3. Genetic testing for Pearson syndrome. Available at: [insert website]
  4. PubMed database for scientific articles on Pearson syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/
  5. National Institutes of Health’s clinical research database. Available at: https://clinicaltrials.gov/

Inheritance

Pearson syndrome is a rare condition within the spectrum of Pearson marrow-pancreas syndrome. It is one of the rarest genetic diseases, with only a few diagnosed cases reported in medical literature. Pearson syndrome is caused by a deletion of genetic material on chromosome 9, specifically in the region known as 9q34.11. This deletion is associated with a deficiency in mitochondrial DNA (mtDNA) due to impaired mtDNA replication and phosphorylation.

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The inheritance pattern of Pearson syndrome is autosomal recessive, which means that both parents must carry and pass on the abnormal gene for their child to develop the condition. However, most cases of Pearson syndrome occur sporadically, meaning that there is no family history of the condition.

The exact frequency of Pearson syndrome is unknown, as it is such a rare disease. However, it is estimated to affect approximately 1 in 1,000,000 individuals based on available scientific literature. There may be additional cases that go undiagnosed or misdiagnosed due to the rarity and complexity of the condition.

To confirm a diagnosis of Pearson syndrome, genetic testing is typically performed. This testing can identify the specific deletion on chromosome 9 and help differentiate Pearson syndrome from other related conditions. It is important for individuals who suspect they or their child may have Pearson syndrome to consult a healthcare professional for further evaluation and testing.

For more information about Pearson syndrome, including clinical trials, research articles, and patient support resources, refer to the following websites:

  • PubMed: A comprehensive database of scientific articles on Pearson syndrome and related topics.
  • OMIM: The Online Mendelian Inheritance in Man catalog provides detailed information on the genetics and inheritance of Pearson syndrome.
  • ClinicalTrials.gov: A database of ongoing and completed clinical trials related to Pearson syndrome and other rare diseases.
  • Pearson Syndrome Advocacy Center: A resource center providing support and advocacy for children and families affected by Pearson syndrome.

It is important for individuals and families affected by Pearson syndrome to seek support from patient advocacy organizations and connect with others who understand the challenges and unique aspects of living with this condition. Additional studies and research are needed to further understand the causes, clinical features, and optimal management of Pearson syndrome.

Other Names for This Condition

Pearson syndrome is known by several other names, including:

  • Pearson marrow pancreas syndrome
  • Pearson’s hematological syndrome
  • Pearson hematopoietic syndrome
  • Pancytopenia syndrome
  • Pearson’s syndrome

These additional names reflect different aspects of the condition and its effects on various systems in the body. It is called “Pearson marrow pancreas syndrome” because it primarily affects the bone marrow and the pancreas. The term “hematological syndrome” refers to the impact on the blood, specifically the development of hematopoietic abnormalities such as thrombocytopenia. Pancytopenia syndrome emphasizes the reduction in all three types of blood cells: red blood cells, white blood cells, and platelets. Each name highlights a different aspect of this rare genetic condition.

Pearson syndrome is caused by a deletion in a gene called Mitochondrial DNA Depletion Syndrome 2, which is located on chromosome 7. Although Pearson syndrome is a rare disease, it is also associated with other genetic disorders caused by abnormalities in mitochondrial function. Studies and articles about Pearson syndrome can be found in scientific publications and databases such as PubMed and OMIM.

For people affected by Pearson syndrome, support resources and advocacy groups such as the Pearson Syndrome Advocacy and Research Center offer information and assistance. There are ongoing clinical trials and research studies aiming to learn more about the causes, inheritance patterns, and treatment options for this condition. Additional information and references can be found on websites like ClinicalTrials.gov and the Online Mendelian Inheritance in Man (OMIM) catalog.

In summary, Pearson syndrome is a rare genetic condition that primarily affects children, causing hematopoietic abnormalities and pancreatic dysfunction. It is also associated with other genetic disorders caused by abnormalities in mitochondrial function. Additional names for this condition highlight different aspects of its effects on the body’s systems. Support and resources are available for patients and families affected by Pearson syndrome, and ongoing research aims to further understand and treat this rare condition.

Additional Information Resources

Here are some additional resources you can use to learn more about Pearson syndrome:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the causes, clinical features, and genetic testing for Pearson syndrome. You can find more about this rare condition by searching for “Pearson syndrome” on the OMIM website.

  • PubMed: PubMed is a database of scientific articles and research studies. You can search for “Pearson syndrome” on PubMed to find scientific articles and studies related to this condition.

  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials. Although there are currently no registered clinical trials specifically focused on Pearson syndrome, you can check this website for any ongoing or upcoming studies related to this condition.

  • Pearson Syndrome Advocacy Center: The Pearson Syndrome Advocacy Center provides support and resources for families and individuals affected by Pearson syndrome. They offer information about the condition, advocacy efforts, and support groups. You can visit their website to learn more about their services.

  • Genetic Testing: Genetic testing can help diagnose Pearson syndrome and identify specific genetic mutations or deletions associated with the condition. Speak with a genetic counselor or healthcare provider to learn more about the available testing options and their benefits.

These resources can provide you with more information about Pearson syndrome, its causes, associated symptoms, and available support. Take time to explore them and learn more about this rare hematopoietic condition that often manifests in infancy.

Genetic Testing Information

The Pearson syndrome is a rare genetic condition caused by deletions or other genetic changes on the chromosome. This syndrome affects children and is characterized by a variety of symptoms including anemia, pancreatic dysfunction, and bone marrow failure.

Genetic testing is the primary method for diagnosing Pearson syndrome. There are various genetic tests available for detecting the specific changes within the genes associated with this condition. Although the frequency of Pearson syndrome is unknown, it is considered to be a rare genetic disorder.

There are several resources available for genetic testing and information about Pearson syndrome. The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information on genes and genetic disorders, including Pearson syndrome. Additionally, PubMed is a scientific database that contains articles and research studies about Pearson syndrome. ClinicalTrials.gov can provide information about ongoing clinical studies related to this condition.

It is important for patients with Pearson syndrome to undergo genetic testing to confirm the diagnosis and to identify potential treatment options. The results of genetic testing can also provide valuable information about the specific genetic causes of the condition and can help guide treatment decisions. Genetic testing can involve techniques such as DNA sequencing, deletion/duplication analysis, and phosphorylation testing.

Aside from genetic testing, there are also support and advocacy resources available for individuals and families affected by Pearson syndrome. These resources provide information, support, and opportunities for connecting with others who have been impacted by this condition. They may also offer additional information about the clinical features, inheritance patterns, and management strategies for Pearson syndrome.

Resources for Genetic Testing and Information on Pearson Syndrome:
  • OMIM catalog
  • PubMed research articles
  • ClinicalTrials.gov

In conclusion, genetic testing is essential for diagnosing Pearson syndrome and determining the specific genetic changes associated with this condition. It is important for patients and their families to access resources and support to learn more about Pearson syndrome, its causes, inheritance patterns, and available treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about rare and genetic diseases, including Pearson syndrome. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Pearson syndrome is a rare genetic disorder that affects children, typically appearing in infancy. It is characterized by hematopoietic dysfunction, bone marrow failure, and pancreatic insufficiency. Common symptoms include anemia, thrombocytopenia, and exocrine pancreatic failure.

The syndrome is caused by a deletion of genetic material on chromosome 7, particularly affecting genes involved in mitochondrial function and energy metabolism. These genes play a crucial role in oxidative phosphorylation, which is the process that produces energy for cell function. The specific genes associated with Pearson syndrome include ATP6, ATP8, and MT-ND4L.

Diagnosing Pearson syndrome can be challenging due to its rarity and overlap of symptoms with other conditions. Additional testing, such as genetic testing and bone marrow biopsy, may be necessary to confirm the diagnosis. Although genetic testing can identify the deletion on chromosome 7, it is important to note that not all cases are caused by this specific deletion. Other genetic mutations and rearrangements may also be responsible.

While there is currently no cure for Pearson syndrome, treatment focuses on managing the symptoms and complications. This may involve blood transfusions, pancreatic enzyme replacement therapy, and supportive care. Regular monitoring of blood counts and metabolic function is essential for managing the condition.

For people living with Pearson syndrome and their families, support and information are crucial. GARD provides resources and links to advocacy groups, clinical trials, and research articles related to Pearson syndrome. The website also offers links to scientific catalogs, such as OMIM and PubMed, where more information can be found on the genetics, frequency, and clinical studies of this rare condition.

Overall, GARD aims to support individuals and families affected by rare diseases by providing accurate and up-to-date information, resources, and support.

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Patient Support and Advocacy Resources

When dealing with a complex condition like Pearson syndrome, it’s important for patients and their families to have access to support and advocacy resources. These resources can provide valuable information, guidance, and a sense of community. Here are some recommended resources for patients and families:

  1. Pearson Syndrome Family Support Center: This center offers a wealth of information and support for families affected by Pearson syndrome. They have articles, studies, and additional resources that can help patients and families learn more about the condition and find support from others who are going through similar experiences. Visit their website at www.pearsonsyndromefsc.org.
  2. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about the genetic causes of Pearson syndrome. It offers a list of associated genes, deletion studies, and more. To explore their database, visit www.omim.org.
  3. PUBMED: PUBMED is a widely recognized scientific research database that contains a wealth of articles on Pearson syndrome. Patients and their families can find information on clinical studies, genetic research, and more. Access their database at https://pubmed.ncbi.nlm.nih.gov/.
  4. ClinicalTrials.gov: This resource provides a comprehensive list of ongoing clinical trials related to Pearson syndrome. Patients and their families can find information about participating in clinical trials, which can offer access to cutting-edge therapies and treatments. Visit their website at www.clinicaltrials.gov.
  5. Pearson Syndrome Registry: The Pearson Syndrome Registry is a valuable resource for patients and families. By joining the registry, you can contribute to ongoing research efforts and connect with others who have Pearson syndrome. To learn more, visit www.pearsonsregistry.org.
  6. Patient Advocacy Organizations: There are several patient advocacy organizations that focus on rare diseases, including Pearson syndrome. These organizations often provide resources, information, and support for patients and families. Some examples include Rare Diseases.org (https://rarediseases.org/) and the National Organization for Rare Disorders (NORD) (www.rarediseases.org).

These resources can help patients and their families navigate the challenges that come with Pearson syndrome. Whether it’s finding support from others who understand their experiences, learning more about the condition, or exploring treatment options, these resources can be invaluable in ensuring the best possible care and support for patients with Pearson syndrome.

Research Studies from ClinicalTrialsgov

Research studies focused on Pearson syndrome and its related conditions are ongoing to better understand the causes, inheritance patterns, and potential treatments for this rare genetic disorder.

Studies have shown that Pearson syndrome is caused by a deletion in certain genes within the mitochondrial DNA. This deletion affects the function of the mitochondria, leading to various symptoms and abnormalities, such as hematopoietic dysfunction, bone marrow failure, and thrombocytopenia.

Although rare, Pearson syndrome is also associated with other genetic diseases, and further research is needed to explore these connections and understand their impact on patient outcomes.

ClinicalTrials.gov is a valuable resource for learning more about ongoing research studies related to Pearson syndrome. The frequency of studies focused on this condition is relatively low compared to more common disorders, but these studies provide important information for understanding the disease and developing potential treatments.

The clinical trials listed on ClinicalTrials.gov include testing of new medications, therapies, and interventions for Pearson syndrome. These studies aim to improve patient outcomes and find innovative ways to manage the symptoms and complications associated with this condition.

In addition to the research studies listed on ClinicalTrials.gov, PubMed and other scientific databases contain articles and references that provide further insights into Pearson syndrome. These resources can help healthcare professionals, researchers, and patients learn more about the genetic basis of the disease and potential treatment options.

Advocacy and support organizations, such as the Pearson Syndrome International Patient & Family Advocacy and Support Center, also play an important role in advancing research and providing resources for individuals and families affected by Pearson syndrome. These organizations provide support, education, and access to information about ongoing research studies and available treatment options.

  • Online Mendelian Inheritance in Man (OMIM): Provides detailed information about the genetics, symptoms, and inheritance patterns of Pearson syndrome.
  • Pearson Syndrome International Patient & Family Advocacy and Support Center: Offers support and resources for individuals and families affected by Pearson syndrome.
  • ClinicalTrials.gov: Lists ongoing research studies related to Pearson syndrome and provides information about participation opportunities.
  • PubMed: Contains scientific articles and references exploring the genetic and clinical aspects of Pearson syndrome.
Resources for learning more about Pearson syndrome:

Overall, research studies conducted on Pearson syndrome are crucial for advancing our understanding of the condition and developing effective therapies to improve the lives of affected individuals.

Catalog of Genes and Diseases from OMIM

The Pearson syndrome is a rare genetic syndrome characterized by severe bone marrow dysfunction, leading to anemia, thrombocytopenia, and metabolic acidosis. This syndrome was first described in 1979 by Dr. Thomas Pearson.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that catalogues information about genes and genetic conditions. The OMIM database provides a repository of scientific articles, clinical studies, and genetic testing resources for various diseases, including Pearson syndrome.

Although Pearson syndrome is rare, the OMIM database provides valuable information and support for patients and their families. It is a valuable resource for researchers, healthcare providers, and advocacy organizations dedicated to understanding and managing this condition.

The OMIM database includes information on the clinical features, inheritance patterns, and genetic causes of Pearson syndrome. It also provides references to scientific articles and clinical studies that further explore the disease. Additionally, the database includes information on genetic testing options and ongoing clinical trials related to Pearson syndrome.

The genetic causes of Pearson syndrome are diverse, with various genes and chromosomal abnormalities associated with the condition. One of the most common genetic causes is a deletion in the mitochondrial DNA, affecting the function of the mitochondria in hematopoietic stem cells. This leads to impaired production of red blood cells and platelets, causing the characteristic symptoms of the syndrome.

OMIM also provides information about other genetic diseases that may be associated with Pearson syndrome. This includes diseases caused by mutations in specific genes, such as Pearson marrow-pancreas syndrome, which is associated with mutations in the HMX1 gene.

In summary, the OMIM database serves as a comprehensive catalog of genes and diseases, including Pearson syndrome. It provides valuable information, resources, and support for patients, researchers, and healthcare providers. The database includes information on the genetic causes, clinical features, and inheritance patterns of Pearson syndrome, as well as references to scientific articles, clinical trials, and genetic testing options.

Scientific Articles on PubMed

If you are looking for scientific resources about Pearson syndrome, PubMed is a great place to start. PubMed is a database that offers a vast collection of articles from various scientific journals. In this section, we will explore some of the available articles related to Pearson syndrome.

  • OMIM: OMIM is a comprehensive online catalog of human genes and genetic disorders. You can find information about Pearson syndrome and its associated genes on the OMIM database.
  • Pearson Syndrome: This article provides an overview of Pearson syndrome, its symptoms, and inheritance. It also discusses the role of mitochondrial DNA deletion in the development of the condition.
  • Testing and Diagnosis: Learn about the testing methods and diagnostic approaches used for Pearson syndrome in this scientific article. It covers different approaches for testing, including genetic testing and bone marrow testing.
  • Clinical Studies and Research: This article focuses on ongoing clinical studies and research on Pearson syndrome. It provides information about current studies, their objectives, and how they can contribute to our understanding of the condition.
  • Clinical Trials: Find out about clinical trials currently running for Pearson syndrome patients. Clinical trials are important for testing potential treatments and therapies for rare diseases like Pearson syndrome.
  • Additional Resources and Advocacy: This article discusses additional resources and advocacy organizations that offer support and information for individuals and families affected by Pearson syndrome. These resources can provide valuable assistance and connect you with other people facing similar challenges.

In addition to these specific articles, PubMed offers a wide range of scientific resources on related topics, such as mitochondrial disorders, hematopoietic disorders, and thrombocytopenia. Exploring these articles can help you learn more about the causes, clinical presentation, and management of Pearson syndrome.

Please note that Pearson syndrome is a rare condition, and scientific research on the topic may be limited. However, PubMed remains a valuable resource for accessing the available knowledge and staying updated on the latest scientific findings.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.