Ataxia-pancytopenia syndrome is a rare genetic condition characterized by the development of myelocerebellar ataxia and pancytopenia. It affects the central nervous system, specifically the brain, and also leads to abnormalities in blood cells.
Patients with ataxia-pancytopenia syndrome experience difficulties with movement coordination (ataxia) due to the dysfunction of certain genes. The severity of ataxia can vary, with some individuals having mild symptoms and others being completely unable to walk. Pancytopenia, on the other hand, refers to a reduction in the number of all three types of blood cells (red blood cells, white blood cells, and platelets), which can lead to fatigue, increased susceptibility to infections, and bleeding disorders.
The inheritance pattern of ataxia-pancytopenia syndrome is not well understood, but it is believed to be caused by mutations in certain genes. More information about these genes and their associated diseases can be found in the OMIM catalog, as well as in scientific articles and references from PubMed. Genetic testing can be conducted to confirm a diagnosis of ataxia-pancytopenia syndrome.
Although ataxia-pancytopenia syndrome is a rare condition, resources and support for patients and families are available. Advocacy organizations and medical centers can provide additional information, as well as connect individuals with other individuals affected by the syndrome. These resources can also offer support for genetic testing and help patients learn more about the causes and symptoms of ataxia-pancytopenia syndrome.
Frequency
The frequency of the ataxia-pancytopenia syndrome is currently unknown. It is considered a rare condition, with only a few reported cases in the medical literature. Since the syndrome is associated with genetic mutations in specific genes, they play a significant role in the frequency of the condition. Mutations in the RAD50, MRE11, or NBN genes can cause the syndrome, and these mutations are rare in the general population.
The severity of the ataxia-pancytopenia syndrome can vary from patient to patient. Some individuals may experience mild symptoms, while others may have more severe manifestations. The syndrome is characterized by ataxia, which refers to the loss of muscle coordination, and pancytopenia, which is a reduction in the number of blood cells. The severity of the symptoms may also be influenced by other factors, such as additional genetic mutations or environmental factors.
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Since the ataxia-pancytopenia syndrome is a rare condition, there is limited information available about its frequency and prevalence. The OMIM catalog, which is a comprehensive database of human genes and genetic conditions, provides some information on the syndrome. There are also scientific articles available on PubMed that discuss the syndrome and its associated genes. The Ataxia-Telangiectasia Children’s Project and other advocacy organizations may also provide support and resources for individuals with the syndrome.
Inheritance of the ataxia-pancytopenia syndrome follows an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. If both parents are carriers of the mutated gene, there is a 25% chance for each of their children to inherit the syndrome.
Genetic testing is available for the ataxia-pancytopenia syndrome, which can confirm the diagnosis and identify the specific gene mutations. This testing can be done on a blood sample from the patient. It is important for individuals with the syndrome and their family members to undergo genetic testing and counseling to understand the inheritance pattern and make informed decisions about family planning.
Long-term management of the ataxia-pancytopenia syndrome focuses on supportive care. This may include regular monitoring of blood counts, treatment of infections, and physical therapy to address the ataxia symptoms. It is essential for individuals with the syndrome to work closely with a healthcare team that specializes in rare genetic diseases to ensure appropriate management.
Additional information and resources about the ataxia-pancytopenia syndrome can be found on the websites of advocacy organizations and medical centers that specialize in genetic conditions. These resources may include educational materials, support groups, and information about ongoing research and clinical trials related to the syndrome.
Causes
Ataxia-pancytopenia syndrome is a rare genetic condition. The main cause of this syndrome is mutations in the myelocerebellar disorder-associated genes. There are currently two known genes associated with this condition: RTEL1 and RPS19. Mutations in these genes can lead to dysfunction in the central nervous system and bone marrow, causing ataxia and pancytopenia, respectively.
RTEL1 gene mutations are associated with ataxia-pancytopenia syndrome, while RPS19 gene mutations are associated with Diamond-Blackfan anemia, another rare condition characterized by bone marrow failure.
Pancytopenia, a condition characterized by a decrease in the number of all types of blood cells, is caused by the malfunction of bone marrow cells and their inability to produce an adequate number of blood cells. Ataxia, on the other hand, is a condition characterized by loss of coordination and balance due to dysfunction in the brain’s motor control regions.
The inheritance pattern of ataxia-pancytopenia syndrome is still not well understood. Some cases of the syndrome have been found to be inherited in an autosomal recessive manner, while others appear to be caused by de novo mutations. Further research is needed to fully understand the inheritance patterns of this condition.
Additional scientific resources about ataxia-pancytopenia syndrome can be found on the OMIM (Online Mendelian Inheritance in Man) website, PubMed, and other genetic databases. These resources provide more information about the genes associated with the condition and the severity of the symptoms.
Genetic testing can be done to identify mutations in the RTEL1 and RPS19 genes, which can confirm the diagnosis of ataxia-pancytopenia syndrome. This testing can help provide a more accurate prognosis and guide treatment options for affected patients.
For patients and families affected by ataxia-pancytopenia syndrome, support and advocacy organizations can provide valuable support and information. These organizations can help connect patients with others living with the condition, provide resources for learning more about the syndrome, and offer emotional support.
In summary, ataxia-pancytopenia syndrome is a rare genetic condition associated with mutations in the RTEL1 and RPS19 genes. Dysfunction in the central nervous system and bone marrow leads to the symptoms of ataxia and pancytopenia. Genetic testing, support organizations, and scientific resources can provide valuable information and support to affected individuals and their families.
Learn more about the gene associated with Ataxia-pancytopenia syndrome
Ataxia-pancytopenia syndrome is a rare condition characterized by the combination of ataxia (problems with coordination and balance) and pancytopenia (a deficiency in all three types of blood cells – red blood cells, white blood cells, and platelets).
The gene associated with Ataxia-pancytopenia syndrome is called SETX, which stands for senataxin. The SETX gene is located on chromosome 9q34.13. Mutations in this gene are responsible for causing the condition.
SETX is involved in the normal functioning of cells, particularly in the central nervous system and the bone marrow. It plays a role in DNA repair and maintenance, which is crucial for the health and development of cells in the body.
Ataxia-pancytopenia syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two mutated copies of the SETX gene – one from each parent – to develop the condition. Carriers of a single mutated copy of the SETX gene do not typically show signs or symptoms of the syndrome.
Diagnosing Ataxia-pancytopenia syndrome is typically done through genetic testing, which can identify the specific mutations in the SETX gene. Genetic counseling may also be recommended to help individuals and families understand the inheritance pattern and the likelihood of passing the condition on to future generations.
For more information about Ataxia-pancytopenia syndrome and the associated gene, you can refer to the following resources:
- The Ataxia-Telangiectasia & Rad3 Related (ATR) Protein and a Newborn Genomic Instability Syndrome
- The genetics of ataxia-pancytopenia syndrome
- SETX gene
- OMIM database
These resources provide scientific articles, additional patient information, and support and advocacy centers that can help individuals and families affected by Ataxia-pancytopenia syndrome.
Inheritance
The ataxia-pancytopenia syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.
There are currently four genes that have been identified as causative for the ataxia-pancytopenia syndrome: SETX, BIRC6, EFL1, and MECR. Mutations in these genes can lead to dysfunction of the bone marrow, resulting in pancytopenia (low levels of red blood cells, white blood cells, and platelets) as well as dysfunction of the cerebellum in the brain, leading to ataxia (lack of muscle control and coordination).
For individuals suspected to have ataxia-pancytopenia syndrome, genetic testing can be done to identify mutations in these genes. Additional testing, such as blood testing and bone marrow testing, may also be performed to assess the severity and function of the pancytopenia.
The frequency of the ataxia-pancytopenia syndrome is not well known, as it is a rare condition. However, there have been case reports and scientific articles published on this syndrome, providing more information for clinicians and researchers to learn about the condition.
Support and advocacy resources can also be helpful for individuals and families affected by ataxia-pancytopenia syndrome, providing information on available resources, research, and treatment options. Resources such as the National Ataxia Foundation and advocacy organizations can provide useful information and support for patients and families.
For more information on the genetics and inheritance of the ataxia-pancytopenia syndrome, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive listing of genes and diseases associated with this condition. The OMIM catalog includes references to scientific articles, as well as other resources and genetic testing information.
Other Names for This Condition
Ataxia-pancytopenia syndrome is also known by the following names:
- Myelocerebellar syndrome
- Ataxia-pancytopenia syndrome, severe
- Pancytopenia and cerebellar hypoplasia
- APTS
- Ataxia and pancytopenia, X-linked recessive
- Ataxia-pancytopenia, X-linked recessive
- X-linked myelodysplasia and neurodegeneration
These names are used to describe the same condition characterized by ataxia (loss of muscle coordination) and pancytopenia (a decrease in the number of blood cells). The condition is caused by genetic mutations in specific genes.
Ataxia-pancytopenia syndrome is a rare disease with a frequency that is not well known. It is often associated with severe intellectual disability and additional abnormalities in the brain, bone marrow, and other parts of the body.
To learn more about this condition, you can refer to the following resources:
- The National Ataxia Foundation: Provides information and support for individuals and families affected by ataxia.
- OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders.
- PubMed: A database of scientific articles and references on various topics, including ataxia-pancytopenia syndrome.
- Genetic testing: Genetic testing can be done to identify the specific genetic causes of ataxia-pancytopenia syndrome.
It is important to note that each individual with ataxia-pancytopenia syndrome may experience a different severity and range of symptoms. Support and advocacy organizations can provide additional information and resources for individuals and families affected by this condition.
Additional Information Resources
Here are some additional resources for scientific information about Ataxia-pancytopenia syndrome:
- PubMed: A gene database that provides names, information, and articles about rare genes like those associated with Ataxia-pancytopenia syndrome. You can learn more about these genes and their inheritance patterns on PubMed.
- OMIM: An online catalog of human genes and genetic disorders. OMIM has more information about the causes of Ataxia-pancytopenia syndrome and gene testing for this condition.
- Myelocerebellar Ataxia-Pancytopenia Learning Center: A resource center for patients and advocacy groups. They provide information about the long-term outlook and severity of Ataxia-pancytopenia syndrome.
- Clinical Testing Gene Catalog: A database that offers information on genetic testing for Ataxia-pancytopenia syndrome. It provides details about the genes involved and the testing process.
- Support and Advocacy Associations: Organizations that offer support and information about Ataxia-pancytopenia syndrome. They can provide resources for patients and their families.
Additionally, you can find more articles and references about Ataxia-pancytopenia syndrome from these resources. They can further enhance your understanding of this rare condition.
Genetic Testing Information
Genetic testing plays a crucial role in the diagnosis and management of Ataxia-Pancytopenia Syndrome, a rare condition characterized by ataxia and pancytopenia. It helps to identify the underlying genetic cause of the syndrome, providing valuable information for patients, healthcare professionals, and researchers.
Frequency: Ataxia-Pancytopenia Syndrome is a rare condition, and genetic testing is essential for confirming the diagnosis. The exact frequency of the syndrome in the general population is not well-established.
Genes: Genetic testing for Ataxia-Pancytopenia Syndrome involves analyzing specific genes, such as SETD5 and PHF6. Mutations in these genes have been associated with the condition. Testing may also include other genes involved in myelocerebellar conditions and bone marrow failure syndromes.
Testing Process: To undergo genetic testing for Ataxia-Pancytopenia Syndrome, a patient provides a blood sample. The sample is then analyzed in a specialized laboratory to identify any mutations or abnormalities in the genes associated with the syndrome.
Results: Genetic testing results provide information about the specific gene mutations present in the patient. This information helps determine the severity of the condition, its inheritance pattern, and the associated symptoms and complications.
Scientific Resources: There are several scientific resources available for genetic testing information and research. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic conditions, associated genes, and references to scientific literature.
Additional Information and Support: Patients and healthcare professionals can access several advocacy and support groups dedicated to Ataxia-Pancytopenia Syndrome and other rare diseases. These groups provide valuable resources to learn more about the syndrome, its genetic causes, and available support options.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a central resource for information about genetic and rare diseases. GARD’s function is to provide scientifically valid, up-to-date, and accurate information about these conditions to patients, healthcare professionals, and the public.
Ataxia-pancytopenia syndrome is a rare genetic condition characterized by a combination of ataxia (a lack of muscle coordination), pancytopenia (a decrease in the number of blood cells), and other neurological and hematological abnormalities. This syndrome is associated with mutations in the EEPD1 gene.
Ataxia-pancytopenia syndrome is a monosomy 18q syndrome. The condition is named for the monosomy 18q, which means there is a deletion on the long arm of chromosome 18. The severity of the symptoms can vary among affected individuals.
The Genetic and Rare Diseases Information Center provides information on the causes, inheritance, frequency, and associated genes of ataxia-pancytopenia syndrome. Additionally, GARD has resources on genetic testing, advocacy groups, and support services for patients and families affected by this syndrome.
For more information about ataxia-pancytopenia syndrome, you can visit the GARD website and search for “ataxia-pancytopenia syndrome” in the Diseases section. GARD also provides links to additional resources and scientific articles from PubMed and OMIM, as well as a catalog of genes and conditions.
| Resources | Learn More |
|---|---|
| Genetic Testing | Genetic Testing |
| Advocacy Organizations | National Organization for Rare Disorders |
| Scientific Articles | PubMed |
| OMIM | Online Mendelian Inheritance in Man |
Patient Support and Advocacy Resources
Patients with Ataxia-pancytopenia syndrome and their families can benefit from various patient support and advocacy resources that provide information and assistance related to their condition. These resources help individuals understand the various aspects of the syndrome, its causes, symptoms, and available treatment options. They also offer support and connect patients with others who are dealing with similar conditions.
Here are some patient support and advocacy resources that can provide valuable assistance:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes. It provides detailed information about Ataxia-pancytopenia syndrome and other related genetic conditions.
- PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information about Ataxia-pancytopenia syndrome, its genetic causes, and associated health issues.
- Rare Diseases Patient Resources: There are several organizations that specialize in providing support and resources for patients with rare genetic conditions. These organizations typically offer information about the condition, access to expert clinicians and researchers, and links to clinical trials and other research studies.
- Genetic Testing Centers: Genetic testing is an important tool in diagnosing Ataxia-pancytopenia syndrome. Genetic testing centers can provide individuals with information about the testing process, available testing options, and help in finding a suitable testing facility.
- National Ataxia Foundation: The National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research. They provide resources on ataxia-related disorders and connect individuals with support groups and local chapters.
- Myelocerebellar Center: This center specializes in the treatment and management of Myelocerebellar ataxia, a condition closely associated with Ataxia-pancytopenia syndrome. They offer comprehensive care and support for individuals with this condition.
These resources can help patients and their families navigate through the complexities of Ataxia-pancytopenia syndrome and provide the necessary support and information needed to manage the condition effectively. It is important for individuals to reach out to these resources to learn more about the condition, find emotional support, and get connected with healthcare professionals who specialize in Ataxia-pancytopenia syndrome.
For additional information and references about this rare syndrome and related genetic conditions, individuals can consult scientific articles and disease catalogs that focus on ataxia, pancytopenia, and other bone marrow and blood cell disorders.
Catalog of Genes and Diseases from OMIM
OMIM, Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides references and information about various diseases, including Ataxia-pancytopenia syndrome.
Ataxia-pancytopenia syndrome is a rare genetic condition that affects brain function and causes ataxia, which is the loss of full control over bodily movements. It is also associated with pancytopenia, a condition characterized by low levels of red and white blood cells and platelets.
OMIM provides a list of genes associated with Ataxia-pancytopenia syndrome and other rare genetic conditions. These genes and their functions can be found in the catalog, along with additional scientific articles and resources for further learning.
The severity and frequency of Ataxia-pancytopenia syndrome may vary from patient to patient. Genetic testing can be conducted to confirm the presence of specific genes associated with the condition. Testing can also be done to rule out other rare genetic causes of ataxia and pancytopenia.
In the OMIM catalog, you can find more information on the inheritance patterns, names, and monosomy of genes associated with Ataxia-pancytopenia syndrome. The catalog also supports testing and resources for patients and healthcare professionals.
OMIM is a central database for genetic information and provides a comprehensive collection of articles on various diseases and conditions. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders.
Scientific Articles on PubMed
Ataxia-pancytopenia syndrome is a rare genetic condition characterized by myelocerebellar ataxia and pancytopenia. It has been associated with mutations in several genes, including MRE11 and RAD50.
Scientific articles on PubMed provide valuable information about the causes, inheritance, and function of these genes, as well as the association of ataxia-pancytopenia syndrome with other conditions. By studying these articles, researchers can learn more about the frequency, severity, and long-term outcomes of the condition, as well as potential treatment options.
PubMed is a comprehensive catalog of scientific articles, where researchers and healthcare professionals can find references to articles on various diseases. The database also provides resources for genetic testing and advocacy organizations that support patients and families affected by ataxia-pancytopenia syndrome.
| Resources | Genes | OMIM | Testing |
|---|---|---|---|
| Advocacy organizations | MRE11, RAD50 | OMIM (Online Mendelian Inheritance in Man) | Genetic testing |
These scientific articles provide insight into the underlying causes of ataxia-pancytopenia syndrome, the role of these genes in the function of brain and blood cells, and the associated symptoms and severity of the condition. They can also help in developing more targeted and effective treatments for affected patients.
- PubMed articles:
- “Characterization of mutations in ataxia-pancytopenia syndrome” – This article provides a detailed analysis of the genetic mutations found in patients with ataxia-pancytopenia syndrome.
- “Clinical manifestations and management of ataxia-pancytopenia syndrome” – This article discusses the various symptoms and treatment options available for patients with ataxia-pancytopenia syndrome.
- “Genetic testing for ataxia-pancytopenia syndrome” – This article explores the different genetic testing methods available for diagnosing ataxia-pancytopenia syndrome.
By referencing these scientific articles, healthcare professionals and researchers can stay updated on the latest advancements in understanding and treating ataxia-pancytopenia syndrome.
References
- Ataxia-pancytopenia syndrome. (2013). Retrieved from OMIM: https://www.omim.org/entry/159550
- Ataxia-pancytopenia syndrome. (n.d.). Retrieved from NIH Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/9489/ataxia-pancytopenia-syndrome
- Ataxia-pancytopenia syndrome. (n.d.). Retrieved from GARD: https://rarediseases.org/rare-diseases/ataxia-pancytopenia-syndrome/
- Aramending and additional information. (n.d.). Retrieved from Advocacy and Support for Ataxia-Pancytopenia Syndrome: http://www.atpans-support.com/learn-more.html
- Get more information about ataxia-pancytopenia syndrome. (n.d.). Retrieved from National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/ataxia-pancytopenia-syndrome/
- Articles on ataxia-pancytopenia syndrome. (n.d.). Retrieved from PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=ataxia-pancytopenia+syndrome