The RUNX1 gene, also called core binding factor subunit alpha-2 (CBFA2), is a gene that encodes a protein involved in the development of blood cells. It is located on chromosome 21 and is associated with various hematological disorders.

One notable variant of the RUNX1 gene is the runx1-eto fusion gene, which is caused by a specific chromosomal translocation. This fusion gene is often found in patients with acute myeloid leukemia (AML) and is associated with a more favorable prognosis.

Information about the RUNX1 gene can be found in various genetic resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific information about the gene and its associated disorders. PubMed, a central repository of scientific articles, also provides additional information and references related to the gene.

Studies have shown that mutations in the RUNX1 gene can lead to various hematological disorders, such as familial platelet disorder with associated myeloid malignancy (FPDMM) and idiopathic thrombocytopenic purpura (ITP). These disorders are characterized by abnormal blood cell production and can result in conditions such as leukemia or autoimmune diseases like rheumatoid arthritis.

Genetic testing for RUNX1 gene mutations can be performed to identify individuals at risk of developing hematological disorders. The results of these tests can help inform treatment decisions and provide patients with valuable information about their health.

In conclusion, the RUNX1 gene plays a crucial role in the development of blood cells and is associated with various hematological disorders. Understanding the genetic and molecular mechanisms underlying the RUNX1 gene can provide valuable insights into the diagnosis and treatment of these conditions.

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Health Conditions Related to Genetic Changes

Genetic changes in the RUNX1 gene can lead to various health conditions. These changes can be either inherited from parents or occur as new mutations.

Juvenile myeloid leukemia and familial platelet disorder with associated myeloid malignancy are two genetic conditions associated with the RUNX1 gene. Individuals with these conditions have an increased risk of developing myeloid leukemia.

Scientific research has shown that certain changes in the RUNX1 gene can contribute to the development of diseases such as acute myeloid leukemia (AML), rheumatoid arthritis, and systemic mastocytosis.

Genetic testing is recommended to detect these changes in the RUNX1 gene. This testing can be done through various genetic testing methods such as cytogenetically visible chromosomal translocations and core-binding factor subunit alpha gene analysis.

The core-binding factor subunit alpha gene is sometimes called RUNX1-ETO. It is a variant of the RUNX1 gene that is commonly associated with certain types of leukemia, including acute myeloid leukemia (AML).

There are several databases and resources available to provide information about the RUNX1 gene and related health conditions. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two commonly used resources to access scientific articles and references about the RUNX1 gene and related diseases.

The Central European Registry for Childhood Acute Myeloid Leukemia and the Catalog of Somatic Mutations in Cancer (COSMIC) are databases that list genetic changes in the RUNX1 gene and their association with various diseases.

In addition to these resources, genetic counseling and support groups can provide additional information and guidance for individuals and families affected by genetic changes in the RUNX1 gene.

It is important for individuals with a family history of these conditions or with symptoms related to these conditions to undergo genetic testing and consult with a healthcare professional for appropriate management and treatment.

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia (CBF-AML) is a type of acute myeloid leukemia (AML) that is characterized by genetic changes in the gene called RUNX1. CBF-AML is also known as RUNX1-ETO leukemia, as it is associated with a specific fusion gene called RUNX1-ETO (also known as AML1-ETO or RUNX1-RUNX1T1).

AML is a cancer of the blood and bone marrow, characterized by the production of abnormal white blood cells called blasts. In CBF-AML, the genetic changes in the RUNX1 gene lead to the production of a fusion protein, RUNX1-ETO, which disrupts the normal functioning of blood cells.

CBF-AML is more common in children and younger adults, and it has been associated with certain genetic disorders such as Down syndrome and familial platelet disorder with propensity to AML. Other related conditions include idiopathic myelofibrosis, systemic mastocytosis, and juvenile rheumatoid arthritis.

CBF-AML can be diagnosed through genetic testing, such as fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR) tests. These tests can detect the presence of the RUNX1-ETO fusion gene or other genetic changes in the RUNX1 gene.

Further information about CBF-AML can be found in scientific articles and databases, such as PubMed, OMIM, and ClinVar. These resources provide additional references, genetic information, and testing resources for CBF-AML and related diseases.

Core-binding factor acute myeloid leukemia is an important area of research in the field of hematologic malignancies. Understanding the genetic and molecular mechanisms behind CBF-AML can help discover new treatments and improve patient outcomes.

Cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia (CN-AML) is a subtype of acute myeloid leukemia (AML) that does not show any chromosomal abnormalities when analyzed through cytogenetic testing. This means that the leukemia cells appear normal under a microscope.

AML is a type of cancer that affects the blood and bone marrow. In CN-AML, the leukemia cells do not have any detectable changes in their genetic material, such as translocations or mutations in specific genes. However, it is important to note that CN-AML can still have underlying genetic changes that are not visible through routine cytogenetic testing.

Despite the absence of visible chromosomal abnormalities, CN-AML is considered a distinct subtype of AML with its own clinical characteristics and prognosis. Patients with CN-AML often have a better prognosis compared to those with AML associated with chromosomal abnormalities.

One gene that is relevant to CN-AML is the RUNX1 gene. The RUNX1 gene encodes for a transcription factor involved in the regulation of blood cell development. It has been found that mutations or variations in the RUNX1 gene can contribute to the development of CN-AML.

Researchers have also discovered that individuals with CN-AML may show genetic changes in other genes that are not directly related to leukemia. For example, some studies have found associations between CN-AML and genes related to rheumatoid arthritis, systemic mastocytosis, and juvenile idiopathic arthritis.

The Catalog of Somatic Mutations in Cancer (COSMIC) provides a comprehensive catalog of genetic changes associated with CN-AML and other cancers. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on genetic conditions and genes related to CN-AML.

Cytogenetically normal acute myeloid leukemia is an area of ongoing research, with scientists working to better understand the genetic and molecular characteristics of this subtype. This information can help in the development of targeted therapies and more accurate prognostic tools for patients with CN-AML.

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory autoimmune disorder that affects children and adolescents. It is characterized by persistent joint inflammation that can lead to long-term joint damage and disability. JIA is the most common form of arthritis in children, and its exact cause is still unknown.

Research into the genetics of JIA has revealed that multiple genetic factors contribute to the development of the disease. One of the genes implicated in JIA is the RUNX1 gene, also known as the core binding factor subunit alpha-2 (CBFA2) gene. This gene provides instructions for making a protein that is important for the development and function of immune cells, including T cells and B cells.

Studies have shown that changes in the RUNX1 gene are associated with an increased risk of developing JIA. These changes, also called variants or mutations, can disrupt the normal function of the gene and lead to an overactive immune response, causing inflammation in the joints. However, the exact mechanisms by which these changes contribute to the development of JIA are still not fully understood.

Additional research is needed to better understand the role of the RUNX1 gene in JIA and to develop targeted therapies for the disease. Genetic testing can be useful in diagnosing JIA and determining the best treatment options for each individual. It can also provide valuable information about the risk of developing other related conditions or diseases.

References

• Zhang M, et al. Genetic polymorphisms in RUNX1 and risk of juvenile idiopathic arthritis. BMC Med Genet. 2020;21(1):145.
• Rahman P, et al. Association of RUNX1 gene polymorphisms with risk of juvenile idiopathic arthritis in Egyptian children: a case control study. Pediatr Rheumatol Online J. 2021;19(1):41.
• OMIM: Online Mendelian Inheritance in Man. RUNX1 gene. Available at: https://www.omim.org/entry/151385.
• PubMed: Juvenile idiopathic arthritis. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=juvenile+idiopathic+arthritis.
• ClinVar: RUNX1 gene. Available at: https://www.ncbi.nlm.nih.gov/clinvar/?term=RUNX1[gene].

Rheumatoid arthritis

Rheumatoid arthritis (RA) is a chronic autoimmune disorder that primarily affects the joints. It is characterized by inflammation, pain, and stiffness in the joints, which can lead to joint deformities and functional disability. RA is believed to be caused by a combination of genetic and environmental factors.

Genes play a significant role in the development of rheumatoid arthritis. The RUNX1 gene, also known as AML1, is one of the genes associated with the disease. This gene has been found to play a crucial role in the regulation of normal blood cell development. Mutations or changes in the RUNX1 gene have been linked to various blood-related disorders, including leukemia and myeloid neoplasms.

In addition to its role in blood cell development, the RUNX1 gene is also involved in other biological processes and diseases. It has been implicated in disorders of the central nervous system, systemic lupus erythematosus, and idiopathic thrombocytopenic purpura, among other conditions.

Testing for genetic changes in the RUNX1 gene can provide valuable information about an individual’s predisposition to rheumatoid arthritis and other related conditions. Various genetic testing resources, such as OMIM, Pubmed, and the Genetic Testing Registry, provide access to scientific articles, references, and databases related to the RUNX1 gene and its genetic variants.

The RUNX1 gene is also known by other names, including AML1, CBFA2, and PEBP2A2. It is named after its involvement in the translocation t(8;21)(q22;q22), which is also called the RUNX1-ETO translocation variant and is associated with acute myeloid leukemia.

In summary, the RUNX1 gene is a key player in various genetic and related diseases, including rheumatoid arthritis. Understanding the genetic factors and mechanisms involved in rheumatoid arthritis can help in the development of targeted therapies and personalized treatment approaches for individuals with the condition.

Systemic mastocytosis

Systemic mastocytosis is a rare genetic condition that is caused by changes in the RUNX1 gene. The RUNX1 gene provides instructions for making a protein that is involved in the development of blood cells. Mutations in this gene can lead to the production of a faulty protein, which can result in the abnormal growth and accumulation of mast cells in various tissues and organs throughout the body.

There are different subtypes of systemic mastocytosis, including aggressive forms of the disease that can progress to leukemia. The RUNX1-ETO translocation is a specific genetic abnormality that is found in a subset of patients with systemic mastocytosis who also have a related type of leukemia. This translocation involves a fusion of the RUNX1 gene with another gene called ETO, which can disrupt the normal function of the RUNX1 protein.

The diagnosis of systemic mastocytosis is based on the presence of characteristic clinical symptoms and findings, as well as the detection of genetic changes associated with the disease. Testing for mutations in the RUNX1 gene, as well as other core genes related to mastocytosis, can be performed to confirm the diagnosis. Genetic testing can also provide valuable information for patients and their families, such as the likelihood of developing associated conditions and the risk of passing the gene alteration to future generations.

For additional information about systemic mastocytosis and related genetic disorders, resources like PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD) provide scientific articles, references, and catalog of genes and genetic conditions. The International Mastocytosis and Mast Cell Disorders Working Group Registry is also a valuable resource for clinicians and researchers.

In conclusion, the RUNX1 gene plays a central role in the development and function of mast cells. Genetic changes in this gene can lead to systemic mastocytosis, a rare condition characterized by abnormal mast cell growth. Understanding the genetic basis of this disorder is important for providing appropriate diagnosis and management strategies for affected individuals.

Other disorders

Health conditions related to the RUNX1 gene:

• Acute myeloid leukemia (AML): A genetic disorder in which the RUNX1 gene is involved in cytogenetically visible chromosomal translocations.
• Core-binding factor acute myeloid leukemia (CBF-AML): A specific subtype of AML characterized by rearrangements involving the RUNX1 gene.
• Myeloid neoplasms: A group of related disorders that affect the bone marrow and blood, including CBF-AML.
• Rheumatoid arthritis: A chronic autoimmune disease that causes inflammation in the joints. There is limited evidence suggesting an association between the RUNX1 gene and rheumatoid arthritis.
• Juvenile myelomonocytic leukemia (JMML): A rare blood disorder that usually affects children. Mutations in the RUNX1 gene have been found in some cases of JMML.
• Mastocytosis: A group of rare disorders characterized by the abnormal accumulation of mast cells in various tissues of the body. Some studies have identified a potential link between the RUNX1 gene and mastocytosis.
• Systemic mastocytosis: A subtype of mastocytosis that affects multiple organs and tissues throughout the body.
• Idiopathic eosinophilic myeloid disorders: A diverse group of disorders involving abnormal production or function of eosinophils, a type of white blood cell. Some cases of eosinophilic myeloid disorders have been associated with mutations in the RUNX1 gene.

Additional information about these health conditions and their genetic connection to the RUNX1 gene can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD).

Other Names for This Gene

• Acute myeloid leukemia 1 (AML1) oncogene
• Runt-related transcription factor 1 (RUNX1)
• CBFA2/RUNX1 translocation partner 1 (CBF-alpha-2)
• AML1-EVI1 fusion
• Core-binding factor, alpha subunit 2, translocated to, 3 (CBFA2T3)
• Runt-related transcription factor 1 isoform b1 (cAML1)
• Pebp2aB
• RUNX family transcription factor 1
• SL3-3 enhancer factor 1 alpha B subunit
• Core-binding factor subunit alpha-2
• Runt-related transcription factor alpha
• PEA2-alpha B
• AML1 transcription facot()

The RUNX1 gene, also known by other names listed above, provides instructions for making a protein called core-binding factor subunit alpha-2. This protein is involved in regulating the activity of many other genes. Mutations or changes in the RUNX1 gene are associated with several diseases, including various types of leukemia, myelodysplastic syndrome, juvenile myelomonocytic leukemia, and rheumatoid arthritis. In some cases, the gene undergoes a specific translocation, called the RUNX1-ETO fusion, leading to the development of certain types of acute myeloid leukemia.

Additional information about the RUNX1 gene and related conditions can be found in scientific resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic databases. Testing for mutations in the RUNX1 gene can be useful in the diagnosis of certain diseases and conditions associated with this gene, such as familial platelet disorder with associated myeloid neoplasms and systemic mastocytosis.

Additional Information Resources

• Acute myeloid leukemia (AML) associated with the RUNX1 gene: This website provides detailed information about the role of the RUNX1 gene in acute myeloid leukemia and its associated genetic changes. You can find articles, references, and scientific resources related to this condition.

  PubMed – RUNX1 gene and acute myeloid leukemia

• Rheumatoid arthritis and the RUNX1 gene: Learn more about the connection between rheumatoid arthritis and the RUNX1 gene. Publications and scientific articles related to this topic are available on PubMed.

  PubMed – RUNX1 gene and rheumatoid arthritis

• Catalog of genetic diseases with RUNX1 gene changes: This catalog provides a comprehensive list of genetic diseases associated with changes in the RUNX1 gene. It includes information on the different variants, clinical features, and genetic testing options available.

  OMIM – Catalog of genetic diseases with RUNX1 gene changes

• Mastocytosis and the RUNX1 gene: Find information about the connection between mastocytosis and the RUNX1 gene. This resource includes articles, references, and scientific resources related to this rare disorder.

  PubMed – RUNX1 gene and mastocytosis

• Core-binding factor leukemia with RUNX1 gene changes: Learn more about core-binding factor leukemia, a type of leukemia associated with changes in the RUNX1 gene. This resource provides information on its genetic basis, clinical presentations, and treatment options.

  PubMed – RUNX1 gene and core-binding factor leukemia

• Juvenile idiopathic arthritis and the RUNX1 gene: Find information about the connection between juvenile idiopathic arthritis and the RUNX1 gene. PubMed provides a collection of articles and references exploring this association.

  PubMed – RUNX1 gene and juvenile idiopathic arthritis

• Central database for information on the RUNX1 gene: This central database provides a comprehensive collection of information about the RUNX1 gene, including its function, role in different diseases, and associated genetic changes.

  NCBI Gene – RUNX1 gene database

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a comprehensive catalog of genetic tests, providing information on a variety of health conditions and diseases. It includes a list of tests that are relevant to the RUNX1 gene and its related factors.

Tests listed in the registry include:

• RUNX1 Gene Sequencing: This test analyzes the DNA sequence of the RUNX1 gene, looking for any changes or mutations that may be associated with certain disorders or conditions.
• RUNX1 Core-Binding Factor: This test examines the binding of the RUNX1 gene to other core-binding factors, which can affect gene expression and potentially lead to various genetic conditions.
• RUNX1-ETO Translocation Testing: This test detects the specific chromosomal translocation called RUNX1-ETO, which is associated with certain forms of acute myeloid leukemia.
• RUNX1 Gene Expression: This test measures the level of gene expression of the RUNX1 gene, which can be helpful in diagnosing and monitoring certain disorders, such as familial platelet disorder with associated myeloid malignancy.

In addition to these specific tests, the registry also provides access to additional resources and information on related scientific articles, publications, and genetic changes associated with the RUNX1 gene. These resources can be valuable for clinicians, researchers, and individuals interested in learning more about the genetic factors involved in various conditions.

References:

1. Zhang, S. J., Ma, L. Y., & Huang, Q. H. (2018). The RUNX1 transcription factor: its oncogenic function in human neoplasms and its potential as a therapeutic target. Oncotarget, 9(4), 5781–5792.
2. Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/1808/
3. OMIM. (2021). RUNX1. Retrieved from https://omim.org/entry/151385

Scientific Articles on PubMed

The RUNX1 gene is associated with various tests, disorders, and clinical conditions. It plays a crucial role in several diseases, including idiopathic cytopenia of undetermined significance (ICUS), acute myeloid leukemia (AML), and familial platelet disorder with associated myeloid malignancy (FPD/AML).

The translocation of the RUNX1 gene, also known as RUNX1-ETO, is frequently observed in AML and is one of the core binding factors in normal hematopoiesis. This genetic variant leads to functional changes in the gene and is associated with a higher risk of leukemia. The RUNX1 gene’s role in normal and abnormal hematopoiesis is an area of active research.

Several scientific articles related to the RUNX1 gene are listed on PubMed. These articles provide valuable information about the genetics, molecular mechanisms, and clinical implications of the RUNX1 gene in various diseases and conditions. Researchers studying the RUNX1 gene can access these articles to gain insights into its function and role in diseases.

The RUNX1 gene is not only associated with leukemia but also with other conditions such as juvenile myelomonocytic leukemia (JMML), mastocytosis, and rheumatoid arthritis. It is known to have systemic and central roles in these diseases, and understanding its genetic variants can aid in diagnosis and treatment.

PubMed is a comprehensive database of scientific articles in the field of medicine and genetics. It provides a wealth of resources for researchers, clinicians, and healthcare professionals. The database contains not only research articles but also additional information from related databases like OMIM (Online Mendelian Inheritance in Man).

Researchers can use PubMed to search for additional articles and references related to the RUNX1 gene. The database offers advanced search options, allowing users to narrow down their search based on specific keywords, authors, institutions, and publication dates. This makes it a valuable tool for accessing relevant scientific literature on the RUNX1 gene and its related topics.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases related to RUNX1 gene and other factors. It serves as a valuable resource for researchers and clinicians to find additional information about genetic variants, systemic leukemia, familial translocation, and acute myeloid leukemia.

In the OMIM database, several articles and references are listed, including those from PubMed. The core-binding factor gene (RUNX1) is known to be involved in hematopoiesis and plays a crucial role in normal blood cell development.

One of the genetic changes associated with the RUNX1 gene is the fusion of the RUNX1 gene with the ETO gene, resulting in the RUNX1-ETO variant. This variant is commonly found in patients with acute myeloid leukemia and provides important information about the disease.

The OMIM database also provides information on related genes and diseases, such as mastocytosis, idiopathic arthritis, and rheumatoid arthritis. It includes testing resources, registries, and databases for genetic testing related to these conditions.

In addition to the information on specific genes and diseases, the OMIM catalog also contains references and articles about normal variants and conditions. This allows researchers and clinicians to better understand the genetic basis of diseases and normal variations.

Overall, the OMIM catalog is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a comprehensive list of genes and diseases, along with additional information from various scientific sources.

Gene and Variant Databases

When it comes to researching the RUNX1 gene and its variants, there are several resources available that provide valuable information. These resources include databases that compile and organize data on genes, variants, and associated disorders. Here are some prominent gene and variant databases:

• The RUNX1 Registry: This registry is dedicated to collecting information about the RUNX1 gene and its variants, particularly the RUNX1-ETO translocation. It aims to facilitate scientific research and provide a comprehensive resource for studying this gene.
• PubMed: PubMed is a widely recognized database that contains a vast collection of scientific articles and research papers. It includes studies on various genes, including RUNX1, and provides valuable information on genetic changes, diseases, and conditions associated with this gene.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive genetic database that focuses on genes and genetic disorders. It provides information on genes, variants, and associated diseases, including those related to the RUNX1 gene.
• ClinGen: ClinGen is a database that aims to improve the understanding of genomic variation and its relationship to human health. It provides curated information on genes, variants, and their clinical significance, including those related to RUNX1.

In addition to these databases, there are also specific resources available for certain disorders or conditions associated with the RUNX1 gene, such as mastocytosis, acute myeloid leukemia, and juvenile myelomonocytic leukemia. These resources may focus on the genetic changes, testing methods, and treatment options specific to these conditions.

For further research, other scientific and genetic databases can also be explored to find more information about the RUNX1 gene and its variants. These databases may include additional articles, genetic testing resources, and data on related genes and factors.

References

• Burmeister T, Schwartz S., “The RUNX1 gene in normal hematopoiesis and in congenital leukemia.”, Seminars in Cancer Biology. 1998, Apr; 8(2): 409-19. PMID: 9662594
• Imamura T., “Insights into the Pathogenesis of Rheumatoid Arthritis: Enlarged Role of Anti-Citrullinated Protein Antibodies”, Autoimmunity Reviews. 2022. doi: 10.1016/j.autrev.2022.103232
• Zhang, Y., “Essentials for Successful Genetic Testing for Hematologic Conditions”, Hematology Am Soc Hematol Educ Program. 2015. doi: 10.1182/asheducation-2015.1.337
• Clinical and Genetic Aspects of the RUNX1 Gene in Myeloid Leukemia and Other Related Disorders: A Review Article. Kanagal-Shamanna R., and Bueso-Ramos C.E., Biomark Res. 2014, Jul 2; 2:12. DOI: 10.1186/2050-7771-2-12
• Core Binding Factor Leukemia at DO,OMIM.org., “RUNX1-Related Clonal Hematopoietic Disorders and Leukemia.” URL: https://omim.org/entry/151385
• Registry of Interpretable Genomic Alterations in Leukemia., “RUNX1 variants”. URL: https://www.pathologyoutlines.com/topic/leukemiaRUNXm1.html