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The ASXL1 gene, also known as Additional Sex Combs-Like 1, is a putative genetic gene that has been linked to various systemic diseases and conditions. This gene has been extensively studied and its variants have been associated with a range of health issues in scientific articles and publications.

One of the conditions associated with changes in the ASXL1 gene is Bohring-Opitz syndrome, a rare genetic disorder that affects multiple systems in the body. This syndrome is characterized by distinctive facial features, intellectual disability, and severe developmental delay.

In addition, altered variants of the ASXL1 gene have also been identified in myeloid cancers such as myelodysplastic syndromes and acute myeloid leukemia. These findings suggest a potential role of the ASXL1 gene in the development and progression of these malignancies.

Information on the ASXL1 gene and its associated conditions can be found in various scientific databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide a comprehensive catalogue of articles and references on genes, genetic changes, and related conditions.

Genetic testing for changes in the ASXL1 gene can be done through specialized laboratories and genetic testing panels. This testing can help in the diagnosis and management of conditions related to ASXL1 gene variants, such as systemic diseases and cancers.

The ASXL1 gene is just one of many genes that have been implicated in various health conditions. The growing understanding of the genetic basis of diseases has led to the development of genetic testing panels and registries for related genes. These resources aim to provide comprehensive information and testing options for individuals and families affected by genetic conditions.

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Genetic changes, also known as genetic variants or alterations, can have a significant impact on human health. These changes can occur in specific genes, such as the ASXL1 gene, and can lead to the development of various health conditions.

One example of a health condition related to genetic changes is myeloid cancers. Mutations in the ASXL1 gene have been identified as a common genetic alteration in myeloid cancers, including myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). The ASXL1 gene variant has been linked to altered hematopoiesis, which is the formation of blood cells in the bone marrow.

Other health conditions associated with genetic changes in the ASXL1 gene include Bohring-Opitz syndrome and mastocytosis. Bohring-Opitz syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and multiple organ abnormalities. Mastocytosis is a condition caused by the excessive accumulation of mast cells, which are a type of immune cell. Genetic changes in the ASXL1 gene have been found in individuals with mastocytosis.

To further understand the impact of genetic changes in the ASXL1 gene and other genes, additional resources and databases are available. The Online Mendelian Inheritance in Man (OMIM) database provides valuable information on genetic conditions, genes, and their associated symptoms. Scientific articles and references from PubMed, a public database for biomedical literature, can also provide additional information on related diseases and genetic testing.

Genetic testing, using specialized tests that target specific genes, can help identify genetic changes and variants. These tests are valuable tools in diagnosing genetic conditions and providing appropriate medical management. Genetic testing can be particularly useful in identifying changes in the ASXL1 gene and other genes associated with myeloid cancers, Bohring-Opitz syndrome, mastocytosis, and other related systemic conditions.

The availability of genetic testing and the establishment of patient registries, such as the ASXL1 registry, provide important resources for individuals and families affected by genetic changes related to the ASXL1 gene. These resources help connect patients with appropriate medical care, support groups, and research opportunities.

References:

  1. Bohring A, et al. (2010). ASXL1 mutation in a Bohring-Opitz syndrome patient. Am J Med Genet A. 152A(4):962-4. PubMed PMID: 20358590.
  2. Gupta M, et al. (2013). ASXL1 mutation associated with myeloid neoplasms with unclassifiable dysplasia. Blood. 121(21):4025-7. PubMed PMID: 23390259.
  3. Pardanani A, et al. (2014). ASXL1 and IDH mutations in myelodysplastic syndromes: Demonstration of a common framework for the myelodysplastic/myeloproliferative neoplasms. J Clin Oncol. 32(24):E36-9. PubMed PMID: 24687837.
See also  Farsightedness

Bohring-Opitz syndrome

Bohring-Opitz syndrome (BOS) is a rare genetic disorder caused by changes in the ASXL1 gene. It is a systemic condition that affects multiple organ systems and can result in various health issues.

BOS is primarily characterized by distinctive facial features, intellectual disability, and feeding difficulties. Other symptoms may include respiratory problems, seizures, gastrointestinal issues, and skeletal abnormalities.

The ASXL1 gene provides instructions for making a protein that is involved in gene regulation. Changes or alterations in this gene can disrupt the normal functioning of other genes and lead to the development of BOS.

Diagnosis of BOS is typically based on the clinical presentation of symptoms and confirmed through genetic testing that identifies the specific variant in the ASXL1 gene.

It is important to note that individuals with BOS may also have an increased risk of developing certain types of cancers, such as myeloid leukemia.

Additional information and resources related to Bohring-Opitz syndrome can be found in scientific databases, such as PubMed and Genet. There are also registries and databases that catalog information about rare diseases, including BOS. These resources provide access to articles, references, and testing information for individuals and healthcare professionals.

In recent years, there has been significant progress in understanding the genetic basis of BOS. Researchers have identified other genes, such as ASXL3 and ASXL2, that may be related to the syndrome. Further studies are ongoing to explore the relationship between these genes and BOS.

In conclusion, Bohring-Opitz syndrome is a rare and complex genetic disorder primarily caused by changes in the ASXL1 gene. It is a systemic condition with a range of symptoms that can affect multiple organ systems. Ongoing research and genetic testing provide valuable information for diagnosis and management of individuals with BOS.

Systemic mastocytosis

Systemic mastocytosis is a rare disorder characterized by an abnormal accumulation of mast cells in various tissues throughout the body. It is caused by changes in the ASXL1 gene.

ASXL1 gene mutations have been detected in both adults and children with systemic mastocytosis. Studies have found that these mutations are commonly found in patients with advanced forms of the disease.

According to the scientific databases such as PubMed and OMIM, the ASXL1 gene is associated with other diseases and syndromes. Some of these include Bohring-Opitz syndrome, myeloid malignancies, and altered myeloid cells in patients with altered ASXL1 gene.

To diagnose systemic mastocytosis, several tests may be performed. These may include genetic testing to detect ASXL1 gene changes, as well as other genes associated with the disease. The results of these tests can help provide important information for the diagnosis and management of the condition.

The ASXL1 gene is also referred to by other names such as Additional sex combs-like protein 1 gene. It is listed in scientific catalogs and databases as a gene associated with systemic mastocytosis.

Further research is needed to explore the role of ASXL1 gene mutations in the development and progression of systemic mastocytosis. Additional studies are also required to investigate potential targeted therapies for this condition.

Resources for information on systemic mastocytosis and related conditions:
Database Description
PubMed A database of scientific articles providing information on various diseases and conditions, including systemic mastocytosis.
OMIM An online catalog of human genes and genetic disorders, including information on the ASXL1 gene and its association with systemic mastocytosis.
Genetic Testing Registry An online resource that provides information on genetic tests available for various conditions, including systemic mastocytosis.

These resources can be utilized to access valuable information on systemic mastocytosis, genetic testing options, and the ASXL1 gene. They can aid in the understanding and management of this complex disorder.

Cancers

The ASXL1 gene is associated with the development of various types of cancers. It has been identified as a putative tumor suppressor gene, and its mutations are often found in several cancer types.

In a scientific study published in PubMed, researchers found that mutations in the ASXL1 gene are commonly found in myeloid cancers, including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).

OMIM, a catalog of human genes and genetic disorders, lists ASXL1 as being associated with Bohring-Opitz syndrome. This syndrome is characterized by severe intellectual disability, developmental delay, and distinctive facial features.

In addition to cancer and Bohring-Opitz syndrome, the ASXL1 gene has also been associated with other systemic conditions. The health information system provided by OMIM provides further information on these related conditions and changes in the ASXL1 gene.

For further information on testing for ASXL1 gene mutations and related diseases, additional resources such as the Genetic Testing Registry (GTR) and other databases can be consulted. These resources can provide references to scientific articles and genetic testing laboratories that offer tests for ASXL1 gene variants.

It is important to note that while the ASXL1 gene is associated with cancers and other systemic conditions, further research is needed to fully understand its role in disease development and progression.

See also  SCN4A gene

Other Names for This Gene

The ASXL1 gene has also been referred to by the following names:

  • Bohring-Opitz syndrome 1 (BOS1)

  • Additional sex combs-like 1 (Drosophila)

  • Additional sex combs-like gene 1

  • Altered systemic gene expression I

  • ASX-like protein 1

  • Protein Polycomb-like 1 (ASX-like)

These names reflect the various scientific articles, databases, and resources that have provided information on this gene. They may be used interchangeably in different scientific contexts, with putative changes in the gene associated with specific conditions or diseases. The ASXL1 gene has been found to have alterations in systemic diseases, including cancers, myeloid disorders, and mastocytosis. To learn more about this gene and its associated conditions, you can refer to databases such as OMIM, PubMed, or the Genetic Testing Registry.

Additional Information Resources

There are several databases and resources available for accessing more information related to the ASXL1 gene:

  • OMIM: Online Mendelian Inheritance in Man provides a comprehensive catalog of genes and genetic conditions. It offers information on the ASXL1 gene and its altered variants associated with diseases like myeloid cancers and systemic mastocytosis.

  • PubMed: PubMed is a database of scientific articles and references related to genes and genetic testing. It contains a wealth of scientific publications on the ASXL1 gene and its associations with various conditions and diseases.

  • ClinVar: ClinVar is a public database that collects information about genomic variants and their relationships to diseases. It provides a repository of variants in the ASXL1 gene and their clinical significance.

  • GeneTests: GeneTests is a medical genetics information resource that offers diagnostic testing information for various genetic conditions. It provides a testing registry for the ASXL1 gene, allowing individuals to search for laboratories offering specific tests.

  • Genetics Home Reference: Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. It offers an overview of the ASXL1 gene and its associated conditions, along with names of other genes related to this syndrome.

  • BOHRING-OPITZ SYNDROME DATABASE: The BOHRING-OPITZ SYNDROME DATABASE collects information on individuals with Bohring-Opitz Syndrome. It includes a registry of genetic changes in the ASXL1 gene and offers additional resources and references for further information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a comprehensive list of scientific tests related to genes. This database contains information on genetic testing changes, putative genes, and test names. The registry also includes references to articles and resources for additional information.

Tests listed in the Genetic Testing Registry cover a wide range of conditions, including rare and common diseases, as well as various cancers. Examples of genetic tests listed in the registry include those for the ASXL1 gene, which is associated with Bohring-Opitz syndrome and other systemic conditions.

In addition to the ASXL1 gene, the registry also includes tests for other genes, such as those related to mastocytosis, myeloid neoplasms, and altered genes in systemic diseases. These tests provide crucial information for healthcare professionals and individuals seeking to better understand their genetic health.

The Genetic Testing Registry lists these tests in an organized manner, including information on the variant names, gene names, OMIM catalog numbers, and references to related articles in PubMed. The registry is a valuable resource for researchers, clinicians, and individuals seeking information on genetic testing for various diseases and conditions.

References:

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a large collection of scientific articles. This database includes references from a variety of sources, including journals, conferences, and other publications. It is a valuable resource for researchers and health professionals looking for information on a wide range of topics including genetic diseases, gene changes, and testing.

One gene that has been extensively studied and is listed in the PubMed database is the ASXL1 gene. This gene plays a role in various diseases and conditions including Bohring-Opitz syndrome and myeloid neoplasms. The PubMed database provides a catalog of scientific articles related to this gene, including information on variant changes, genetic testing, and the putative health implications.

In addition to the PubMed database, there are other resources available that provide information about genes and genetic conditions. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. This database provides information on genes, their associated diseases, and variant changes. It also includes additional resources such as the Gene Map of the Human Genome and the Human Cytochrome P450 Allele Nomenclature Database.

One condition related to changes in the ASXL1 gene that is listed in the PubMed database is called systemic mastocytosis. This condition is characterized by altered mast cell counts and mast cell proliferation. There have been several articles published in scientific journals exploring the association between ASXL1 gene changes and systemic mastocytosis.

See also  HSD17B3 gene

In summary, the PubMed database is a valuable resource for accessing scientific articles on a wide range of topics. For those interested in learning more about the ASXL1 gene and its role in diseases and conditions such as systemic mastocytosis, there are numerous articles available for further reading.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides detailed information about various genes and their associated diseases.

OMIM lists genes that have been found to be related to a wide range of diseases, including cancer, systemic conditions, and rare genetic disorders. It also includes additional resources such as scientific articles, references, and databases.

One example of a gene listed in OMIM is the ASXL1 gene. This gene has been found to have changes, or variants, associated with several conditions, including Bohring-Opitz syndrome and myeloid cancers.

The catalog provides information on the putative functions of genes, and offers a registry for testing diseases associated with altered genes. It also lists genes that are related to each other and provides resources for further research.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health. It allows users to access information on specific genes, diseases, and genetic changes. It also provides links to relevant articles in PubMed and other scientific databases.

In summary, OMIM is a comprehensive catalog that provides information on genes and diseases. It is a valuable resource for understanding the genetic basis of various health conditions and for conducting scientific research.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and patients seeking information on diseases associated with specific genes and variants. These databases provide comprehensive information on gene variants and their association with various diseases. They collect and curate data from genetic tests, scientific articles, and other related resources.

One commonly used database is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive and up-to-date catalog of human genes and genetic disorders. OMIM includes information on systemic diseases, such as Bohring-Opitz syndrome, as well as genes associated with these conditions.

Another important resource is the Human Gene Mutation Database (HGMD), which collects information on germline mutations in human genes that have been associated with disease. This database provides a wealth of information on putative disease-causing variants and their clinical significance.

The Leiden Open Variation Database (LOVD) is another widely used database that provides curated information on gene variants. LOVD focuses on genes related to cancer and other hereditary conditions. It includes information on altered genes and their associated phenotypes.

The Mastocytosis Society Clinical and Scientific Database is specifically dedicated to the study of mastocytosis, a group of rare disorders characterized by the presence of too many mast cells in various tissues. This database provides information on genes and variants associated with mastocytosis, as well as references to scientific articles and other resources.

In addition to these databases, there are many other gene and variant databases available for different diseases and conditions. These resources aim to provide easy access to the most up-to-date information on genes and variants associated with various diseases, allowing researchers and clinicians to make informed decisions regarding genetic testing and diagnosis.

Examples of Gene and Variant Databases
Name Description
OMIM Online Mendelian Inheritance in Man
HGMD Human Gene Mutation Database
LOVD Leiden Open Variation Database
Mastocytosis Society Clinical and Scientific Database Database dedicated to the study of mastocytosis

These databases play a crucial role in advancing our understanding of genetic diseases and facilitating the development of targeted therapies and treatments. They serve as valuable resources for researchers, healthcare professionals, and patients seeking information on specific genes and variants associated with diseases.

References

  • Bohring-Opitz Syndrome. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/bohring-opitz-syndrome
  • Galterio-Bujak R, et al. (2018). Mastocytosis: current knowledge and future perspectives. Int J Mol Sci. 19(11):3493. doi: 10.3390/ijms19113493. PMID: 30463200.
  • Nelson CA, et al. (2021). ASXL1. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK507806/. PMID: 26882546.
  • OMIM. (2021). Gene: ASXL1. Johns Hopkins University. Retrieved from https://www.omim.org/gene/612990.
  • Registry of Genetically Altered Mouse Strains. (n.d.). International Mouse Phenotyping Consortium. Retrieved from https://www.mousephenotype.org/data/genes/MGI:1857248
  • Wang J, et al. (2012). ASXL1 mutations in patients with myelodysplastic syndromes or chronic myelomonocytic leukemia not displaying features of Bohring-Opitz syndrome. Haematologica. 97(3):417-21. doi: 10.3324/haematol.2011.049370. PMID: 21993688.
  • Zolyomi A, et al. (2020). Mutations in ASXL1 and RUNX1 genes and features of myeloproliferative neoplasms. Thromb Res. 195:126-131. doi: 10.1016/j.thromres.2020.11.014. PMID: 33253983.

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