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The ATRX gene is a key player in the development and maintenance of cells throughout the body. It has been linked to various genetic disorders and diseases, including intellectual disability, alpha-thalassemia, and myelodysplastic syndrome. With its crucial role in the health and functioning of cells, any changes or variants in the ATRX gene can have significant implications on an individual’s overall well-being.

Research on the ATRX gene has revealed its involvement in a wide range of conditions. One such condition is alpha-thalassemia, a group of genetic disorders that affect the production of hemoglobin, the molecule responsible for carrying oxygen in red blood cells. Mutations in the ATRX gene have been found to disrupt normal hemoglobin production and contribute to the development of alpha-thalassemia.

In addition to alpha-thalassemia, the ATRX gene has also been associated with intellectual disability. Studies have shown that mutations in the gene can impact brain development and function, leading to cognitive impairments and learning difficulties. The ATRX gene is part of a complex network of genes that regulate the growth and differentiation of neurons, and any disruptions in this network can result in intellectual disability.

Researchers have identified several other genes that interact with ATRX, forming a network of interconnected genes that collectively contribute to various genetic disorders and diseases. Some of these genes include RAD54, which is involved in DNA repair, and YANG, which plays a role in neuronal development. Understanding the interactions between these genes and the ATRX gene is crucial for unraveling the molecular mechanisms underlying these conditions and developing targeted therapies.

To gather information on the ATRX gene and its associated disorders, researchers and healthcare professionals rely on various resources such as the PubMed database, the OMIM catalog, and scientific articles. These resources provide an extensive collection of research papers, case studies, and genetic testing information. Additionally, there are several registries and databases that compile data on related tests, conditions, and references, enabling researchers and clinicians to access up-to-date information on the ATRX gene and its implications for health.

Genetic changes or mutations in the ATRX gene have been found to be associated with various health conditions and disorders. These conditions can be diagnosed through genetic testing and may include:

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  • Alpha-thalassemia: A group of blood disorders characterized by a reduced production of hemoglobin, the protein responsible for carrying oxygen in the blood. Testing for ATRX gene changes can help identify the genetic variant responsible for alpha-thalassemia.
  • Myelodysplastic syndrome (MDS): A bone marrow disorder where there is a decrease in the production of normal blood cells. Changes in the ATRX gene have been identified in some individuals with MDS.
  • Intellectual disability: A neurodevelopmental disorder characterized by limitations in intellectual functioning and adaptive behavior. Genetic changes in the ATRX gene have been associated with intellectual disability.
  • X-linked intellectual disability: A variant of intellectual disability that primarily affects males. The ATRX gene is one of the genes associated with this condition.
  • Fisher syndrome: A rare neurological disorder that can cause muscle weakness and difficulty coordinating movements. Although not directly related to the ATRX gene, Fisher syndrome can be linked to other genetic changes.

To learn more about these health conditions related to the ATRX gene, you can refer to scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the symptoms, genetic changes, and diagnostic tests available for these conditions. Additional references and testing information can be found in the catalog of gene names and the Human Gene Mutation Database (HGMD).

It is important to note that the presence of genetic changes in the ATRX gene does not necessarily mean that an individual will develop these health conditions. Genetic testing is typically recommended for individuals who exhibit symptoms or have a family history of these disorders.

Alpha thalassemia X-linked intellectual disability syndrome

Alpha thalassemia X-linked intellectual disability syndrome, also known as ATRX syndrome, is a genetic condition that affects multiple body systems. It is characterized by intellectual disability, distinctive facial features, and abnormalities of the blood.

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ATRX syndrome is caused by mutations in the ATRX gene located on the X chromosome. This gene provides instructions for making a protein that is involved in the structure and function of DNA. Mutations in the ATRX gene disrupt the normal activity of the protein, leading to the signs and symptoms of the syndrome.

Individuals with ATRX syndrome may have a range of intellectual disabilities, from mild to severe. They may also have delayed speech and language development, behavioral problems, and autism spectrum disorder. Additionally, affected individuals may have distinctive facial features, such as a large head, prominent forehead, and a broad nose.

Alpha thalassemia, a condition that affects the production of hemoglobin, is also commonly present in individuals with ATRX syndrome. The combination of alpha thalassemia and intellectual disability is sometimes referred to as alpha thalassemia intellectual disability syndrome (ATR-X).

Diagnosis of ATRX syndrome is typically based on the presence of characteristic signs and symptoms, along with genetic testing to identify mutations in the ATRX gene. Additional testing, such as blood tests and imaging studies, may be used to assess the severity of the alpha thalassemia and other related conditions.

Treatment for ATRX syndrome is focused on managing the individual symptoms and providing support for intellectual and developmental disabilities. This may include special education services, speech therapy, occupational therapy, and behavioral interventions.

More information on ATRX syndrome and related conditions can be found on various scientific resources, such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center. These databases provide access to articles, studies, and other educational materials that can further inform about the disorder and related conditions.

References:

  • “Alpha thalassemia X-linked intellectual disability syndrome.” Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/301040
  • Yang, Y., et al. (2000). “Mutations in an ATP-dependent chromatin remodeling gene, CHD7, cause the β-thalassemia/mental retardation syndrome.” The American Journal of Human Genetics, 66(4), 1136-1138.
  • Fisher, R. A., et al. (1992). “Mutations in the SNF2/Jumonji gene ATRX cause mental retardation severe myelodysplasia with a short telomere phenotype.” Nature Genetics, 2(3), 232-239.

Other disorders

The ATRX gene has been associated with several other disorders in addition to the alpha-thalassemia/mental retardation X-linked syndrome. These disorders have various names in scientific literature and databases.

  • Alpha-thalassemia intellectual disability (ATR-X) syndrome: This is a genetic disorder characterized by intellectual disability and bone dysplasia. It is caused by changes in the ATRX gene.

  • Myelodysplastic syndrome (MDS): Some published articles have listed ATRX gene changes in patients with MDS, a group of blood disorders characterized by ineffective production of blood cells in the bone marrow.

  • RAD54-related disorders: RAD54 is a gene closely related to ATRX that plays a role in DNA repair. Some studies have identified variants in the ATRX gene associated with RAD54-related disorders, which can cause a wide range of health problems.

  • Intellectual disability and other complex conditions: The ATRX gene has been linked to intellectual disability and other complex disorders, although the specific mechanisms are not fully understood.

These disorders and their associated changes in the ATRX gene are documented in medical databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Additional information and resources for testing and diagnosis can be found in these databases, as well as references to relevant articles and scientific studies.

It is important to note that the ATRX gene is not the only gene involved in these disorders, and there are other genes that have been implicated as well. The exact relationship between ATRX and these conditions is still being studied.

Other Names for This Gene

In addition to ATRX, this gene is also known by other names:

  • X-linked helicase II (XH2)
  • chromatin remodeling factor ATRX
  • transcriptional regulator ATRX

These scientific names demonstrate the various functions and characteristics of the ATRX gene.

Other related conditions and genes:

  • Alpha-thalassemia/mental retardation syndrome, X-linked (ATR-X Syndrome)
  • ATRX gene variant
  • Genes associated with myelodysplastic syndrome
  • Genes associated with intellectual disability
  • Genes associated with bone marrow failure

Additional resources for information and testing:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on ATR-X Syndrome and other related disorders.
  • PubMed is a comprehensive database of scientific articles, including those related to ATRX and associated conditions.
  • The ATR-X Syndrome Registry is a centralized collection of data on individuals with ATR-X Syndrome, including information on genetic testing and clinical findings.
  • The RAD54-Like 4 (RAD54L) gene is related to ATRX and may be implicated in some cases.
  • Various genetic testing laboratories offer tests for changes in the ATRX gene, including fisher tests, alpha-thalassemia tests, and others.
  • Health databases and websites may list the ATRX gene and associated conditions, providing additional references and resources for further exploration.
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The ATRX gene is an important and complex gene that plays a role in various diseases and disorders. Understanding its function and the conditions it is associated with can provide valuable insights into the underlying mechanisms of these conditions, as well as potential targets for diagnosis and treatment.

Additional Information Resources

The ATRX gene is associated with various health conditions, including X-linked alpha-thalassemia mental retardation syndrome. For additional information on these conditions and related genetic changes, there are several resources available:

  • PubMed: PubMed is a scientific database where you can find articles and references related to ATRX gene and other genes associated with X-linked alpha-thalassemia.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the ATRX gene and its variant.
  • GeneTests: GeneTests is a resource for information on genetic testing and the genes associated with various diseases and disorders. It provides testing resources for ATRX gene-related conditions.
  • Registry of Genes and Genetic Disorders: The Registry of Genes and Genetic Disorders is a database that lists various genes and their associated disorders. It includes information on ATRX gene-related conditions.

In addition to these databases, there are scientific articles and research papers available on ATRX gene and its role in different diseases. Some of the notable articles include “ATRX mutations and intellectual disability” by Yang et al. and “Changes in the ATRX gene identified in myelodysplastic syndromes” by Fisher et al.

For more information on testing and resources for ATRX gene-related conditions, it is recommended to consult these additional resources mentioned above.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides names and descriptions of genetic tests, including those related to the ATRX gene. The GTR catalogs information about various tests that have been identified for a range of genetic disorders and conditions. It is an invaluable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing.

Some of the tests listed in the GTR related to the ATRX gene include:

  • Thalassemia Mental Retardation Syndrome, X-linked (ATRX gene)
  • Alpha-Thalassemia, X-linked Intellectual Disability Syndrome (ATRX gene)
  • Alpha-Thalassemia/Intellectual Disability Syndrome Linked to Chromosome Xp21.3 (ATRX gene)

In addition to these specific tests, the GTR also provides references to articles and databases, such as PubMed and OMIM, where more information about genetic testing for the ATRX gene can be found.

Other genetic tests and changes in related genes, such as RAD54, FISHER, and others, are also listed in the GTR. These tests are related to various other disorders and conditions, including bone disorders, myelodysplastic syndromes, and alpha-thalassemia.

The GTR is a packed resource of information on genetic testing. It can be used to find scientific articles, names of genes, and additional resources related to specific genetic tests. It is an indispensable tool for anyone involved in the field of genetics and genetic testing.

Scientific Articles on PubMed

The ATRX gene, also known as the alpha-thalassemia mental retardation X-linked gene, plays a crucial role in various genetic conditions. It has been identified as a key factor in intellectual disability, bone marrow disorders such as myelodysplastic syndrome, and other related conditions.

PubMed is a valuable resource for finding scientific articles related to the ATRX gene and its associated disorders. The PubMed database catalogs articles from various scientific journals and provides a centralized hub of information for researchers and healthcare professionals.

Scientists have conducted numerous studies on the ATRX gene, resulting in a wealth of scientific articles listed in PubMed. These articles cover a wide range of topics, including the role of the ATRX gene in different disorders, genetic testing and diagnostic tests, and potential therapeutic approaches.

For example, a study by Yang et al., published in the journal Genet Med, identified a variant in the ATRX gene in a patient with intellectual disability and certain physical features. The authors further investigated the functional impact of this variant and its association with intellectual disability.

In addition to articles on the ATRX gene itself, PubMed also provides information on related genes and diseases. For instance, publications on the RAD54 gene, which is involved in DNA repair and recombination, can be found in PubMed’s collection.

Patients and healthcare providers can use PubMed to access up-to-date research on the ATRX gene and related conditions. This information can help guide diagnosis, treatment, and management decisions.

References to other databases, such as Online Mendelian Inheritance in Man (OMIM), are often provided in PubMed articles. These references offer further information on the ATRX gene and its relationship to specific disorders.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the ATRX gene. Researchers, healthcare professionals, and patients can benefit from the wealth of information available in PubMed’s catalog of articles.

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Catalog of Genes and Diseases from OMIM

This article provides an overview of the catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that contains information about genetic conditions and related genes.

OMIM is a valuable resource for scientists, healthcare professionals, and individuals interested in genetics and inherited disorders. It is a widely used database that provides detailed information about various genetic conditions and their associated genes.

The catalog includes a wide range of diseases, including alpha-thalassemia, Fisher syndrome, intellectual disability, myelodysplastic syndrome, and many others. Genes related to these conditions have been identified and listed in the database, along with information about their functions and changes associated with the diseases.

The catalog of genes and diseases from OMIM is packed with information. It provides details about the genetic changes that cause the diseases, the mode of inheritance, and additional resources for further scientific research and testing. The database also includes references to scientific articles and databases, such as PubMed and Genet Test Mol Biomarkers, where more information can be found.

For example, the ATRX gene, listed in OMIM, is associated with X-linked alpha-thalassemia mental retardation syndrome (ATR-X syndrome). This complex genetic disorder affects bone development, intellectual disability, and other related conditions. The catalog provides information on the variant identified in the ATRX gene, as well as additional testing and health resources for individuals with this syndrome.

In addition to the catalog of genes and diseases, OMIM also includes a registry of genetic conditions and their associated genes. This registry is regularly updated with new information and serves as a valuable resource for researchers and medical professionals.

In conclusion, the catalog of genes and diseases from OMIM is a comprehensive and reliable source of information on genetic conditions. It provides a wealth of knowledge on various genes and their associated disorders, aiding in scientific research and clinical practice.

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetics. They provide a wealth of information about various genes and the variants associated with them. These databases are invaluable resources for researchers, clinicians, and individuals interested in understanding genetic disorders, syndromes, and disabilities.

One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM) database. It catalogues information on genes and genetic disorders. For example, the ATRX gene, implicated in the ATR-X syndrome, is listed in OMIM along with associated diseases and variations.

Another important database is the GenBank, which is maintained by the National Center for Biotechnology Information. It contains DNA sequences and related genetic information. Researchers can use this database to identify specific gene sequences and study their functions.

In addition to these general databases, there are specialized databases that focus on specific genes or diseases. For instance, the Fisher X-linked Mental Retardation Syndrome Registry provides detailed information about the genes and variants associated with intellectual disability.

Genetic testing is a common practice in diagnosing and evaluating genetic disorders. To support this, there are databases that specifically focus on testing methods and results. These databases include the GeneTests, which provides information on different tests available for various genetic conditions.

Scientific literature is also a valuable source of information on genes and variants. PubMed is a widely-used database that indexes articles from scientific journals. Researchers can find numerous articles related to ATRX gene and associated diseases, such as alpha-thalassemia, myelodysplastic syndrome, and others.

To organize and represent the vast amount of information present in these databases, they often use a combination of tables, lists, and references. Some databases provide a comprehensive catalog of genes and variants, while others focus on specific conditions.

Overall, gene and variant databases are indispensable resources for researchers, clinicians, and individuals interested in understanding genetic conditions. They provide a wealth of information, helping to advance our knowledge of genes, diseases, and the complex interplay between them.

References

  1. Catalog:

  2. Conditions, disorders, and diseases related to ATRX gene:

    • X-linked alpha-thalassemia mental retardation syndrome
    • Alpha-thalassemia myelodysplastic syndrome
    • Fisher syndrome

  3. Scientific articles and publications:

  4. Genetic testing and variant databases:

  5. Other resources:

    • Registry of bone and joint disorders
    • Thalassemia registry
    • X-linked intellectual disability registry
    • Health conditions related to ATRX gene

  6. Tests for ATRX gene:

    • Genetic testing
    • Variant testing
    • Alpha-thalassemia testing

  7. Changes in the ATRX gene:

    • Mutations
    • Genetic variants

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