SP110 gene – Austra Health

The SP110 gene, also known as the nuclear body protein SP110, is a gene that encodes a protein involved in various cellular processes. It is mainly expressed in the immune system and plays a role in the regulation of immune responses. The SP110 protein acts as a coactivator for several nuclear receptors, including the retinoic acid receptor and the androgen receptor, and is involved in gene expression and transcriptional regulation.

SP110 gene variants have been linked to several diseases and disorders. For example, mutations in the SP110 gene have been associated with pulmonary veno-occlusive disease, a rare disorder characterized by the blockage of small veins in the lungs. Other variants of the SP110 gene have been implicated in immunodeficiency disorders and hepatic diseases.

There are several resources available for scientists and researchers to access information about the SP110 gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the gene, its variants, and associated diseases. PubMed, a database of scientific articles, also lists references related to the SP110 gene and its role in various diseases and conditions.

In addition, there are genetic testing and registry resources that provide testing services for SP110 gene variants and allow individuals to contribute their genetic information to a database for scientific research. These resources play a crucial role in understanding the function and role of the SP110 gene and its variants in health and disease.

Health Conditions Related to Genetic Changes

Genetic changes in the SP110 gene can be associated with various health conditions. These genetic changes can lead to immunodeficiency, pulmonary veno-occlusive disease, hepatic veno-occlusive disease, and other disorders.

SP110 is a gene that codes for a protein involved in regulating immune responses. It plays a role in the activation of genes related to the innate and adaptive immune systems. Genetic variants in the SP110 gene can affect the function of this protein and disrupt the immune system, leading to immunodeficiency.

In addition to immunodeficiency, changes in the SP110 gene have been linked to other health conditions. Some variants of the gene have been associated with pulmonary veno-occlusive disease, a rare condition that affects the blood vessels in the lungs. Hepatic veno-occlusive disease, a condition affecting the small veins in the liver, has also been linked to genetic changes in the SP110 gene.

Information on these health conditions related to SP110 gene changes can be found in various resources. PubMed, a scientific database, provides articles and references on these diseases and their genetic links. The Online Mendelian Inheritance in Man (OMIM) database also lists genetic changes in the SP110 gene as associated with these health conditions.

To determine if a genetic change in the SP110 gene is present, genetic testing can be performed. These tests can identify specific variations in the gene that may be related to the disease. If a genetic change is found, additional tests and resources can help provide more information on the specific health condition and possible treatment options.

A registry called the Genetic Testing Registry (GTR) also provides information on genetic tests available for SP110 gene variants and related diseases. This registry includes names of laboratories performing the testing, as well as available tests and contact information.

In summary, changes in the SP110 gene can lead to various health conditions, including immunodeficiency, pulmonary veno-occlusive disease, and hepatic veno-occlusive disease. Genetic testing and resources such as PubMed and OMIM can provide more information on these conditions and the genetic links to the SP110 gene.

Hepatic veno-occlusive disease with immunodeficiency

Hepatic veno-occlusive disease with immunodeficiency is a genetic condition that affects the liver and the immune system. It is also known by other names such as SP110-related veno-occlusive disease with immunodeficiency or pulmonary veno-occlusive disease with immunodeficiency.

This condition is caused by variants in the SP110 gene. Variants in this gene can lead to changes in the function of the SP110 protein, which is involved in regulating gene transcription. These changes can result in hepatic veno-occlusive disease, which is a condition characterized by the narrowing and blocking of small veins in the liver.

In addition to liver problems, individuals with hepatic veno-occlusive disease with immunodeficiency also have immunodeficiency, which means their immune system is compromised and they are more susceptible to infections.

There is limited scientific information available on hepatic veno-occlusive disease with immunodeficiency. However, there are resources such as PubMed and OMIM that provide articles, references, and additional information on this condition. Genetic testing may be available to identify variants in the SP110 gene.

Other related genes and disorders may also be listed in databases such as the GeneReviews and the Genetic Testing Registry. It is important to consult with a healthcare professional or genetic counselor for more information and guidance on testing and available resources.

Other disorders

The SP110 gene variant has been associated with a range of conditions. Genetic testing can help identify individuals with these disorders.

Immunodeficiency – Pulmonary disease (SP110-related)
Hepatic veno-occlusive disease with immunodeficiency (SP110-related)

Additional information and resources on these disorders can be found through the following databases and registries:

Database/Registry	Genes	Related Information
OMIM	SP110	Scientific articles, references, and names of related genes
PubMed	SP110	Scientific articles and references on SP110 gene
PubMed	SP110 coactivator or receptor genes	Scientific articles and references on SP110 coactivator or receptor genes
GENE	SP110	Catalog of genetic changes and variants in SP110 gene

Testing for these disorders can provide valuable insight into the genetic basis of the diseases and help guide clinical management and treatment decisions.

For more information on testing, contact your healthcare provider or consult the resources listed above.

Other Names for This Gene

The SP110 gene is also called:

Coactivator ONC-77
Hepatic nuclear factor 3-alpha
LAP4
SP110 nuclear body protein
Veno-occlusive disease with immunodeficiency

These names are used in various databases and resources to refer to the same gene.

Genetic changes and variants in this gene have been found to be associated with a variety of conditions and diseases, such as:

Pulmonary veno-occlusive disease
Hepatic veno-occlusive disease
Autoimmune hepatitis
Primary biliary cirrhosis

Additional information on this gene, including scientific articles, references, and related genes, can be found in databases such as PubMed, OMIM, and the NCBI Gene database.

Testing for variants in this gene may be available through genetic testing laboratories and clinical testing services. This can help in diagnosing and understanding various disorders and diseases associated with this gene.

Additional Information Resources

In addition to the information provided above, here are some additional resources you can use to learn more about the SP110 gene and related disorders:

Gene testing: There are several genetic testing options available for disorders related to the SP110 gene. These tests can help identify changes or variants in the SP110 gene that may be associated with certain conditions. You can consult with a healthcare professional or genetic counselor for more information on testing options.
Online databases: Various online databases and registries provide comprehensive information about the SP110 gene, its variants, and associated disorders. Some examples include OMIM (Online Mendelian Inheritance in Man) and PubMed, where you can find scientific articles and references related to the SP110 gene.
Pulmonary veno-occlusive disease: SP110 gene mutations have been implicated in the development of pulmonary veno-occlusive disease, a rare condition affecting the blood vessels in the lungs. Learning more about this disease can provide insights into the role of the SP110 gene in its pathogenesis.
Other genes: It is important to note that the SP110 gene is not the only gene associated with immunodeficiency disorders. There are many other genes involved in the regulation of the immune system and the development of various diseases. Exploring these other genes may provide a broader understanding of immunodeficiency-related conditions.

Remember to consult with healthcare professionals, such as doctors and genetic counselors, for accurate and personalized information related to your health and genetic conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for various conditions. In relation to the SP110 gene, the GTR lists several tests for different diseases and conditions. These tests help in identifying changes or variants in the gene that may be associated with specific health issues.

The GTR catalogs tests from various databases and resources, such as PubMed, OMIM, and other scientific articles. It provides references and additional information on the tests listed, including the genes involved, the diseases or conditions tested for, and the databases where the tests are located.

Some of the tests listed in the GTR related to the SP110 gene include tests for hepatic veno-occlusive disease, pulmonary disease, and immunodeficiency. These tests help in diagnosing and understanding the genetic basis of these conditions.

For each test listed in the GTR, there is information on the gene being tested, the variant or changes being analyzed, and the disease or condition it is associated with. The GTR provides links to relevant articles, databases, and resources for further information on the tests.

It is important to note that the GTR is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic testing. It offers a comprehensive catalog of tests and resources, making it easier to access relevant information on different genetic conditions and genes.

To find specific tests related to the SP110 gene or other genes, individuals can search the GTR using keywords or specific gene names. This allows for targeted searches and provides access to the latest research and information on genetic testing for various diseases and conditions.

Scientific Articles on PubMed

PubMed is a widely used free resource for accessing scientific articles in the field of health and medicine. It provides access to a vast database of publications, including articles on the SP110 gene and other related genes.

The SP110 gene is associated with various disorders and conditions, and PubMed offers a comprehensive catalog of scientific publications on this topic. By searching for the SP110 gene on PubMed, researchers and healthcare professionals can find valuable information for genetic testing, disease diagnosis, and treatment.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic conditions, including diseases and disorders, that provides information on the relationship between genes and specific health conditions. It serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information about genetic diseases.

OMIM catalogs genes with known variants, as well as genes linked to various diseases and disorders. It provides information on the scientific changes associated with these genes and the conditions they cause.

The catalog includes a registry of genetic conditions and genes associated with them. For each condition, information such as the gene involved, associated variants, and relevant references from scientific articles and PubMed are provided. OMIM also lists additional resources, such as molecular testing laboratories and databases, for further information on each disease.

One of the genes listed in the OMIM catalog is the SP110 gene. Mutations in this gene are associated with veno-occlusive disease, hepatic, noncirrhotic, type 1 (VODHH1) and immunodeficiency, centromeric instability, and facial anomalies syndrome 3 (ICF3). These conditions have been extensively studied, and OMIM provides detailed information on the genetic changes associated with the SP110 gene in relation to these diseases.

OMIM also provides links to related articles and references in PubMed, a database of scientific publications. These references allow users to explore the scientific literature on the gene and disease of interest.

For healthcare professionals and individuals seeking diagnostic testing, OMIM provides information on laboratories offering molecular testing for specific conditions. These tests can help confirm a diagnosis based on genetic variants associated with the disease.

In summary, OMIM is a comprehensive catalog of genes and genetic conditions, offering a wealth of information on the relationship between genes and diseases. It serves as an invaluable resource for scientists, healthcare professionals, and individuals seeking information on genetic disorders.

Gene and Variant Databases

Gene and variant databases are important resources for accessing information about genes, genetic variants, and related disorders. These databases provide a comprehensive catalog of genes and their associated variants, along with additional scientific articles and resources related to these genes and variants.

One of the most well-known gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genes and genetic variants associated with various diseases and conditions. It includes information on the inheritance patterns, clinical characteristics, and molecular basis of these diseases.

Another important database is the PubMed database, which is a comprehensive resource for scientific articles and information related to genes and genetic variants. It allows researchers to search for articles on specific genes or variants and provides access to full-text articles for further reading.

In addition to these databases, there are also several disease-specific databases that focus on specific conditions or disorders. For example, the Primary Immunodeficiency Diseases (PID) database provides information on genes and variants associated with immunodeficiency disorders, while the Veno-Occlusive Disease (VOD) Genetic Variant Registry focuses on genetic variants associated with hepatic veno-occlusive disease.

Gene and variant databases provide a valuable resource for researchers and healthcare professionals alike. They enable the identification of genetic changes associated with specific diseases, facilitate genetic testing and diagnosis, and contribute to a better understanding of the molecular basis of diseases.

Overall, these databases play a critical role in advancing our knowledge of genetic disorders and improving patient care and health outcomes.

References

SP110 gene changes – PubMed
Pulmonary veno-occlusive disease – Genetics Home Reference
Other genes associated with hepatic veno-occlusive disease – OMIM
SP110 gene testing for immunodeficiency disorders – PubMed
SP110 gene variants in pulmonary disease – PubMed
SP110 gene coactivator in pulmonary diseases – PubMed

For additional information on related genes and diseases, refer to the following resources:

Online Mendelian Inheritance in Man (OMIM) – https://www.omim.org/
GeneTests – https://www.ncbi.nlm.nih.gov/gtr/
National Institutes of Health Genetic Testing Registry – https://www.ncbi.nlm.nih.gov/gtr/
PubMed – https://www.ncbi.nlm.nih.gov/pubmed/
ClinVar – https://www.ncbi.nlm.nih.gov/clinvar/