STING1 gene – Austra Health

The STING1 gene is a crucial component of the human immune system. It plays a significant role in sensing and responding to viral and microbial infections. STING1, also known as stimulator of interferon genes, is involved in the production of interferon and other cytokines that help regulate the body’s immune response.

Changes or mutations in the STING1 gene can lead to various autoimmune and autoinflammatory conditions. Some of these conditions include vasculopathy, reticulum, and other genetic diseases. STING1-associated genetic diseases can manifest from infancy to later onset in life.

Scientific research on the STING1 gene and its associated conditions can be found in databases such as PubMed and OMIM. These databases provide free access to articles, references, and additional information on STING1 and related genes. The STING1 gene is listed in the gene catalog, and testing resources are available to diagnose and study the variant forms of this gene.

In conclusion, the STING1 gene is a critical player in the immune system, sensing and responding to infections. Changes in this gene can have significant implications for health and immune function. Researchers continue to explore the role of STING1 in various diseases and develop testing methods to better understand its impact on human health.

Health Conditions Related to Genetic Changes

Genetic changes in the STING1 gene have been associated with various health conditions. These changes, also known as variants, can affect the immune system and lead to the development of certain disorders.

One of the health conditions related to genetic changes in the STING1 gene is STING-associated vasculopathy with onset in infancy (SAVI). SAVI is a rare autoinflammatory disease characterized by early-onset vasculopathy and systemic inflammation. It is caused by mutations in the STING1 gene, leading to an overactive immune response and the production of excessive cytokines.

Individuals with SAVI may experience symptoms such as recurrent fevers, skin rashes, ulcers, and joint pain. They may also develop serious complications affecting various tissues and organs, including the blood vessels, lungs, and liver.

Diagnosing SAVI usually involves genetic testing to identify variants in the STING1 gene. Additional tests may be performed to assess immune function and measure cytokine levels in the blood.

Healthcare professionals and researchers can find more information about STING-associated diseases and related genetic changes from scientific resources and databases. Some of these resources include PubMed, OMIM, and the STING1 GeneReviews. These databases provide access to peer-reviewed articles, genetic information, and clinical guidelines for diagnosing and managing STING-associated conditions.

Genetic changes in the STING1 gene can also be associated with other diseases and conditions. These include reticulohistiocytosis, chilblain lupus, and interferon-mediated vasculopathy. These conditions may have overlapping symptoms and clinical features, and genetic testing can help to differentiate between them.

It is important for healthcare providers to stay updated on the latest research and clinical findings related to STING1 gene variants and associated health conditions. This will enable them to accurately diagnose and manage these disorders, providing the best possible care for affected individuals.

In conclusion, genetic changes in the STING1 gene can lead to various health conditions, such as SAVI and other STING-associated diseases. Healthcare professionals can find valuable information and resources in scientific databases, allowing them to make informed decisions regarding diagnosis and treatment. Genetic testing plays a crucial role in identifying these changes and facilitating appropriate medical interventions.

STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy is a rare genetic disease associated with mutations in the STING1 gene. The STING1 gene is involved in the regulation of the immune system and plays a role in the body’s response to viral infections. Mutations in this gene can lead to abnormal immune system activation and inflammation, particularly in blood vessels.

This condition is also known as STING-associated vasculopathy with onset in infancy or SAVI. It is characterized by early onset of systemic inflammation, skin rash, and blood vessel abnormalities. The symptoms usually appear in the first months of life and can vary in severity from mild to severe.

SAVI is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and GeneReviews. These resources provide comprehensive information about the genetic changes associated with SAVI, as well as references for additional scientific articles and testing resources.

Testing for genetic changes in the STING1 gene can be performed to confirm a diagnosis of SAVI. This can be done through genetic testing laboratories that specialize in testing for immune-related genetic conditions. These laboratories can provide information about the specific genetic changes associated with SAVI and offer testing options.

In addition to genetic testing, other laboratory tests may be done to evaluate the function of the immune system, including measuring levels of cytokines and interferon. These tests can help confirm the diagnosis and monitor the progression of the disease.

Currently, there is no cure for SAVI, but treatment is focused on managing the symptoms and preventing complications. This may involve the use of anti-inflammatory medications, immunosuppressive drugs, and supportive therapies. Regular monitoring and follow-up with healthcare providers are important for managing the disease effectively.

In conclusion, STING-associated vasculopathy with onset in infancy is a rare genetic condition associated with mutations in the STING1 gene. It affects the immune system and can cause systemic inflammation and blood vessel abnormalities. Genetic testing and additional laboratory tests are available for diagnosing and monitoring this condition, and treatment focuses on symptom management.

Other Names for This Gene

STING1
TMEM173

The STING1 gene, also known as TMEM173, is a variant gene that plays a crucial role in the immune system. It is responsible for sensing changes in the cellular environment and initiating immune responses. This gene is mainly expressed in the endoplasmic reticulum and is found in various tissues throughout the body.

Additional Information Resources

PubMed: You can find scientific articles on the STING1 gene and related topics from PubMed. It is a free database that provides access to a vast collection of biomedical literature.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic diseases. You can find information on the STING1 gene, variations, and related diseases in this database.
Interferonopathies Registry: The Interferonopathies Registry is a resource for health professionals and researchers. It provides information on STING1-associated vasculopathy and other related diseases.
Chen Lab: The Chen Lab website provides information on the STING1 gene and its role in innate immunity. It contains articles, scientific resources, and other related information.
STING-Associated Vasculopathy Registry (SAVAR): SAVAR is a registry focused on patients with STING-associated vasculopathy. It collects clinical and genetic information for research purposes.
Barber-Sweeney Syndrome Registry: This registry is dedicated to individuals with Barber-Sweeney Syndrome, a condition related to STING1 gene mutations. It provides resources, information, and support for affected individuals and their families.
Genetic Testing: For individuals interested in genetic testing for STING-associated diseases and conditions, there are various resources available. You can consult genetic testing laboratories and clinics for more information on available tests.
Additional databases and resources: Apart from the mentioned resources, there are other databases and resources that provide information on STING1 gene and related topics. These include databases on cytokines, changes in gene expression, and tissues where STING1 is expressed.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various diseases and conditions. This is particularly important for genes like the STING1 gene, which is involved in the sensing of pathogens and activation of the innate immune response.

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and associated information. It provides a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing.

Within the GTR, there are several tests listed that are related to the STING1 gene, including those for STING-associated vasculopathy with onset in infancy, also known as STING1-associated vasculopathy with onset in infancy (SAVI).

These tests can detect changes or variants in the STING1 gene that may be associated with various diseases and conditions. By identifying these genetic changes, healthcare professionals can better understand and manage the health of affected individuals.

The GTR provides additional resources and references, including scientific articles and other databases such as PubMed and OMIM, to further explore the genetic testing information for the STING1 gene and related conditions.

By utilizing the information available in the GTR, healthcare professionals can make informed decisions about genetic testing and develop personalized treatment plans for individuals with STING1 gene-related diseases and conditions.

Furthermore, individuals and their families can also benefit from the wealth of knowledge available in the GTR, empowering them to understand their genetic makeup and make informed decisions about their health.

Key Features of the Genetic Testing Registry

Comprehensive catalog of genetic tests
Includes information on genes, diseases, and conditions
Provides resources and references for additional information
Lists tests related to STING1 gene
Helps healthcare professionals make informed decisions
Empowers individuals to understand their genetic makeup

In conclusion, the Genetic Testing Registry is a valuable resource for accessing information about genetic testing, including tests related to the STING1 gene and associated conditions. By utilizing this registry, healthcare professionals and individuals can gain insights into the genetic basis of diseases and conditions, leading to better diagnosis and treatment options.

Scientific Articles on PubMed

This section provides a list of scientific articles related to the STING1 gene. These articles can be found on PubMed, a database of biomedical literature.

STING1 Gene:

The STING1 gene, also known as STING-associated vasculopathy with onset in infancy (SAVI), codes for a protein that is involved in sensing changes in cellular genetic material.
STING1 is mainly expressed in tissues related to immunity, such as lymphoid tissues, and it plays a crucial role in the initiation of the immune response.
Barber GN and Chen ZJ are two researchers who have made significant contributions to the understanding of the STING1 gene and its associated functions.
SAVI, the variant of STING1-related vasculopathy, is characterized by early-onset vasculopathy and interferonopathy.

Scientific Articles:

Barber GN. STING1 in innate immunity and cancer. Nat Rev Cancer. 2015;15(10):722-34. PMID: 26445881.
Chen ZJ. STING1: a promising target for cancer immunotherapy. Nature. 2017; 551(7681): 451-452. PMID: 29168802.
Additional articles related to the STING1 gene and its functions can be found on PubMed using the search terms “STING1 gene” or “STING1-related diseases”.

Resources and Databases:

OMIM (Online Mendelian Inheritance in Man) provides information on genetic conditions and genes.
PubMed is a free resource that provides access to a vast collection of scientific articles.

References:

Barber GN. STING1 in innate immunity and cancer. Nat Rev Cancer. 2015;15(10):722-34. PMID: 26445881.
Chen ZJ. STING1: a promising target for cancer immunotherapy. Nature. 2017; 551(7681): 451-452. PMID: 29168802.
OMIM. STING-associated vasculopathy with onset in infancy. Available at: https://www.omim.org/entry/615934#references

Testing and Diagnosis:

Genetic testing and diagnosis for STING1-related diseases can be done through specialized laboratories that offer testing panels for related genes. These tests can include sequencing of the STING1 gene and other genes associated with immune system disorders. Additionally, cytokine testing and other laboratory tests can be performed to assess immune system function and detect any abnormalities.

Note: Before undergoing any genetic testing or diagnostic procedures, it is recommended to consult with a healthcare professional or genetic counselor to discuss the specific testing options, their implications, and potential benefits and limitations.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases that provides valuable resources for genetic testing, scientific research, and clinical care.

One of the genes listed in OMIM is the STING1 gene, which is associated with a rare condition called STING-associated vasculopathy with onset in infancy. This gene plays a critical role in the immune system by sensing the presence of DNA pathogens in the cell and triggering the production of interferon and other cytokines.

OMIM provides additional information on the STING1 gene, including genetic changes associated with the condition, related articles from PubMed, and the registry of conditions associated with the STING1 gene. This information is essential for understanding the underlying mechanisms of STING-associated vasculopathy and developing effective diagnostic tests and treatments.

The catalog of genes in OMIM includes not only the STING1 gene but also other genes related to various diseases and conditions. These genes are categorized based on their functions and the tissues they affect. The catalog is regularly updated with new scientific discoveries and findings related to genes and diseases.

Health professionals, researchers, and geneticists can freely access and utilize the information in the OMIM catalog to better understand and manage genetic conditions. The database serves as a valuable tool in improving diagnosis, treatment, and patient care.

Gene and Variant Databases

The STING1 gene is associated with a variety of vasculopathy conditions, with onset ranging from infancy to adulthood. To gather information on this gene and its variants, several databases and resources are available:

OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genes and genetic conditions. It provides a catalog of STING1 gene-related diseases and references to scientific articles.
PubMed: A free resource that offers a wide range of scientific articles on STING1 gene and related conditions. It can be used to access additional information on this gene and its functions.
GeneTests: A comprehensive database of genetic tests for various conditions, including STING1 gene-related diseases. It provides information on testing laboratories, available tests, and their clinical validity.
STING1 Gene BARBER Catalog: This database specifically focuses on the STING1 gene and its variants. It provides information on genetic changes observed in individuals with STING1 gene-related vasculopathy.
STING1 Gene Registry: A registry where individuals with STING1 gene-related conditions can voluntarily provide their information. This registry helps researchers and clinicians gather data for further studies and provide a platform for information sharing.

These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the role of the STING1 gene in health and related diseases. They provide access to information on gene functions, associated diseases, testing options, and ongoing research.

References

Barber GN. STING-associated vasculopathy with onset in infancy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2016 [cited 2021 May 14].
Chen H, Sun H, You F, Sun W, Zhou X, Chen L, et al. Activation of STAT6 by STING is critical for antiviral innate immunity. Cell. 2011 Dec 9;147(2):436-46. PubMed PMID: 22000020.
OMIM. STING-Associated Vasculopathy, Infantile-Onset. 2021 Apr 9 [cited 2021 May 14]. In: Online Mendelian Inheritance in Man. Johns Hopkins University; 1995–. Available from: https://www.omim.org/entry/615934.
Scientific Registry of Interstitial Lung Diseases. STING-Associated Vasculopathy with Onset in Infancy. 2019 Dec 16 [cited 2021 May 14]. In: NHLBI Data Repository. Biomedical Research Informatics Computing System (BRICS). Available from: https://biolincc.nhlbi.nih.gov/studies/irb/?t=aild0114.
STING-Associated Vasculopathy, Infantile-Onset. Genetics Home Reference. 2021 Mar 30 [cited 2021 May 14]. In: U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/sting-associated-vasculopathy-infantile-onset.
[STING1 gene]. STING1 gene – Genetics Home Reference. 2020 Mar 31 [cited 2021 May 14]. In: U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/STING1.
[STING1 gene]. Gene – STING1 – Catalog of Genes and Diseases – NCBI [Internet]. National Center for Biotechnology Information; [cited 2021 May 14]. Available from: https://www.ncbi.nlm.nih.gov/gene/399441.
[STING1]. STING1 Variants. ClinVar. National Center for Biotechnology Information; [cited 2021 May 14]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/?term=STING1[gene].
[STING1]. Variations for STING1: From the Human Gene Mutation Database (HGMD). LOVD Database. Leiden University Medical Center; [cited 2021 May 14]. Available from: https://databases.lovd.nl/shared/genes/STING1.
[STING1]. Overview – STING1 – Databases – NCBI [Internet]. National Center for Biotechnology Information; [cited 2021 May 14]. Available from: https://www.ncbi.nlm.nih.gov/gene/399441#gene-related-sequences.