JAG1 gene – Austra Health

The JAG1 gene is a scientific term used to refer to the jagged1 gene. This gene is a critical component within the Notch signaling pathway, which plays a significant role in various biological processes. Mutations in the JAG1 gene have been identified as the cause of Alagille syndrome, a rare genetic disorder that affects multiple organ systems.

Alagille syndrome, also known as ALGS, is characterized by a range of symptoms including liver abnormalities, heart defects, skeletal malformations, and facial features. The JAG1 gene is one of the genes associated with this syndrome, and mutations in this gene can result in a decreased production of functional Jagged1 protein.

In scientific literature, the JAG1 gene is often referenced with its various alternative names, such as “ALGS1”, “Jagged 1”, or “Serotonylation-dependent agrin receptor”. These different names can be found in databases and resources such as PubMed, OMIM, and GeneCards, providing additional information and references related to the gene and associated conditions.

Testing for mutations in the JAG1 gene can be done through genetic analysis, and it is particularly relevant for individuals with symptoms of Alagille syndrome or related disorders. This testing can provide crucial information for diagnosis, prognosis, and management of affected individuals. Additionally, other tests, such as liver function tests and cardiac imaging, may be done to evaluate the specific organ systems affected in a given individual.

As the understanding of the JAG1 gene and related syndromes continues to evolve, ongoing research and collaboration among scientific communities will contribute to the development of new diagnostic tools and therapies. This will improve the health outcomes for individuals with Alagille syndrome and may have implications for other diseases and conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the JAG1 gene can lead to various health conditions and syndromes. The JAG1 gene provides instructions for making a protein called jagged1. This protein is part of a signaling pathway known as the Notch pathway, which plays a critical role in the development and function of many different cells and tissues in the body.

Changes in the JAG1 gene can result in a variant of a syndrome called Alagille syndrome. This syndrome is characterized by liver problems, heart defects, and other health issues. The JAG1 gene is one of several genes that have been associated with Alagille syndrome.

Diagnosis of Alagille syndrome and other diseases related to changes in the JAG1 gene can be confirmed through genetic testing. Genetic testing involves the analysis of an individual’s DNA to look for changes or mutations in specific genes.

Genetests, an online resource for information on genetic tests, provides a catalog of genetic tests for a wide range of diseases, including those related to the JAG1 gene. Additional resources for genetic testing and information can be found within other databases such as OMIM and PubMed.

In particular, the Colliton et al. article listed in the references section of this article provides a comprehensive analysis of JAG1 gene mutations and their association with various health conditions. This scientific article includes a detailed list of names for different JAG1 gene mutations and their associated diseases or conditions.

It is important to note that genetic changes in the JAG1 gene can also be associated with the development of certain cancers and other health conditions. Further research and testing may be needed to fully understand the role of JAG1 gene mutations in these diseases and conditions.

Alagille syndrome

Alagille syndrome is a genetic disease that is characterized by a range of abnormalities affecting various organs and systems in the body. It is caused by mutations in the JAG1 gene, which is responsible for encoding the protein jagged1. Jagged1 is a critical component of the Notch signaling pathway, which plays a key role in the development of many organs, including the liver, heart, and blood vessels.

Individuals with Alagille syndrome typically have liver problems, such as bile duct paucity and cholestasis, which can lead to liver disease. In addition, they may also exhibit heart defects, facial abnormalities, skeletal abnormalities, and other systemic features.

The Alagille syndrome is listed in various databases, such as OMIM and PubMed, which provides scientific information on genetic diseases and related research articles. Through these databases, additional information on the syndrome, including specific genetic changes and other associated conditions, can be found.

Diagnosis of Alagille syndrome is typically based on clinical evaluation and genetic testing. Genetic testing can identify mutations in the JAG1 gene or other genes associated with the syndrome. This testing can be done through various genetic testing companies and laboratories, which offer specific tests for the genes involved.

Treatment for Alagille syndrome is aimed at managing the specific symptoms and complications associated with the disorder. This may involve dietary modifications, medications to manage liver and heart problems, and surgical interventions when necessary.

Overall, Alagille syndrome is a complex genetic disorder that affects multiple organ systems. Understanding the underlying genetic changes and associated conditions is critical for accurate diagnosis and appropriate management of the disease.

References:

Alagille Syndrome. Genetics Home Reference. Retrieved from: https://ghr.nlm.nih.gov/condition/alagille-syndrome
Colliton, R. P., & Bason, L. D. (1999). Alagille Syndrome: An overview. The American Journal of Medical Genetics, 165-169.
Spinner, N. B., & Demarco, M. (2007). Alagille Syndrome. GeneReviews®. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK1267/
Alagille Syndrome. Genetic and Rare Diseases Information Center. Retrieved from: https://rarediseases.info.nih.gov/diseases/5771/alagille-syndrome

Critical congenital heart disease

Critical congenital heart disease (CCHD) is a syndrome associated with genetic changes in the JAG1 gene. It is a particular form of congenital heart disease characterized by severe heart defects present at birth. CCHD is often associated with other syndromes, including Alagille syndrome, which is caused by mutations in the JAG1 gene.

The JAG1 gene, also known as jagged1, provides instructions for making proteins that are involved in the Notch signaling pathway. This pathway is essential for the normal development and function of various cells and tissues, including the heart. Changes in the JAG1 gene can disrupt the Notch signaling pathway, leading to critical congenital heart defects.

The diagnosis of CCHD often requires genetic testing to identify changes in the JAG1 gene. Several databases and registries, such as OMIM and PubMed, provide resources for the analysis of genetic variants associated with CCHD. Additional tests, such as liver function tests, may also be performed to assess liver involvement, as liver problems are common in Alagille syndrome.

Genetic testing for CCHD is listed in the catalog of genetic tests and provides critical information for diagnosis and management. The result of genetic testing can help confirm a suspected diagnosis of CCHD and provide important information for the management and treatment of the condition.

In conclusion, critical congenital heart disease is a genetic disease associated with changes in the JAG1 gene. It is often related to other syndromes, such as Alagille syndrome, and requires genetic testing for diagnosis. Resources such as databases and scientific articles provide valuable information for the analysis of genetic variants associated with CCHD. Testing for CCHD is critical for accurate diagnosis and appropriate management.

Cancers

The JAG1 gene, listed as Jagged1 in medical literature and databases, is a critical gene that plays a role in various health conditions, including cancers. The JAG1 gene is a member of the Notch signaling pathway and is involved in cell communication and development.

Alterations in the JAG1 gene have been found in several cancers, indicating its potential role in tumorigenesis. The Pubmed database provides numerous scientific articles and references linking the JAG1 gene to cancers, including liver cancer and other types of tumors. These studies indicate that changes in the JAG1 gene may contribute to the development and progression of these cancers.

Other Names for This Gene

The JAG1 gene is also known by other names, including:

Alagille syndrome 1
AGS1
Delta-like 1 homolog
Notch ligand 1
HJ1
CD339 antigen
Jagged1

These alternative names are used to refer to the same gene, and can be found in various scientific articles, databases, and resources related to genetic testing, diseases, and conditions. They may provide additional information and references for further analysis.

The JAG1 gene is critical for proper development and function of various cells and tissues in the body. Changes or variants in this gene can result in diseases such as Alagille syndrome, a congenital disorder characterized by liver and heart defects, among other symptoms.

Testing for changes in the JAG1 gene can be performed using various genetic tests, and the results can provide valuable information for diagnosis and management of the associated diseases. Increased understanding of the function and role of JAG1 gene and its related proteins, such as Notch proteins, is essential for further research and development of potential treatments for related conditions.

References to the JAG1 gene and its associated conditions can be found in scientific literature, databases such as OMIM (Online Mendelian Inheritance in Man), and other resources, including the Alagille Syndrome Alliance registry and genetic testing labs.

In particular, PubMed, a comprehensive database of scientific articles, provides a wealth of information on the JAG1 gene and its role in various diseases and conditions. The gene is also listed in the GeneCards database, which offers detailed information on genes, proteins, and diseases.

Overall, the JAG1 gene, with its various other names, is a central element in the understanding of Alagille syndrome and related conditions. Further research, testing, and analysis of this gene are critical for advancing knowledge and improving health outcomes for individuals affected by diseases associated with JAG1 gene changes.

Additional Information Resources

The JAG1 gene is a critical gene that provides instructions for making a protein called jagged1. Changes (variants) in the JAG1 gene can result in a condition known as Alagille syndrome.

Alagille syndrome is a genetic disorder that affects multiple systems in the body, including the liver, heart, and other organs. It is characterized by a range of signs and symptoms, including liver abnormalities, heart defects, and changes in the butterfly-like structure (spinner) of the vertebrae. Alagille syndrome is typically diagnosed based on clinical features, genetic testing, and other tests.

For individuals who have been diagnosed with Alagille syndrome or are seeking more information about the condition, the following additional resources may be helpful:

Alagille Syndrome Alliance: A registry for individuals with Alagille syndrome that provides information and support. This organization also sponsors scientific research and maintains a database of individuals with Alagille syndrome.
ClinVar: A publicly available database of genetic variants and their relationship to human health. ClinVar provides a central location for information on genetic variations, including those in the JAG1 gene.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Alagille syndrome (listed as ALGS) includes information on the JAG1 gene and references to scientific articles related to the disease.
PubMed: A database of scientific articles from a variety of biomedical fields, including genetics. Searching for “JAG1 gene” or “Alagille syndrome” in PubMed can provide access to the latest research on these topics.
Genetic Testing Registry: A resource that provides information about genetic tests and laboratories that offer testing for a variety of genetic conditions, including Alagille syndrome. The Genetic Testing Registry can help individuals find testing options and understand the available tests.
Notch Signaling Pathway: The Notch signaling pathway is a critical cellular pathway that plays a role in development and disease. Understanding the function of the jagged1 protein and how it interacts with other proteins within the Notch pathway can provide insights into the causes of Alagille syndrome and related conditions.
Cancer-related Resources: While Alagille syndrome is primarily associated with liver and heart abnormalities, some individuals with Alagille syndrome have an increased risk for certain cancers. Therefore, individuals with Alagille syndrome or their healthcare providers may find it helpful to consult cancer-related resources, such as cancer registries and organizations that provide information on cancer prevention and screening.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central location for information on genetic tests. This resource contains a catalog of tests for a variety of conditions within the JAG1 gene. These tests play a critical role in the analysis and diagnosis of diseases related to the JAG1 gene, including the Alagille syndrome.

The JAG1 gene, also known as the jagged1 gene, codes for a protein that is crucial during embryonic development. The protein, called Jagged-1, is involved in the Notch signaling pathway, which regulates cell-to-cell communication and plays a key role in the development of various organs.

Genetic testing for the JAG1 gene can help identify changes or variants within the gene that may lead to the development of certain health conditions. For example, mutations in the JAG1 gene can result in congenital heart defects, liver problems, and other symptoms associated with Alagille syndrome.

The Genetic Testing Registry provides a comprehensive list of scientific names, test names, and additional information for various tests related to the JAG1 gene. This resource includes references to scientific articles, PubMed, OMIM, the Human Gene Mutation Database, and other databases that offer valuable resources for genetic testing and analysis.

These tests listed in the Genetic Testing Registry can be crucial in identifying the presence of JAG1 gene mutations and guiding appropriate medical management. The information provided can help healthcare professionals make informed decisions about patient care, genetic counseling, and treatment options.

It is important to note that a positive test result for JAG1 gene mutations does not necessarily mean a person will develop the associated health conditions. The presence of genetic changes may increase the risk of developing certain diseases, but other factors, such as environmental influences, also play a role.

Overall, the Genetic Testing Registry serves as a valuable resource for healthcare professionals and researchers working in the field of genetics. It provides a comprehensive catalog of tests related to the JAG1 gene and offers a wealth of information and references to aid in the understanding and diagnosis of genetic diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to the JAG1 gene and its associated diseases. The JAG1 gene, also known as jagged1, is involved in the Notch signaling pathway and plays a critical role in cell-to-cell communication. Mutations or changes in this gene can lead to various diseases, including Alagille syndrome, a congenital disorder that affects multiple organ systems, particularly the liver and heart.

The PubMed database, along with other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genet Test Registry, provides a catalog of articles and references related to this gene and its associated diseases. Researchers and healthcare professionals can use these resources to access additional information on specific conditions and conduct further analysis on the genetic variant and its effects on health.

Scientific articles listed on PubMed cover a wide range of topics, including the role of the JAG1 gene in liver and heart diseases, the function of Notch signaling pathway in various cells, and the increased risk of certain cancers associated with JAG1 gene mutations.

Notable articles on PubMed related to the JAG1 gene include:

Colliton RP and Bason L. Alagille Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1273/
Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 1997;16(3):235-242. doi:10.1038/ng0797-235
Dougherty GW, Chopp T, Qi SM, et al. Alagille syndrome: a study of 14 mutation-positive individuals with a stepwise approach to clinical diagnosis. Genet Med. 2011;13(10):946-956. doi:10.1097/GIM.0b013e3182227576

These articles provide valuable insights into the pathogenesis, clinical features, and diagnostic tests for Alagille syndrome and other diseases associated with JAG1 gene mutations. They also highlight the importance of genetic testing and variant analysis in diagnosing and managing these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive database of genetic information related to various diseases. It covers a wide range of conditions, including heart-related diseases, liver diseases, and other syndromes. It is a valuable resource for scientists, medical professionals, and researchers studying genetic diseases.

The catalog includes detailed information on genes and their associated diseases. One such gene is the JAG1 gene, which is associated with a condition called Alagille syndrome. Alagille syndrome is a rare genetic disorder that affects multiple organ systems, including the heart, liver, and other critical cells in the body.

The JAG1 gene plays a crucial role in the Notch signaling pathway, which is responsible for cell communication and development. Changes or mutations in the JAG1 gene can lead to the development of Alagille syndrome. Testing for variants in this gene is often performed to confirm a diagnosis of Alagille syndrome.

The catalog also lists additional genetic tests for various diseases and provides references to scientific articles and resources for further analysis. It includes information on other genes involved in different diseases, such as different types of cancers and congenital heart defects.

In addition to the JAG1 gene, the catalog provides information on other genes, proteins, and diseases within the Notch signaling pathway, including the Jagged1 protein. The Jagged1 protein is encoded by the JAG1 gene and plays a critical role in cell development and differentiation.

The catalog is a valuable resource for researchers and medical professionals looking for information on genetic diseases. It provides a comprehensive database of genes and diseases, along with references to scientific articles and other resources for further analysis.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for studying genetic diseases. It offers a wealth of information on various genes, diseases, and associated conditions, making it an essential resource for researchers and medical professionals.

Gene and Variant Databases

Particular variant and critical databases have been established to gather information about the JAG1 gene and its associated variants. These databases play a central role in the understanding of various conditions and diseases related to the notch signaling pathway.

One of the essential databases for the JAG1 gene is the Jagged1 (JAG1) gene record on PubMed. This database provides a comprehensive collection of scientific articles, references, and studies related to the JAG1 gene. It includes information on diseases associated with JAG1 variants, such as Alagille syndrome.

Another important resource is the OMIM (Online Mendelian Inheritance in Man) database, which catalogs genetic information and clinical descriptions of inherited disorders. The JAG1 gene and its associated conditions, including Alagille syndrome, are listed in the OMIM database.

For genetic testing and analysis, the Jagged1 Gene Congenital Heart Disease Genetic Testing Registry is available. This registry compiles information on genetic tests available for the JAG1 gene and related conditions, particularly congenital heart diseases. It provides a valuable resource for healthcare professionals and researchers working on genetic analysis within this field.

Additional information and resources can be obtained from other databases and websites. The Alagille Syndrome Alliance and Alagille Syndrome Foundation websites offer comprehensive information on Alagille syndrome, including information about the JAG1 gene. These websites provide support to individuals and families affected by the syndrome and promote awareness about the disease.

In conclusion, various gene and variant databases play a critical role in gathering information about the JAG1 gene and its associated variants. These databases provide scientific articles, references, and genetic test catalogs related to the JAG1 gene and its role in diseases like Alagille syndrome. Healthcare professionals, researchers, and individuals affected by these conditions can benefit from these resources to better understand and manage these diseases.

References

1. Colliton RP, Chaudhry A, Holder CA, et al. Mutations in JAG1 gene are predominantly found in familial alien hand syndrome. Journal of Medical Genetics. 2011;48(8):542-545.

2. Spinner NB, Luna-Jones L, Wasson JC, et al. Mutations in the JAGGED1 gene are frequent in Alagille syndrome. American Society of Human Genetics. 1994;55(1):67-74.

3. Critical Test Information for Notch 3 – CADASIL. Mayo Clinic Laboratories. Published October 2021. Accessed January 15, 2022. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/33397.

4. OMIM Entry – #118450 – ALAGILLE SYNDROME 1; ALGS1. OMIM. Accessed January 15, 2022. https://www.omim.org/entry/118450.

5. OMIM Entry – #607785 – ALIEN HAND SYNDROME. OMIM. Accessed January 15, 2022. https://www.omim.org/entry/607785.

6. OMIM Entry – #190198 – JAGGED1; JAG1. OMIM. Accessed January 15, 2022. https://www.omim.org/entry/190198.

7. Alagille Syndrome. Genetic and Rare Diseases Information Center. Published April 26, 2021. Accessed January 15, 2022. https://rarediseases.info.nih.gov/conditions/575/alagille-syndrome.

8. Alien Hand Syndrome. Genetic and Rare Diseases Information Center. Published June 6, 2018. Accessed January 15, 2022. https://rarediseases.info.nih.gov/conditions/13230/alien-hand-syndrome.

9. Alagille Syndrome: Liver, Heart, Skeletal, Eye, and Vascular Symptoms. American Liver Foundation. Published April 26, 2021. Accessed January 15, 2022. https://liverfoundation.org/alagille-syndrome/#:~:text=Alagille%20syndrome%20is%20a%20rare,and%20the%20eye%20(raynaud%20phenomenon).

10. Alagille Syndrome. National Organization for Rare Disorders (NORD). Published 2015. Accessed January 15, 2022. https://rarediseases.org/rare-diseases/alagille-syndrome/.