The HJV gene, also known as hemojuvelin gene (HFE2), is a key gene involved in the regulation of iron homeostasis. Mutations in this gene can lead to various hereditary hemochromatosis conditions, characterized by excessive iron accumulation in the body.

Juvenile hemochromatosis is one of the most severe forms of hereditary hemochromatosis, caused by mutations in the HJV gene. It is characterized by iron overload starting from an early age, resulting in damage to various organs and health complications. The HJV gene plays a crucial role in the regulation of iron absorption and metabolism through its interaction with hepcidin, a hormone that regulates iron levels in the body.

Scientific research and genetic testing have provided valuable information on the HJV gene and its relation to hemochromatosis and other related diseases. The HJV gene is listed in various genetic databases and resources, such as OMIM, the official catalog of human genes and genetic disorders.

References to scientific articles, registry data, and genetic testing resources can be found for additional information on this gene and its role in various conditions. Changes in the HJV gene have been extensively studied in relation to hemochromatosis and its impact on iron regulation. Further research on the HJV gene and its related genes, such as the hepcidin gene, continue to advance our understanding of iron metabolism and associated disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the HJV gene, also known as hemojuvelin gene (HFE2), have been linked to several health conditions. These changes can affect the production or function of the hemojuvelin protein, leading to various disorders related to iron metabolism.

• Juvenile Hemochromatosis: Mutations in the HJV gene can cause juvenile hemochromatosis, a rare autosomal recessive disorder characterized by excessive iron absorption. This condition can lead to iron overload in various organs and tissues.
• Hemochromatosis Testing: Genetic testing for mutations in the HJV gene can help diagnose juvenile hemochromatosis. Testing can be done through laboratories that offer genetic testing services.
• Levels of Information: Information on genetic changes in the HJV gene can be found in various databases and resources, such as Online Mendelian Inheritance in Man (OMIM) and PubMed.
• Related Genes: Other genes involved in iron metabolism, such as the HFE gene and the TF gene, are also related to hemochromatosis and can be tested for in individuals suspected of having iron overload disorders.

The following resources can provide additional information on genetic changes and health conditions related to the HJV gene:

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1. OMIM: An online catalog of human genes and genetic disorders, with references to scientific articles.
2. PubMed: A database of scientific articles, providing information on the latest research and medical findings.
3. HFE2 Registry: A registry for individuals with hereditary hemochromatosis caused by HJV gene mutations, providing support and resources for patients and their families.
4. Genetic Testing: Laboratories offering genetic testing services for HJV gene mutations and other related genes.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, interpretation of genetic testing results, and guidance on managing health conditions related to genetic changes in the HJV gene.

Hereditary hemochromatosis

Hereditary hemochromatosis is a genetic disorder that causes the body to absorb too much iron from the diet. This excess iron builds up in various organs and tissues, which can lead to organ damage and other health problems.

One of the key genes associated with hereditary hemochromatosis is the HJV gene, also known as the hemojuvelin gene. This gene is involved in the regulation of iron levels in the body. Mutations in the HJV gene can disrupt this regulation, leading to excessive iron absorption and the development of hemochromatosis.

There are several subtypes of hereditary hemochromatosis, including juvenile hemochromatosis which typically manifests earlier in life. Additional genes such as HFE2 and hepcidin have also been implicated in the development of this condition.

If you are looking for more information on hereditary hemochromatosis, the OMIM database and PubMed are valuable resources. They contain scientific articles, references, and other genetic databases where you can find information on the HJV gene and related conditions. Testing for mutations in the HJV gene can be done through genetic testing laboratories listed on the OMIM database or by specialized health organizations.

It is important to note that hereditary hemochromatosis is only one of many conditions that can cause excess iron accumulation in the body. Changes in other genes and conditions, such as those listed in the OMIM database, can also lead to iron overload. Therefore, comprehensive testing is necessary to accurately diagnose and determine the underlying causes of iron overload.

In conclusion, hereditary hemochromatosis is a genetic disorder characterized by excessive iron absorption and accumulation in various organs. The HJV gene, along with other genes like HFE2, plays a critical role in iron regulation. Resources like PubMed, OMIM, and genetic testing laboratories can provide further information and testing options for individuals suspected of having this condition.

Other Names for This Gene

• Hereditary Hemochromatosis Type 2
• Juvenile Hemochromatosis, HJV-Related
• Hemojuvelin-Related Hemochromatosis
• HFE2

The HJV gene, also known as Hereditary Hemochromatosis Type 2 or Juvenile Hemochromatosis, HJV-Related, is a gene that is associated with several conditions related to iron metabolism disorders. This gene is listed in various databases and resources that provide information on genetic testing, diseases, and related genes.

One of the main sources of information on this gene is PubMed, a database of scientific articles and references. PubMed provides articles on various aspects of the HJV gene, including its role in iron metabolism and its association with hemochromatosis. It also provides additional information on related genes and conditions.

Another resource that provides information on the HJV gene is OMIM, the Online Mendelian Inheritance in Man catalog. OMIM provides detailed information on various genetic diseases, including hemochromatosis and hemojuvelin-related hemochromatosis. It also lists the HJV gene and its related genes, along with the changes and variations that have been identified in these genes.

Other databases and registries that provide information on the HJV gene include the Genetic Testing Registry and the Hemochromatosis Registry. These resources provide information on genetic tests for the HJV gene and related genes, as well as information on the prevalence and clinical presentation of hemochromatosis.

In summary, the HJV gene, also known as HFE2, is associated with several conditions related to iron metabolism disorders. It is listed in various databases and resources that provide information on genetic testing, diseases, and related genes. These resources include PubMed, OMIM, the Genetic Testing Registry, and the Hemochromatosis Registry.

Additional Information Resources

• Genetic Testing: For additional information on genetic testing for the HJV gene and other related genes, refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man: A catalog of human genes and genetic disorders. It provides extensive information on the HJV gene and its related diseases.
    Reference: OMIM – HJV gene
  • HFE2 Gene – Genetic Testing Registry: This registry provides a list of genetic tests available for the HFE2 gene. It includes information on testing methods and conditions.
    Reference: Genetic Testing Registry – HFE2 Gene

• Scientific Articles: Several scientific articles have been published on the HJV gene and related topics. PubMed is a valuable resource for finding these articles.

  Reference: PubMed – HJV gene

• References and Resources on Hepcidin: Hepcidin is a peptide hormone that plays a crucial role in iron metabolism. For more information on hepcidin and its relation to the HJV gene, the following references can be consulted:

  • Roetto et al. (2001) – Genetic abnormalities of the HJV gene in patients with juvenile hemochromatosis. In: Blood.
  • Roetto et al. (2002) – Juvenile hemochromatosis locus maps to chromosome 1q. In: The American Journal of Human Genetics.

• Other Resources: In addition to the above-mentioned resources, the following databases and registries provide valuable information on the HJV gene and related conditions:

  • The Juvenile Hemochromatosis Registry: A registry for individuals diagnosed with juvenile hemochromatosis. It provides information on patient cases and research updates.
    Reference: Juvenile Hemochromatosis Registry
  • The Genes and Disease Database: A comprehensive database on genes and diseases. It includes details on the HJV gene and related diseases.
    Reference: Genes and Disease Database – HJV gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized database that provides a catalog of genetic tests for various diseases and conditions. This resource includes tests on genes such as HJV (hemochromatosis type 2, also known as HFE2), which plays a crucial role in the regulation of iron levels in the body.

Genetic tests for the HJV gene are used to identify changes or variants in the gene that may be associated with hereditary hemochromatosis, a condition characterized by excess iron absorption and accumulation in various organs. These tests can provide valuable information for the diagnosis and management of individuals with this condition.

In addition to HJV, the GTR also lists other genes related to hemochromatosis, including HFE, hepcidin (HAMP), and others. These genes are involved in the regulation of iron metabolism and are associated with different forms of the disease.

The GTR provides information on the different tests available for each gene, including test names, test codes, and test types. It also includes references to scientific literature and resources from databases such as OMIM, PubMed, and Roetto. These references can be helpful for further exploration and understanding of the genes and their role in hemochromatosis.

By accessing the GTR, healthcare professionals and researchers can access a comprehensive catalog of genetic tests for various diseases and conditions. This resource facilitates the identification and selection of appropriate genetic tests based on the specific needs of patients or research projects.

In summary, the GTR is a valuable resource that provides information on genetic tests for the HJV gene and other related genes involved in hereditary hemochromatosis. It serves as a centralized catalog of tests and provides access to additional information and resources for further exploration in the field of genetic testing and related research.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the HJV gene and its association with diseases such as hemochromatosis. Here are some additional resources and information available on PubMed:

• Genetic Testing: PubMed provides information on genetic testing for HJV gene variants and their relevance to hereditary hemochromatosis.
• Scientific Articles: PubMed hosts a vast collection of scientific articles related to the HJV gene and its role in various diseases and conditions.
• Other Genes: PubMed also covers other genes associated with hemochromatosis, such as HFE2 (also known as Hemojuvelin) and HAMP (hepcidin).
• Registry Information: PubMed provides information on registries and databases that contain data on the HJV gene and related conditions.
• Health Changes: PubMed offers articles on the effects of changes in the HJV gene on the health of individuals, including the impact on organs and other bodily functions.
• Related Diseases: PubMed includes articles on diseases and conditions other than hemochromatosis that may be linked to the HJV gene.
• Testing and Diagnosis: PubMed provides references to articles that discuss testing and diagnostic methods for HJV gene variants.
• OMIM: PubMed references the Online Mendelian Inheritance in Man (OMIM) database, which contains information on the HJV gene and associated disorders.
• Scientific Names: PubMed lists the scientific names and aliases for the HJV gene, such as HFE2 and roetto gene.

These resources and articles on PubMed offer valuable information and research on the HJV gene and its implications for various diseases and conditions. They can serve as a useful reference for scientists, researchers, and healthcare professionals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and related genes. It is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic research and health.

The OMIM catalog contains a vast collection of genes and diseases, including the HJV gene. The HJV gene is also known as the hemojuvelin gene and is associated with juvenile hemochromatosis, a hereditary condition characterized by excessive iron levels in the body. Changes in the HJV gene can lead to disruptions in iron metabolism and the production of hepcidin, a hormone that regulates iron levels.

Within the OMIM catalog, the HJV gene is listed along with additional information such as gene variants, associated diseases, and references to scientific articles and resources. This allows researchers and healthcare professionals to access the latest information on the HJV gene and its role in juvenile hemochromatosis.

The OMIM catalog also provides resources for genetic testing and registries for individuals with genetic conditions. These resources can help individuals and their healthcare providers make informed decisions about genetic testing and management of genetic conditions.

By using the OMIM catalog, researchers and healthcare professionals can access a wealth of information on genes and diseases, including the HJV gene and its association with juvenile hemochromatosis. This information can contribute to a better understanding of genetic conditions and aid in the development of strategies for diagnosis, prevention, and treatment.

Gene and Variant Databases

There are several gene and variant databases available for researchers, clinicians, and individuals interested in the HJV gene and related variants. These databases serve as valuable resources for genetic testing, cataloging information, and obtaining additional scientific references.

• Hemochromatosis and Juvenile Hemochromatosis Gene and Variant Database: This database provides a comprehensive list of genes and variants associated with hereditary hemochromatosis, including the HJV gene. It offers information on genetic testing, clinical resources, and references to scientific articles.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogues information on genes, genetic conditions, and their associated variants. It includes a dedicated section for the HJV gene, which provides details on the gene’s function, related diseases, and known genetic changes.
• PubMed: PubMed is a widely used online database for accessing scientific literature. Researchers and clinicians can search for relevant articles on the HJV gene, hepcidin, and other related genes. The database contains references to studies investigating the role of these genes in various diseases and their impact on organ function.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests available for specific genes, including the HJV gene. It includes details on the purpose of the test, the laboratory offering the test, and the conditions for which the test is recommended.

These databases offer a wealth of information on the HJV gene and its variants. Researchers, clinicians, and individuals interested in genetic testing or studying hemochromatosis and related disorders can benefit from exploring these resources.

References

The following resources provide additional information on the HJV gene, hepcidin, and related topics:

• National Institutes of Health Genetic Testing Registry: Listed tests for the HJV gene

• Online Mendelian Inheritance in Man (OMIM): Information on the HJV gene and its variant genes, as well as associated diseases and conditions

• PubMed: Scientific articles on the HJV gene and its role in diseases and organ changes

• Hereditary Hemochromatosis Registry: Additional information on hereditary hemochromatosis and the HJV gene

• Catalog of Human Genetic Variation (HGVBase): Database of genetic variation in the HJV gene

For more information on genetic testing, diseases, and health conditions related to the HJV gene, we recommend consulting these references and articles.