The AVP gene, also known as the arginine vasopressin gene, encodes the arginine vasopressin hormone. This hormone plays a crucial role in regulating water balance in the body. It is produced by the neurohypophysis and acts on the kidney to reabsorb water and increase the concentration of urine.
Changes in the AVP gene can lead to various genetic conditions and diseases related to water balance and fluid intake. One such condition is neurohypophyseal diabetes insipidus, which is characterized by excessive fluid intake and the production of large amounts of dilute urine.
Scientists and researchers use various resources and databases to study the AVP gene and its variants. These databases provide information on the genetic sequence, coding, and function of the gene, as well as additional references and articles for further reading. Some databases that list information on the AVP gene include OMIM, Genetests, PubMed, and the Genetic Testing Registry.
Studying the AVP gene and its variants is crucial for the identification and understanding of genetic conditions and diseases. By investigating these genetic changes, researchers can develop diagnostic tests and treatments for individuals affected by these conditions. Furthermore, studying the AVP gene can also provide insights into other health-related conditions and diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the AVP gene can lead to various health conditions. These changes can be classified into two categories: dominant and recessive variants. Dominant variants have been listed in the Online Mendelian Inheritance in Man (OMIM) catalog, while recessive variants have been identified in scientific articles and databases.
One of the health conditions related to genetic changes in the AVP gene is neurohypophyseal diabetes insipidus (NDI). In NDI, the body is unable to properly reabsorb water, leading to excessive fluid intake and frequent urination. Mutations in the AVP gene can result in a deficiency or dysfunction of the antidiuretic hormone, causing NDI.
Additional health conditions related to genetic changes in other genes can also contribute to or interact with AVP gene variants. It is important to consider these potential genetic interactions when diagnosing and treating patients with related conditions.
Clinical testing is available to identify genetic changes in AVP and other genes associated with related health conditions. Genetic tests can provide valuable information for diagnosis, prognosis, and treatment planning. Several genetic testing laboratories and registries offer tests for AVP gene variants, along with information on associated health conditions.
References for additional information on AVP gene-related health conditions and genetic changes can be found in the scientific literature, such as PubMed. These articles provide detailed information on the genetics of related health conditions and the role of AVP gene variants.
Neurohypophyseal diabetes insipidus
Neurohypophyseal diabetes insipidus (NDI) is a rare genetic disorder that affects the ability of the kidneys to reabsorb water. This leads to excessive thirst and urination, as the body is unable to conserve fluid.
NDI is typically caused by mutations in the AVP gene, which codes for the arginine vasopressin hormone. This hormone is responsible for regulating water balance in the body. Mutations in the AVP gene can disrupt the production or function of this hormone, leading to NDI.
The symptoms of NDI usually appear in infancy or early childhood. Patients often have excessive fluid intake and frequent urination, which can lead to dehydration if not managed properly. Other signs of NDI include slow growth, fever, irritability, and constipation.
Diagnosis of NDI involves genetic testing to identify mutations in the AVP gene. This can be done through various resources, including scientific articles, databases, and genetic testing companies. Some of the databases and resources that provide information on the AVP gene and NDI include PubMed, OMIM, and the Genetic Testing Registry.
Treatment for NDI focuses on managing the symptoms and preventing dehydration. This involves increasing fluid intake and using medications to control urine output. Patients with NDI may require additional clinical interventions and monitoring to ensure their health and well-being.
Other Names for This Gene
The AVP gene is also known by other names. Some of the novel and additional names for this gene include:
- ADH
- ADH-NPI
- ADH-NPII
- AVP-NP
- AVRP
- Diabetes insipidus, neurohypophyseal
- Diabetes insipidus, neural
- DI, neurohypophyseal form
- DI, neurohypophyseal type
- DI, neural form
- DI, neural type
- DIR
These names are used to refer to the AVP gene in different scientific and medical contexts. They can be found in various resources, such as scientific articles, databases, and genetic testing resources.
For more information on other names and related genes, you can refer to the following resources:
- PubMed: The AVP gene and related genes have been extensively studied and documented in scientific articles. You can find more information by searching for the gene name in the PubMed database.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic conditions. The AVP gene and related conditions, such as diabetes insipidus, can be found in OMIM.
- ClinVar: ClinVar is a freely accessible database of genetic variants and their relationships to human health. It provides information on the clinical significance of genetic variants in the AVP gene and related diseases.
- GeneCards: GeneCards is a comprehensive database that provides information on genes, their functions, and associated diseases. It includes information on the AVP gene and related genes involved in water intake and fluid reabsorption.
- The Human Gene Mutation Database (HGMD): HGMD is a database of known germline mutations causing human genetic disease. It contains information on variants and changes in the AVP gene associated with various conditions.
These resources can provide further information on the AVP gene, its associated conditions, and genetic testing options.
Additional Information Resources
For more information on the AVP gene and its related conditions, the following resources can be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the AVP gene and its associated disorders.
- PubMed: PubMed is a database of scientific articles on various topics. Searching for “AVP gene” or related terms on PubMed can provide access to the latest research and findings.
- ClinGen: ClinGen is a resource for clinical genetics information. It offers curated data on genes and variants, including those related to AVP and neurohypophyseal disorders.
- Registry: Disease registries can be helpful for identification and tracking of patients with specific conditions. Check for any available registries related to AVP gene disorders or neurohypophyseal conditions.
- Additional Testing: If you suspect a genetic condition related to the AVP gene or neurohypophyseal disorders, consult with a healthcare professional. They may recommend additional genetic testing or specialized tests to confirm the diagnosis.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database of genetic tests and related information. This online resource catalogs the names of tests, genes, and other genetic conditions.
Genetic testing plays a significant role in the identification and diagnosis of various diseases, including diabetes. Such tests involve the analysis of genes and their coding for the presence of specific variants that may be associated with the disease.
When it comes to diabetes, one of the novel genetic tests listed in the GTR is the AVP gene test. This test is used to determine variants in the AVP gene, which is responsible for coding the neurohypophyseal hormone arginine vasopressin.
In individuals with diabetes insipidus, a condition characterized by the inability of the body to reabsorb water from the fluid intake, the AVP gene test can help identify genetic variants that contribute to the disease.
The GTR provides additional resources and references for further scientific and health-related articles on genetic testing and related diseases. These resources can be found through various databases such as PubMed and OMIM.
It is important to note that the GTR is continuously updated to include new tests, genes, and conditions. This ensures that healthcare professionals have access to the most up-to-date information and testing options for their patients.
| Test Name | Condition | Testing Method | Mode of Inheritance |
|---|---|---|---|
| AVP gene variant analysis | Diabetes insipidus | Gene sequencing | Autosomal dominant |
| AVP gene deletion/duplication analysis | Diabetes insipidus | Gene deletion/duplication testing | Autosomal dominant |
These are just a few examples of the tests listed in the GTR for the AVP gene and diabetes insipidus. Healthcare professionals and individuals seeking genetic testing for diabetes or related conditions can consult the GTR for more information and available testing options.
Overall, the GTR serves as a valuable resource for genetic testing information, helping healthcare professionals and researchers stay informed about the latest advancements in genetic testing and related diseases.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the AVP gene. The AVP gene, also known as the ADH gene, codes for arginine vasopressin, a hormone involved in fluid balance and the reabsorption of water from the kidneys. Mutations in this gene can lead to various diseases and conditions, such as diabetes insipidus, where the body is unable to properly regulate water intake and reabsorption.
By searching PubMed for “AVP gene” or “ADH gene”, researchers can find a wealth of information on this gene and its variants. The database provides access to thousands of scientific articles that cover topics such as the identification of novel genetic variants, the role of the AVP gene in other health conditions, and tests for genetic changes in the AVP gene.
In addition to scientific articles, PubMed also provides access to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which lists information on genes, genetic variants, and associated diseases. The ClinVar database is another useful resource available on PubMed, which catalogs genetic variants and their clinical significance.
When searching for scientific articles on PubMed, it is important to use additional keywords to narrow down the results. For example, adding terms like “neurohypophyseal” or “dominant genet” to the search can help find articles that specifically focus on the neurohypophyseal gene or dominant genetic variants of the AVP gene. Researchers can also include specific diseases or conditions, such as diabetes or fluid-related diseases, for more targeted results.
Overall, PubMed is an essential tool for researchers seeking scientific articles on the AVP gene. Its vast database provides a wealth of information on genetic variants, related diseases, and the role of the AVP gene in various health conditions. By utilizing PubMed, researchers can stay up to date with the latest scientific findings and contribute to the growing body of knowledge on the AVP gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a wealth of information on genetic conditions and their related genes.
OMIM references a wide range of resources, including scientific articles, databases, and other health-related registries. It offers detailed information on the identification of genes, their coding, and the changes associated with genetic conditions.
The catalog lists genes and diseases alphabetically, making it easy to locate information. When searching for a specific gene or disease, OMIM provides additional resources, such as related articles and testing resources.
One of the genes listed in OMIM is the AVP gene. This gene is responsible for coding the neurohypophyseal hormone arginine vasopressin (AVP), which plays a crucial role in water reabsorption and regulation of water intake. Mutations in the AVP gene can lead to conditions such as diabetes insipidus, a disorder characterized by excessive urination and thirst.
In OMIM, the AVP gene is also referred to as the ADH gene (antidiuretic hormone). OMIM provides information on both dominant and recessive variants of the gene and the associated diseases.
The catalog from OMIM serves as a valuable resource for clinicians, geneticists, and researchers. It offers a comprehensive overview of genes and diseases, allowing for better understanding and identification of genetic conditions. OMIM integrates information from various sources, including PubMed, to provide the most up-to-date and relevant information available.
In conclusion, the catalog of genes and diseases from OMIM is an essential tool in the field of genetic research and healthcare. Its comprehensive coverage and extensive references make it an invaluable resource for scientists and medical professionals.
Gene and Variant Databases
Identification and understanding of the genetics behind various diseases and conditions have become crucial in the field of healthcare. Gene and variant databases play a significant role in providing valuable information related to genes, variations, and their implications on human health.
When it comes to the study of AVP gene and its variants, there are several databases available that offer comprehensive resources and references. These databases help researchers and healthcare professionals in gaining insights into the coding changes, novel variants, and other genetic factors associated with AVP gene and related diseases.
One such database is PubMed, a widely used platform that provides access to a vast collection of scientific articles and references. PubMed serves as a valuable resource for studying genes and variants, including those related to AVP gene and its various implications.
Another important database to mention in the context of AVP gene is the Online Mendelian Inheritance in Man (OMIM). This comprehensive catalog lists genes associated with specific diseases, including AVP gene and its related conditions such as neurohypophyseal diabetes insipidus. OMIM provides detailed information on gene mutations, genetic testing, and additional references for further exploration.
In addition to PubMed and OMIM, there are other databases that focus on genetic research and provide resources for AVP gene and its variants. These include ClinVar, a database of clinical testing and variant interpretation, and the Genetests registry, which provides information on genetic testing options for various conditions.
Overall, gene and variant databases offer a wealth of information on the AVP gene and its associated conditions. By utilizing these resources, researchers and healthcare professionals can gain a deeper understanding of the genetic basis of diseases, leading to improved diagnosis, treatment, and management of patients.
References
- Genet. clin. testing for diabetes insipidus
- Novel mutations in the AVP gene
- Identification of a novel variant in the neurohypophyseal AVP gene
- OMIM database for genetic diseases
- Additional information on the AVP gene and its coding changes
- Scientific articles on genetic testing for diabetes insipidus
- Pubmed registry for water intake and reabsorb tests
- Related resources for health information on AVP gene