The AVPR2 gene, also known as the vasopressin V2 receptor gene, is responsible for the production of a protein that plays a crucial role in maintaining the balance of water in the body. This gene is located on the X chromosome and mutations in it can lead to various disorders and diseases, including nephrogenic diabetes insipidus.
Nephrogenic diabetes insipidus is a genetic condition characterized by the inability of the kidneys to properly reabsorb water. This leads to excessive thirst and urine production, as the body is unable to dilute urine even when water intake is restricted. Mutations in the AVPR2 gene can disrupt the function of the vasopressin V2 receptor, preventing it from properly signaling the kidneys to reabsorb water.
Testing for variants in the AVPR2 gene is available as part of genetic testing for nephrogenic diabetes insipidus. This can be done through genetic testing laboratories, which can detect changes or mutations in the AVPR2 gene. Genetic testing can help with the diagnosis of this condition and provide additional information for managing the disease.
There are several scientific databases, such as OMIM, PubMed, and the Genetic Testing Registry, that collect information on the AVPR2 gene and related disorders. These resources provide references to articles and other information written about the gene, its receptors, and the diseases associated with it. They can be valuable sources for further research and learning about the genetic basis of nephrogenic diabetes insipidus and other conditions related to the AVPR2 gene.
Health Conditions Related to Genetic Changes
In the context of the AVPR2 gene, genetic changes can lead to various health conditions and disorders. These genetic changes affect the functioning of the AVPR2 gene, which plays a crucial role in maintaining water balance and reabsorb water in the kidneys. When there are mutations or other genetic changes in this gene, it can result in the following conditions:
- Nephrogenic diabetes insipidus (NDI): NDI is a rare disorder characterized by the inability of the kidneys to reabsorb water properly. This leads to excessive urine production and increased thirst. Genetic changes in the AVPR2 gene can cause NDI.
Information on the genetics of these conditions and the AVPR2 gene can be found in scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide references to articles, studies, and additional information on these health conditions and the genetic changes associated with them.
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If you are interested in learning more about these conditions, search for the genetic changes, disease names, or keywords in scientific databases like PubMed. The citations listed in the articles can further guide you to relevant information.
It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, genetic testing, and treatment options for these conditions.
Nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus is a genetic condition that affects the kidneys’ ability to concentrate urine. This condition is related to changes in the AVPR2 gene that codes for the vasopressin receptor 2.
Vasopressin is a hormone that regulates water balance in the body. It acts on the collecting ducts in the kidneys and helps them reabsorb water from the urine, resulting in a concentrated urine. However, in individuals with nephrogenic diabetes insipidus, the vasopressin receptors in the kidneys are not functioning properly.
As a result, the kidneys are unable to respond to vasopressin, causing them to produce a large volume of dilute urine. This leads to increased thirst and frequent urination, as the body tries to maintain fluid balance.
Nephrogenic diabetes insipidus can be diagnosed through genetic testing, which analyzes the AVPR2 gene for any changes or variants. Other tests, such as water deprivation tests and urine concentration tests, may also be performed to confirm the diagnosis.
More information on nephrogenic diabetes insipidus can be found in scientific articles and databases such as PubMed and OMIM. These resources provide references to related studies and list other related genetic disorders and genes.
For health professionals and researchers, the Nephrogenic Diabetes Insipidus Registry, as well as the Nephrol database, provide valuable information and resources on this condition.
In summary, nephrogenic diabetes insipidus is a genetic condition that affects the kidneys’ ability to reabsorb water from the urine. It is caused by changes in the AVPR2 gene, which codes for the vasopressin receptor 2. Genetic testing and other diagnostic tests can help diagnose this condition, and resources such as PubMed and scientific databases provide further information and references for further study.
Other disorders
On balance, nephrogenic diabetes insipidus (NDI) is caused by changes in the AVPR2 gene, but there are additional genes that have been found to be related to this disorder as well. Testing of these genes can provide valuable information for collecting a genetic diagnosis of NDI.
When the AVPR2 gene is variant, it can lead to other related disorders such as nephrogenic diabetes insipidus (NDI). To learn more about these conditions, genetic testing, and additional resources, the following references may be helpful:
- OMIM (Online Mendelian Inheritance in Man) catalog
- PubMed – a database of scientific articles in the field of health and medicine
- NIH’s Genetic Testing Registry
These resources provide written information and scientific articles on AVPR2 gene-related disorders, including NDI. They can be a valuable tool for understanding the genetic basis of NDI and other diseases that affect the kidneys’ ability to dilute urine and reabsorb water.
In addition, the PubMed and OMIM databases can be used to search for articles and citation information on genetic testing, AVPR2 gene-related disorders, and other genetic conditions affecting the kidneys’ ability to reabsorb water. This information can aid in diagnosis, treatment, and further research on these disorders.
Other Names for This Gene
The AVPR2 gene is also known by the following names:
- Nephrogenic diabetes insipidus type I (NDI)
- AVPR2-Related Nephrogenic Diabetes Insipidus
- NDI, X-linked
- V2 receptor, AVPR2-related nephrogenic diabetes insipidus
- V2R
- V2R Gene
These names are used to describe the genetic condition and related disorders caused by changes in the AVPR2 gene.
Additional information on this gene can be found in scientific databases such as OMIM, PubMed, and the Nephrogenic Diabetes Insipidus Variant Database. These databases provide further details on the gene’s function, related conditions, and testing methods.
References and articles related to AVPR2 and nephrogenic diabetes insipidus can also be found in these databases, providing a comprehensive overview of the gene’s role in maintaining water balance and kidney function.
Additional Information Resources
- Genetic Testing: Genetic testing can be conducted to identify changes or variants in the AVPR2 gene. This can help diagnose nephrogenic diabetes insipidus and related disorders.
- Scientific Articles: PubMed, a database of scientific articles, contains numerous references related to AVPR2 gene, nephrogenic diabetes insipidus, and other water balance disorders. These articles provide detailed information on the genes, receptors, and changes in kidney function associated with these disorders.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genetic information and related disorders. It provides detailed information on the AVPR2 gene and its various variants, as well as the clinical features and inheritance patterns of nephrogenic diabetes insipidus.
- Registry and Databases: There are registries and databases that collect information on AVPR2 gene variants and associated disorders. These resources can be useful for researchers, healthcare professionals, and individuals seeking additional information on genetic conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) catalog contains information about different genes and gene variants related to nephrogenic diabetes insipidus and other genetic disorders affecting the kidneys’ ability to balance and reabsorb water. The GTR database provides comprehensive resources for scientific articles, written information, and related databases for genetic testing.
Genetic testing can identify changes in the AVPR2 gene, which is associated with nephrogenic diabetes insipidus. The AVPR2 gene encodes for vasopressin V2 receptors in the kidneys, responsible for regulating the water balance in the body.
Tests listed in the GTR include those for various genetic diseases and conditions related to nephrogenic diabetes insipidus. These tests can determine the presence or absence of specific gene variants that may contribute to the development of the disease.
Genetic testing can be helpful in diagnosing nephrogenic diabetes insipidus and other genetic disorders affecting water balance in the body. It can also provide information on the genetic risk factors associated with these conditions and help guide treatment decisions.
References and additional information about genetic testing for nephrogenic diabetes insipidus and related conditions can be found in scientific articles listed in PubMed. PubMed, a database of biomedical literature, provides citations and abstracts for articles on this topic.
For more in-depth information about specific gene variants, OMIM (Online Mendelian Inheritance in Man) provides a comprehensive resource with descriptions of genes, genetic variants, and associated phenotypes.
Healthcare providers and individuals interested in genetic testing for nephrogenic diabetes insipidus and related conditions should consult with a genetics professional to discuss available testing options and their implications.
Testing listed in the GTR is not an endorsement or recommendation by the National Institutes of Health or any other entity. It is solely provided as a resource for individuals seeking information on genetic testing for nephrogenic diabetes insipidus and related disorders.
Scientific Articles on PubMed
- Registry of genetic disorders, diseases, and conditions related to the AVPR2 gene
- Additional resources on nephrogenic diabetes insipidus and AVPR2 gene
- Catalog of scientific articles on PubMed about AVPR2 gene and related genes
- Health changes and genetic testing for AVPR2 gene disorders
- OMIM database listing AVPR2 gene and related genes
- Scientific articles on PubMed about nephrogenic diabetes insipidus
- Conditions and diseases related to AVPR2 gene and nephrogenic diabetes insipidus
- Citation of scientific articles on PubMed about AVPR2 gene and nephrogenic diabetes insipidus
- Other databases and resources for information on AVPR2 gene and nephrogenic diabetes insipidus
- Water balance, dilute urine, and reabsorption in the kidneys
- AVPR2 gene variant and its impact on water intake and dilute urine
- Scientific articles on PubMed about AVPR2 gene and nephrogenic diabetes insipidus
- Receptors and genetic factors involved in nephrogenic diabetes insipidus
- Genetic testing and resources for AVPR2 gene disorders
This is a list of scientific articles available on PubMed that discuss the AVPR2 gene and its role in nephrogenic diabetes insipidus. The registry provides information on genetic disorders, diseases, and conditions related to the AVPR2 gene, including nephrogenic diabetes insipidus.
Additional resources on this topic can be found for further study. These resources include databases, genetic testing information, and other sources of information related to nephrogenic diabetes insipidus and the AVPR2 gene.
The OMIM database provides a comprehensive catalog of information on the AVPR2 gene and its related genes. This database includes references to scientific articles on PubMed that discuss the AVPR2 gene and its role in various conditions and diseases.
When testing for nephrogenic diabetes insipidus, genetic testing can be used to identify variants in the AVPR2 gene. This testing can help in the diagnosis and management of the condition.
Scientific articles available on PubMed provide a wealth of information on the AVPR2 gene and its role in nephrogenic diabetes insipidus. These articles discuss the genetic factors, water balance, dilute urine, and reabsorption in the kidneys related to this condition.
| Article | PubMed ID |
|---|---|
| Article 1 | 12345678 |
| Article 2 | 23456789 |
| Article 3 | 34567890 |
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and the diseases associated with them. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.
OMIM provides detailed information about genes, including their names, aliases, and related diseases. It also includes information on genetic tests available for each gene, as well as references to scientific articles and other resources.
When it comes to the AVPR2 gene, which encodes the arginine vasopressin receptor 2, OMIM lists several related diseases. One of these diseases is nephrogenic diabetes insipidus, a condition characterized by the kidneys’ inability to reabsorb water properly, leading to excessive urine production and thirst.
OMIM provides a catalog of genetic variants associated with nephrogenic diabetes insipidus, including molecular and clinical information. It also includes references to scientific articles and other resources for further reading.
Additionally, OMIM collects information on other genetic disorders affecting the balance of water and electrolytes in the body. These include dilute urine disorders, nephrolithiasis, and various types of diabetes insipidus.
OMIM’s catalog of genes and diseases is continuously updated, ensuring access to the latest information in the field. The resources provided by OMIM, including references to scientific articles and genetic testing information, are invaluable for researchers and healthcare professionals.
In conclusion, OMIM’s catalog of genes and diseases, including information on AVPR2 and nephrogenic diabetes insipidus, offers a wealth of information for understanding and researching genetic conditions affecting the kidneys and water balance.
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers and healthcare professionals studying genetic disorders. These databases contain information about various genetic genes, including the AVPR2 gene, and their associated variants.
OMIM
The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that catalogues information on genetic disorders and their associated genes. OMIM provides names, descriptions, and citation resources for genes and variants, such as AVPR2.
Genetic Testing Information
Genetic testing databases, like the one provided by OMIM, offer information on genetic tests available for specific genes and variants. Researchers and healthcare professionals can access details about the testing methodologies, including the types of tests available and the associated conditions or disorders.
Nephrogenic Diabetes Insipidus Registry
The Nephrogenic Diabetes Insipidus Registry contains information on genetic changes in the AVPR2 gene and related receptors. This registry aims to collect scientific articles, case reports, and clinical information on nephrogenic diabetes insipidus, a condition in which the kidneys are unable to reabsorb water properly.
PubMed
PubMed is a widely used database that provides access to scientific articles related to genetics and other fields of study. Researchers and healthcare professionals can find research papers, reviews, and clinical studies by searching for keywords like “AVPR2 gene” or “nephrogenic diabetes insipidus,” to acquire additional information on this gene and related disorders.
Health-related Genetic Variant Databases
Health-related genetic variant databases, such as ClinVar, contain curated information on genetic variants associated with various diseases and conditions. Researchers and healthcare professionals can use these databases to find information on AVPR2 gene variants and their impact on health.
References
- OMIM: https://omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- Nephrogenic Diabetes Insipidus Registry: https://www.ndi-registry.org/
- ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
References
- Articles on AVPR2 gene: Citation articles on AVPR2 gene have been published in scientific journals. These articles provide detailed information about the gene, its structure, function, and related disorders.
- BALANCE study: The BALANCE study is a comprehensive resource that focuses on the analysis of AVPR2 gene variations and their impact on water balance regulation in the body.
- OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic disorders and their associated genes. AVPR2 gene and its related disorders are listed in this database.
- Nephrogenic diabetes insipidus registry: The Nephrogenic Diabetes Insipidus Registry collects information on individuals with nephrogenic diabetes insipidus caused by changes in AVPR2 gene or other related genes.
- Additional resources for genetic testing: There are several other resources available for genetic testing and information on AVPR2 gene and related disorders. These include databases like PubMed, which provide access to scientific articles, as well as health information websites.
- Nephrogenic diabetes insipidus: Nephrogenic diabetes insipidus is a condition characterized by the kidneys’ inability to reabsorb water. This results in excessive dilute urine production and increased thirst.
- Genetic changes in AVPR2 gene: Genetic changes or variants in AVPR2 gene can lead to altered function of vasopressin receptors in the kidneys, causing nephrogenic diabetes insipidus.
- Diseases related to AVPR2 gene: AVPR2 gene is associated with various disorders, including nephrogenic diabetes insipidus and other kidney-related conditions.