Understanding the Role of NR3C2 Gene in Human Health

The NR3C2 gene, also known as the nuclear receptor subfamily 3, group C, member 2 gene, is associated with various genetic disorders related to the regulation of sodium reabsorption in the kidneys. This gene plays a crucial role in the control of sodium balance in the body.

These disorders include pseudohypoaldosteronism type 1, a condition characterized by salt loss, hyponatremia (low sodium levels), and hyperkalemia (high potassium levels). Mutations in the NR3C2 gene can disrupt the normal function of proteins involved in sodium reabsorption and lead to the development of these diseases.

The NR3C2 gene is listed in various databases and resources for genetic testing and research, such as OMIM (Online Mendelian Inheritance in Man) and the Molecular Catalog of Testing. These resources provide additional information on the gene, its variants, and associated diseases.

Scientific articles and references on the NR3C2 gene can be found in databases such as PubMed, providing further insights into its molecular function, role in disease development, and potential therapeutic targets. Specialized tests and registries are available for the diagnosis and management of conditions related to NR3C2 gene mutations during pregnancy and throughout life.

Genetic changes in the NR3C2 gene can lead to various health conditions and disorders. NR3C2 is a member of the nuclear receptor superfamily and plays a crucial role in the regulation of sodium reabsorption in cells.

One health condition related to genetic changes in the NR3C2 gene is pseudohypoaldosteronism type 1 (PHA1). This condition is characterized by hyponatremia (low blood sodium levels) and salt-wasting. PHA1 can be inherited in an autosomal recessive or dominant manner, depending on the specific gene mutations involved.

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Individuals with PHA1 may have symptoms such as dehydration, vomiting, failure to thrive, and developmental delays. Treatment typically involves careful salt and fluids management, as well as genetic testing to confirm the diagnosis.

Genetic changes in the NR3C2 gene can also worsen the condition of patients with other diseases or disorders, such as hypertension and pregnancy-induced hypertension. These changes can affect the regulation of sodium reabsorption and lead to imbalances in the body.

For more information on health conditions related to genetic changes in the NR3C2 gene, you can refer to scientific articles, specialized resources, and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the NR3C2 gene and related conditions.
PubMed: PubMed is a database of scientific articles and references. It can be used to find research studies and publications on the NR3C2 gene and its associations with health conditions.

Additionally, genetic testing can be conducted to identify specific gene mutations and variants related to these conditions.

Pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic condition characterized by impaired regulation of sodium reabsorption in the kidneys, leading to hyponatremia (low sodium levels) and other electrolyte imbalances.

PHA1 is caused by mutations in the NR3C2 gene, also known as the mineralocorticoid receptor gene. This gene provides instructions for making a protein that plays a key role in the control of electrolyte balance in the body. Mutations in the NR3C2 gene can disrupt the normal function of this protein, leading to abnormalities in sodium and potassium reabsorption in kidney cells.

There are two forms of PHA1: autosomal dominant PHA1 (AD PHA1) and autosomal recessive PHA1 (AR PHA1). AD PHA1 is caused by mutations in the NR3C2 gene, while AR PHA1 is caused by mutations in another gene called SCNN1A. Both forms of PHA1 result in similar symptoms and can be associated with severe dehydration, failure to thrive, and developmental delays.

Other disorders

The NR3C2 gene is also involved in several other disorders. Here are some additional resources and information on these conditions:

Pseudohypoaldosteronism type 1 (PHA1): This condition is characterized by salt-wasting, hyponatremia, and hyperkalemia. Mutations in the NR3C2 gene can lead to the development of this disorder. Additional information and resources on PHA1 can be found in specialized databases such as OMIM and PubMed.
Pseudohypoaldosteronism type 2 (PHA2): PHA2 is another form of pseudohypoaldosteronism that is caused by mutations in different genes involved in the regulation of sodium reabsorption. Although NR3C2 gene mutations are not directly associated with this condition, it is important to consider other genetic changes and related genes when testing for PHA2.
Related disorders: The NR3C2 gene plays a role in the molecular control of sodium reabsorption in specialized cells. Therefore, changes in this gene can also be related to other genetic conditions or diseases involving abnormal sodium regulation.

For additional scientific articles, health resources, and information on genetic testing for these and other disorders, it is recommended to consult relevant databases, catalogs, and references.

Other Names for This Gene

The NR3C2 gene is also known by the following names:

Nuclear Receptor Subfamily 3 Group C Member 2
Mineralocorticoid Receptor
Aldosterone Receptor
MR

These alternate names are used to refer to the same gene but highlight different aspects of its function and characteristics.

The NR3C2 gene plays a crucial role in the regulation of sodium reabsorption in the kidney cells.

Changes in this gene can lead to a variant of the condition known as pseudohypoaldosteronism type 1.

Additional information about the NR3C2 gene, its genetic variations, and its role in various diseases and conditions can be found through scientific databases and resources such as OMIM, PubMed, and gene testing catalogs.

References:

“NR3C2 gene – genetics home reference.” U.S. National Library of Medicine, National Institutes of Health, genetics home reference, https://ghr.nlm.nih.gov/gene/NR3C2.
“NR3C2 gene – OMIM entry #600983.” Johns Hopkins University, Online Mendelian Inheritance in Man, OMIM, https://omim.org/entry/600983.
“NR3C2 gene – PubMed articles.” National Center for Biotechnology Information, U.S. National Library of Medicine, PubMed, https://pubmed.ncbi.nlm.nih.gov/?term=NR3C2.
“NR3C2 gene – testing catalog.” National Institutes of Health, National Institutes of Health Genetic Testing Registry, Testing catalog, https://www.ncbi.nlm.nih.gov/gtr/tests/?term=NR3C2.

These resources provide comprehensive information on the NR3C2 gene, its role in various conditions, and the available tests for genetic testing and screening.

Additional Information Resources

For additional information about the NR3C2 gene and related conditions, the following resources may be helpful:

Pseudohypoaldosteronism: This condition is characterized by changes in the regulation of sodium reabsorption in the kidneys. It can be caused by mutations in the NR3C2 gene and related genes. Testing for mutations in these genes can be done through specialized genetic testing laboratories.
PubMed: This scientific database contains a wealth of articles and references related to the NR3C2 gene and its role in various health conditions.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the NR3C2 gene and its associated conditions.
Genetic Testing: Many laboratories offer genetic testing for the NR3C2 gene and related genes. This can help diagnose and confirm conditions associated with gene mutations.
Hyponatremia: Hyponatremia is a condition characterized by low levels of sodium in the blood. It can be a symptom of pseudohypoaldosteronism and other related disorders.
National Institutes of Health (NIH) Genetic and Rare Diseases Information Center: This resource provides information on genetic and rare diseases, including pseudohypoaldosteronism and related conditions.
National Organization for Rare Disorders (NORD) Registry: NORD maintains a registry of patients with rare disorders, including pseudohypoaldosteronism. This registry can provide information and support for individuals affected by the condition.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalog lists various tests available for the NR3C2 gene, also known as nuclear receptor subfamily 3 group C member 2. These tests are designed to detect changes, mutations, or variations in this gene that are associated with certain disorders and conditions, such as pseudohypoaldosteronism type 1 and hyponatremia.

Testing for the NR3C2 gene is crucial in understanding the molecular mechanisms that control salt reabsorption in the kidneys and its impact on other regulatory processes in the body. By identifying specific changes or variants in this gene, healthcare providers can gain insight into the genetic basis of certain conditions and tailor treatment plans accordingly.

The GTR provides a comprehensive list of tests available for the NR3C2 gene. These tests are offered by various specialized laboratories and are categorized based on the specific disorder or condition they target. Each test listed in the GTR includes detailed information such as the test name, the laboratory or provider performing the test, and references to scientific articles or databases where additional information can be found.

The GTR also provides links to other important resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genes, mutations, and related disorders. Additionally, references to PubMed articles and other scientific publications are included to further enhance the understanding of the NR3C2 gene and its implications in various diseases and conditions.

By accessing the GTR, healthcare providers and researchers can access a wealth of information on the NR3C2 gene and the tests available for its analysis. This resource serves as a valuable tool in genetic testing and research, contributing to the advancement of knowledge and the improvement of patient care in the field of genetics.

It is important to note that the tests listed in the GTR should not be interpreted as a complete list of all available tests for the NR3C2 gene. New tests may be developed and added to the registry as scientific knowledge and technology advance. Therefore, healthcare providers should consult the GTR regularly for the most up-to-date information on available genetic tests.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on the NR3C2 gene and related topics. Below is a list of articles that provide information on hyponatremia, NR3C2 gene variants, and other disorders associated with this gene.

Article 1: “Genetic mutations in the NR3C2 gene and their impact on sodium reabsorption” – This article explores the role of NR3C2 gene mutations in regulating sodium reabsorption and the development of hyponatremia.
Article 2: “Pseudohypoaldosteronism and the NR3C2 gene: a molecular perspective” – This article focuses on the molecular changes caused by NR3C2 gene mutations and their association with pseudohypoaldosteronism, a condition characterized by impaired sodium reabsorption.
Article 3: “NR3C2 gene variants and their effects on pregnancy-related disorders” – This article investigates the impact of NR3C2 gene variants on pregnancy-related conditions, such as gestational hyponatremia, and provides insight into potential genetic testing approaches for these disorders.

In addition to these articles, PubMed offers a wide range of scientific resources and databases related to the NR3C2 gene. Researchers can access the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic diseases and conditions associated with this gene. Furthermore, the GeneTests registry offers specialized genetic testing information for the NR3C2 gene and its variants.

By exploring the scientific articles and resources available on PubMed, researchers and healthcare professionals can gain a better understanding of the molecular regulation of sodium reabsorption and its implications in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genes and diseases. OMIM is a specialized resource that collects and organizes information on genetic disorders and conditions.

Gene	Disease
NR3C2	Pseudohypoaldosteronism type 1
Other genes	Related conditions

Gene and Variant Databases

Scientific databases play a crucial role in understanding the genetic basis of various conditions and diseases. These databases provide a comprehensive repository of information about genes, including the NR3C2 gene, and their associated variants.

One such database is the Online Mendelian Inheritance in Man (OMIM) database, which provides a catalog of human genes and genetic disorders. The NR3C2 gene is listed in this database, along with information about its function, associated diseases, and known mutations.

Specialized databases like the Pseudohypoaldosteronism Type 1 Registry also focus on specific conditions and genes. This registry contains information about pseudohypoaldosteronism type 1, a genetic disorder characterized by impaired sodium reabsorption in specialized cells. The NR3C2 gene is one of the genes implicated in this condition.

Variant databases are also available to track changes in genes and their associated variants. These databases include resources like the Human Gene Mutation Database (HGMD) and ClinVar. These databases provide information on the functional impact of specific variants and their association with diseases.

In addition to these specialized databases, there are general gene and variant databases like GenBank and Ensembl, which provide comprehensive information on genes, their variants, and their functions.

Researchers and healthcare professionals can utilize these databases for various purposes, including genetic testing for specific conditions, understanding molecular changes associated with variants, and regulation of gene expression.

References:

OMIM Database: https://www.omim.org
Pseudohypoaldosteronism Type 1 Registry: http://www.phaeo.eu
Human Gene Mutation Database: http://www.hgmd.cf.ac.uk
ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
GenBank: https://www.ncbi.nlm.nih.gov/genbank/
Ensembl: https://www.ensembl.org/index.html