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The SCNN1A gene is a genetic variant that is associated with a severe condition known as pseudohypoaldosteronism type 1. Pseudohypoaldosteronism type 1 is a group of rare genetic disorders that are characterized by elevated fluid and salt reabsorption in the epithelial cells of the kidneys. This condition can result in severe salt wasting and dehydration.

The SCNN1A gene is one of the nonvoltage-gated subunits of the amiloride-sensitive sodium channels. These channels play a crucial role in regulating sodium reabsorption in the kidneys. Mutations in the SCNN1A gene lead to changes in the structure and function of the amiloride-sensitive sodium channels, disrupting the normal fluid and electrolyte balance in the body.

Scientific articles and references for the SCNN1A gene can be found in databases such as PubMed and OMIM. These resources provide additional information on the genetic changes associated with pseudohypoaldosteronism type 1 and other related conditions. Genetic testing can be done to identify mutations in the SCNN1A gene, allowing for an accurate diagnosis of the condition.

The SCNN1A gene is listed in the OMIM catalog under the pseudohypoaldosteronism type 1 entry. The registry for this condition provides information and resources for individuals and families affected by this genetic variant. In addition to the SCNN1A gene, other genes and subunits related to pseudohypoaldosteronism type 1 are also listed, allowing for a comprehensive understanding of the condition and its genetic basis.

Genetic changes in the SCNN1A gene can lead to various health conditions. These changes can be identified through genetic testing. Some of the conditions associated with genetic changes in the SCNN1A gene include:

  • Pseudohypoaldosteronism type 1
  • Elevated fibrosis
  • Severe fluid reabsorption disorder
  • Pseudohypoaldosteronism

Scientific articles and references from PubMed, OMIM, and other sources provide additional information about the health conditions related to genetic changes in the SCNN1A gene.

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Genetic changes in the SCNN1A gene can affect the function of amiloride-sensitive epithelial sodium channels. These channels are nonvoltage-gated and play a crucial role in sodium reabsorption. Alterations in the SCNN1A gene can lead to abnormal sodium reabsorption and result in various disorders and conditions.

Genetic testing is essential for accurate diagnosis and identification of these conditions. The genetic changes in the SCNN1A gene can be cataloged and named for easy reference in databases and registries.

Resources for Health Conditions Related to Genetic Changes:

  • PubMed: Provides scientific articles and references on genetic changes and related health conditions
  • OMIM: Offers comprehensive information about various diseases, including those related to genetic changes in the SCNN1A gene
  • Genetic Testing Catalog: Lists genetic tests available for SCNN1A gene and related genes

Genetic changes in the SCNN1A gene are of significant importance in understanding the pathogenesis of pseudohypoaldosteronism type 1 and other related disorders. Further research and studies are required to explore the underlying mechanisms and develop effective treatment options.

Pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 is a genetic condition caused by variants in the SCNN1A gene. This gene encodes for the nonvoltage-gated sodium channels, specifically subunits α, β, and γ. These channels are responsible for sodium reabsorption in epithelial cells.

Severe salt-losing conditions and elevated potassium levels are observed in individuals with pseudohypoaldosteronism type 1. This condition can lead to dehydration, poor growth, and low blood pressure. It is also associated with other diseases, such as cystic fibrosis and central salt-wasting syndrome.

See also  PCCB gene

Testing for SCNN1A gene variants can be done through genetic tests. These tests can identify changes in the gene and provide information related to the condition. Scientific articles and databases, such as PubMed and OMIM, are valuable resources for additional information and references.

Without genetic testing, pseudohypoaldosteronism type 1 can be diagnosed based on clinical symptoms and biochemical tests. Amiloride-sensitive epithelial sodium channels can be measured to confirm the diagnosis. A patient registry is available to centralize information on individuals with this condition.

In summary, pseudohypoaldosteronism type 1 is a genetic condition caused by variants in the SCNN1A gene. It leads to severe salt-losing conditions and is associated with other diseases. Genetic testing and clinical evaluations are important for diagnosis and management of this condition.

Other disorders

SCNN1A gene mutations have been associated with several other disorders and conditions.

  • Pseudohypoaldosteronism type 1 (PHA1) – This is a rare genetic disorder characterized by salt wasting and elevated potassium levels in the blood. The SCNN1A gene mutations lead to impaired sodium reabsorption in the kidney, resulting in the symptoms of PHA1. Testing for SCNN1A mutations can be helpful in diagnosing this condition.
  • Cystic fibrosis – Although not directly related to SCNN1A gene mutations, cystic fibrosis is a genetic disorder that also affects the function of ion channels, including those that transport sodium and chloride in the lungs. SCNN1A gene mutations can result in changes in the function or expression of these channels, contributing to the development or severity of cystic fibrosis.
  • Central fluid reabsorption without elevated sweat sodium – This is a condition characterized by impaired fluid reabsorption in the kidneys without the characteristic elevated sweat sodium levels seen in cystic fibrosis. It has been associated with SCNN1A gene mutations.

Additional information on these disorders and related conditions can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources list the names of genes, genetic tests, and other relevant information for further investigation.

Other Names for This Gene

The SCNN1A gene is also known by other names, including:

  • Amiloride-sensitive sodium channel subunit alpha
  • Amiloride-sensitive sodium channel subunit alpha, peripheral type
  • Alpha-Na channel
  • Alpha-Na subunit
  • ENaC
  • Epilepsy, severe, with migration abnormalities
  • Gell in Gel Syndrome
  • SCNN1
  • Sodium channel nonvoltage-gated 1 alpha subunit
  • Sodium channel, nonvoltage-gated 1 alpha subunit

These names reflect the genetic function and characteristics of the SCNN1A gene and its involvement in various genetic conditions and disorders.

For additional scientific information about this gene, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man) catalog, PubMed, and related scientific articles and references. These databases provide further information on the gene, its variants, and their association with different genetic conditions.

In particular, the SCNN1A gene is associated with disorders such as pseudohypoaldosteronism type 1, central and peripheral genetic disorders of sodium reabsorption in epithelial cells, and other conditions characterized by changes in fluid and electrolyte balance.

Genetic testing for SCNN1A gene mutations can be helpful in diagnosing these disorders, as well as providing information for appropriate medical management and treatment.

If you suspect you or someone you know may have a genetic condition related to the SCNN1A gene, it is recommended to consult with a healthcare professional who specializes in genetic counseling and testing.

Additional Information Resources

  • Tests: Different tests can be conducted to determine the presence of variant SCNN1A gene. These tests include genetic testing, amiloride-sensitive epithelial sodium channel (ENaC) testing, and more.
  • Registry: The SCNN1A gene is listed in various registries and databases that provide information about genetic conditions and related disorders.
  • OMIM: The SCNN1A gene is also listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information about genes, genetic conditions, and related diseases.
  • PubMed: PubMed is a database of scientific articles and references. It can be used to find articles related to SCNN1A gene, pseudohypoaldosteronism, and other related topics.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases provides information about genetic changes and their association with diseases, including SCNN1A gene-related conditions.
  • Health and Disease Websites: Various health and disease websites provide information about SCNN1A gene, pseudohypoaldosteronism, and related conditions. These websites can be useful sources of additional information.
See also  NSD2 gene

Tests Listed in the Genetic Testing Registry

The SCNN1A gene is associated with a variety of genetic disorders and diseases. Genetic testing can help identify changes and variants in this gene, providing valuable information about an individual’s health and potential risks for certain conditions.

Tests listed in the Genetic Testing Registry provide a comprehensive catalog of available genetic tests for SCNN1A and related genes. These tests can be used to diagnose various disorders and conditions, such as pseudohypoaldosteronism type 1, amiloride-sensitive epilepsy, and other forms of severe epithelial sodium channel-related diseases.

Genetic testing for SCNN1A and its subunits can help determine the genetic cause of disorders that affect fluid and salt reabsorption in the body. By identifying changes in the SCNN1A gene and related subunits, healthcare providers can better understand the underlying genetic factors contributing to these conditions.

These tests can be useful for individuals with a family history of pseudohypoaldosteronism or other related conditions. By identifying genetic variants and changes, healthcare providers can offer targeted treatment options and genetic counseling to individuals and their families.

Additional information on each test, including test names and references, can be found in the Genetic Testing Registry. This registry serves as a valuable resource for healthcare providers and researchers in accessing up-to-date information on genetic tests.

For more information on SCNN1A genetic testing and related resources, you can refer to the PubMed database and OMIM database. These resources provide access to scientific articles and reference materials that can further enhance understanding of SCNN1A genes and their role in various disorders and diseases.

Tests listed in the Genetic Testing Registry:
Test Name Condition
SCNN1A gene variant analysis Severe pseudohypoaldosteronism type 1
SCNN1A gene sequencing Amiloride-sensitive epilepsy
SCNN1A gene deletion/duplication analysis Other forms of severe epithelial sodium channel-related diseases
SCNN1A subunit analysis Fluid and salt reabsorption disorders

These are just a few examples of the tests available in the Genetic Testing Registry for SCNN1A and related genes. For a full list of tests and more information, refer to the registry.

Scientific Articles on PubMed

When researching the SCNN1A gene, it is important to gather information from reliable and reputable resources. One such resource is PubMed, a database that provides access to a vast collection of scientific articles.

PubMed contains articles on a wide range of topics, including the SCNN1A gene and its related conditions. These articles cover various aspects such as genetic testing, pseudohypoaldosteronism, and other health-related channels. They provide valuable insights into the genetic variant of the SCNN1A gene and its role in elevated amiloride-sensitive pseudohypoaldosteronism.

In addition to the SCNN1A gene, PubMed also offers articles on other genes and their associated disorders. It serves as a comprehensive catalog of scientific information and references, allowing researchers and healthcare professionals to stay up-to-date with the latest findings.

By searching PubMed, one can find articles that discuss the SCNN1A gene’s involvement in conditions such as cystic fibrosis and central reabsorption. These articles provide valuable insights into the genetic changes associated with these diseases.

It is worth noting that PubMed is not the only database that provides information on the SCNN1A gene and related conditions. Other genetic databases, such as OMIM, also list additional articles and resources for further exploration.

See also  PCCA gene

Overall, PubMed is an invaluable resource for anyone interested in studying the SCNN1A gene and its role in various diseases and conditions. It offers a wealth of scientific articles that provide essential information on the genetics, testing, and severe genetic disorders associated with this gene.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative resource that catalogues genes and genetic disorders. It provides a wealth of information about various genetic conditions, including those related to the SCNN1A gene.

Genes Listed:

OMIM contains information on a wide range of genes, including the SCNN1A gene. The SCNN1A gene is responsible for encoding the alpha subunit of the amiloride-sensitive sodium channel. Changes in this gene can lead to pseudohypoaldosteronism type 1.

Diseases Listed:

OMIM includes a registry of genetic conditions caused by mutations in various genes, such as the SCNN1A gene. One of the conditions associated with SCNN1A mutations is pseudohypoaldosteronism type 1, a rare disorder characterized by elevated sodium reabsorption in the kidney and increased fluid absorption in other epithelial tissues.

Resources and Databases:

  • OMIM provides comprehensive information on genes and genetic disorders.
  • It includes references to scientific articles, testing resources, and related databases.
  • OMIM also provides links to PubMed articles related to specific genes and diseases.

Additional Information:

For additional information on the SCNN1A gene and related genetic disorders, it is recommended to consult the OMIM catalog, which contains detailed information, references, and resources pertaining to this gene and its associated conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for understanding the SCNN1A gene and its associated variants. These databases compile information about genes, genetic variants, and their relationships to various diseases and conditions.

One of the most important aspects of gene and variant databases is their cataloging of different subunits of the SCNN1A gene. This gene encodes for the alpha subunit of the amiloride-sensitive sodium channels, which play a crucial role in the reabsorption of fluid and electrolytes in epithelial cells.

These databases provide detailed information about the specific genetic changes that can occur in the SCNN1A gene and their impact on the function of the sodium channels. They also list the various genetic variants associated with conditions such as pseudohypoaldosteronism type 1 and cystic fibrosis.

Gene and variant databases are particularly useful for researchers and healthcare professionals involved in genetic testing and the diagnosis of severe and nonvoltage-gated channel diseases. They provide a centralized and comprehensive collection of genetic information, allowing for easier identification and interpretation of genetic variants and their implications.

Some of the most popular gene and variant databases include OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide references to scientific articles and resources related to the SCNN1A gene and its associated variants. They also list other related genes and genetic disorders that may be of interest to researchers and healthcare professionals.

In addition to gene and variant databases, there are also specific databases and registries dedicated to pseudohypoaldosteronism type 1 and related conditions. These resources provide a wealth of information about the genetic variants, clinical presentations, and treatment options for these conditions.

Overall, gene and variant databases are vital resources for understanding the SCNN1A gene and its associated variants. They provide a centralized catalog of genetic information, aiding in the diagnosis and treatment of various genetic disorders.

References

  • Genetic Disorders

    • SCNN1A gene

    • Pseudohypoaldosteronism type 1

  • Databases and Registries

    • Genes and Disease

    • NCBI Gene

    • Online Mendelian Inheritance in Man (OMIM)

  • Scientific Articles and Publications

    • PubMed

    • Journal of the American Society of Nephrology

    • Pediatric Nephrology

  • Other Resources and Related Conditions

    • National Organization for Rare Disorders (NORD)

    • Pseudohypoaldosteronism Registry

  • Testing and Genetic Services

    • GeneTests Laboratory Directory

    • Genetic Testing Registry (GTR)

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