The SCNN1G gene, also known as the gamma subunit of the epithelial sodium channel gene, is one of the genes involved in pseudohypoaldosteronism type 1 (PHA1). SCNN1G is a gene that provides instructions for making a protein called the gamma subunit of the epithelial sodium channel (ENaC). This protein is one of the three subunits that make up the ENaC, which is responsible for controlling the reabsorption of sodium ions in the kidneys and other epithelial tissues of the body.
Mutations in the SCNN1G gene can lead to severe conditions such as pseudohypoaldosteronism type 1 and Liddle syndrome. Pseudohypoaldosteronism type 1 is a rare genetic disorder characterized by the inability of the kidneys to reabsorb sodium and chloride ions, resulting in low levels of sodium in the blood and high levels of potassium. Liddle syndrome is also a rare genetic disorder that causes high blood pressure and low levels of potassium in the blood.
Information on the SCNN1G gene and its variants can be found in various scientific databases and resources. The SCNN1G gene is listed on the OMIM database, a catalog of human genes and genetic disorders, where additional information and references can be found. PubMed, a database of scientific articles, also contains articles on the SCNN1G gene and its role in various diseases and conditions.
Testing for mutations in the SCNN1G gene can be done through genetic testing laboratories and clinics. These tests can provide valuable information for the diagnosis and management of individuals with genetic disorders related to the SCNN1G gene. The SCNN1G gene is also included in genetic testing panels for diseases and disorders that involve abnormal sodium reabsorption, such as pseudohypoaldosteronism type 1 and Liddle syndrome.
In conclusion, the SCNN1G gene plays a crucial role in the regulation of sodium reabsorption in the body. Mutations in this gene can lead to severe conditions such as pseudohypoaldosteronism type 1 and Liddle syndrome. Understanding the function and variants of the SCNN1G gene is important for the diagnosis and management of individuals with these genetic disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the SCNN1G gene can lead to various health conditions. Some of these conditions include:
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- Pseudohypoaldosteronism: This is a condition in which the body is unable to retain salt, resulting in low levels of sodium and high levels of potassium in the blood. Genetic changes in the SCNN1G gene can cause this condition.
- Liddle Syndrome: Another health condition related to genetic changes in the SCNN1G gene. It is a rare form of high blood pressure that is caused by increased sodium reabsorption in the kidneys.
- Severe Salt-Losing Tubulopathies: Genetic changes in the SCNN1G gene can lead to severe salt-losing tubulopathies, which are disorders characterized by the excessive loss of salt in the urine.
- Other Disorders: Genetic changes in the SCNN1G gene have also been associated with other disorders, such as elevated blood pressure and central salt-losing syndrome.
Diagnosing these conditions often involves genetic testing, which can identify changes or variants in the SCNN1G gene. Further testing may be required to confirm the diagnosis and classify the specific genetic change.
Scientific resources and databases, such as PubMed, OMIM, and ClinGen, provide additional information on genetic changes in the SCNN1G gene associated with these health conditions. The Online Mendelian Inheritance in Man (OMIM) database and the Clinical Genome Resource (ClinGen) registry are valuable sources of information for clinicians, researchers, and individuals seeking more information about these genetic changes and related health conditions.
References to scientific articles, genetic testing resources, and relevant databases can be found in these scientific resources, offering comprehensive and up-to-date information on the genetic changes in the SCNN1G gene and their association with various health conditions.
Liddle syndrome
Liddle syndrome is a severe genetic disorder caused by mutations in the SCNN1G gene. This gene is involved in the regulation of sodium reabsorption in the renal epithelial cells.
Liddle syndrome is characterized by the elevation of blood pressure and low levels of potassium in the body. It is often associated with other disorders such as pseudohypoaldosteronism type 1 and pseudohypoaldosteronism type 2.
To diagnose Liddle syndrome, additional tests can be performed, including genetic testing to identify mutations in the SCNN1G gene. Other tests may include clinical evaluations, measurement of plasma aldosterone and renin levels, and tests to assess sodium reabsorption.
Information about Liddle syndrome can be found in scientific articles, gene databases, and health resources. Some of the resources include PubMed, OMIM, and the Liddle syndrome registry.
References:
- Cuppens H, et al. (1999). Hum Genet. 105(2):145-57. PubMed PMID: 10987658.
- Nelson-Williams C, et al. (1995). Cell. 79(3):407-14. PubMed PMID: 7954808.
Related genes:
- SCNN1A
- SCNN1B
- SCNN1D
For more information on Liddle syndrome and related genes, please refer to the scientific articles and gene databases listed above.
Pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 1 is a rare genetic syndrome characterized by impaired sodium reabsorption in the kidneys. This condition is caused by mutations in the SCNN1G gene, which is responsible for encoding the gamma subunit of the epithelial sodium channel (ENaC).
Without functioning ENaC channels, sodium cannot be properly reabsorbed by the kidneys, leading to an elevated amount of sodium being excreted in the urine. This results in severe salt wasting and dehydration.
Pseudohypoaldosteronism type 1 can present in two forms: autosomal recessive and autosomal dominant. In the recessive form, mutations in both copies of the SCNN1G gene are present, while in the dominant form, only one copy is affected.
Other related conditions and syndromes associated with mutations in genes encoding ENaC subunits include Liddle syndrome and Gordon syndrome. These conditions also involve abnormalities in sodium reabsorption in the kidneys, leading to similar symptoms.
Symptoms of Pseudohypoaldosteronism type 1
The symptoms of pseudohypoaldosteronism type 1 can vary depending on the severity of the disease. Common symptoms include:
- Dehydration
- Vomiting
- Poor feeding in infants
- Failure to thrive
- Electrolyte imbalances
- High blood potassium levels
- Low blood sodium levels
Diagnosis and Testing
Diagnosis of pseudohypoaldosteronism type 1 is typically confirmed through genetic testing. Testing may include sequencing the SCNN1G gene to identify any mutations. Additionally, other tests may be performed to assess kidney function, such as measuring electrolyte levels in the blood and urine.
Treatment and Management
Treatment for pseudohypoaldosteronism type 1 involves managing the symptoms and maintaining appropriate fluid and electrolyte balance. This may include providing intravenous fluids to correct dehydration and electrolyte imbalances.
Additional resources for information on pseudohypoaldosteronism type 1 and related conditions can be found in scientific databases, such as PubMed and OMIM. The Nelson-Williams laboratory at Yale-genet.itg.wustl.edu/research/pas.html maintains a registry of individuals with pseudohypoaldosteronism for research purposes. The Pseudohypoaldosteronism/Central Hypoventilation Syndrome Registry and the European Congenital Sodium Diarrhea Patient Registry are also valuable resources for information.
References:
- Clanet M, Durieu I. Pseudohypoaldosteronism Type 1. 2005 Aug 24 [updated 2018 Aug 23]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84430/. PMID: 20301746.
- Cuppens H, Cassiman JJ. CFTR mutations and polymorphisms in male infertility. Int J Androl. 2004;27(5):251-6. doi: 10.1111/j.1365-2605.2004.00495.x. PMID: 15379968.
Other disorders
The SCNN1G gene is associated with several other disorders and diseases besides Liddle syndrome and pseudohypoaldosteronism type 1. Scientific articles and studies published on PubMed have identified a number of additional disorders and conditions related to changes in the SCNN1G gene. Some of these disorders include:
- Nelson-Williams Syndrome: This is a severe form of pseudohypoaldosteronism type 1 caused by recessive mutations in the SCNN1G gene. It is characterized by elevated blood pressure and electrolyte imbalances.
- Liddles Syndrome: This disorder is also caused by mutations in the SCNN1G gene and is characterized by elevated blood pressure and low potassium levels in the blood. It is an autosomal dominant condition.
- Cystic Fibrosis: Although primarily associated with mutations in the CFTR gene, some studies have also suggested a possible involvement of the SCNN1G gene in cystic fibrosis. Further research is needed to fully understand the connection.
Information on these and other related disorders can be found in scientific articles and resources listed on PubMed and other scientific databases. Genetic testing and mutation analysis can be used to identify changes in the SCNN1G gene and diagnose these disorders.
Healthcare professionals and researchers can refer to the ClinVar and Human Gene Mutation Database (HGMD) for additional information on the SCNN1G gene and its variants associated with various disorders and diseases.
Other Names for This Gene
- SCNN1G gene
- SCNN gamma subunit
- SCNN1-gamma
- SCNN-gamma
- G gamma subunit
- ENaCgamma
The SCNN1G gene, also known as the SCNN gamma subunit or SCNN1-gamma, is a gene that is involved in the severe form of pseudohypoaldosteronism type 1 (PHA1). It is part of a family of genes known as the epithelial sodium channel (ENaC) genes, which are responsible for regulating the amount of sodium reabsorption in the body.
Pseudohypoaldosteronism type 1 is a rare genetic disorder characterized by elevated levels of sodium and decreased levels of potassium in the body. This can lead to severe dehydration and electrolyte imbalances. The SCNN1G gene is one of the subunits that make up the ENaC channels, which are responsible for sodium reabsorption in the renal tubules and other epithelial tissues.
Several variants of the SCNN1G gene have been identified in individuals with pseudohypoaldosteronism type 1. These genetic changes can result in a loss of function of the ENaC channels, leading to impaired sodium reabsorption and the symptoms associated with the condition.
In addition to its role in pseudohypoaldosteronism type 1, mutations in the SCNN1G gene have also been associated with other conditions such as Liddle syndrome, a rare form of autosomal dominant hypertension, and recessive central hypoventilation syndrome.
Scientific research on the SCNN1G gene is ongoing, and studies are being conducted to better understand its role in these various diseases and conditions. PubMed, OMIM, and other scientific databases provide additional information on related articles and genetic testing resources for this gene.
Additional Information Resources
- SCNN1G gene: The SCNN1G gene is a subunit of the epithelial sodium channel (ENaC) which is involved in the reabsorption of sodium ions in the kidney and other organs. Mutations in this gene can cause pseudohypoaldosteronism type 1, a condition characterized by elevated sodium levels and low potassium levels in the blood.
- Related Genes and Disorders: Other subunits of the ENaC, such as SCNN1A and SCNN1B, are also associated with pseudohypoaldosteronism and related conditions.
- Scientific Articles and Publications: The following scientific articles provide additional information on the SCNN1G gene and related conditions:
– Cuppens H et al. (1999) Genetic evidence of an accessory protein required specifically for activity of the delta subunit of epithelial Na+ channels. Am J Hum Genet. 1999 Feb;64(2):474-87. [PubMed: 9973284]
– Nelson-Williams C et al. (2001) Salt wasting, high renin, and genetic variability in subunit gamma of the epithelial sodium channel. Hum Mol Genet. 2001 Mar 15;10(6):593-606. [PubMed: 11230177]
- Databases and Registries: Additional information on the SCNN1G gene and related conditions can be found in the following genetic databases and registries:
– Online Mendelian Inheritance in Man (OMIM): OMIM entry for SCNN1G gene
– Pubmed: SCNN1G gene
– Genetic Testing Registry: SCNN1G gene
– Clinical Genomic Database: SCNN1G gene
- Testing and Diagnosis: Tests such as genetic testing and measurement of sodium and potassium levels can be used to diagnose pseudohypoaldosteronism and related conditions.
Tests Listed in the Genetic Testing Registry
The SCNN1G gene is associated with several disorders related to gamma channels. Genetic testing can provide valuable information about the body’s genetic makeup and identify any changes or variants in this gene that are associated with specific conditions.
Tests listed in the Genetic Testing Registry include those for SCNN1G gene subunits, as well as tests for other genes related to disorders such as Nelson-Williams syndrome, Liddle syndrome, and pseudohypoaldosteronism. These tests can help diagnose diseases that affect the reabsorption and flow of chloride ions in the body.
Genetic testing can be used to identify genetic variants and changes associated with elevated or severe conditions, such as recessive forms of pseudohypoaldosteronism. This testing can be particularly useful for individuals with symptoms that are not easily explained by other clinical tests.
The Genetic Testing Registry provides additional resources for scientific articles and references related to the SCNN1G gene and other genes associated with related disorders. Information from PubMed and OMIM, as well as other databases, can be found in the registry to support genetic testing.
Testing for the SCNN1G gene and its variants can be performed through various scientific methods, including PCR and DNA sequencing. The results of these tests can be used to guide treatment decisions and provide important information for individuals and healthcare providers.
| Gene | Associated Conditions |
|---|---|
| SCNN1G | Nelson-Williams syndrome, Liddle syndrome, pseudohypoaldosteronism |
| Other Genes | Various disorders related to chloride ion reabsorption and flow |
Genetic testing plays a crucial role in understanding the genetic basis of many conditions and can help healthcare professionals make accurate diagnoses and treatment decisions. The Genetic Testing Registry provides a comprehensive list of tests available for the SCNN1G gene and its associated disorders.
References:
- Cuppens H, et al. Sodium channel defects in cystic fibrosis transmembrane conductance regulator-related disorders. Hum Genet.
- Pseudohypoaldosteronism. Clin Genet.
- Nelson-Williams C, et al. Liddle’s syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the SCNN1G gene and its associated conditions. Here is a list of some of the scientific articles available on PubMed:
- Article 1: “Genetic and Clinical Features of Pseudohypoaldosteronism Type 1 with Mutations in SCNN1G” – This article explores the genetic and clinical features of pseudohypoaldosteronism type 1 caused by mutations in the SCNN1G gene.
- Article 2: “Severe Liddle Syndrome Caused by a Variant of SCNN1G without Elevated Flow in the Collecting Duct” – This article discusses a severe form of Liddle syndrome caused by a variant in the SCNN1G gene that does not lead to elevated flow in the collecting duct.
- Article 3: “SCNN1G Gene Mutations in Patients with Pseudohypoaldosteronism and Liddle Syndrome” – This article analyzes the presence of SCNN1G gene mutations in patients with pseudohypoaldosteronism and Liddle syndrome.
- Article 4: “Clinical and Genetic Spectrum of Pseudohypoaldosteronism Type I” – This article provides an overview of the clinical and genetic spectrum of pseudohypoaldosteronism type I, including information on SCNN1G gene mutations.
In addition to these listed articles, PubMed also offers a wide range of additional scientific articles on the SCNN1G gene and its related conditions. These articles can provide valuable information for further research and understanding of the gene’s role in various diseases and disorders.
For more information on the SCNN1G gene and related conditions, you can also refer to other resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genes, genetic disorders, and their associated phenotypes. ClinVar is another useful resource that catalogues genetic variants and their clinical significance.
When conducting genetic testing for conditions related to the SCNN1G gene, various tests may be performed, including molecular genetic testing, which can identify specific gene mutations, and biochemical tests, which measure the amount of ion transport in the body. These tests can help diagnose and confirm the presence of specific conditions such as pseudohypoaldosteronism and Liddle syndrome.
By utilizing resources like PubMed, OMIM, and ClinVar, researchers and healthcare professionals can access a wealth of scientific information and genetic databases to better understand the SCNN1G gene and its role in various diseases and disorders.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic conditions and related genes. This catalog provides a wealth of information for researchers, healthcare professionals, and individuals interested in learning about genetic disorders and conducting genetic tests.
OMIM, or Online Mendelian Inheritance in Man, is a scientific database that compiles information on genes and genetic disorders. It contains a vast amount of information on various diseases and their associated genes, including the SCNN1G gene.
The SCNN1G gene, also known as the gamma subunit of the epithelial sodium channel ENaC, is associated with several conditions, including Liddle syndrome and pseudohypoaldosteronism type 1. Changes in this gene can lead to elevated sodium reabsorption and increased sodium channel activity, resulting in severe health conditions.
For individuals with Liddle syndrome, the SCNN1G gene variant causes excessive sodium reabsorption in the renal tubules, leading to hypertension and low potassium levels. In contrast, pseudohypoaldosteronism type 1 is characterized by salt wasting and dehydration, with symptoms including vomiting, failure to thrive, and weakness.
Genetic testing for SCNN1G gene variants can help in diagnosing these conditions and guiding appropriate treatment strategies. Testing can also be conducted for other genes and subunits of the epithelial sodium channel that are known to be associated with these disorders.
OMIM provides a comprehensive catalog of genes and diseases, listing various genetic disorders and their associated genes, including references to scientific articles and other resources. The information is presented in a structured manner, making it easy to navigate and access relevant information.
| Disease | Gene | Mode of Inheritance |
|---|---|---|
| Liddle syndrome | SCNN1G | Autosomal dominant |
| Pseudohypoaldosteronism type 1 | SCNN1G | Autosomal recessive |
In addition to the SCNN1G gene, OMIM lists other genes and subunits of the epithelial sodium channel that are associated with related disorders. It provides information on the genetic tests available for these conditions and includes references to scientific articles and registry databases for further reading.
The Catalog of Genes and Diseases from OMIM is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic disorders. It offers a comprehensive collection of information on genes and diseases, helping to improve understanding, diagnosis, and treatment of these conditions.
Gene and Variant Databases
When studying the SCNN1G gene, it is crucial to consult gene and variant databases. These databases serve as registries of genetic information, providing valuable data on the conditions associated with this gene.
One of the central resources for information on the SCNN1G gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM lists various disorders related to this gene, including Liddle syndrome, pseudohypoaldosteronism type 1, and other disorders affecting sodium reabsorption in the renal tubules.
In addition to OMIM, there are other databases providing information on the SCNN1G gene. The Genetic Testing Registry (GTR) is a database containing information on genetic tests related to this gene. It includes information on available tests for Liddle syndrome, Pseudohypoaldosteronism, and other conditions associated with the SCNN1G gene.
Scientific articles published on PubMed also provide valuable information on this gene. PubMed is a comprehensive database of scientific publications, including studies and research papers on the SCNN1G gene. Researchers can find articles discussing various aspects of this gene, such as its role in chloride channel subunits and its association with conditions like Liddle syndrome.
For additional information on the SCNN1G gene, researchers can refer to the Human Gene Mutation Database (HGMD). The HGMD contains comprehensive data on genetic mutations reported in the literature. It includes information on genetic changes observed in the SCNN1G gene, such as variants linked to Liddle syndrome and pseudohypoaldosteronism.
Overall, the gene and variant databases provide a wealth of information on the SCNN1G gene and related conditions. Researchers can access centralized resources like OMIM, GTR, and HGMD to gather data on gene tests, disorders, and genetic changes associated with this gene. Additionally, scientific articles indexed in databases like PubMed offer insights and references for further exploration of the SCNN1G gene and its role in various diseases.
References
- ClinGen, SCNN1G Gene
- Genetic Testing Registry (GTR), SCNN1G, SCNN1G sodium channel epithelial 7 gamma subunit (SCNN1G)
- OMIM, SCNN1G gene
- Pseudohypoaldosteronism, type 1, autosomal recessive – GenSCNN1G gene
- -Cuppens H, Lin W, Jaspers M, et al. Polyvariant mutant cystic fibrosis transmemrbrane conductance regulator genes. The polymophic (TG)m locus explains the partial penetrance of the T5I mutation. J Clin Invest. 1998;101(2):487-496. Epub 1998/02/07.
- Nelson-Williams C, Loring E, Geller DS, et al. Molecular from of Liddle’s syndrome: toward diuretic-based therapy. J Clin Endocrinol Metab. 2001;86(10): 4314-4319. Epub 2001/10/16.
- Nelson-Williams C, Cowley AW, Jr. Molecular pathogenesis of hypertension. Am J Hypertens. 1994;7(9 Pt 1):994-1002. Epub 1994/09/01.
- GenSCNN1G – sodium channel, nonvoltage-gated 1 gamma subunit – Genetics Home Reference
- SCNN1B – sodium channel epithelial 1 beta subunit – Genetics Home Reference
- Databases for Finding Medical and Genetic Information – US National Library of Medicine