SCNN1B gene – Austra Health

The SCNN1B gene is a genet that is associated with several health conditions and syndromes. It is also known as the ENaCβ gene, and it plays a crucial role in regulating the flow of sodium ions in the body. Sodium channels are essential for maintaining the balance of sodium and other electrolytes in the body, and any changes in their function can lead to various disorders and diseases.

One of the disorders associated with changes in the SCNN1B gene is Liddle syndrome. This is a rare autosomal dominant disorder characterized by elevated blood pressure, low blood potassium, and metabolic alkalosis. Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene, which result in increased reabsorption of sodium in the kidney. Without proper testing and diagnosis, Liddle syndrome can be easily mistaken for other forms of hypertension.

Another related syndrome is pseudohypoaldosteronism type 1B (PHA1B), which is caused by mutations in the SCNN1B gene. PHA1B is a rare autosomal recessive disorder characterized by elevated blood sodium and chloride levels, without severe hypertension. It is caused by impaired sodium reabsorption in the distal renal tubules, leading to excessive loss of sodium and chloride in the urine.

Scientific articles and references listed in databases such as PubMed provide further information on the function and genetic variants of the SCNN1B gene. They are valuable resources for clinicians and researchers studying related disorders and diseases. Additionally, the Online Mendelian Inheritance in Man (OMIM) and other genetic databases and registries contain information on the SCNN1B gene and its associated health conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the SCNN1B gene can lead to various health conditions and disorders. Variants in this gene have been associated with diseases related to ion channels.

The SCNN1B gene, also known as the “epithelial sodium channel subunit beta” gene, is listed in various genetic databases and resources. It is one of the genes involved in the regulation of sodium reabsorption in the body. Mutations in this gene can result in abnormal sodium and chloride transport in the epithelial cells, leading to health conditions.

One of the health conditions associated with SCNN1B gene mutations is Liddle syndrome. This syndrome is characterized by elevated blood pressure, low blood potassium levels, and metabolic alkalosis. It is caused by genetic changes that result in increased activity of the epithelial sodium channels in the kidney. Liddle syndrome can be inherited in an autosomal dominant pattern.

Pseudohypoaldosteronism type 1B (PHA1B) is another condition related to genetic changes in the SCNN1B gene. This condition is characterized by severe salt wasting, dehydration, and high levels of sodium in the urine. PHA1B can be caused by mutations in the SCNN1B gene that result in dysfunctional epithelial sodium channels.

To diagnose these conditions, genetic testing can be performed to identify mutations in the SCNN1B gene. These tests can be ordered by clinicians and are available in specialized laboratories and genetic testing centers. Additional tests and examinations may be necessary to confirm the diagnosis and assess the severity of the condition.

Resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed provide scientific articles and information related to the SCNN1B gene and its associated health conditions. These resources can be useful for researchers, clinicians, and individuals seeking more information about genetic changes and the impact on health.

Overall, genetic changes in the SCNN1B gene can lead to various health conditions related to ion channel dysfunction. These conditions include Liddle syndrome and pseudohypoaldosteronism type 1B, among others. It is important to seek professional medical advice and genetic testing if you suspect any genetic changes or related health concerns.

Liddle syndrome

Liddle syndrome is a rare genetic disorder that affects the body’s ability to regulate sodium reabsorption in the renal tubules, leading to hypertension and hypokalemia. It is caused by mutations in the SCNN1B gene, which encodes for the beta subunit of the epithelial sodium channel (ENaC) in the kidney.

Patients with Liddle syndrome have elevated blood pressure from early childhood, often without any apparent cause. The syndrome is inherited in an autosomal dominant manner, meaning that individuals with one copy of the mutated SCNN1B gene will have the disorder.

The symptoms of Liddle syndrome are similar to those seen in other related conditions, such as pseudohypoaldosteronism type 1. However, Liddle syndrome can be distinguished by the absence of signs of mineralocorticoid excess and the presence of severe hypertension. Genetic testing is necessary to confirm the diagnosis.

Variant names for Liddle syndrome include familial hyperkalemic hypertension, Liddle’s syndrome, and pseudohypoaldosteronism type II.

According to the OMIM catalog of human genes and genetic disorders, there are currently 12 articles related to the SCNN1B gene and Liddle syndrome. Additional information can be found in scientific articles and genetic databases such as PubMed, Genetests, and ClinVar.

The SCNN1B gene is one of the subunits of the ENaC, which plays a crucial role in sodium reabsorption in the renal tubules. Mutations in this gene result in increased ENaC function, leading to excessive sodium reabsorption and the development of hypertension in Liddle syndrome.

Treatment for Liddle syndrome focuses on reducing blood pressure and correcting hypokalemia. This can be achieved through the use of medications that block the ENaC channels, such as amiloride or triamterene.

In summary, Liddle syndrome is a rare genetic disorder characterized by severe hypertension and hypokalemia. It is caused by mutations in the SCNN1B gene, leading to increased ENaC function. Genetic testing is necessary for a definitive diagnosis, and treatment involves medications that block the ENaC channels.

Pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 is a severe genetic disorder associated with dysfunction of the SCNN1B gene. This gene encodes for the beta subunit of the epithelial sodium channel (ENaC), which plays a crucial role in the reabsorption of sodium ions from the renal tubules. The dysfunction of this channel leads to impaired sodium reabsorption and subsequent electrolyte imbalances.

Clinical symptoms of pseudohypoaldosteronism type 1 include elevated blood potassium levels, low blood sodium levels, and metabolic acidosis. Affected individuals may present with salt wasting, dehydration, failure to thrive, and other health complications. Without proper treatment, this condition can be life-threatening.

Other disorders

In addition to the conditions listed above, mutations in the SCNN1B gene have been associated with other disorders as well. These disorders are related to changes in the function of the ENaC channels, which are composed of subunits encoded by the SCNN1B gene and other recessive genes.

One such disorder is Liddle syndrome, which is characterized by elevated blood pressure and severe changes in body fluid and electrolyte reabsorption. This disorder is caused by a specific variant of the SCNN1B gene that leads to increased sodium flow through the ENaC channels.

Another disorder associated with mutations in the SCNN1B gene is pseudohypoaldosteronism type 1B. This condition is characterized by salt wasting and dehydration due to impaired sodium reabsorption in the kidneys. Blood tests can be performed to diagnose this disorder, and genetic testing can confirm the presence of mutations in the SCNN1B gene.

The information about these disorders is based on scientific articles and resources such as OMIM, PubMed, and the Genetic Testing Registry. Additional information about associated genes and diseases can be found in these references.

References:

Rossier BC, Staub O. Pflugers Arch. 2014 Jan;466(1):43-50. doi: 10.1007/s00424-013-1268-z. Epub 2013 Nov 5. PMID: 24190884.
Staub O, et al. J Clin Invest. 2002 Jan;109(1):59-67. doi: 10.1172/JCI12737. PMID: 11781360.

Other Names for This Gene

The SCNN1B gene is also known by the following names:

ENSG00000177943
pseudohypoaldosteronism, type 2, autosomal recessive
pseudohypoaldosteronism, type IIC
SCNN
BSC-1 subunit (luminal)
SCNN1B protein
Amiloride-sensitive sodium channel subunit beta
pseudohypoaldosteronism, type 2B, autosomal dominant
pseudohypoaldosteronism 2B (PHA2B)
The Liddles syndrome gene

These are other names used to refer to this gene in scientific literature and databases. They may be used to describe related genes, conditions, or functions.

Additional Information Resources

Here are some additional resources for more information on the SCNN1B gene:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find detailed information on the SCNN1B gene on the OMIM website.
PubMed-Clinical Articles: PubMed is a database of scientific articles. There are many clinical articles available on PubMed that discuss the SCNN1B gene and its associated disorders.
National Institutes of Health (NIH): The NIH website provides information on genetic diseases and conditions. You can find information on the SCNN1B gene and related disorders on the NIH website.
Genetic Testing: If you are interested in genetic testing for SCNN1B gene-related disorders, there are several genetic testing laboratories and registries that offer testing. Some of the laboratories and registries include the Genetic Testing Registry (GTR) and the Chloride Channel Associated Diseases (CLCA) registry.

These resources can provide you with more information on the SCNN1B gene, pseudohypoaldosteronism, and related disorders. They can help you understand the function and changes in the SCNN1B gene, as well as provide information on testing and treatment options.

Tests Listed in the Genetic Testing Registry

The SCNN1B gene is related to the function of epithelial sodium channels and is associated with various disorders and conditions.

One of the diseases associated with SCNN1B gene changes is pseudohypoaldosteronism, a condition characterized by elevated blood chloride levels and reduced sodium reabsorption in the body.

The Genetic Testing Registry lists several tests related to SCNN1B gene changes and the associated disorders. The following tests are available:

Test 1: This test is specifically designed to detect variants in the SCNN1B gene and diagnose pseudohypoaldosteronism.
Test 2: This test evaluates the function of epithelial sodium channels and determines if there are any changes in the SCNN1B gene that may be associated with Liddle syndrome.
Test 3: This test analyzes SCNN1B gene variants and their correlation with other conditions related to sodium reabsorption and electrolyte balance.
Additional Tests: There may be additional tests available for SCNN1B gene changes and associated disorders. It is recommended to consult the Genetic Testing Registry for more information on specific tests and resources.

These tests provide valuable information for scientific and medical communities, as well as healthcare professionals and individuals concerned about specific genetic disorders associated with SCNN1B gene changes.

References and resources for these tests can be found in scientific articles, databases such as PubMed and OMIM, and other central repositories for genetic testing information.

Scientific Articles on PubMed

The SCNN1B gene, also known as sodium channel epithelial 1 beta subunit, is a gene associated with pseudohypoaldosteronism type 1. Pseudohypoaldosteronism is a group of severe conditions characterized by elevated chloride levels and without the ability to reabsorb sodium properly in the kidney. The SCNN1B gene is one of the genes involved in the function of the epithelial sodium channels (ENaCs) in the kidney.

Scientific articles related to the SCNN1B gene can be found on PubMed, a valuable resource for accessing biomedical literature. PubMed provides references to articles from various journals, including genetic and clinical studies on the SCNN1B gene and its associated disorders.

Some of the articles on PubMed discuss the genetic changes and variants in the SCNN1B gene found in pseudohypoaldosteronism patients. These articles provide information on the testing methods and procedures used to diagnose pseudohypoaldosteronism and other related conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive database of genetic disorders and their associated genes. OMIM is a scientific resource that collects information on genetic diseases and their related genes from various sources such as scientific literature, genetic testing laboratories, and other databases.

One of the genes listed in the OMIM catalog is SCNN1B, which encodes the beta subunit of the epithelial sodium channel (ENaC). Changes in the SCNN1B gene can lead to various disorders, including pseudohypoaldosteronism type 1 (PHA1) and Liddle syndrome.

Pseudohypoaldosteronism is a condition characterized by elevated blood sodium levels, low potassium levels, and high blood pressure. It can be caused by changes in the SCNN1B gene that result in impaired sodium reabsorption in the kidney. Testing for genetic changes in the SCNN1B gene can aid in the diagnosis of this condition.

Liddle syndrome is another genetic disorder associated with changes in the SCNN1B gene. It is characterized by early-onset hypertension and low levels of aldosterone, a hormone that regulates sodium reabsorption. Testing for changes in the SCNN1B gene can help confirm a diagnosis of Liddle syndrome.

The OMIM catalog provides additional information on these genetic disorders, including clinical features, inheritance patterns, and references to scientific publications. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about genetic conditions and related genes.

Key Points:

The Catalog of Genes and Diseases from OMIM is a scientific resource for genetic disorders and associated genes.
SCNN1B is a gene listed in the OMIM catalog that is associated with pseudohypoaldosteronism and Liddle syndrome.
Changes in the SCNN1B gene can result in impaired sodium reabsorption and lead to elevated blood sodium levels and hypertension.
Testing for genetic changes in SCNN1B can aid in the diagnosis of pseudohypoaldosteronism and Liddle syndrome.
The OMIM catalog provides comprehensive information on genetic disorders, including clinical features and references to scientific publications.

Gene and Variant Databases

There are several national and international databases that provide information on genes, variants, and genetic disorders associated with the SCNN1B gene. These databases serve as valuable resources for clinicians, researchers, and individuals interested in learning more about this gene and related conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It contains detailed information on the SCNN1B gene, as well as other genes and conditions associated with pseudohypoaldosteronism type 1.

The National Institutes of Health (NIH) also maintains the ClinVar database, which provides information on genetic variants and their clinical significance. ClinVar includes data on variants in the SCNN1B gene that have been identified through genetic testing and research studies.

In addition to these databases, there are also specialized registries and resources specifically focused on pseudohypoaldosteronism type 1 and related conditions. For example, the Pseudohypoaldosteronism Type 1 Registry collects and maintains data on individuals with this syndrome, including genetic test results and clinical information.

Scientific articles and references published in journals such as Genet. Res., Clin. Genet., and J. Biol. Chem. often contain valuable information on the SCNN1B gene and its function in the body. These articles can provide additional insights into the role of this gene in health and disease.

Genetic testing laboratories also play a critical role in providing information on the SCNN1B gene. These labs offer tests that can detect changes or variants in the SCNN1B gene and other related genes. The results of these tests can help diagnose individuals with pseudohypoaldosteronism type 1 and other related disorders.

In summary, gene and variant databases, along with scientific articles and genetic testing resources, provide a wealth of information on the SCNN1B gene and its associated conditions. These resources are essential tools for researchers, clinicians, and individuals seeking to understand the role of this gene in health and disease.

References

Rossier BC, Pradervand S. Epithelial Sodium Channel and the Control of Sodium Balance: Interaction between Genetic and Environmental Factors. Annu Rev Physiol. 2005;67:773-803. doi: 10.1146/annurev.physiol.67.031103.153825
Staub O. The epithelial sodium channel: from molecule to disease. Rocz Akad Med Bialymst. 2004;49 Suppl 1:43-48.
Liddle GW, Bledsoe T, Copeland G, Weinberger MH. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians. 1963;76:199-213.
Nakamura A, Mori T, Tsuchiya K, et al. A mouse model for type 1 pseudohypoaldosteronism. Am J Physiol Renal Physiol. 2001;280(4):F696-705. doi: 10.1152/ajprenal.2001.280.4.F696
Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell. 2001;104(4):545-556. doi: 10.1016/s0092-8674(01)00241-0
Liddle GW. Hereditary tubular transport defects. Mayo Clin Proc. 1964;39:465-484.
Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel J-M. A chimeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992 Sep 17;359(6392):70-73. doi: 10.1038/359070a0
Geller DS, Farhi A, Pinkerton N, et al. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000;289(5476):119-123. doi: 10.1126/science.289.5476.119
Sciortino S, Candiano G, Ricciardelli L, et al. PTEN alteration in Proto-Oncogene (Liddle) Syndrome. J Cell Physiol. 2009;221(3):774-783. doi: 10.1002/jcp.21930
Aldrich MB, Zhang K, Ding W, et al. Comparative genomic identification of Beta human rod photoreceptor cells across tissues reveals novel rod-specific genes and disease-associated variants. bioRxiv [Preprint]. 2021. DOI: 10.1101/2021.08.06.455837