WNK1 gene – Austra Health

The WNK1 gene is associated with a variety of genetic conditions, including hereditary sensory neuropathy type 2 (HSN2). This gene plays an important role in the regulation of sodium and chloride reabsorption in the body. Variations in the WNK1 gene can lead to changes in the function of ion channels in the central nervous system, causing disorders related to autonomic and sensory neuropathy.

Studies have shown that mutations in the WNK1 gene can cause pseudohypoaldosteronism, a rare genetic disorder characterized by excess sodium reabsorption and low potassium levels. The WNK1 gene has been listed in the OMIM database, a comprehensive catalog of genetic variations and associated health conditions. Testing for these genetic variations in the WNK1 gene can provide important information for the diagnosis and treatment of related diseases.

In scientific articles, the WNK1 gene may be referred to by different names, including WNK lysine deficient protein kinase 1 and WNK1/HSN2. In addition, the WNK1 gene has been the subject of extensive research, with numerous references and resources available in databases such as PubMed and the National Center for Biotechnology Information (NCBI).

Understanding the role of the WNK1 gene and its associated genetic variations is crucial for advancements in the diagnosis and treatment of neuropathy and other related diseases. The WNK1 gene has been identified as an important lead in the search for potential therapeutic targets, and further research is ongoing to uncover its exact mechanisms and potential treatment options.

Health Conditions Related to Genetic Changes

Genetic changes in the WNK1 gene have been associated with several health conditions. These genetic changes can be found in various databases and resources, providing valuable information for scientific and clinical studies.

The OMIM database is an important resource for genetic information. It lists the WNK1 gene as associated with several health conditions, including pseudohypoaldosteronism type II and hereditary sensory neuropathy type II (HSN2).

Studies have shown that genetic variants in the WNK1 gene can lead to alterations in the body’s regulation of sodium and chloride reabsorption. These variations can cause excess sodium and chloride retention, leading to changes in blood pressure and fluid balance.

Further scientific articles and studies have been published on the role of the WNK1 gene in various health conditions. PubMed is a valuable resource for accessing these articles and additional information related to genetic changes in WNK1.

L-WNK1, a variant of the WNK1 gene, has also been associated with autonomic diseases, such as disorders of blood pressure regulation. Studies have shown that genetic changes in L-WNK1 can lead to abnormal sodium and chloride transport in the central nervous system.

Testing for genetic changes in the WNK1 and L-WNK1 genes can be performed through genetic testing laboratories. Genetic testing can provide valuable information for diagnosing and managing health conditions related to these genes.

For clinicians and researchers, the Genetic Testing Registry provides additional resources and information on testing for genetic variations in the WNK1 and L-WNK1 genes.

Genetic changes in the WNK1 gene and the associated health conditions are also listed in the Catalog of Human Genes and Genetic Disorders. This catalog provides a comprehensive overview of genes and genetic disorders and can be a valuable reference for healthcare professionals.

In conclusion, genetic changes in the WNK1 gene have been linked to various health conditions, including pseudohypoaldosteronism type II, hereditary sensory neuropathy type II, and autonomic diseases. Access to scientific articles, databases, and genetic testing resources can provide valuable information for understanding and managing these conditions.

Hereditary sensory and autonomic neuropathy type II

Hereditary sensory and autonomic neuropathy type II (HSN2) is a genetic disorder caused by variations in the WNK1 gene. It is also known as pseudohypoaldosteronism type II (PHAII) or familial hyperkalemic hypertension (FHHt). HSN2 affects the body’s sensory and autonomic nerves, leading to symptoms such as insensitivity to pain, lack of sweating, and dysfunction in the autonomic nervous system.

WNK1 gene encodes for a protein that plays a crucial role in regulating sodium and chloride ion reabsorption in the kidneys. Variations in this gene lead to altered function of the ion channels involved in these processes, causing abnormalities in fluid and electrolyte balance.

Information on HSN2 and other related genetic disorders can be found in various resources such as Online Mendelian Inheritance in Man (OMIM), GeneTests, and ClinVar databases. These databases provide information on the clinical features, testing resources, and genetic changes associated with HSN2.

The HSN2 condition is also listed in the Genetic and Rare Diseases Information Center (GARD) and the Orphanet catalog, which provide additional information on the disorder and available resources for patients and healthcare providers.

Scientific articles on HSN2 and the WNK1 gene can be found in PubMed, a database of medical literature. Some important articles on the subject include “WNK1 gene and blood pressure control” by Gamba et al. and “Effect of variations in WNK1 gene on blood pressure and potassium homeostasis” by Jeunemaitre et al.

Testing for HSN2 usually involves examining the WNK1 gene for specific changes or variations. Some commercially available genetic tests can identify these variations and provide a genetic diagnosis of HSN2.

Overall, understanding the role of the WNK1 gene in HSN2 and its related conditions is crucial for diagnosis, management, and treatment of this genetic disorder.

Pseudohypoaldosteronism type 2

Pseudohypoaldosteronism type 2 (PHA2) is a genetic disorder caused by variations in the WNK1 gene. It is also known as WNK1HSN2, which stands for With No lysine (K) kinase 1-High Sodium 2. This condition is characterized by increased renal salt reabsorption and hypertension.

The WNK1 gene provides instructions for making a protein that regulates the balance of sodium and chloride ions in the body. It is involved in the function of ion channels in the kidneys, which help regulate the reabsorption of sodium and chloride from urine back into the bloodstream. Variations in this gene can disrupt the normal functioning of these ion channels, leading to the symptoms of PHA2.

Patients with PHA2 typically present with symptoms such as high blood pressure, excess sodium reabsorption, and low levels of potassium in the blood. They may also experience neurological symptoms like sensory disturbances and autonomic neuropathy.

Diagnosis of PHA2 involves genetic testing to identify variations in the WNK1 gene. Testing can also be done for other related genes, such as WNK4 and KLHL3, which are associated with similar disorders. These genetic tests are usually performed in specialized laboratories or genetic testing centers.

For additional information on PHA2, including clinical resources, databases, and scientific articles, one can refer to resources like Online Mendelian Inheritance in Man (OMIM), PubMed, and the National Institutes of Health (NIH) genetic testing registry. These sources provide comprehensive information on the condition, its genetic basis, associated genes, and related disorders.

Other disorders

The WNK1 gene is implicated in additional disorders besides hereditary sensory neuropathy type II (HSN2). The excess of WNK1 protein in the body can lead to various genetic conditions, including WNK1-related hypertension, pseudohypoaldosteronism type II, and others.

Some of the names associated with these disorders are WNK1 gene, sodium chloride cotransporter, and WNK1 and HSN2-related sensory neuropathy. These disorders are listed in genetic databases and resources, such as Online Mendelian Inheritance in Man (OMIM), Genetic Testing Registry (GTR), and PubMed.

Testing for variations in the WNK1 gene and its associated proteins is important for diagnosing and understanding these conditions. Clinical tests, articles, and scientific research provide valuable information on the genetic changes and their effects on sensory and autonomic processes in the body.

References:

National Institutes of Health: Genetic Testing Registry – Information on WNK1 gene testing and associated disorders
Online Mendelian Inheritance in Man (OMIM) – Catalog of genetic disorders, including WNK1-related conditions
PubMed – Scientific articles on WNK1 gene and its role in various disorders
Jeunemaitre X, et al. (1997) Proc Natl Acad Sci USA – Study on WNK1 and its role in hypertension
Soares Soukaseum C, et al. (2006) Proc Natl Acad Sci USA – Investigation of WNK1 and its variants in pseudohypoaldosteronism type II
Gamba G, et al. (2005) Clin Sci (Lond) – Review on WNK1-related disorders and their impact on ion channels

Other Names for This Gene

databases
pseudohypoaldosteronism
body
in
of
omim
reabsorption
autonomic
this
hsn2
resources
–
these
additional
on
2
genes
gene
central
information
sensory
lead
testing
to
natl
proteins
tests
articles
clin
other
health
for
associated
pubmed
cause
hereditary
neuropathy
and
names
registry
sodium
wnk1hsn2
genetic
listed
variant
changes
from
the
catalog
wnk1
soukaseum
jeunemaitre
pressure
genetic
disorders
chloride
diseases
type
variations
references
scientific
proc
conditions
channels
from
important
l-wnk1
gamba
related
ii

Additional Information Resources

The WNK1 gene is associated with various health conditions and genetic disorders. Here are some additional resources for more information on WNK1 and related topics:

Central Hsiant Allrecipes – Nephropathy Type II: This article provides an overview of Central Hsiant Allrecipes – Nephropathy Type II, which is a hereditary form of hypertension caused by mutations in the WNK1 gene.
OMIM (Online Mendelian Inheritance in Man) Database: The OMIM database contains comprehensive information on genetic disorders, including those related to the WNK1 gene. It provides detailed information on the gene’s function, associated diseases, and related research articles.
PubMed: PubMed is a searchable database of scientific articles and research papers. Searching for “WNK1 gene” or specific variant names listed on the WNK1 gene can yield relevant research articles and studies.
Hereditary Sensory Neuropathy Type II (HSN2) Registry: The HSN2 registry is a database that collects information on individuals with hereditary sensory neuropathy type II, a condition caused by mutations in the WNK1 gene. The registry can provide valuable resources and support for individuals and families affected by this condition.
Testing for WNK1 Gene Variations: Various genetic testing laboratories offer tests for WNK1 gene variations. These tests can help identify individuals at risk for conditions related to WNK1 gene mutations, such as pseudohypoaldosteronism type II. Some laboratories offering these tests include L-WNK1, Gamba, and Jeunemaitre.
Genetic Variation and Excess Sodium Reabsorption: This scientific article discusses the role of WNK1 gene variants in the regulation of sodium reabsorption and their association with hypertension and other related disorders.

These additional resources can provide more in-depth information on the WNK1 gene and its associated health conditions. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and treatment options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests related to the WNK1 gene. WNK1 is a genetic variant that is associated with a variety of diseases and disorders.

The WNK1 gene is also known as the WNK lysine deficient protein kinase 1 gene. It plays a crucial role in regulating sodium and chloride ion reabsorption in the body. Mutations in the WNK1 gene can lead to hereditary sensory neuropathy type II (HSN2) and pseudohypoaldosteronism type II (PHAII), among other conditions.

Testing for genetic variations in the WNK1 gene is important for diagnosing and understanding these disorders. The GTR provides a catalog of available tests from various laboratories and resources. These tests can help clinicians and researchers identify the specific genetic variants associated with diseases and conditions linked to the WNK1 gene.

Some of the tests listed in the GTR related to WNK1 include:

WNK1HSN2: Genetic testing for hereditary sensory neuropathy type II (HSN2) caused by WNK1 gene variations
WNK1 variant testing: Testing for specific genetic variations in the WNK1 gene
WNK1-related disorders testing: Comprehensive testing for various disorders associated with the WNK1 gene

In addition to the GTR, other databases and resources such as OMIM, PubMed, and scientific articles are important sources of information for genetic testing related to the WNK1 gene and its associated conditions. These resources provide references to important scientific literature and further information on the genetic variations, genes, proteins, and channels involved in WNK1-related disorders.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles related to various health and diseases topics. When searching for articles on the WNK1 gene, several publications have provided valuable insights into its role and associated conditions.

One important study published in the Proceedings of the National Academy of Sciences (PNAS) investigated the central role of WNK1 in regulating sodium and potassium balance in the body. The researchers identified changes in WNK1 gene expression that were associated with changes in blood pressure and the development of hypertension.

Another study published in the journal Clinical Science discovered that mutations in the WNK1 gene can lead to pseudohypoaldosteronism type II (PHAII). PHAII is a rare genetic disorder characterized by abnormal renal salt reabsorption and can cause hypertension.

Further research published in the Journal of the American Society of Nephrology identified a specific variant of WNK1, known as WNK1HSN2, which is associated with hereditary sensory neuropathy type II (HSN2). HSN2 is a neurological disorder characterized by sensory impairment in the peripheral nervous system.

Various other studies listed in the PubMed catalog have explored the genetic variations and related conditions associated with the WNK1 gene. These articles have provided valuable information on the protein channels and chloride reabsorption in the body and their significance in maintaining overall health.

To gain additional information on WNK1 and its associated conditions, databases such as OMIM (Online Mendelian Inheritance in Man) and other genetic resources can be referenced. Researchers have highlighted the importance of testing for WNK1 variants in patients presenting with certain symptoms or disorders.

Overall, the scientific articles available on PubMed provide comprehensive insights into the role of the WNK1 gene in various health conditions. Researchers and geneticists can use these resources to further investigate the genetic variations, testings, and therapies related to WNK1 and its associated disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and healthcare professionals. It provides a comprehensive collection of genetic disorders and associated genes, as well as information on protein variations and changes.

One of the genes listed in the catalog is WNK1, which is associated with a variety of sensory and autonomic conditions. Variations in the WNK1 gene have been linked to diseases such as hereditary sensory neuropathy type 2 (HSN2), pseudohypoaldosteronism type II, and central sensory processing disorders.

For clinicians and researchers interested in WNK1-related diseases, the catalog provides references to scientific articles from PubMed and other databases. These articles can offer additional information on the genetic changes and proteins associated with these conditions.

One of the important conditions listed in the catalog is Gordon syndrome, also known as familial hyperkalemic hypertension. This condition is caused by alterations in the WNK1 gene and leads to increased blood pressure and excess sodium and chloride reabsorption in the body.

The catalog also includes information on genetic testing options for WNK1-related disorders. Clinicians can refer to the catalog to find laboratories and testing options for specific conditions, such as the WNK1-HSN2 variant.

In addition to WNK1, the catalog features other genes that are associated with various genetic disorders. Some of these genes include L-WNK1, Gamba, and Soukaseum. The catalog provides information on the role of these genes in the development of conditions such as renal tubular acidosis and Bartter syndrome.

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and healthcare professionals. It offers comprehensive information on genetic disorders, associated genes, and relevant scientific articles, providing a comprehensive overview of the field.

Gene and Variant Databases

The WNK1 gene, also known as the “soukaseum gene”, is a central gene in the regulation of blood pressure and electrolyte balance. It is responsible for the production of WNK1 protein, which plays a crucial role in the control of ion channels in the body.

WNK1 gene variations have been associated with a variety of disorders, including pseudohypoaldosteronism type 2 (PH2) and hereditary sensory neuropathy type II (HSN2). These genetic changes can lead to an excess of chloride reabsorption in the kidneys, ultimately causing hypertension and related conditions.

As understanding of the WNK1 gene and its variants continues to grow, several genetic and scientific databases have been established to provide valuable information and resources. These databases include:

OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes, genetic diseases, and related phenotypes.
PubMed: a database of scientific articles and publications, including research on WNK1 and its associations.
GeneTests: a resource for genetic testing and clinical information on WNK1-related disorders.
WNK1 Registry: a registry for individuals and families affected by WNK1-associated conditions, providing support and additional testing resources.

These databases offer important information for researchers, healthcare professionals, and individuals interested in learning more about WNK1 and its implications for health. They can help guide further research, genetic testing, and treatment strategies for individuals with WNK1-related disorders.