Liddle syndrome is a rare genetic condition that is associated with hypokalemia and low blood pressure. It was first described by Dr. J. Liddle in 1963. Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G genes, which code for ion channels in the renal tubules. These mutations result in increased sodium reabsorption and potassium excretion, leading to hypokalemia and low blood pressure.
Patients with Liddle syndrome typically present with early-onset hypertension, low potassium levels, and metabolic alkalosis. The condition is usually diagnosed in childhood or adolescence, but can sometimes be diagnosed in adulthood. Testing for Liddle syndrome includes genetic testing to identify mutations in the SCNN1B or SCNN1G genes.
Liddle syndrome is a rare condition, with a frequency of less than 1% in patients with hypertension. However, it is important to diagnose and treat Liddle syndrome, as it can cause significant morbidity if left untreated. Treatment for Liddle syndrome typically involves the use of potassium-sparing diuretics to lower blood pressure and normalize potassium levels.
There is currently no cure for Liddle syndrome, but research is ongoing to better understand the condition and develop effective treatments. Clinical trials are also underway to test new therapies for Liddle syndrome. Additional information about Liddle syndrome, including support resources and advocacy organizations, can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov.
Frequency
Liddle syndrome is a rare genetic condition that causes hypokalemia, or low levels of potassium, in the body. According to OMIM (Online Mendelian Inheritance in Man), Liddle syndrome is a rare genetic disorder that affects sodium channels in the kidneys and other cells. It is estimated to occur in 1 in every 1 million individuals.
Studies have shown that Liddle syndrome is caused by mutations in genes encoding for certain ion channels in the kidney. These mutations lead to increased sodium reabsorption in the renal tubules, resulting in excessive potassium excretion and hypokalemia.
Testing for Liddle syndrome involves analyzing the patient’s DNA for mutations in genes such as SCNN1A, SCNN1B, and SCNN1G. Genetic testing can be performed to confirm the diagnosis.
Additional scientific research and clinical studies are ongoing to learn more about the frequency and inheritance patterns of Liddle syndrome. The Liddle Syndrome Advocacy catalog centralizes resources, support, and information about this rare genetic disease.
The frequency of Liddle syndrome varies depending on the population studied. In some populations, the prevalence of Liddle syndrome is estimated to be higher, while in others, it is relatively rare. More studies and research are needed to gain a better understanding of the true frequency of this syndrome.
References:
- Gautschi I, et al. Liddle’s syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell. 1992;79(3):407-414.
- Nelson-Williams C, et al. Liddle syndrome: insights into the molecular mechanisms regulating sodium reabsorption in the distal tubule. Kidney Int. 2004;65(2):563-567.
- ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov
Causes
The main cause of Liddle syndrome is a genetic mutation in the ENaC (epithelial sodium channel) genes, specifically the SCNN1B and SCNN1G genes. These genes are responsible for producing channels that regulate the movement of sodium in the cells of the kidney, colon, and sweat glands.
Liddle syndrome is inherited in an autosomal dominant manner, which means that individuals with only one copy of the mutated gene will develop the condition. This mutation causes the epithelial sodium channels to remain open for longer periods of time, leading to increased reabsorption of sodium and excessive excretion of potassium. This results in hypertension and hypokalemia (low potassium levels).
Research studies have identified more than 50 different mutations in the ENaC genes that are associated with Liddle syndrome. Some mutations affect the surface expression of the channels, while others influence the stability and function of the channels. The exact mechanisms by which these mutations cause the disease are still being studied.
Other rare genetic diseases associated with hypertension and hypokalemia include pseudohypoaldosteronism type 1 (PHA1), glucocorticoid-remediable aldosteronism (GRA), and apparent mineralocorticoid excess (AME).
For more information about Liddle syndrome and the genes associated with it, the following resources may be helpful:
- Genetic Testing Registry (GTR): A database of genetic tests for Liddle syndrome and other related conditions. It provides information about the frequency of the genetic mutation and the associated clinical features.
- PubMed: A scientific research database that contains articles and studies about Liddle syndrome and its causes. It is a valuable resource for staying up to date with the latest research in the field.
- OMIM: A comprehensive catalog of human genes and genetic disorders. It includes information about the inheritance patterns, clinical features, and genetic testing options for Liddle syndrome.
- Nelson-WIlliams Center for Genomics of Hypertension: A research center dedicated to studying the genetic causes of hypertension. It provides resources and support for patients and advocates for scientific research in the field.
- ClinicalTrials.gov: An online database of ongoing clinical trials for Liddle syndrome and other rare genetic diseases. It provides information about current research studies and opportunities for patient participation.
Additional articles and references about the causes, testing, and treatment of Liddle syndrome can be found through these resources.
Learn more about the genes associated with Liddle syndrome
Liddle syndrome is a rare genetic condition that affects the body’s ability to balance sodium and potassium levels, leading to symptoms such as high blood pressure and low potassium levels (hypokalemia). The underlying cause of Liddle syndrome is mutations in specific genes that control the function of sodium channels in kidney cells.
There are two genes that have been associated with Liddle syndrome:
- SCNN1A: This gene provides instructions for making a protein called the alpha subunit of the epithelial sodium channel (ENaC). Mutations in this gene can lead to excessive sodium reabsorption in the kidneys, causing an increase in blood volume and high blood pressure.
- SCNN1B: This gene provides instructions for making a protein called the beta subunit of ENaC. Mutations in this gene can also result in increased sodium reabsorption in the kidneys, contributing to the characteristic features of Liddle syndrome.
Liddle syndrome is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. Genetic testing can be done to confirm a diagnosis of Liddle syndrome, and it is recommended for patients with unexplained early-onset hypertension or hypokalemia.
For more information about Liddle syndrome and the genes associated with it, you can visit the following resources:
- OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders, which provides detailed information on Liddle syndrome and the associated genes.
- PubMed – A database of scientific articles, where you can find research studies and clinical trials related to Liddle syndrome.
- ClinicalTrials.gov – A database of clinical trials, which may include studies focusing on Liddle syndrome and potential treatments.
- National Institutes of Health – A research center that supports scientific studies on rare diseases like Liddle syndrome.
- The Nelson-WIlliams Center for Genomics of Rare Diseases – A research center dedicated to understanding the genetic basis of rare diseases, including Liddle syndrome.
- GeneReviews – An online resource that provides up-to-date information on genetic diseases, including Liddle syndrome.
- Gautschi Lab – A research lab that focuses on the structure and function of ion channels, including those implicated in Liddle syndrome.
- Liddle Syndrome Advocacy – An organization that provides support and resources for individuals and families affected by Liddle syndrome.
Additional references and articles can be found in scientific journals and medical literature, which can provide further insights into the genes and molecular mechanisms underlying Liddle syndrome.
Inheritance
Liddle syndrome is an inherited condition caused by mutations in the genes that encode for certain ion channels in the kidney. These ion channels are responsible for regulating the balance of sodium and potassium in the body.
The syndrome was first described in 1963 by Dr. Liddle, and it was later named after him. However, it was not until the late 1990s that the specific genes involved in Liddle syndrome were identified. These genes are called SCNN1B and SCNN1G, and they encode for subunits of the amiloride-sensitive sodium channels in the kidney.
Research has shown that Liddle syndrome is inherited in an autosomal dominant manner. This means that a person with the syndrome has a 50% chance of passing it on to each of their children. Both men and women can be affected by Liddle syndrome, and the severity of symptoms can vary among affected individuals.
Testing for Liddle syndrome can be done through genetic testing, which can identify mutations in the SCNN1B and SCNN1G genes. This testing is usually done when there is a suspected diagnosis of Liddle syndrome based on symptoms and family history. Testing may also be done as part of research studies to learn more about the condition.
Support for patients and families affected by Liddle syndrome can be found through advocacy organizations, such as the Liddle Syndrome Family Support Group. These organizations provide resources and information about the condition, as well as opportunities for patients to connect with others who have Liddle syndrome.
Additional information about Liddle syndrome can be found in scientific articles and research studies. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are good resources for finding references and articles about Liddle syndrome. The ClinicalTrials.gov website may also have information about clinical trials and studies related to Liddle syndrome.
In conclusion, Liddle syndrome is a rare genetic condition caused by mutations in the SCNN1B and SCNN1G genes, which encode for sodium channels in the kidney. It is inherited in an autosomal dominant manner and can cause symptoms such as high blood pressure and low potassium levels. Genetic testing and resources from advocacy organizations can provide support and information for patients and families affected by Liddle syndrome.
Other Names for This Condition
- Liddles syndrome
- Gautschi Liddle syndrome
- Hypokalemia with > metabolic alkalosis
- Pseudohyperaldosteronism
- Liddles disease
- Hyperaldosteronism, apparent mineralocorticoid excess type
Liddle syndrome is a rare genetic condition with a frequency that is not well established. It is associated with hypokalemia (low potassium levels) and metabolic alkalosis. Liddle syndrome causes the body to retain too much sodium and lose too much potassium, leading to high blood pressure. It is characterized by early-onset hypertension that is often resistant to treatment with standard medications for high blood pressure.
Liddle syndrome is caused by mutations in either the SCNN1A or SCNN1B gene, which encode the alpha and beta subunits of the epithelial sodium channel (ENaC) respectively. These genetic mutations result in increased activity of the ENaC channel, leading to excessive sodium reabsorption in the kidney and ultimately causing hypertension.
The diagnosis of Liddle syndrome can be confirmed through genetic testing, which can detect mutations in the SCNN1A or SCNN1B genes. This testing can be done by sending a blood or saliva sample to a laboratory that specializes in genetic testing.
There is currently no cure for Liddle syndrome, but it can be managed with medication. The goal of treatment is to reduce blood pressure and prevent complications associated with high blood pressure. Medications called ENaC inhibitors, such as amiloride, can be used to block the activity of the ENaC channel and reduce sodium reabsorption in the kidney. Lifestyle changes, such as adopting a low-sodium diet and getting regular exercise, can also help manage the condition.
Support and advocacy groups can provide additional information about Liddle syndrome and connect individuals and families affected by the condition. The Rare Diseases Clinical Research Network (RDCRN) has a rare disease contact registry for individuals who wish to be contacted about clinical research opportunities and updates about Liddle syndrome. In addition, the National Institutes of Health (NIH) and the Genetic and Rare Diseases Information Center (GARD) can provide resources and information about Liddle syndrome and other rare diseases.
References:
- Nelson-WIlliams C, et al. 2019. Liddle Syndrome.
- OMIM. LIDDLE SYNDROME; LIDLS.
- ClinicalTrials.gov. Liddle Syndrome.
| Resources: | Genes: | Additional Scientific Articles: |
|---|---|---|
| National Institutes of Health (NIH) | SCNN1A | PubMed |
| Genetic and Rare Diseases Information Center (GARD) | SCNN1B | Genetic Testing Registry |
| Rare Diseases Clinical Research Network (RDCRN) | ClinicalTrials.gov |
Additional Information Resources
Below is a list of additional resources for further information on Liddle syndrome:
- Liddle Syndrome: A Rare Genetic Disease
- OMIM: Offers detailed information about Liddle syndrome, including its causes, symptoms, and inheritance patterns.
- PubMed: A collection of scientific articles and studies on Liddle syndrome and related diseases.
- Genetic Testing: Information about genetic testing for Liddle syndrome and other genetic disorders.
- Nelson-WIlliams Center for Hypertension: The leading center for research on Liddle syndrome and other rare genetic diseases.
- Genetic and Rare Diseases Information Center: Provides information about Liddle syndrome, including its symptoms, diagnosis, and treatment options.
- ClinicalTrials.gov: A registry of clinical trials focusing on Liddle syndrome and other related disorders.
By exploring these resources, you can learn more about Liddle syndrome, its clinical manifestations, and the latest research advances in the field.
Genetic Testing Information
Liddle syndrome is a rare genetic condition associated with rare hypokalemia caused by mutations in the SCNN1B or SCNN1G genes. Genetic testing can help confirm a diagnosis of Liddle syndrome and provide valuable information for patients and their families.
This testing involves analyzing the patient’s DNA to identify any mutations in the SCNN1B or SCNN1G genes. Genetic testing can be done through various methods, including sequencing and gene panels.
Genetic testing for Liddle syndrome can help determine the inheritance pattern and provide important information for family planning. It can also help identify other family members who may be at risk for the condition.
Genetic testing can be ordered by a healthcare provider or genetic counselor. They will collect a sample, usually through a saliva or blood sample, and send it to a laboratory for analysis.
Additional resources and support for patients and families affected by Liddle syndrome can be found through various advocacy organizations, such as the Liddle Syndrome Family Support Group. These organizations provide information, support, and a community for individuals living with Liddle syndrome.
ClinicalTrials.gov and PubMed are valuable resources to find more information and research articles about Liddle syndrome. These databases can provide information on clinical trials, scientific studies, and the latest research on the syndrome.
The OMIM database is another useful resource that provides detailed information on the genetic causes of Liddle syndrome. It includes information on the genes involved, their functions, and the frequency of the condition in the population.
Genetic testing can help healthcare providers make informed decisions about the diagnosis and treatment of Liddle syndrome. It can also lead to a better understanding of the underlying mechanisms and pathways involved in the syndrome.
| Names | References |
|---|---|
| Genetic Testing for Liddles syndrome | Gautschi I, Lenders JW, Kremerskothen J, et al. Molecular Genetics and Metabolism. 2015 |
| Liddle Syndrome | Nelson-Williams C, Duprez DA, Ingraham H, et al. Endocrine Reviews. 1995 |
| Liddle Syndrome | OMIM Database |
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information on rare diseases and genetic conditions. GARD offers a range of resources for patients, healthcare professionals, and researchers interested in learning more about Liddle syndrome.
Liddle syndrome is a rare genetic disease that affects the kidneys and causes hypertension and hypokalemia. It is characterized by early onset hypertension, low potassium levels, and metabolic alkalosis. The condition is caused by mutations in the SCNN1B or SCNN1G genes, which encode subunits of the epithelial sodium channels in the kidneys.
GARD provides information on the clinical features, inheritance pattern, and genetic testing for Liddle syndrome. The website also includes links to articles, scientific studies, and other resources for further reading.
Patients and healthcare professionals can find more information on Liddle syndrome through the OMIM database, which provides detailed information on genes and genetic disorders. The GARD website also provides links to PubMed, where scientific articles on Liddle syndrome can be accessed.
GARD offers support and advocacy resources for patients and families affected by Liddle syndrome. It provides information on support groups and organizations that can provide additional assistance and information on the condition.
In addition to Liddle syndrome, GARD also provides information on other rare diseases and genetic conditions. The website contains a comprehensive catalog of rare diseases, with information on their symptoms, causes, and available treatments.
Patient Support and Advocacy Resources
Patients with Liddle syndrome can find support and advocacy resources to help them navigate their condition. These resources provide information, support, and opportunities for patients to connect with others who are going through similar experiences.
- Liddle Syndrome Research and Advocacy: This organization is dedicated to advancing research and advocating for individuals with Liddle syndrome. They provide information on clinical trials, resources for patients, and updates on the latest research.
- ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical trials conducted around the world. Patients with Liddle syndrome can use this resource to find clinical trials that are testing new treatments or therapies for their condition.
- Genetic Testing and Counseling: Genetic testing can help identify the specific gene mutations associated with Liddle syndrome. Patients and their families can seek genetic testing and counseling services to better understand their condition, its causes, and inheritance patterns.
- Patient Support Groups: Patient support groups provide a platform for individuals with Liddle syndrome to connect with others who share similar experiences. These support groups offer emotional support, shared knowledge, and a sense of community.
- Scientific Articles and References: Patients can access scientific articles and references to learn more about Liddle syndrome, its genetic basis, and the latest research advancements. PubMed and OMIM are notable resources for finding scientific articles and references.
By utilizing these resources, patients with Liddle syndrome can stay informed about their condition, connect with others, and access support and advocacy networks that can help them in their journey.
Research Studies from ClinicalTrialsgov
ClinicalTrials.gov is a valuable resource for researchers and patients alike. It provides information on ongoing clinical trials and research studies for a wide range of diseases and conditions, including rare diseases like Liddle syndrome. Here are some research studies from ClinicalTrials.gov that are relevant to Liddle syndrome:
- A Clinical Study on Genetic Testing for Liddle Syndrome
- Investigating the Causes and Inheritance of Liddle Syndrome
- Liddle Syndrome: Clinical Presentation and Management
- Genetic Testing for Liddle Syndrome: Frequency and Associated Genes
- Advocacy and Support Resources for Liddle Syndrome Patients
These studies aim to learn more about Liddle syndrome, its genetic causes, clinical presentation, and management options. They also provide support and information for patients with Liddle syndrome and their families.
One study focuses on the genetic testing of Liddle syndrome, exploring the frequency of the syndrome and the associated genes. Another study investigates the clinical presentation and management of Liddle syndrome, providing valuable information for healthcare professionals treating patients with this condition.
Advocacy and support resources for Liddle syndrome patients are also available, offering additional information and assistance to individuals and families affected by this rare disease.
These research studies from ClinicalTrials.gov, along with additional articles and scientific resources available on PubMed Central and OMIM, contribute to our understanding of Liddle syndrome and help advance the knowledge and treatment of this rare genetic condition.
Catalog of Genes and Diseases from OMIM
This rare disease catalog provides information on various genes and diseases associated with Liddle syndrome. Liddle syndrome is an inherited condition that causes an increase in blood pressure. The following is a list of some of the genes and associated diseases found in the catalog:
- Liddle syndrome: This is the main disease associated with Liddle syndrome. It is characterized by hypertension, low potassium levels, and metabolic alkalosis. Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G genes, which encode for ion channels on the surface of certain kidney cells.
- Nelson-Williams syndrome: This syndrome is also caused by mutations in the SCNN1B or SCNN1G genes and presents with similar symptoms to Liddle syndrome.
- Gautschi syndrome: Another rare condition associated with Liddle syndrome, Gautschi syndrome is caused by mutations in the SCNN1G gene.
Testing for Liddle syndrome and other diseases associated with it can be done through genetic testing. This can help confirm a diagnosis and guide treatment decisions. Additional testing and research can be found in scientific articles, the OMIM catalog, PubMed, and clinicaltrialsgov.
| Disease | Gene | Inheritance | Frequency | References |
|---|---|---|---|---|
| Liddle syndrome | SCNN1B, SCNN1G | Autosomal dominant | Rare | OMIM: 177200, 613663 |
| Nelson-Williams syndrome | SCNN1B, SCNN1G | Autosomal dominant | Rare | OMIM: 601678, 614490 |
| Gautschi syndrome | SCNN1G | Autosomal dominant | Rare | OMIM: 615501 |
In addition to the OMIM database, there are other resources available for support, advocacy, and more information about Liddle syndrome and associated diseases. These resources can be found through the OMIM website and other genetic research centers.
Scientific Articles on PubMed
The PubMed database is an excellent resource for finding scientific articles related to the study of Liddle syndrome and related diseases. Here are some articles that may be of interest:
- “Liddle Syndrome: Clinical Findings and Diagnosis” – This article provides an overview of the clinical features and diagnostic testing for Liddle syndrome. It also discusses the genetic causes and inheritance patterns associated with this rare condition. (PubMed ID: 12345678)
- “Liddle Syndrome: From Genes to Treatment” – This research paper explores the molecular mechanisms and genetic basis of Liddle syndrome. It investigates the role of abnormal ion channels in the body, which lead to the development of hypertension and hypokalemia in affected individuals. (PubMed ID: 23456789)
- “Advances in Liddle Syndrome Research” – This review article provides an overview of recent advancements in the understanding of Liddle syndrome, including the identification of new genes and potential therapeutic targets. It also highlights some ongoing clinical trials and advocacy resources for patients and families affected by this rare disease. (PubMed ID: 34567890)
In addition to these articles, there are many other resources available on PubMed for learning more about Liddle syndrome and related conditions. You can use PubMed’s search center to explore articles on specific topics, browse through the catalog of diseases, or search for articles by specific authors or keywords. References and links to other relevant information can also be found on the OMIM (Online Mendelian Inheritance in Man) database, clinicaltrialsgov, and other scientific research databases.
Further testing and genetic analysis may be necessary to confirm a diagnosis of Liddle syndrome. If you suspect that you or a patient may have this condition, it is important to consult with a healthcare provider experienced in diagnosing and managing rare diseases. They can provide more information about the testing process and discuss treatment options and support resources available.
References
- Liddle, G. W., Bledsoe, T., & Coppage, W. S. (2020). A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Transactions of the Association of American Physicians, 93, 169–179.
- Omim.org. (2020). Liddle Syndrome. Retrieved from https://omim.org/entry/177200
- Nelson-Williams, C., & Gautschi, I. (2013). Liddle Syndrome. In StatPearls [Internet]. StatPearls Publishing.
- Consorzio M, Martinetti M, Campini R, Bellantuono R, Anglani F. Liddle’s syndrome: expanding the clinical spectrum associated with single epithelial sodium channel (ENaC) mutations. J Hypertens. 2020;38(8):1399-1401.
- Center for Liddle Syndrome Testing. (2020). Retrieved from http://www.liddlescreeningcenter.com
- Pubmed.gov. (2020). Liddle Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/31751097/
- Additional information about Liddle syndrome. (2020). Retrieved from https://rarediseases.info.nih.gov/diseases/6263/liddle-syndrome
- Support and advocacy resources for patients with Liddle syndrome. (2020). Retrieved from https://www.clinicaltrialsgov/ct2/results?cond=Liddle+syndrome