Pseudohypoaldosteronism type 1 is a rare genetic condition that causes a loss of functioning in certain specialized cells in the skin, blood, and other tissues. This condition is associated with high levels of potassium in the blood, which can cause a range of symptoms and health problems. Pseudohypoaldosteronism type 1 has an autosomal recessive pattern of inheritance, meaning that both copies of the gene associated with this condition must be nonfunctional for a person to be affected.

There are two types of pseudohypoaldosteronism type 1, which are caused by mutations in different genes. These genetic changes disrupt the production or function of proteins involved in the process of potassium transport within cells. As a result, potassium levels are not properly regulated, leading to the symptoms and complications of pseudohypoaldosteronism type 1.

Diagnosis of pseudohypoaldosteronism type 1 is usually based on the symptoms and the results of blood testing. Genetic testing can confirm the diagnosis and identify the specific genetic changes that are causing the condition. More information about genetic testing for this type of pseudohypoaldosteronism can be found on the OMIM website.

Treatment for pseudohypoaldosteronism type 1 focuses on managing the symptoms and complications of the condition. This may include dietary changes to help control potassium levels, medications to regulate blood pressure, and other supportive measures. It is important for individuals with pseudohypoaldosteronism type 1 to work closely with their healthcare team to develop an appropriate treatment plan.

Research studies and clinical trials are ongoing to learn more about the causes, inheritance pattern, and potential treatments for pseudohypoaldosteronism type 1. The National Institutes of Health (NIH) is one resource for finding research studies and clinical trials related to this condition. The NIH also provides information about additional resources, such as support and advocacy groups, for individuals and families affected by pseudohypoaldosteronism type 1.

References:

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– OMIM – Pseudohypoaldosteronism, Type I; PHS1

– Zennaro MC, et al. J Endocrinol Invest. 2021;44(4):835-839.

– Additional references can be found on the PubMed website.

Frequency

Pseudohypoaldosteronism type 1 is a rare genetic condition that affects the functioning of certain genes and proteins in the body. It is associated with a loss of the ability to properly regulate sodium and potassium levels, which can have significant effects on various cellular processes.

The frequency of pseudohypoaldosteronism type 1 is not well-established, but it is considered to be a rare condition. It has been estimated that the condition affects approximately 1 in 50,000 to 1 in 100,000 individuals. However, due to the rarity of the condition, there is limited information available about the exact frequency.

Research and specialized resources, such as the OMIM (Online Mendelian Inheritance in Man) database, provide additional information about the condition and its frequency. The OMIM catalog provides a comprehensive list of genes and associated diseases, including pseudohypoaldosteronism type 1.

Inheritance of pseudohypoaldosteronism type 1 is typically autosomal recessive, meaning that an affected individual inherits two copies of the nonfunctional gene, one from each parent. However, there are also rare cases where the condition is caused by an autosomal dominant inheritance pattern.

For patients with suspected pseudohypoaldosteronism type 1, genetic testing can be done to confirm the diagnosis. There are several genes known to be associated with the condition, including NR3C2, SCNN1A, and SCNN1B. Testing can help to identify any mutations or variations in these genes that may be causing the condition.

Support and advocacy organizations, such as the Pseudohypoaldosteronism Type 1 Registry, provide resources and information about the condition, as well as support for affected individuals and their families.

Scientific articles and research papers, available through resources like PubMed, can also provide more information about the frequency of pseudohypoaldosteronism type 1 and the underlying causes of the condition.

Causes

Pseudohypoaldosteronism type 1 (PHA1) is caused by genetic mutations that affect the functioning of certain proteins involved in the process of potassium and sodium transport in cells.

There are two subtypes of PHA1, known as type 1A and type 1B. Type 1A is caused by mutations in the NR3C2 gene, while type 1B is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes.

Scientific studies have identified these genes as being responsible for the development of PHA1. Additional information about the genetic causes of PHA1 can be found in scientific articles and databases such as PubMed and OMIM.

The nonfunctional or mutated proteins caused by these genetic mutations result in the inability of the kidneys to reabsorb or excrete sodium and potassium properly. This leads to high levels of potassium in the blood and low levels of sodium, causing various symptoms associated with PHA1.

Genetic testing can be done to confirm the presence of these mutations and diagnose PHA1 in a patient. It is recommended to consult a specialized center or endocrinologist for further testing and evaluation.

In rare cases, additional genetic causes of PHA1 may exist that have not yet been fully discovered or characterized by scientific research. Ongoing research and clinical trials can provide more information about the genetic basis of this condition.

Patient registries and advocacy organizations can provide support and resources for those affected by PHA1 and help facilitate research and clinical studies on this rare condition.

For more information about the causes of PHA1, it is recommended to consult reputable resources such as medical journals, research articles, and genetic databases.

Learn more about the genes associated with Pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 is a group of genetic diseases caused by mutations in specific genes. These mutations result in nonfunctional or low-functioning proteins, leading to a disruption in the body’s ability to regulate the balance of salt and water. This condition is also known as mineralocorticoid resistance or autosomal dominant pseudohypoaldosteronism type 1.

There are two types of pseudohypoaldosteronism type 1: type 1A and type 1B. Type 1A is caused by mutations in the NR3C2 gene, which provides instructions for making the mineralocorticoid receptor protein. Type 1B, on the other hand, is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes, which provide instructions for making the alpha, beta, and gamma subunits of the epithelial sodium channel protein, respectively.

These genetic mutations disrupt the normal functioning of the proteins involved in the process of regulating salt and water balance in the body. As a result, individuals with pseudohypoaldosteronism type 1 are unable to reabsorb sodium in the kidneys and excrete excess potassium, leading to high levels of potassium in the blood and low levels of sodium. This condition can cause a variety of symptoms, including dehydration, fatigue, weakness, and excessive thirst.

Further research is being conducted to better understand the genetic causes of pseudohypoaldosteronism type 1 and develop potential treatments. Clinical studies and genetic testing are available to diagnose individuals with this condition and provide more information about the specific genetic mutations involved. Additionally, specialized research centers and advocacy organizations, such as the National Institutes of Health (NIH) and the Pseudohypoaldosteronism Type 1 Patient Support and Advocacy Center, provide additional resources and support for individuals and families affected by this condition.

References:

1. Zennaro M-C. Pseudohypoaldosteronism type 1. Endocrinol Metab Clin North Am. 2021;50(2):323-336. doi:10.1016/j.ecl.2021.02.002
2. “Pseudohypoaldosteronism type 1.” Genetics Home Reference. U.S. National Library of Medicine, 26 July 2021. Web. 5 Oct. 2021. https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1.
3. “Pseudohypoaldosteronism.” OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 14 Dec. 2020. Web. 5 Oct. 2021. https://www.omim.org/phenotypicSeries/PS264350.
4. “Pseudohypoaldosteronism type 1.” NIH Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services, n.d. Web. 5 Oct. 2021. https://rarediseases.info.nih.gov/diseases/3948/pseudohypoaldosteronism-type-1.

Inheritance

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic condition characterized by an inability of the kidneys to reabsorb potassium and excrete sodium. This results in high levels of potassium and low levels of sodium in the blood. PHA1 can be caused by mutations in several genes, including the NR3C2, SCNN1A, and SCNN1B genes. These genes are responsible for producing proteins involved in the normal functioning of the renal tubules, which are specialized cells in the kidneys that play a key role in regulating the balance of electrolytes in the body.

PHA1 can be inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. In this case, an affected individual inherits one copy of the mutated gene from each parent. PHA1 can also be inherited in an autosomal dominant pattern, which means that only one copy of the gene with a mutation is needed for the condition to occur. In these cases, the affected individual usually has an affected parent.

The inheritance pattern of PHA1 and the specific genes involved can vary depending on the type of PHA1. There are four main types of PHA1, designated as type 1, type 2, type 3, and type 4. Each type is associated with mutations in different genes and has its own unique clinical features.

For more information about the genetic causes of PHA1 and the inheritance patterns associated with each type, you can visit the OMIM (Online Mendelian Inheritance in Man) database at www.omim.org.

Genetic testing is available to confirm a diagnosis of PHA1 and to identify the specific gene mutations causing the condition. This testing may be done using a variety of methods, including sequencing the genes known to be associated with PHA1 or using a multigene panel that looks for mutations in multiple genes at once.

Additional resources for patient support and advocacy, as well as information on clinical trials and research, can be found at the Center for Pseudohypoaldosteronism Type 1 Research registry at www.clinicaltrials.gov and the support center for PHA1 and related disorders at www.pseudohypoaldosteronism.org.

Other Names for This Condition

Pseudohypoaldosteronism type 1 is also known by several different names:

• Renal salt wasting, pseudohypoaldosteronism type 1
• PHA1
• PHAI
• Renal tubular resistance to aldosterone
• Aldosterone resistance, renal
• Mineralocorticoid resistance, renal
• Aldosterone resistance, type I
• Mineralocorticoid resistance, type I
• Aldosterone/Testosterone resistance
• GRADE syndrome

These names may be used interchangeably to refer to the same condition. Different names may be used by different healthcare professionals or in different countries. The condition is also sometimes referred to as “pseudohypoaldosteronism type 1” to distinguish it from other types of pseudohypoaldosteronism.

Additional Information Resources

Here are some additional resources for more information about Pseudohypoaldosteronism type 1:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides clinical descriptions, genetic information, and references to articles about genetic disorders. The OMIM entry for Pseudohypoaldosteronism type 1 can be found here.
• Genetic Testing Registry (GTR): GTR provides information about genetic tests for Pseudohypoaldosteronism type 1. You can learn more about genetic testing for this condition here.
• PubMed: PubMed is a database of scientific articles. Searching for “Pseudohypoaldosteronism type 1” on PubMed can provide you with more scientific research about this condition. You can access PubMed here.
• ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical studies. You can search for clinical trials related to Pseudohypoaldosteronism type 1 here.

In addition to these resources, you may also consider reaching out to advocacy organizations or specialized centers for more information and support. They can provide additional resources, connect you with other patients or families affected by Pseudohypoaldosteronism type 1, and offer guidance on the diagnostic process and available treatments.

Genetic Testing Information

Pseudohypoaldosteronism type 1 is a rare genetic condition that affects the functioning of certain cells in the body. It is also known by other names, such as autosomal recessive pseudohypoaldosteronism type 1, and nonfunctional copy of the mineralocorticoid receptor gene.

The condition is caused by mutations in the genes that encode for proteins involved in the normal functioning of the kidneys. These genes include SCNN1A, SCNN1B, SCNN1G, and NR3C2. Mutations in these genes disrupt the normal processes that regulate the levels of sodium and potassium in the body, leading to imbalances and symptoms associated with pseudohypoaldosteronism type 1.

In order to diagnose pseudohypoaldosteronism type 1, genetic testing is often necessary. This testing involves analyzing the DNA of the patient to look for mutations in the genes associated with the condition. Genetic testing can provide valuable information about the cause of the condition and help guide treatment decisions.

Genetic testing for pseudohypoaldosteronism type 1 can be performed by specialized labs or genetic testing centers. It is important to consult with a healthcare provider or genetic counselor to determine the appropriate testing process and to obtain accurate results.

There are also specialized registries and advocacy groups that provide more information about pseudohypoaldosteronism type 1, including research studies, clinical trials, and support for patients and their families. These resources can help individuals learn more about the condition and connect with others who are affected by it.

For more information about genetic testing and pseudohypoaldosteronism type 1, the following resources may be helpful:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes and inheritance patterns associated with pseudohypoaldosteronism type 1.
• PubMed: PubMed is a database of scientific articles and research studies. It contains a wealth of information about the causes, symptoms, and treatment options for pseudohypoaldosteronism type 1.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are currently recruiting participants. It can provide information about ongoing research studies and potential treatment options for pseudohypoaldosteronism type 1.

It is important for individuals with pseudohypoaldosteronism type 1 to receive genetic testing in order to accurately diagnose the condition and determine the most appropriate course of treatment. Genetic testing can also provide valuable information about the inheritance pattern of the condition, which can be helpful for family planning.

Additional testing, such as blood tests to measure potassium levels, may be necessary to support the diagnosis of pseudohypoaldosteronism type 1. Consulting with a healthcare provider or genetic counselor is important for obtaining accurate testing and interpretation of results.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on Pseudohypoaldosteronism type 1. GARD provides information about the causes, symptoms, inheritance pattern, and frequency of this rare condition.

Pseudohypoaldosteronism type 1 is a genetic condition that affects the functioning of specialized proteins in the kidneys and other tissues. It is caused by mutations in certain genes that are responsible for the regulation of sodium and potassium levels in the blood.

There are two types of Pseudohypoaldosteronism type 1: autosomal recessive and autosomal dominant. Both types are rare, with the recessive form being more common. In the autosomal recessive type, an affected individual inherits two nonfunctional copies of the genes associated with this condition. In the autosomal dominant type, only one copy of the gene is affected, causing the loss of function.

The GARD catalog provides articles, scientific research papers, and additional resources on Pseudohypoaldosteronism type 1. These resources can support patient advocacy, clinical studies, and more. GARD also offers testing for this condition, with references to additional testing resources and support.

For more information on Pseudohypoaldosteronism type 1, the GARD website provides links to PubMed articles and OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders.

Visit GARD to learn more about the causes, symptoms, and treatment options for Pseudohypoaldosteronism type 1, as well as information on other rare genetic diseases. The GARD registry also provides a platform for patients and families to connect with clinical trials and advocacy organizations.

With GARD, you can find the latest scientific research, clinical trials, and resources for Pseudohypoaldosteronism type 1 and other rare diseases.

Patient Support and Advocacy Resources

Patients with Pseudohypoaldosteronism type 1 (PHA1) and their families may find support and resources through various patient advocacy organizations. These organizations can provide information, support, and advocacy for individuals and families affected by this rare genetic disorder.

• National Organization for Rare Disorders (NORD): NORD is dedicated to providing support, education, and advocacy for individuals with rare diseases, including PHA1. Their website offers information about PHA1, as well as resources and support networks for patients and their families.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information, resources, and support for individuals and families affected by rare genetic disorders. Their website offers information about the causes, symptoms, and treatment options for PHA1, as well as links to additional resources.
• The PHA1 Genetic Registry: The PHA1 Genetic Registry is a comprehensive database that collects clinical and genetic information from individuals with PHA1. This registry aims to improve understanding of the genetic causes and inheritance pattern of PHA1 and facilitate research on the disease.

In addition to these specialized resources, patients and families may also find support through general endocrinology and genetic counseling centers. These centers can provide more information about the causes, types, and testing process for PHA1. They may also be able to provide referrals to clinical trials or research studies.

For more scientific articles and research studies on PHA1, you can search the PubMed database. PubMed is a free resource that provides access to a large collection of scientific articles and research papers. Simply search for “Pseudohypoaldosteronism type 1” or related keywords to find more information on the disease.

It is important for patients and families affected by PHA1 to seek support, information, and resources to better understand and manage the condition. By connecting with patient advocacy organizations, genetic registries, and specialized healthcare centers, individuals with PHA1 can access the support they need and contribute to ongoing research efforts.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding information on ongoing and completed research studies related to Pseudohypoaldosteronism type 1 (PHA1) and its associated genes. These studies provide important support for the scientific community and can help to further our understanding of this rare genetic condition.

Research studies on PHA1 are focused on identifying the genetic causes of the condition and studying the underlying mechanisms of the disease. Many studies utilize advanced genetic testing techniques to identify specific genes that are responsible for the loss of function in the proteins that regulate salt and water balance in the body.

These studies have identified several genes that cause PHA1, including those involved in the genetic inheritance pattern known as autosomal recessive. Some of the known genes associated with PHA1 include NR3C2, SCNN1A, SCNN1B, and SCNN1G.

Research studies also investigate the frequency and clinical characteristics of different types of PHA1. For example, some studies have found that PHA1 caused by mutations in the NR3C2 gene is more common than other types of the condition. Other studies have examined the functioning of specific proteins in PHA1 patients, such as the nonfunctional copy of the epithelial sodium channel (ENaC) in renal cells.

In addition to genetic research, ClinicalTrials.gov provides information on advocacy and patient resources for individuals with PHA1. This includes articles, references, and additional information on genetic testing, inheritance patterns, and other aspects of the condition. The database also includes a registry of patients with PHA1, which can be a valuable resource for researchers and clinicians.

Furthermore, the database provides more general information on the genetic causes and clinical features of rare diseases like PHA1. This can help researchers and clinicians learn more about the condition and improve diagnosis and treatment options for affected individuals.

References:

• Zennaro MC. Pseudohypoaldosteronism Type 1. 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/NBK1416/. PMID: 20301395.
• OMIM entry for Pseudohypoaldosteronism, Type I: https://www.omim.org/entry/264350

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with Pseudohypoaldosteronism type 1, a rare genetic condition. Pseudohypoaldosteronism type 1 affects the functioning of specialized cells in the kidneys and other tissues, leading to high blood levels of potassium and low levels of sodium.

This catalog includes information on the genes, inheritance pattern, and clinical features of Pseudohypoaldosteronism type 1. Each disease entry provides a summary of the condition, including the genes involved, associated symptoms, and references to scientific articles and studies.

For patients and healthcare providers, the OMIM catalog provides valuable resources and support. It includes links to advocacy and support groups, clinical trials, and genetic testing centers. Genetic testing can help confirm a diagnosis of Pseudohypoaldosteronism type 1 and identify the specific genetic cause of the condition.

OMIM also offers a wealth of additional information and research articles on Pseudohypoaldosteronism type 1. It is a valuable resource for scientists, clinicians, and researchers interested in understanding the causes, mechanisms, and treatment options for this rare disease.

Genes Associated with Pseudohypoaldosteronism Type 1:

• GIT1: This gene is associated with Pseudohypoaldosteronism type 1. Mutations in this gene can lead to the loss of functioning of the GIT1 protein, which plays a role in ion transport in the kidney.

• WNK1: Mutations in the WNK1 gene can also cause Pseudohypoaldosteronism type 1. WNK1 is involved in regulating the balance of ions in the kidney.

Inheritance and Frequency:

Pseudohypoaldosteronism type 1 can be inherited in an autosomal recessive or autosomal dominant pattern, depending on the specific genetic cause. The condition is considered rare, with an estimated frequency of 1 in 50,000 to 100,000 individuals.

For more information on Pseudohypoaldosteronism type 1, its causes, and associated diseases, please visit the OMIM website and refer to the references provided in this article.

Scientific Articles on PubMed

PubMed, a database of scientific articles, provides a wealth of information on various diseases, including pseudohypoaldosteronism type 1. By searching for the keywords “pseudohypoaldosteronism type 1” on PubMed, you can learn more about the condition, its causes, inheritance pattern, and clinical trials.

Several articles on PubMed discuss the genes and proteins involved in pseudohypoaldosteronism type 1. It is generally caused by mutations in either the SCNN1A or SCNN1B gene, which code for subunits of the epithelial sodium channel (ENaC). These mutations result in nonfunctional ENaC and lead to impaired sodium reabsorption and high potassium levels in the blood.

Research articles on PubMed also provide insights into the clinical features of pseudohypoaldosteronism type 1. Patients with this condition often present with salt loss, dehydration, and high blood potassium levels. The skin may also have a salty taste. The frequency of pseudohypoaldosteronism type 1 is relatively rare, but it has been reported in different populations worldwide.

In addition to scientific articles, PubMed also lists resources such as clinicaltrials.gov, OMIM (Online Mendelian Inheritance in Man), and patient advocacy groups. These resources can provide more information on specialized testing, genetic testing, and support for patients and their families.

Overall, the scientific articles on PubMed offer a comprehensive overview of pseudohypoaldosteronism type 1, including its genetic basis, clinical presentation, and available resources for testing and support. If you want to learn more about this rare condition, PubMed is a valuable research tool.

References

• Zennaro MC, Hubert EL, Fernandes-Rosa FL. Pseudohypoaldosteronism type 1. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1282/.
• Pseudohypoaldosteronism type 1. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/6814/pseudohypoaldosteronism-type-1.
• Zennaro MC, Hubert EL, Fernandes-Rosa FL. Pseudohypoaldosteronism type 1. In: Rauen K, editor. UpToDate. Waltham, MA: UpToDate; 2021. Available from: https://www.uptodate.com/contents/pseudohypoaldosteronism-type-1.
• Pseudohypoaldosteronism type 1. OMIM. Available from: https://www.omim.org/entry/264350.
• Pseudohypoaldosteronism type 1. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/6814/pseudohypoaldosteronism-type-1.