Hypomagnesemia with secondary hypocalcemia, also known as combined hypomagnesemia and hypocalcemia, is a rare genetic condition that impairs the function of the kidneys’ convoluted tubules. This condition is associated with a variety of neurological and other diseases, including impaired renal function and failure. It is caused by mutations in many different genes, with inheritance patterns that are often autosomal recessive.

Patients with hypomagnesemia with secondary hypocalcemia may present with symptoms such as seizures, muscle spasms, and tetany, which are caused by the low levels of magnesium and calcium in the blood. The exact cause of the condition can vary depending on the specific gene mutation, and additional testing may be necessary to determine the underlying genetic cause in each patient.

Research studies have been conducted to better understand the causes and mechanisms of hypomagnesemia with secondary hypocalcemia. Scientific articles and references related to this condition can be found in the OMIM catalog, PubMed, and other research databases. Clinical trials and studies related to the condition can also be found on ClinicalTrials.gov, providing additional information and resources for patients and their families.

Support and advocacy organizations are available to provide information and support for individuals and families affected by hypomagnesemia with secondary hypocalcemia. These organizations can offer resources about the condition, clinical trials, genetic testing, and other relevant topics. They also play a role in raising awareness and funding for research to further understand and treat this rare genetic condition.

Frequency

Studies have shown that hypomagnesemia with secondary hypocalcemia is a rare condition. According to clinicaltrialsgov, information about the frequency of this condition is limited. However, it is believed to be a very rare disease, with only a few reported cases in the literature.

Hypomagnesemia with secondary hypocalcemia can be caused by various factors. The exact cause of this condition is not fully understood and further research is needed.

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According to pubmed, omim, and other scientific articles, several genes have been associated with hypomagnesemia with secondary hypocalcemia. These genes are involved in magnesium channel function in the convoluted tubules of the kidneys.

The frequency of hypomagnesemia with secondary hypocalcemia in the general population is not well-known, but it is considered to be a rare condition. This makes it challenging to gather sufficient patient samples for clinical trials and research studies.

More information about the frequency of hypomagnesemia with secondary hypocalcemia can be found in the references section of this article. Genetic testing and clinical trials are ongoing to learn more about the causes, inheritance patterns, and additional clinical features of this condition.

For more resources and support for patients and families affected by hypomagnesemia with secondary hypocalcemia, the Seyberth Hypomagnesemia with Secondary Hypocalcemia Catalog provides a comprehensive list of genes and information on this condition.

Causes

The primary cause of hypomagnesemia with secondary hypocalcemia is mutations in the TRPM6 gene. TRPM6 is a channel protein that is responsible for the reabsorption of magnesium in the convoluted tubules of the kidneys. Failure of this gene impairs the function of the tubules and leads to magnesium loss in the urine, resulting in hypomagnesemia.

The TRPM6 gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur. Many different mutations in the TRPM6 gene have been identified, and they can vary in severity and clinical manifestations.

Secondary causes of hypomagnesemia with secondary hypocalcemia include certain medications, such as diuretics and proton pump inhibitors, and certain medical conditions, such as chronic alcoholism and malabsorption syndromes. In these cases, the underlying condition or medication use impairs the body’s ability to absorb magnesium, leading to low levels in the blood.

In some rare cases, other genetic diseases may also be associated with hypomagnesemia. For example, mutations in the CLDN16 or CLDN19 genes can cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis, a condition characterized by excessive calcium excretion in the urine and the formation of calcium deposits in the kidneys.

More information about genetic testing for hypomagnesemia can be found on the Online Mendelian Inheritance in Man (OMIM) database and the ClinicalTrials.gov website. These resources provide information on ongoing research studies, clinical trials, and patient advocacy and support organizations related to hypomagnesemia and other genetic conditions.

Citation: Scientific references and articles on the frequency, names, and causes of hypomagnesemia with secondary hypocalcemia can be found on PubMed and ClinicalTrials.gov.

Learn more about the gene associated with Hypomagnesemia with secondary hypocalcemia

Hypomagnesemia with secondary hypocalcemia is a condition caused by genetic variants that impair the function of certain channel genes in the convoluted tubules of the kidneys. These genes play a crucial role in regulating the balance of magnesium and calcium in the body.

See also  STXBP1 gene

There have been numerous studies and research conducted to understand the genetic basis of this condition. Scientists have identified several genes that can cause hypomagnesemia with secondary hypocalcemia when they are not functioning properly. These genes are responsible for the transport of magnesium ions in the kidneys, and any mutations or deletions in these genes can disrupt this process.

If you want to learn more about the specific gene associated with hypomagnesemia with secondary hypocalcemia, there are various resources you can refer to:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for the gene associated with this condition, its function, inheritance frequency, and other relevant information.
  • PubMed: PubMed is a database of scientific articles, including research papers and clinical studies. You can find studies that have investigated the genetic causes and mechanisms of hypomagnesemia with secondary hypocalcemia.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials related to genetic research and treatment options for this condition. You can find studies that are investigating potential treatments or diagnostic methods.
  • Advocacy Organizations: There are advocacy organizations and patient support groups dedicated to hypomagnesemia and related disorders. These organizations often provide resources, articles, and additional information about the gene associated with hypomagnesemia with secondary hypocalcemia.

It is important to note that hypomagnesemia with secondary hypocalcemia is a rare condition, and comprehensive genetic testing may be required to identify the specific genetic cause in each patient. If you suspect you or a loved one may have this condition, it is best to consult with a healthcare professional for accurate diagnosis and appropriate management.

Inheritance

Hypomagnesemia with secondary hypocalcemia (HSH) has an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. The condition was first described by Seyberth et al. in 2009, and since then, genetic testing has become available to confirm the presence of mutations in the gene that cause HSH.

The cause of HSH can be traced back to mutations in the CLDN16 gene, also known as the paracellin-1 gene. This gene is responsible for encoding a protein involved in the function of the kidney tubules, where it helps regulate the reabsorption of magnesium and calcium. Mutations in this gene impair the function of the protein, leading to the characteristic low levels of magnesium and calcium seen in individuals with HSH.

Additional resources for learning about the inheritance and genetics of HSH can be found on the Online Mendelian Inheritance in Man (OMIM) website, as well as scientific articles available on PubMed. These resources provide more information on the frequency of the condition, associated genes, and other research studies conducted on HSH.

In terms of clinical trials and patient advocacy, the ClinicalTrials.gov website provides information on ongoing research studies for HSH and other related diseases. This can be a valuable resource for individuals seeking more information or opportunities to participate in clinical trials for HSH.

Overall, the inheritance of HSH is a rare genetic condition that causes hypomagnesemia with secondary hypocalcemia. Genetic testing, research studies, and patient advocacy have provided additional support and resources for understanding and managing this condition.

Other Names for This Condition

Hypomagnesemia with secondary hypocalcemia is also known by several other names:

  • Primary hypomagnesemia with secondary hypocalcemia
  • HSH
  • Hypomagnesemia with secondary hypoparathyroidism
  • Renal hypomagnesemia 2
  • HOMG2
  • Magnesium transport defect 2
  • Seyberth syndrome type 2
  • SGK1 deficiency
  • SNDI

These names are used to describe the same condition, which is a rare genetic disorder that impairs the function of the magnesium channels in the convoluted tubules of the kidneys. It is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene in order to develop the condition.

For more information about hypomagnesemia with secondary hypocalcemia and other related diseases, you can visit the following resources:

  • OMIM: Online Mendelian Inheritance in Man is a comprehensive database of human genes and genetic disorders. You can search for specific genes and learn more about the associated conditions.
  • PubMed: PubMed is a database of scientific articles and clinical studies. You can find more research papers and clinical trials related to hypomagnesemia with secondary hypocalcemia.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials for various diseases and conditions. You can search for clinical trials related to hypomagnesemia with secondary hypocalcemia and see if you or someone you know may be eligible to participate.

In addition, there are various patient advocacy and support groups that provide resources and information for individuals and families affected by this condition. They can offer support, additional information, and resources for genetic testing.

It is important to consult with a healthcare professional for a proper diagnosis and personalized treatment options.

Additional Information Resources

  • Guidelines and Recommendations: For more information on the diagnosis and management of hypomagnesemia with secondary hypocalcemia, consult the following resources:
    • OMIM (Online Mendelian Inheritance in Man): Provides comprehensive scientific information about the condition, including its genetic causes and inheritance patterns.
    • PubMed: Offers a wide range of research articles for further exploration of hypomagnesemia and its associated conditions.
    • ClinicalTrials.gov: Provides information about ongoing clinical trials that may be relevant to the treatment of hypomagnesemia with secondary hypocalcemia.
    • NIH NINDS (National Institute of Neurological Disorders and Stroke) Catalog: Offers a variety of publications and resources on neurological diseases and disorders, including hypomagnesemia.
  • Citation and References: The following references provide additional information on hypomagnesemia with secondary hypocalcemia and related topics:
    • Seyberth, H.W. (2017). Hypomagnesemia and Secondary Hypocalcemia, In GeneReviews® Pagon, R.A., et al. (Eds.). University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK409764/
    • Genetic Testing Registry, “Hypomagnesemia with secondary hypocalcemia” (https://www.ncbi.nlm.nih.gov/gtr/conditions/C0020676/): Offers information about genetic testing options for this condition.
  • Support and Advocacy Organizations: The following organizations provide support and advocacy for patients and families affected by hypomagnesemia with secondary hypocalcemia:
    • Hypomagnesemia Foundation: A nonprofit organization dedicated to providing support, education, and resources to individuals and families affected by hypomagnesemia and related conditions. Website: www.hypomagnesemiafoundation.org
    • Hypocalcemia Association: A patient-focused organization that offers support, resources, and advocacy for individuals with hypocalcemia and related disorders. Website: www.hypocalcemiaassociation.org
See also  FRAS1 gene

By exploring these additional information resources, you can learn more about the causes, clinical features, and treatment options for hypomagnesemia with secondary hypocalcemia. It is important to consult with healthcare professionals for personalized medical advice and testing.

Genetic Testing Information

Genetic testing can provide valuable information for patients and healthcare professionals to better understand the underlying causes of hypomagnesemia with secondary hypocalcemia. By undergoing genetic testing, individuals can learn about the specific genetic mutations that may be responsible for their condition.

Genetic testing can be performed to identify mutations in genes associated with hypomagnesemia and secondary hypocalcemia. Some of the genes that have been found to cause this condition include CLCNKB, CNNM2, EGF, FXYD2, HNF1B, KCNJ1, and SLC12A3. Testing for these gene mutations can help determine if a patient has a genetic cause for their hypomagnesemia.

There are several resources available for individuals interested in genetic testing. One option is to speak with a healthcare professional about the testing process and available options. Another resource is the Online Mendelian Inheritance in Man (OMIM) database, which contains information about the genetics of diseases and associated genes.

Additionally, scientific articles and studies published in PubMed and other scientific journals provide valuable information about the genetic causes of hypomagnesemia with secondary hypocalcemia. These articles can support research and provide a deeper understanding of the condition.

In some cases, individuals may consider participating in clinical trials or research studies aimed at further understanding the genetic and neurological factors involved in hypomagnesemia. Websites such as ClinicalTrials.gov can provide information about ongoing studies and trials related to this condition.

Advocacy groups and organizations also provide support and information for individuals with hypomagnesemia with secondary hypocalcemia. These organizations often offer additional resources, patient support, and educational materials about the condition and genetic testing options.

Overall, genetic testing has the potential to provide valuable insights into the genetic causes of hypomagnesemia with secondary hypocalcemia. By understanding the specific gene mutations that contribute to this condition, healthcare professionals can develop targeted treatment strategies and improve patient outcomes.

Patient Support and Advocacy Resources

Patients with hypomagnesemia with secondary hypocalcemia may benefit from various resources that provide support, advocacy, and information about their condition. These resources can help patients better understand the causes, symptoms, and treatment options for this rare genetic disorder.

One important resource is the Magnesium Research Database from the ClinicalTrials.gov website. This database provides information on ongoing clinical trials related to magnesium function and genetic disorders. Patients can search for studies that are investigating the causes and treatment of hypomagnesemia with secondary hypocalcemia, as well as other related conditions.

Another valuable resource is PubMed, a comprehensive database of scientific articles and research studies. Patients can search for articles on the neurological and clinical manifestations of hypomagnesemia, as well as the underlying genes and inheritance patterns associated with this condition.

The Online Mendelian Inheritance in Man (OMIM) database is also a useful resource for patients. OMIM provides information on the genetic causes of various diseases, including hypomagnesemia with secondary hypocalcemia. Patients can access detailed information about the genes and gene variants that are implicated in this condition, as well as references to relevant scientific literature.

Genetic testing companies, such as Genet, offer testing services for hypomagnesemia with secondary hypocalcemia. These tests can identify specific gene mutations or variants that may be causing the condition. Patients can consult with genetic counselors and healthcare professionals to learn more about the testing process and its implications.

Support and advocacy organizations, such as the Calcium Channelopathy Advocacy Group, can provide additional assistance to patients and their families. These organizations offer resources such as educational materials, support groups, and opportunities to participate in research studies and clinical trials.

Patients with hypomagnesemia with secondary hypocalcemia should take advantage of these resources to learn more about their condition and connect with others who may be facing similar challenges. By learning from others’ experiences, patients can become better advocates for their own health and well-being.

Research Studies from ClinicalTrialsgov

Introduction

Magnesium plays a crucial role in various bodily functions, including nerve function and muscle contraction. Hypomagnesemia is a condition characterized by low levels of magnesium in the blood. In some cases, hypomagnesemia can lead to secondary hypocalcemia, which is a condition characterized by low levels of calcium in the blood. This article aims to provide information about research studies on hypomagnesemia with secondary hypocalcemia.

Genetic Studies

  • Genetic studies have identified several genes associated with hypomagnesemia with secondary hypocalcemia. These genes include TRPM6, CNNM2, EGFEM1 and CLDN16.
  • Researchers have conducted gene testing to determine the frequency of these genetic mutations in patients with the condition.
See also  Hereditary spherocytosis

Clinical Trials

  • Clinical trials have been conducted to study the effectiveness of different treatments for hypomagnesemia with secondary hypocalcemia.
  • These trials aim to identify the causes of the condition, improve patient outcomes, and develop new treatment options.

Advocacy and Support

  • Advocacy organizations and support groups play a crucial role in providing information and support to patients and their families.
  • These organizations provide resources about the condition, genetic inheritance, and available treatment options.

Scientific Articles

  • Scientific articles on hypomagnesemia with secondary hypocalcemia provide additional information about the condition.
  • These articles discuss the genetics, causes, and neurological effects of the condition.

References

  1. Seyberth, HW. Hypomagnesemia with secondary hypocalcemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1206/. Accessed October 13, 2021.
  2. ClinicalTrials.gov. Hypomagnesemia with Secondary Hypocalcemia. Available from: https://clinicaltrials.gov/ct2/results?cond=Hypomagnesemia+with+Secondary+Hypocalcemia&term=&cntry=&state=&city=&dist=. Accessed October 13, 2021.
  3. OMIM. Convoluted Tubules, Hypomagnesemia, and Hypocalciuria; HOMG; Hypomagnesemia-hypocalciuria Disease. Available from: https://omim.org/entry/248250. Accessed October 13, 2021.
  4. PubMed. Hypomagnesemia with Secondary Hypocalcemia. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Hypomagnesemia+with+Secondary+Hypocalcemia. Accessed October 13, 2021.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is an online catalog of genes and genetic disorders. It provides comprehensive information on various genetic conditions, including hypomagnesemia with secondary hypocalcemia.

The catalog includes the names of genes associated with the condition, such as TRPM6 and CLDN16. These genes are involved in the regulation of magnesium and calcium levels in the body.

Hypomagnesemia with secondary hypocalcemia is a rare condition that causes low levels of magnesium and calcium in the blood. It can be caused by genetic mutations in the TRPM6 and CLDN16 genes, which impair the function of renal tubules involved in the reabsorption of these minerals.

Patients with this condition may experience symptoms such as convoluted neurological abnormalities, seizures, and cardiac arrhythmias. Hypomagnesemia with secondary hypocalcemia can also lead to renal failure.

Genetic testing can be done to confirm the diagnosis of hypomagnesemia with secondary hypocalcemia. OMIM provides additional resources and information on genetic testing, as well as advocacy and support groups for patients and their families.

OMIM also includes scientific articles and studies on hypomagnesemia with secondary hypocalcemia from PubMed, a database of scientific research articles. The catalog provides references and citations for these articles, allowing researchers and healthcare professionals to learn more about the condition and the genes associated with it.

In addition, OMIM provides information on ongoing clinical trials related to hypomagnesemia with secondary hypocalcemia through clinicaltrialsgov. These trials evaluate potential treatments and management strategies for the condition.

Overall, OMIM’s catalog of genes and diseases is a valuable resource for researchers, healthcare professionals, and patients seeking information on rare genetic conditions like hypomagnesemia with secondary hypocalcemia.

Scientific Articles on PubMed

There are many scientific articles available on PubMed that discuss the condition known as Hypomagnesemia with secondary hypocalcemia. This rare condition is characterized by low levels of magnesium and calcium in the blood, which can cause various neurological and cardiovascular symptoms.

In studies conducted on this condition, researchers have identified several genes associated with hypomagnesemia, including TRPM6 and CNNM2. These genes play a key role in the function of renal tubules, where they are responsible for the reabsorption of magnesium. Mutations in these genes can lead to the development of hypomagnesemia.

Research on the inheritance patterns of hypomagnesemia with secondary hypocalcemia has shown that it can be inherited in an autosomal recessive or dominant manner. This means that the condition can be passed down from both parents or from just one parent who carries the mutated gene.

Advocacy organizations and genetic testing resources provide additional support for patients and their families affected by hypomagnesemia with secondary hypocalcemia. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for learning about the genes and causes of this condition.

Scientific articles published on PubMed provide further information about the clinical manifestations, testing, and treatment options for hypomagnesemia with secondary hypocalcemia. These articles cite other research and provide valuable references for further exploration of the topic.

Many clinical trials are being conducted to investigate the causes and treatment of hypomagnesemia. Information about these trials can be found on ClinicalTrials.gov, a database of clinical research.

Overall, scientific articles and research on PubMed and other reputable sources provide a wealth of knowledge on hypomagnesemia with secondary hypocalcemia, helping to improve our understanding of this condition and develop better treatment strategies.

References

  • Seyberth HW. Hereditary primary renal hypomagnesemia. Front Pediatr. 2018;6:207.
  • Vargas-Poussou R, et al. Primary renal hypomagnesemia: from isolated

    disorder to complex genetic disease. Pediatr Nephrol. 2018;33(4):595-604.

  • Lin SH, et al. Genetic diagnosis and therapy of Bartter & Gitelman

    syndromes. Genet Med. 2008;10(12):886-899.

  • Markus SC, et al. Renal tubular disorders. In: Pediatric

    Kidney Disease

    . 2nd ed. Springer; 2017:887-911.
  • Genetic and Rare Diseases Information Center (GARD). Hypomagnesemia with

    secondary hypocalcemia. GARD. Accessed October 20, 2022.

  • National Organization for Rare Disorders (NORD). Hypomagnesemia with

    secondary hypocalcemia. NORD. Accessed October 20, 2022.

  • ClinicalTrials.gov. Hypomagnesemia. ClinicalTrials.gov.

    Accessed October 20, 2022.

  • Online Mendelian Inheritance in Man (OMIM). Gene associations

    with hypomagnesemia with secondary hypocalcemia. OMIM.

    Accessed October 20, 2022.

  • PubMed. Articles about hypomagnesemia with secondary hypocalcemia.

    PubMed. Accessed October 20, 2022.

  • Advocacy organizations. Support and resources for hypomagnesemia

    with secondary hypocalcemia. Accessed October 20, 2022.