Autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia, also known as ADH, is a rare inherited syndrome characterized by low levels of calcium in the blood. It is caused by mutations in the CASR gene, which encodes the calcium-sensing receptor. This gene plays a crucial role in maintaining the body’s calcium balance.

ADH is inherited in an autosomal dominant manner, meaning that a person with one affected gene has a 50% chance of passing the condition on to their children. In some cases, ADH may occur as a result of a de novo mutation, meaning it arises spontaneously in the affected individual and is not inherited from either parent.

Patients with ADH may experience a variety of clinical manifestations, ranging from mild to severe. Symptoms can include muscle twitching, numbness or tingling in the extremities, seizures, and in rare cases, life-threatening arrhythmias. Additionally, some patients may have associated hypoparathyroidism, a condition characterized by low levels of parathyroid hormone.

Diagnosis of ADH is made through genetic testing, which can identify mutations in the CASR gene. Other tests, such as blood calcium and magnesium levels, as well as hormone testing, may also be performed to support the diagnosis. Additional clinical resources and information on ADH can be found on reputable websites such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD).

Currently, there is no cure for ADH, but treatment aims to manage symptoms and prevent complications. This may involve calcium and vitamin D supplementation, as well as magnesium replacement therapy. Regular monitoring of blood calcium levels is important to prevent calcium deficiency or excess. Patients and their families may also benefit from support and advocacy resources, such as patient support groups and organizations that provide information on research and clinical trials.

Frequency

The frequency of autosomal dominant hypocalcemia is not well established. The condition is rare, and its exact prevalence is unknown. However, autosomal dominant hypocalcemia is thought to be a relatively uncommon disorder.

Autosomal dominant hypocalcemia is caused by mutations in the calcium-sensing receptor (CASR) gene, which is responsible for regulating the body’s calcium levels. Mutations in the CASR gene can cause the receptor to be less responsive to changes in calcium levels, resulting in low blood calcium levels.

According to the OMIM and GeneReviews articles, autosomal dominant hypocalcemia occurs in about 1 in every 150,000 to 200,000 individuals. However, these estimates may not accurately reflect the true frequency of the condition, as many cases may go undiagnosed or be misdiagnosed as other disorders.

Autosomal dominant hypocalcemia can also occur as part of a syndrome called Bartter syndrome type 5, which is characterized by the loss of magnesium and other electrolytes in the urine. Mutations in the CLDN16 or CLDN19 genes can cause Bartter syndrome type 5, and these same genes are also associated with autosomal dominant hypocalcemia.

Further research and genetic testing are needed to better understand the frequency and inheritance patterns of autosomal dominant hypocalcemia. ClinicalTrials.gov and PubMed are valuable resources for finding information on ongoing studies and scientific articles about this condition.

  • The Calcium-Sensing Receptor Gene Catalog (CaSRGC) is a database that provides information about the genetic variations associated with autosomal dominant hypocalcemia.
  • The Hypoparathyroidism Association is an advocacy and support group for patients with hypoparathyroidism and related disorders, including autosomal dominant hypocalcemia. They provide information about the condition, resources for patients, and support for research.

Learn more about autosomal dominant hypocalcemia and other related diseases on the Genetic and Rare Diseases Information Center (GARD) website. GARD provides information for patients, families, and healthcare professionals.

Causes

Autosomal dominant hypocalcemia is primarily caused by mutations in the calcium-sensing receptor (CASR) gene. However, other genes may also be associated with this condition.

Research has shown that mutations in the CASR gene disrupt the normal functioning of the calcium-sensing receptor, which plays a crucial role in maintaining calcium homeostasis in the body. The calcium-sensing receptor helps regulate the release of parathyroid hormone, which is responsible for maintaining calcium levels in the blood.

Scientific studies and genetic research support the association between CASR gene mutations and autosomal dominant hypocalcemia. Additional information about the CASR gene and its role in this condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog.

In some cases, autosomal dominant hypocalcemia can also be caused by mutations in other genes, such as those associated with Bartter syndrome or hypoparathyroidism. These genetic conditions can affect the body’s ability to regulate calcium and magnesium levels.

If you want to learn more about the genetic causes of autosomal dominant hypocalcemia, there are numerous articles and references available on PubMed, a reputable scientific database. By searching for keywords such as “autosomal dominant hypocalcemia” or “CASR gene,” you can find more information on the topic.

Genetic testing may be recommended for patients suspected of having autosomal dominant hypocalcemia. This testing can help identify specific gene mutations and provide useful information for clinical management.

It is important to note that autosomal dominant hypocalcemia is a rare condition, and the frequency of CASR gene mutations in the general population is relatively low. However, more research and advocacy efforts are being conducted to better understand this condition and provide support for patients and their families.

For additional resources and information on autosomal dominant hypocalcemia, you can visit websites such as the National Institutes of Health (NIH), the Hormone Health Network, and ClinicalTrials.gov. These resources offer valuable information about the condition, ongoing research studies, and potential treatment options.

Learn more about the genes associated with Autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia is a rare condition that leads to low levels of calcium in the blood. It is caused by mutations in the calcium-sensing receptor gene (CASR) and can be inherited from one affected parent. Autosomal dominant hypocalcemia can also occur sporadically, meaning there is no family history of the condition.

The calcium-sensing receptor gene (CASR) provides instructions for making a protein that is involved in regulating the level of calcium in the body. Mutations in this gene can cause the receptor to be overly sensitive or less responsive to changes in calcium levels. This leads to lower levels of calcium in the blood and can result in symptoms such as muscle twitching, seizures, and abnormal heart rhythms.

There are other genes that have been associated with autosomal dominant hypocalcemia, such as GNA11 and AP2S1. Mutations in these genes can also disrupt the normal regulation of calcium levels in the body.

Scientific studies and research articles have provided valuable insights into the genetics and clinical characteristics of autosomal dominant hypocalcemia. These resources can be found on PubMed, OMIM (Online Mendelian Inheritance in Man), and other medical research databases.

Genetic testing can be done to confirm a diagnosis of autosomal dominant hypocalcemia. This involves analyzing the CASR, GNA11, and AP2S1 genes for any mutations. Genetic testing can also be helpful for family members of affected individuals who may be at risk of inheriting the condition.

In addition to genetic testing, there are other resources available to support patients with autosomal dominant hypocalcemia. Advocacy organizations provide information, support, and resources for patients and their families. ClinicalTrials.gov is a database that lists ongoing research studies and clinical trials related to autosomal dominant hypocalcemia and other diseases.

See Also:  Fumarase deficiency

Learning more about the genes associated with autosomal dominant hypocalcemia can help improve understanding of the condition and lead to advancements in treatment and management. It is important to stay informed about the latest research and advances in the field.

References:

  • Bartter FC. Hypocalciuric hypercalcaemia. A heterogeneous disorder graced by many names. Am J Med. 1976 May;60(5):736-51. doi: 10.1016/0002-9343(76)90434-9. PMID: 935971.
  • Catalogue of somatic mutations in cancer (COSMIC) database. Available from: https://cancer.sanger.ac.uk/cosmic.
  • Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK61999/.

Inheritance

Autosomal dominant hypocalcemia is a genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

The main gene associated with autosomal dominant hypocalcemia is the calcium-sensing receptor gene (CASR). Mutations in this gene disrupt the normal function of the calcium-sensing receptor, which is responsible for regulating the levels of calcium in the body. These mutations can lead to decreased calcium levels and subsequent symptoms of hypocalcemia.

Research studies have also identified additional genes that can cause autosomal dominant hypocalcemia, such as the GNA11 gene. Mutations in these genes can lead to similar symptoms as mutations in the CASR gene, including low calcium levels and related symptoms.

Clinical and genetic testing can be used to diagnose autosomal dominant hypocalcemia. This testing can identify the specific gene mutation responsible for the condition in an affected individual or confirm a diagnosis based on clinical symptoms.

It is important for patients and their families to understand the inheritance pattern of autosomal dominant hypocalcemia and the associated risk of passing the condition on to future generations. Genetic counseling and testing can provide more information and support for individuals and families affected by this condition.

There is ongoing research and studies to learn more about the causes, frequency, and clinical features of autosomal dominant hypocalcemia. This information can help improve diagnosis and treatment options for affected individuals.

Additional resources and support can be found through advocacy organizations, such as the Calcium-Sensing Receptor Disorders Foundation. These organizations provide information and support for patients and families affected by autosomal dominant hypocalcemia and other related diseases.

More information about autosomal dominant hypocalcemia can be found in scientific articles and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources contain references to research articles and clinical trials that provide further information on the condition.

Other Names for This Condition

Autosomal dominant hypocalcemia is also known by several other names:

  • Autosomal dominant hypocalcemia with hypercalciuria and nephrocalcinosis
  • ADHH
  • Pseudohypoparathyroidism type 1B
  • Hypocalcemia, autosomal dominant hypercalciuric
  • Hypocalcemia, autosomal dominant hypoparathyroidism with hypercalciuria

This condition is associated with mutations in the calcium-sensing receptor (CASR) gene. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the mutation to each of their children.

Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood, which can cause symptoms such as muscle cramps, twitching, and tingling sensations. It is typically diagnosed through genetic testing, and treatment may involve supplementation with calcium and vitamin D.

More information about autosomal dominant hypocalcemia, including clinical studies and resources for patient support, can be found on the websites of OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide additional information on the causes, symptoms, and inheritance patterns of this condition, as well as scientific articles and research studies.

Additional Information Resources

Here are some additional resources for learning more about Autosomal Dominant Hypocalcemia:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic diseases. You can find more information about Autosomal Dominant Hypocalcemia and related genes on their website. Visit www.omim.org for more details.
  • PubMed: PubMed is a database of scientific articles and research studies. You can search for articles about Autosomal Dominant Hypocalcemia, its causes, associated conditions, and more on PubMed. Access pubmed.ncbi.nlm.nih.gov for further information.
  • Hormone Health Network: The Hormone Health Network provides patient education and advocacy resources for various endocrine conditions. They have valuable information about Autosomal Dominant Hypocalcemia on their website. Learn more at www.hormone.org.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and ongoing research. You can find information about clinical trials, new treatments, and studies related to Autosomal Dominant Hypocalcemia. Visit clinicaltrials.gov to explore this further.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare genetic conditions and connects patients with support groups. They have resources and support options available for Autosomal Dominant Hypocalcemia. Access their website at rarediseases.info.nih.gov for more details.

These resources will provide you with additional information, scientific research, genetic testing, patient support, and clinical studies about Autosomal Dominant Hypocalcemia and its associated conditions.

Genetic Testing Information

Autosomal dominant hypocalcemia is a genetic condition that affects the body’s ability to regulate calcium levels. It is also known as calcium-sensing receptor-associated autosomal dominant hypocalcemia or Bartter syndrome type V.

This syndrome is caused by mutations in the CASR gene, which provides instructions for making a protein called the calcium-sensing receptor. The calcium-sensing receptor helps regulate the amount of calcium in the body by sensing changes in blood calcium levels and adjusting the production of parathyroid hormone accordingly.

Patients with autosomal dominant hypocalcemia have lower levels of calcium in their blood, which can lead to symptoms such as muscle twitches, spasms, and seizures. They may also experience low levels of parathyroid hormone and higher levels of magnesium.

Genetic testing can be used to confirm a diagnosis of autosomal dominant hypocalcemia. This testing usually involves sequencing the CASR gene to look for specific mutations that are known to cause the condition.

Additional information about the genetics of autosomal dominant hypocalcemia can be found in the OMIM database, which provides detailed information on specific genes and inherited conditions. Scientific articles and studies related to this condition can be found on PubMed, a resource for scientific research.

Patients and their families can get support and more information about autosomal dominant hypocalcemia from advocacy groups and organizations that specialize in rare genetic diseases. ClinicalTrials.gov may also have information on current clinical trials and research studies for this condition.

Resources:

Genetic testing and learning more about the genes and causes of autosomal dominant hypocalcemia can provide valuable information for patients and their healthcare providers in managing this condition.

Patient Support and Advocacy Resources

Patients diagnosed with Autosomal Dominant Hypocalcemia (ADH) and their families may find support and advocacy resources helpful in managing their condition. These resources can provide additional information about the syndrome, its causes, and inheritance patterns, as well as offer support for patients and their families.

  • Online Support Groups: Joining online support groups can connect patients with others who are experiencing or have experienced ADH. It allows for sharing of experiences, information, and emotional support.
  • Patient Advocacy Organizations: Several organizations focus on advocating for patients with rare diseases including ADH. These organizations offer resources such as educational materials, referrals, and support networks.
  • Scientific Research: Staying informed on the latest scientific research can help patients and their families understand the condition and potential treatments. PubMed is a valuable resource for finding scientific articles and studies related to ADH.
  • ClinicalTrials.gov: This website provides information on clinical trials that are currently being conducted for ADH. Patients may have the opportunity to participate in these studies and contribute to advancements in research and treatment.
  • Genetic Testing and Counseling: Genetic testing can provide information about the specific genes that cause ADH. Genetic counselors can help patients understand the results and the inheritance pattern of the condition.
  • Support for Associated Diseases: ADH is often associated with other conditions such as hypoparathyroidism and Bartter syndrome. Resources and support groups focused on these conditions can provide additional information and support for patients.
  • Additional Resources: Other sources of information on ADH include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed gene-related information, and the Endocrinology section of PubMed, which contains relevant articles on ADH and related conditions.
See Also:  EXT2 gene

By availing themselves of these patient support and advocacy resources, patients with Autosomal Dominant Hypocalcemia can gain a better understanding of their condition, connect with other individuals and families facing the same challenges, and stay informed about the latest developments in research and treatment options.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about autosomal dominant hypocalcemia. These studies catalog the frequency of this condition and investigate its causes and associated genes.

Through these research studies, scientists and healthcare professionals can learn more about autosomal dominant hypocalcemia and develop better treatments for patients.

ClinicalTrialsgov is a comprehensive database that provides information on ongoing and completed research studies. It is a valuable resource for scientists and healthcare professionals interested in autosomal dominant hypocalcemia.

Some of the research studies from ClinicalTrialsgov on autosomal dominant hypocalcemia include:

  • A study on the role of the calcium-sensing receptor gene in autosomal dominant hypocalcemia
  • Research on the inheritance patterns and genetic causes of autosomal dominant hypocalcemia
  • Clinical trials on new treatments and therapies for autosomal dominant hypocalcemia
  • Studies on the prevalence and frequency of autosomal dominant hypocalcemia in different populations

These research studies provide important information on the condition, its causes, and potential treatment options. They also support advocacy efforts for patients with autosomal dominant hypocalcemia and help raise awareness about this rare hormone-related condition.

Additional information on autosomal dominant hypocalcemia can also be found on PubMed, a database of scientific articles and references. PubMed provides a wealth of information on the condition, its associated genes, and other related diseases.

Overall, research studies from ClinicalTrialsgov and other resources provide valuable insights into autosomal dominant hypocalcemia. They contribute to our understanding of the condition and help improve the diagnosis, treatment, and support available to patients.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides valuable information about the inheritance patterns, causes, clinical features, and additional resources for various diseases.

Autosomal Dominant Hypocalcemia (ADH) is a condition characterized by low calcium levels in the blood due to the malfunctioning of the calcium-sensing receptor (CASR) gene. It is also known as familial hypocalciuric hypercalcemia type 1 (FHH1) or Bartter syndrome type V. ADH is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition.

Patients with ADH may experience symptoms such as muscle twitches, tetany, seizures, and abnormalities in the teeth and bones. The condition can be diagnosed through genetic testing to identify mutations in the CASR gene.

Studies and research have shown that ADH is associated with mutations in the CASR gene, leading to impaired calcium sensor function and dysregulation of parathyroid hormone secretion. Other genes, such as GNA11 and AP2S1, have also been found to be associated with ADH.

OMIM provides a wealth of information about ADH and other related disorders. It lists the genes and mutations associated with these conditions, as well as the clinical features and inheritance patterns. OMIM also references scientific articles, resources, and clinical trials related to ADH.

For more information about ADH and related conditions, you can visit the OMIM website and explore the available resources, including references to scientific articles and genetic studies.

OMIM: https://omim.org/

PubMed: https://pubmed.ncbi.nlm.nih.gov/

ClinicalTrials.gov: https://clinicaltrials.gov/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to autosomal dominant hypocalcemia, a genetic condition characterized by low levels of calcium in the blood. Patients with this condition often experience symptoms such as muscle twitching and spasms.

Research articles on PubMed provide information about the causes, inheritance patterns, and associated clinical features of autosomal dominant hypocalcemia. They also explore the role of specific genes, such as the calcium-sensing receptor gene, in the development of this condition.

Studies on PubMed have identified additional genes, such as those associated with Bartter syndrome and hypoparathyroidism, that can also cause autosomal dominant hypocalcemia. These genes are important to consider when testing for the condition.

The frequency of autosomal dominant hypocalcemia in the general population is not well-known. However, PubMed articles suggest that it may occur more frequently than previously thought, as it is often underdiagnosed or misdiagnosed due to its overlapping features with other diseases.

Through PubMed, patients and healthcare providers can access scientific articles that provide essential information about the condition, its symptoms, and potential treatment options. These articles can support advocacy efforts and help patients better understand their own genetic condition.

PubMed also offers resources such as OMIM (Online Mendelian Inheritance in Man), which provides cataloged information and references to genetic diseases and genes associated with autosomal dominant hypocalcemia.

In addition to PubMed, clinicaltrialsgov is another valuable resource for finding more information about ongoing research and clinical trials related to autosomal dominant hypocalcemia.

By exploring scientific articles on PubMed, patients, researchers, and healthcare providers can learn more about autosomal dominant hypocalcemia, its genetic causes, and potential treatment options.

References

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