CASR gene

Published Categorized as Genetics
CASR gene

The CASR gene, also known as the calcium-sensing receptor gene, is a gene that is involved in regulating the body’s response to changes in the levels of calcium and other minerals. It is located on chromosome 3 and is responsible for producing a protein called the calcium-sensing receptor.

The calcium-sensing receptor is found in various tissues and organs, including the parathyroid glands, kidney, and bone. It plays a crucial role in maintaining the balance of calcium in the body. When the calcium levels in the blood are too high, the calcium-sensing receptor triggers the release of a hormone called calcitonin, which helps to lower the levels of calcium. On the other hand, when the calcium levels are too low, the receptor triggers the release of parathyroid hormone (PTH), which increases calcium levels by stimulating the reabsorption of calcium from the kidneys.

Changes in the CASR gene can lead to a variety of health conditions. Mutations in the gene can cause autosomal dominant hypocalcemia, a condition characterized by low levels of calcium in the blood. This can lead to symptoms such as muscle cramps, numbness, and tingling, as well as an increased risk of kidney stones.

Understanding the function of the CASR gene and its role in calcium regulation is crucial for diagnosing and managing related conditions. Scientific articles and databases, such as OMIM and PubMed, provide valuable information on the gene and its associated disorders. Genetic testing can help identify mutations in the gene and provide sensitive information for patients and their families.

The CASR gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, along with other genes related to calcium metabolism and parathyroid disorders. The National Institutes of Health’s Genetic Testing Registry also provides resources for testing options and relevant scientific references.

In conclusion, the CASR gene is an important gene involved in regulating calcium levels in the body. Understanding its function and related conditions can provide crucial information for diagnosing and managing diseases such as hypercalcemia, hypocalcemia, and hyperparathyroidism. Further research is needed to fully understand the role of this gene in human health and to develop targeted therapies for related disorders.

Health Conditions Related to Genetic Changes

The CASR gene is associated with various health conditions caused by genetic changes. Genetic changes, also known as variants, in the CASR gene can lead to the development of several conditions related to the kidneys and glands responsible for calcium levels in the body.

One of the main health conditions associated with genetic changes in the CASR gene is familial hypocalciuric hypercalcemia (FHH). FHH is an autosomal dominant disorder that causes high levels of calcium in the blood. This condition is characterized by impaired calcium reabsorption in the kidneys, leading to hyperparathyroidism.

Another related condition is neonatal severe hyperparathyroidism (NSHPT), which is a rare genetic disorder caused by mutations in the CASR gene. NSHPT results in high levels of calcium and parathyroid hormone in newborns, leading to severe hypercalcemia and disrupted calcium homeostasis.

The Online Mendelian Inheritance in Man (OMIM) catalog provides information on these conditions, along with scientific articles and references related to genetic changes in the CASR gene. The OMIM catalog lists several names for these conditions, including familial hypocalciuric hypercalcemia, familial benign hypercalcemia, and neonatal isolated hyperparathyroidism.

Genetic testing for CASR gene variants can help diagnose these conditions and guide treatment decisions. The CASR gene is an essential regulator of calcium-sensing and plays a central role in maintaining calcium homeostasis. Variants in this gene can trigger dysregulation of calcium levels, leading to various health conditions related to the kidneys and glands.

Condition OMIM ID
Familial Hypocalciuric Hypercalcemia OMIM:145980
Neonatal Severe Hyperparathyroidism OMIM:239200

These conditions can cause a range of symptoms and should be properly diagnosed and managed by healthcare professionals. Individuals with genetic changes in the CASR gene may have an increased risk of developing these conditions and should consult healthcare providers for appropriate testing and guidance.

For more information and resources related to genetic changes in the CASR gene and associated health conditions, databases such as PubMed, ClinVar, and the Calcium-Sensing Receptor-Related Disorders Registry provide additional articles, references, and testing resources.

Autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia is a genetic condition characterized by low calcium levels in the blood. It is caused by mutations in the CASR gene, which codes for the calcium-sensing receptor.

Individuals with this condition may experience symptoms such as muscle cramps, tingling sensations, and seizures. They may also have abnormally high levels of parathyroid hormone, a condition known as hyperparathyroidism.

The CASR gene plays a crucial role in regulating calcium levels in the body. Mutations in this gene can disrupt the function of the calcium-sensing receptor, leading to decreased reabsorption of calcium by the kidneys. This reduction in calcium reabsorption causes hypocalcemia.

Autosomal dominant hypocalcemia is often diagnosed based on an individual’s symptoms and family history. Genetic testing can be used to confirm the presence of a CASR gene mutation. This testing can be performed using a blood sample or other genetic material.

Resources such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles provide additional information on autosomal dominant hypocalcemia. The OMIM database contains information on various genes, including CASR, and their associated diseases and conditions.

Patients and healthcare providers can find information on genetic testing and related resources through organizations such as the Genetic Testing Registry (GTR) and the Genetic and Rare Diseases Information Center (GARD). These resources can provide information on testing laboratories, available tests, and references for scientific articles.

It is important for individuals with autosomal dominant hypocalcemia to work closely with their healthcare providers to manage their condition. Treatment may involve calcium and vitamin D supplements to maintain appropriate calcium levels in the body.

It should be noted that autosomal dominant hypocalcemia is distinct from other related conditions, such as familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. The specific genetic changes and manifestations of these conditions can differ from autosomal dominant hypocalcemia.

  • Autosomal dominant hypocalcemia: caused by mutations in the CASR gene, resulting in low calcium levels in the blood
  • Familial hypocalciuric hypercalcemia: another condition caused by CASR gene mutations, characterized by high levels of calcium in the blood and decreased calcium excretion in the urine
  • Neonatal severe hyperparathyroidism: a rare genetic disorder characterized by extremely high levels of calcium in the blood and an overactive parathyroid gland

In conclusion, autosomal dominant hypocalcemia is a genetic condition caused by mutations in the CASR gene. This leads to low calcium levels and can result in symptoms such as muscle cramps and tingling sensations. Genetic testing can be used to confirm the presence of CASR gene mutations, and resources such as OMIM provide additional information on this condition.

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Familial isolated hyperparathyroidism

Familial isolated hyperparathyroidism is a genetic condition that causes an overactive parathyroid gland, leading to high levels of calcium in the blood (hypercalcemia). This condition is not related to other diseases or health disorders. Familial isolated hyperparathyroidism is caused by mutations in the CASR gene, which provides instructions for making proteins involved in the function of the parathyroid glands.

The CASR gene is listed in various genetic databases and scientific articles as one of the genes involved in familial isolated hyperparathyroidism. Mutations in this gene can trigger the overactivity of the parathyroid glands, causing hyperparathyroidism. Additionally, certain variants of the CASR gene can prevent the reabsorption of calcium by the kidneys, leading to hypocalciuric hypercalcemia.

Patients with familial isolated hyperparathyroidism may experience symptoms such as kidney stones, bone changes, and additional health conditions related to high levels of calcium. Testing for mutations in the CASR gene and other genes involved in hyperparathyroidism can be sensitive and specific for diagnosing familial isolated hyperparathyroidism.

The Online Mendelian Inheritance in Man (OMIM) database provides further information and references related to familial isolated hyperparathyroidism and the CASR gene.

Resources and information about testing and management of familial isolated hyperparathyroidism can be found through genetic clinics and registries, as well as health organizations and scientific publications.

Kidney stones

Kidney stones are a common condition that affects the kidneys. They are formed when there is an imbalance of certain minerals and substances in the urine. The CASR gene, also known as the calcium-sensing receptor gene, is involved in regulating the levels of calcium in the body and plays a role in preventing the formation of kidney stones.

Hypercalcemia, or high levels of calcium in the blood, can cause kidney stones. The CASR gene helps to prevent hypercalcemia by regulating the reabsorption of calcium in the kidneys. When this gene is mutated or not functioning properly, it can lead to changes in the calcium levels and increase the risk for kidney stone formation.

There are databases and resources available, such as OMIM and PubMed, where you can find articles and references related to the CASR gene and kidney stones. These databases provide information on genetic testing, genetic conditions, and other health conditions related to the CASR gene. They can also be used to filter and search for specific information on kidney stones and the CASR gene.

One specific variant of the CASR gene, called the hypercalciuric hypocalciuric variant, is associated with kidney stones. This variant is sensitive to changes in calcium levels and can trigger the formation of kidney stones in patients. Additional genetic tests can be done to identify this variant and determine the risk for kidney stone formation.

In patients with hyperparathyroidism, a condition characterized by excessive secretion of parathyroid hormone, the CASR gene may also be involved in the formation of kidney stones. This hormone is responsible for regulating calcium levels in the body, and when the CASR gene is not functioning properly, it can lead to abnormal levels of calcium and the formation of kidney stones.

Overall, the CASR gene plays a central role in regulating calcium levels and preventing the formation of kidney stones. Understanding its function and the conditions and diseases associated with it can help in the diagnosis and management of patients with kidney stones.

Other disorders

While the CASR gene mutations are commonly associated with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), they have also been shown to be involved in other disorders related to calcium regulation.

One such disorder is isolated hypoparathyroidism. This condition is characterized by low levels of parathyroid hormone, leading to hypocalcemia. Mutations in the CASR gene can affect the function of the calcium-sensing receptor, causing decreased levels of parathyroid hormone and leading to symptoms of hypocalcemia.

Another disorder associated with CASR gene mutations is benign familial hypocalciuric hypercalcemia (BFHH). In this condition, the calcium-sensing receptor is less sensitive to changes in calcium levels, resulting in persistent hypercalcemia. BFHH is usually inherited in an autosomal dominant manner.

CASR gene mutations have also been identified in patients with hyperparathyroidism-jaw tumor syndrome (HPT-JT). This rare condition is characterized by the development of parathyroid tumors and tumors of the jaw. Mutations in the CASR gene can cause dysregulation of calcium levels, leading to the development of these tumors.

Additionally, the CASR gene has been linked to conditions such as kidney stones, renal calcium reabsorption disorders, and other kidney-related diseases. Changes in the function of the calcium-sensing receptor can impact calcium reabsorption in the kidneys, leading to the development of these conditions.

Scientific resources such as OMIM and PubMed provide valuable information on the genetic changes associated with CASR gene mutations and their role in various disorders. Genetic testing is available to diagnose these disorders and identify the specific CASR gene mutation causing the condition. Health catalogs and registries also help gather information on patients with CASR gene mutations and related disorders, facilitating research and improving patient care.

In summary, the CASR gene mutations are not only associated with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), but also with other disorders related to calcium regulation, such as isolated hypoparathyroidism, benign familial hypocalciuric hypercalcemia (BFHH), hyperparathyroidism-jaw tumor syndrome (HPT-JT), and various kidney-related diseases.

Other Names for This Gene

The CASR gene is also known by other names, including:

  • Calcium-sensing receptor gene: This gene is involved in regulating the levels of calcium in the body and is sensitive to changes in calcium levels. It plays a vital role in maintaining the health of the parathyroid gland and the reabsorption of calcium by the kidneys.
  • CASR: CASR is the abbreviation for the Calcium-sensing receptor gene.
  • Familial hypocalciuric hypercalcemia 1, calcium-sensing receptor variant: This is a specific variant of the CASR gene that is associated with familial hypocalciuric hypercalcemia, a condition characterized by high levels of calcium in the blood and low levels of calcium in the urine.
  • HHC, calcium-sensing receptor variant: HHC stands for hypocalciuric hypercalcemia and refers to the condition caused by the calcium-sensing receptor variant of the CASR gene.

Additional names for this gene may be found in scientific publications, genetic databases, and other resources.

Additional Information Resources

Here are some additional resources for more information on the CASR gene and related topics:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on gene-related diseases, including hyperparathyroidism and disorders related to the CASR gene. You can find articles, references, and genetic testing information for different diseases. Visit the OMIM website at https://www.omim.org.
  • PubMed: PubMed is a scientific resource that provides access to a vast collection of research articles. You can search for specific terms like “CASR gene” or “hyperparathyroidism” to find more information on the genetic changes and clinical function of the CASR gene. Access PubMed at https://pubmed.ncbi.nlm.nih.gov.
  • Scientific Catalogs and Databases: Various scientific catalogs and databases list the CASR gene and related genes involved in calcium homeostasis and kidney function. These resources can provide further information on the gene and its variant. Examples include GenBank, GeneCards, and UniProt.
  • Health Websites: Health websites like Mayo Clinic and WebMD provide comprehensive information on various medical conditions, including hypocalcemia and hypercalcemia. Search for terms like “CASR gene” or “kidney disorders” to find articles and resources related to these topics.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a catalog of genetic tests for various health conditions. Listed here are the tests related to the CASR gene:

  • Autosomal dominant hypocalcemia, type 1 (ADH1): This genetic test detects mutations in the CASR gene, which is involved in regulating calcium levels in the body. Mutations in this gene can cause a condition called autosomal dominant hypocalcemia, characterized by low blood calcium levels.
  • Autosomal dominant hypocalcemia, type 2 (ADH2): This test also looks for mutations in the CASR gene, specifically for changes that affect its function. Mutations in this gene can lead to autosomal dominant hypocalcemia.
  • Autosomal dominant hypocalciuric hypercalcemia, type 1 (ADHH1): This test is used to identify mutations in the CASR gene that result in autosomal dominant hypocalciuric hypercalcemia. This condition is characterized by higher-than-normal levels of calcium in the blood due to reduced calcium excretion by the kidneys.
  • Autosomal dominant hypocalciuric hypercalcemia, type 2 (ADHH2): Similar to ADHH1, this test detects mutations in the CASR gene that cause autosomal dominant hypocalciuric hypercalcemia. However, the specific genetic changes involved in ADHH2 differ from those in ADHH1.

These tests are important in diagnosing and managing conditions related to the CASR gene. They can provide valuable information for doctors and patients, allowing for better understanding and appropriate treatment. For additional resources and information on these tests, you can refer to scientific articles, databases like OMIM and PubMed, and other genetic testing catalogs.

Scientific Articles on PubMed

PubMed is a comprehensive database for scientific articles related to various health conditions and genetic disorders. Here we list some of the articles available on PubMed that discuss the CASR gene and its role in calcium regulation.

1. “Mutations in the CASR gene cause autosomal dominant hypocalcemia”

This article explores how mutations in the CASR gene can lead to autosomal dominant hypocalcemia, a condition characterized by low levels of calcium in the blood. The study discusses the genetic changes involved and their impact on the function of the CASR gene.

2. “CASR gene mutations in patients with isolated neonatal hypocalcemia”

This study investigates the presence of CASR gene mutations in patients with neonatal hypocalcemia, a condition characterized by low levels of calcium in newborns. The researchers found that mutations in the CASR gene were a common cause of isolated neonatal hypocalcemia.

3. “CASR gene and its role in hyperparathyroidism and related conditions”

This article reviews the involvement of the CASR gene in hyperparathyroidism and related conditions. The study highlights the importance of the CASR gene in regulating calcium levels and the consequences of its dysfunction in these conditions.

4. “The role of CASR gene in kidney stone formation”

This study explores the link between CASR gene mutations and kidney stone formation. The researchers found that mutations in the CASR gene can lead to an impaired calcium-sensing function in the kidneys, which prevents efficient reabsorption of calcium and increases the risk of kidney stone formation.

5. “CASR gene testing: a critical resource for diagnosing calcium-related disorders”

This review article discusses the importance of CASR gene testing in diagnosing various calcium-related disorders. The study highlights the sensitivity and specificity of CASR gene testing and its role in identifying the underlying genetic mutations causing these conditions.

References:

  1. PubMed – www.ncbi.nlm.nih.gov/pubmed
  2. CASR gene – www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1518

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a resource that provides scientific information on genes and their related diseases. One of the genes listed in this catalog is the CASR gene, which is associated with familial hypocalcaemia and hyperparathyroidism.

Familial hypocalcaemia is a condition that prevents the kidneys from reabsorbing calcium properly, leading to low levels of calcium in the blood. It can cause symptoms such as hypocalcemia, kidney stones, and other related health problems.

The CASR gene is involved in regulating the levels of calcium in the body. A mutation in this gene can cause conditions such as familial hypocalcemia and hyperparathyroidism.

Hyperparathyroidism is a condition in which the parathyroid glands produce too much parathyroid hormone. This hormone normally helps regulate calcium levels in the body. However, in cases of hyperparathyroidism, there is an excessive production of this hormone, leading to high calcium levels in the blood.

The Catalog of Genes and Diseases from OMIM provides resources for genetic testing and additional information on related disorders. It includes a registry of patients with specific genetic changes involved in these conditions, as well as references to scientific articles from PubMed.

Gene Disease
CASR Familial Hypocalcaemia and Hyperparathyroidism

This catalog is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic diseases and their associated genes.

Gene and Variant Databases

The CASR gene is involved in the regulation of calcium levels in the body. Mutations in this gene can cause a range of diseases, including familial hypocalciuric hypercalcemia and isolated hypocalcemia. Genetic testing can identify these mutations and provide additional information about related conditions.

Gene and variant databases are valuable resources for patients and healthcare professionals seeking information on CASR gene mutations and their associated diseases. These databases contain curated information on genetic variants, their effects on gene function, and their role in causing specific diseases.

One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive resource for information on genetic disorders. OMIM provides a list of mutations in the CASR gene that have been found to cause hypocalcemia and hyperparathyroidism. Each mutation is described in detail, including its clinical significance and the associated phenotypic changes.

Another important database is the ClinVar database, which collects and curates information on genetic variants and their clinical significance. ClinVar provides references to scientific articles and other resources that contain information on CASR gene mutations and their role in disease. It also lists the genetic tests available for the CASR gene and provides information on how these tests can be used to diagnose and manage related conditions.

The Genetic Testing Registry (GTR) is another useful resource for patients and healthcare professionals. The GTR provides a centralized location for accessing information on genetic tests for the CASR gene and other related genes. It includes information on the purpose of the test, the method used, and the laboratories that offer the test. The GTR also provides information on the conditions for which the test is sensitive and the resources available for further information.

In conclusion, gene and variant databases such as OMIM, ClinVar, and GTR play a crucial role in providing information on CASR gene mutations and their associated diseases. These databases can help patients and healthcare professionals understand the genetic basis of calcium-related disorders and make informed decisions regarding testing and treatment options.

References

  1. OMIM® Online Mendelian Inheritance in Man. CASR Gene. Bethesda (MD): National Center for Biotechnology Information (US); 1985-2022.

  2. National Institutes of Health. CASR gene. Bethesda (MD): Genetic and Rare Diseases Information Center; 2014.

  3. Catalog of Genes and Diseases. CASR.

  4. Healthcare Provider Directory. CASR Genetic Testing.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.