The FGF23 gene is involved in regulating the metabolism of phosphate in the body. It is primarily expressed in tissues such as the kidneys, where it plays a crucial role in maintaining phosphate balance. Mutations in the FGF23 gene can lead to various conditions such as hypophosphatemic rickets and hyperphosphatemia.

The FGF23 gene encodes a protein known as fibroblast growth factor 23 (FGF23), which acts as a hormone and regulates phosphate levels in the blood. It does this by inhibiting the reabsorption of phosphate in the kidney and promoting its excretion in the urine. Excess production of FGF23 can lead to hypophosphatemic conditions, where there is a deficiency of phosphate in the blood.

Research on the FGF23 gene has provided valuable information on its role in various diseases, including hereditary and tumor-induced hyperphosphatemic conditions. Studies have also identified genetic changes in the FGF23 gene that are associated with familial tumoral calcinosis, a rare condition characterized by the deposition of calcified masses in soft tissues and joints.

Scientists have used databases such as OMIM, PubMed, and others to catalog genetic variants in the FGF23 gene and provide additional information on related conditions and testing resources. The FGF23 gene has been the subject of numerous scientific articles and is an important area of research for understanding the genetics and physiology of phosphate metabolism.

Health Conditions Related to Genetic Changes

Genetic changes in the FGF23 gene have been linked to several health conditions. Here are some of the most notable conditions associated with genetic changes in this gene:

Familial Hypophosphatemic Rickets

Familial hypophosphatemic rickets is a rare hereditary condition characterized by low levels of phosphorus in the blood. Mutations in the FGF23 gene disrupt the normal cleavage of the FGF23 protein, leading to increased levels of the protein and subsequent excessive renal phosphate loss. This condition is also known as autosomal dominant hypophosphatemic rickets.

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• OMIM: This condition is listed in the Online Mendelian Inheritance in Man (OMIM) database under the entry 193100.
• PubMed: Scientific articles related to this condition can be found in the PubMed database by searching for “autosomal dominant hypophosphatemic rickets” or “FGF23 gene” as keywords.
• References: Additional information and references can be found in scientific articles and books on the topic of familial hypophosphatemic rickets.

Familial Tumoral Calcinosis

Familial tumoral calcinosis is a rare genetic disorder characterized by the deposition of calcium phosphate crystals in soft tissues of the body. Mutations in the FGF23 gene can cause an increase in FGF23 protein levels, leading to an excess of calcitriol, a hormone that promotes calcium and phosphate absorption in the intestine and kidneys. Excess calcitriol results in hyperphosphatemia and the formation of tumoral calcinosis.

• OMIM: This condition is listed in the Online Mendelian Inheritance in Man (OMIM) database under the entry 211900.
• PubMed: Scientific articles related to this condition can be found in the PubMed database by searching for “familial tumoral calcinosis” or “FGF23 gene” as keywords.
• References: Additional information and references can be found in scientific articles and books on the topic of familial tumoral calcinosis.

Hyperphosphatemic Familial Tumoral Calcinosis

Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by the formation of tumoral calcinosis and elevated levels of phosphate in the blood. Mutations in the FGF23 gene impair the normal function of the FGF23 protein, leading to decreased production and secretion of this protein. This results in an inability to properly regulate phosphate levels, leading to hyperphosphatemia and the formation of tumoral calcinosis.

• OMIM: This condition is listed in the Online Mendelian Inheritance in Man (OMIM) database under the entry 612286.
• PubMed: Scientific articles related to this condition can be found in the PubMed database by searching for “hyperphosphatemic familial tumoral calcinosis” or “FGF23 gene” as keywords.
• References: Additional information and references can be found in scientific articles and books on the topic of hyperphosphatemic tumoral calcinosis.

For more information on these and other related health conditions, citations, scientific articles, and additional resources, it is recommended to consult relevant databases and registries such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD).

Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets is a rare genetic disorder characterized by low levels of phosphate in the body leading to skeletal abnormalities and other symptoms related to vitamin D metabolism. The condition is typically inherited in an autosomal dominant or autosomal recessive manner.

Hypophosphatemic rickets can be caused by mutations in various genes, including the FGF23 gene. FGF23 plays a critical role in regulating phosphate metabolism through the inhibition of renal tubular phosphate reabsorption and the suppression of Vitamin D production. Mutations in the FGF23 gene can result in excessive FGF23 activity, leading to phosphate wasting and low phosphate levels in the blood.

Patients with hereditary hypophosphatemic rickets often present with short stature, bowing of the legs, dental abnormalities, delayed tooth eruption, muscle weakness, and bone pain. Diagnosis is typically confirmed through laboratory tests, including measurement of serum phosphate levels, calcium levels, parathyroid hormone levels, and vitamin D levels. Furthermore, genetic testing can identify specific mutations in the FGF23 gene.

Treatment for hereditary hypophosphatemic rickets typically involves phosphate and vitamin D supplementation to restore normal serum phosphate levels and promote bone development. In severe cases, phosphate-sparing medications, such as calcitriol and phosphate binders, may also be prescribed.

For additional information, scientific articles and resources related to hereditary hypophosphatemic rickets, one can refer to databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide access to a wide range of references and articles on this condition, including information on related genes, treatments, and clinical manifestations.

Hyperphosphatemic familial tumoral calcinosis

Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder characterized by excess calcium deposits in tissues throughout the body. This condition is caused by mutations in the FGF23 gene, which plays a role in regulating phosphate levels in the body.

Hyperphosphatemic familial tumoral calcinosis is inherited in an autosomal recessive manner, meaning that an affected individual inherits two copies of the mutated gene – one from each parent. The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which helps regulate the balance of phosphate in the body.

Symptoms of hyperphosphatemic familial tumoral calcinosis typically manifest in childhood or adolescence and can include the formation of painful and disfiguring masses of calcium in soft tissues throughout the body. These masses can lead to restricted movement and can interfere with the normal function of affected organs.

Diagnosis of hyperphosphatemic familial tumoral calcinosis is often based on clinical examination and imaging tests. Additional testing, such as genetic testing or laboratory tests to measure phosphate and calcium levels in the blood, may also be performed to confirm the diagnosis.

There is currently no cure for hyperphosphatemic familial tumoral calcinosis, and treatment focuses on managing symptoms and preventing further calcium deposits. This may involve dietary changes to limit phosphate intake, medications to lower phosphate levels in the blood, or surgical removal of calcified masses.

Resources for further information on hyperphosphatemic familial tumoral calcinosis can be found through various databases and scientific articles. OMIM (Online Mendelian Inheritance in Man) provides a catalog of genetic diseases, including hyperphosphatemic familial tumoral calcinosis, and offers further information on the condition. PubMed is a database of scientific articles that may provide additional research and clinical information on this topic.

Kidney stones

Kidney stones, also known as renal calculi, are hard deposits that form in the kidneys. They can vary in size and shape, and can be made up of different substances such as calcium, uric acid, or struvite. The formation of kidney stones is a complex process influenced by various factors including diet, genetics, and certain medical conditions.

The FGF23 gene, discovered in 2000 by Fukumoto, is involved in the regulation of phosphate metabolism. FGF23 is predominantly produced in bone and acts on the kidney to decrease phosphate reabsorption, promoting phosphate excretion in the urine. Mutations in the FGF23 gene can lead to inherited disorders such as autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets.

In relation to kidney stones, FGF23 plays a role in preventing the excessive accumulation of phosphate in the body. High levels of phosphate in the blood can lead to conditions such as calcinosis, which is the abnormal deposition of calcium in tissues, including the kidneys. By promoting phosphate excretion, FGF23 helps maintain normal phosphate levels in the body and prevents the formation of kidney stones.

There are several resources available for genetic testing and information on the FGF23 gene and related conditions. The OMIM database provides detailed information on the FGF23 gene, including the variant names, genetic changes, and associated diseases. Additionally, scientific articles and references in PubMed can provide further information on the role of FGF23 in kidney stones and other diseases.

In conclusion, the FGF23 gene plays a crucial role in the regulation of phosphate metabolism and is involved in various genetic conditions related to hyperphosphatemia. Understanding the functions and variants of the FGF23 gene can provide important insights into the development and treatment of kidney stones and other related diseases.

Other Names for This Gene

The FGF23 gene is also known by other names:

• FHBG2
• PHEX-related protein
• ADHR
• X-linked hypophosphatemic rickets
• HPDR2
• HHRH
• FHR2
• Hyperphosphatemic tumoral calcinosis 2
• Phosphatonin
• iRGD

This gene is related to other genes and provides important information for these genes as well. Additional articles and scientific references on the FGF23 gene can be found in various databases and resources. Some of these resources include OMIM, PubMed, and the Genetic Testing Registry. These databases have information on the role of FGF23 in various diseases, including familial tumoral calcinosis and hyperphosphatemic familial tumoral calcinosis. Testing for genetic changes in this gene can be useful for diagnosing and leading to the treatment of rare genetic disorders like hyperphosphatemic tumoral calcinosis and hypophosphatemic rickets.

FGF23 plays a vital role in regulating the level of calcium and phosphate in the body. It is the main hormone responsible for regulating phosphate excretion by the kidneys and inhibiting the production of active vitamin D. Dysregulation of FGF23 can lead to diseases like autosomal dominant hypophosphatemic rickets and X-linked hypophosphatemia. Mutations in the FGF23 gene can lead to excess production of FGF23 and cause hypophosphatemic or hyperphosphatemic conditions.

Overall, the FGF23 gene and its variants have significant implications for human health and should be studied further to understand its role in various diseases.

Additional Information Resources

Here is a list of additional resources for further information on the FGF23 gene:

• OMIM: Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic disorders. It provides a detailed overview of the FGF23 gene and its role in various diseases including hypophosphatemic rickets and autosomal dominant hypophosphatemic rickets.
• PubMed: A database of scientific articles in the field of medicine and related disciplines. Searching for “FGF23 gene” on PubMed will give you access to a wide range of research papers and studies on this gene.
• Genetic Testing Registry: A resource that provides information about genetic tests and their availability. It can help you find laboratories offering testing for FGF23 gene mutations and related conditions.
• GENE: Genetic Association Database, which is a compilation of genetic association studies. It includes information on associations between FGF23 gene variants and various diseases.
• Calcitriol: A hormone that regulates calcium and phosphorus metabolism in the body. Changes in the FGF23 gene can lead to excess production of FGF23, which in turn affects calcitriol levels and leads to conditions such as hyperphosphatemia.
• Fibroblast Growth Factor: A family of signaling molecules that play a role in various biological processes. The FGF23 gene encodes a member of this family, which is primarily expressed in tissues such as kidney and bones.
• Physiological Changes: The FGF23 gene and its encoded protein have been extensively studied for their physiological effects on phosphate homeostasis and bone mineralization.
• Tumoral Calcinosis: A rare autosomal recessive disorder characterized by abnormal calcium and phosphate metabolism resulting in the formation of calcified masses in soft tissues. Mutations in the FGF23 gene have been identified as the cause of this condition.

These resources can provide you with additional health and scientific information on the FGF23 gene and related conditions. Additionally, searching for specific terms such as “FGF23 gene testing” or “FGF23 gene mutations” can lead you to more specific articles and studies.

Tests Listed in the Genetic Testing Registry

The FGF23 gene plays a critical role in regulating phosphate metabolism and is associated with several rare genetic diseases characterized by abnormal phosphate levels and calcinosis. Genetic testing can identify changes in the FGF23 gene that can contribute to the development of these conditions.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for a variety of conditions. The following tests are listed in the GTR that are related to the FGF23 gene:

• Autosomal dominant hypophosphatemic rickets: This test detects genetic variants in the FGF23 gene that lead to excessive levels of fibroblast growth factor 23 (FGF23) causing low phosphate levels, leading to rickets.
• Autosomal recessive hypophosphatemic rickets: This test identifies genetic variants in the FGF23 gene that result in low phosphate levels, leading to rickets. It is inherited in an autosomal recessive manner.
• Familial tumoral calcinosis: This test detects genetic changes in the FGF23 gene that cause abnormal calcification of soft tissues in the body, leading to the formation of calcinosis cutis.
• Familial hyperphosphatemic tumoral calcinosis: This test identifies genetic variants in the FGF23 gene that result in excessive phosphate levels and abnormal calcification of soft tissues, leading to the formation of tumoral calcinosis.
• Fibroblast Growth Factor 23 (FGF23) Excess: Testing for Familial FGF23 Excess: This test detects genetic changes in the FGF23 gene that lead to excessive production of FGF23, resulting in elevated phosphate levels and hyperphosphatemia.

These tests can provide essential information about the genetic variants in the FGF23 gene that may cause or contribute to these rare genetic diseases. The GTR also provides additional resources and references, including scientific articles, OMIM entries, and PubMed citations, for further reading and information.

It is important to consult with a healthcare professional or genetic counselor before undergoing genetic testing to understand the implications and limitations of the test results and to determine the best course of action for managing these genetic conditions.

Scientific Articles on PubMed

PubMed is one of the most valuable resources for scientific articles related to the FGF23 gene. With its vast database, PubMed catalogs thousands of articles that explore the role of this gene in various health conditions.

Autosomal testing is one of the leading methods used to identify changes in the FGF23 gene. This testing is especially useful for rare conditions such as hereditary hypophosphatemic rickets and tumoral calcinosis. PubMed provides additional resources for researchers and clinicians looking for scientific articles on this particular gene variant.

One such study by Farrow et al. explored other genes and physiological changes associated with hyperphosphatemia. The researchers found that the FGF23 gene plays a crucial role in regulating excess levels of vitamin D and calcium in the body.

PubMed is a valuable resource for scientists and clinicians looking for articles on FGF23 and its related diseases. It provides a wealth of information on hyperphosphatemic familial tumoral calcinosis and hereditary hypophosphatemic rickets, as well as other conditions listed in the OMIM database.

In a study by Fukumoto et al., the authors investigated the cleavage of the FGF23 gene and its effect on phosphate metabolism. The results shed light on the pathophysiology of hypophosphatemic diseases and provided valuable insights into potential therapeutic approaches.

For those interested in studying the FGF23 gene, PubMed offers a comprehensive collection of scientific articles. These papers cover a wide range of topics, including the role of FGF23 in kidney stones and the genetic basis of familial hyperphosphatemic tumoral calcinosis. Researchers can find references to related studies and access resources from the PubMed database.

In conclusion, PubMed is an invaluable tool for researchers and clinicians studying the FGF23 gene. Its extensive catalog of scientific articles provides a wealth of information on the role of FGF23 in various health conditions and offers opportunities for further research and exploration.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a leading catalog of genetic disorders and the genes associated with them. It provides a comprehensive resource for researchers, healthcare professionals, and individuals interested in genetic conditions.

The catalog includes a wide range of genetic diseases, including rare and common conditions. Each entry in the catalog contains information on the gene associated with the disease, relevant references, and resources for further information.

One of the genes listed in the OMIM catalog is the FGF23 gene. Mutations in this gene can lead to hyperphosphatemic familial tumoral calcinosis, a rare genetic disorder characterized by excess phosphate levels in the blood and the formation of calcified masses in soft tissues.

Testing for genetic changes in the FGF23 gene can be done to diagnose hyperphosphatemic familial tumoral calcinosis and other related conditions. Genetic testing can also help identify individuals who may be at risk of developing these conditions.

In addition to the FGF23 gene, the OMIM catalog includes information on thousands of other genes and their associated diseases. The catalog provides links to scientific articles, PubMed citations, and other databases for further information on each gene-disease association.

The OMIM catalog is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases. It offers a comprehensive and up-to-date collection of information on genes and their associated diseases, providing insights into the role of genetics in health and disease.

Gene and Variant Databases

Gene and variant databases are a crucial resource for researchers and clinicians studying the FGF23 gene and its related conditions. These databases provide a catalog of gene variations, along with information about the role of these genes in various diseases and conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive list of genes and their associated disorders. OMIM lists the FGF23 gene as a gene associated with autosomal dominant hypophosphatemic rickets (ADHR), a rare genetic disorder characterized by an excess of phosphate in the body. The FGF23 gene is also associated with familial tumoral calcinosis, a condition that leads to the formation of calcium phosphate stones in the kidneys.

Another important resource is the Genetic Testing Registry (GTR), which provides information about genetic tests available for the FGF23 gene and related conditions. GTR lists the tests available for hereditary hypophosphatemic rickets with hyperphosphatemia (HHRH) and autosomal dominant hypophosphatemic rickets (ADHR), both of which are caused by mutations in the FGF23 gene. These tests can help diagnose and confirm the presence of these genetic disorders.

In addition to these databases, scientific articles and references can also provide valuable information about the FGF23 gene and its variants. PubMed is an online database that provides access to a wide range of scientific articles on various diseases and genetic changes. By searching for the FGF23 gene or related keywords, researchers and clinicians can find articles and references that provide further insights into the genetic changes and physiological role of the FGF23 gene in the body.

Overall, gene and variant databases, along with other scientific resources, play a crucial role in understanding the FGF23 gene and its related conditions. These databases and resources provide a comprehensive catalog of gene variations, along with information about the role of these genes in various diseases and conditions. They also provide testing information for clinicians and researchers, allowing for accurate diagnosis and treatment of these rare genetic disorders.

References

1. Fukumoto S. Gene Reviews for Familial Hypophosphatemic Rickets, Autoomal Dominant.
2. Fibroblast Growth Factor 23 (FGF23) Gene. OMIM entry.
3. Kuro-o M, Klotho and FGF23 in kidney disease: Progress and road map. Kidney Int Suppl. 2011;1(3):S73-S76.
4. AL Muller, Hurley ME, Reynolds JL. Familial FGF23-related hypophosphatemic rickets/osteomalacia. J Bone Miner Res. 2015;30(2):242-246.
5. Fibroblast Growth Factor 23 Gene. Genetics Home Reference.
6. Fukumoto S. FGF23-FGF Receptor Complex: New Insights into Structural Basis and Functional Consequences in Renal Phosphate Regulation. Endocr Pract. 2014;20(7):702-708.
7. Fukumoto S. (2017). FGF23. In EC Wong (Ed.), Encyclopedia of Signaling Molecules. New York: Springer.
8. Fibroblast Growth Factor 23 (FGF23). GeneCards entry.
9. Fibroblast Growth Factor 23 (FGF23). Online Mendelian Inheritance in Man (OMIM) entry.
10. Rampoldi L, et al. Allelic heterogeneity in autosomal dominant hyperphosphatemic rickets. Proc Natl Acad Sci U S A. 2001;98(22):15350-15354.
11. Fibroblast growth factor 23. European Bioinformatics Institute (EBI) Gene Expression Atlas.
12. Rickels MR, et al. Fibroblast growth factor-23 is induced by an activated renin-angiotensin-aldosterone system in humans: a pilot study. J Clin Endocrinol Metab. 2012;97(2):E204-E207.