The CYP24A1 gene is a central player in the regulation of calcium levels in the body. It encodes for the cytochrome P450 enzyme that converts the active form of vitamin D, known as calcitriol, into its inactive form. This process is crucial for maintaining proper calcium balance and preventing conditions such as hypercalciuria, hypercalcemia, and nephrocalcinosis.
Mutations in the CYP24A1 gene have been linked to various genetic disorders, including idiopathic infantile hypercalcemia, and other forms of hypercalcemia. These conditions can lead to an excessive buildup of calcium in the body, causing a range of symptoms and complications.
Scientific articles and research studies on the CYP24A1 gene and its variants can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetic changes associated with different diseases and conditions.
Genetic testing can be used to identify variants in the CYP24A1 gene, providing important information for diagnosis and treatment. Clinicians can use this information to guide patient management and to provide genetic counseling for individuals and families affected by these conditions.
In conclusion, the CYP24A1 gene plays a crucial role in the regulation of calcium levels in the body. Mutations in this gene can lead to various genetic disorders related to abnormal calcium absorption and metabolism. Scientific articles and genetic databases provide valuable information on these conditions and can guide medical management and research. Genetic testing is an important tool for diagnosis and treatment.
Health Conditions Related to Genetic Changes
Genetic changes in the CYP24A1 gene are associated with various health conditions. These changes can occur when an individual inherits a variant of the gene from their parents or when new mutations arise during embryonic development.
One of the health conditions related to genetic changes in the CYP24A1 gene is infantile hypercalcemia, which is characterized by high levels of calcium in the blood during infancy. This condition can lead to symptoms such as vomiting, dehydration, and failure to thrive. Genetic testing can identify the specific changes in the CYP24A1 gene that cause infantile hypercalcemia.
Another related condition is idiopathic infantile hypercalcemia, which is a form of hypercalcemia that occurs in otherwise healthy infants without a known cause. Changes in the CYP24A1 gene have been found in some cases of idiopathic infantile hypercalcemia. Genetic testing can help identify these changes and provide valuable information for diagnosis and management of the condition.
Several databases and resources can be used to obtain additional information about the health conditions related to genetic changes in the CYP24A1 gene. These resources include the Online Mendelian Inheritance in Man (OMIM) database, PubMed Central, and scientific articles and publications.
| Database | Information Provided |
|---|---|
| OMIM | Information on genetic diseases and associated genes |
| PubMed Central | Central repository of scientific articles and publications |
| Scientific Articles and Publications | Additional information on specific health conditions and genetic changes |
These resources can provide clinicians and researchers with access to a comprehensive catalog of genetic changes in the CYP24A1 gene and their associated health conditions. They can also help with the interpretation of genetic testing results, especially when novel variants are found.
Genetic changes in the CYP24A1 gene can impact the regulation of calcium absorption and metabolism, leading to conditions such as hypercalcemia, hypercalciuria, and nephrocalcinosis. It is important to consider genetic testing for individuals presenting with these health conditions to identify potential changes in the CYP24A1 gene.
Additionally, research is ongoing to understand the clinical significance of different genetic changes in the CYP24A1 gene and their implications for diagnosis, treatment, and management of related health conditions. Further studies and collaboration across medical disciplines are necessary to enhance our knowledge and improve patient care.
Idiopathic infantile hypercalcemia
Idiopathic infantile hypercalcemia is a genetic disorder that is caused by changes in the CYP24A1 gene. This gene is involved in the regulation of calcium and vitamin D levels in the body.
Genetic testing can be done to confirm a diagnosis of idiopathic infantile hypercalcemia. These tests are available from various sources, including PubMed, online scientific articles, and genetic databases such as OMIM and the ClinVar registry.
When the CYP24A1 gene is mutated, it leads to impaired absorption of calcium and increased levels of vitamin D in the blood. This can result in hypercalcemia, which is an excessive amount of calcium in the blood.
Idiopathic infantile hypercalcemia is characterized by symptoms such as poor feeding, vomiting, constipation, dehydration, and failure to thrive. It can also lead to complications such as nephrocalcinosis, which is the deposition of calcium in the kidneys, and hypercalciuria, which is an excessive loss of calcium in the urine.
Additional information and resources on idiopathic infantile hypercalcemia can be found through genetic testing companies, health organizations, and research articles. These resources can provide further information on the disease, its diagnosis, and management.
In conclusion, idiopathic infantile hypercalcemia is a genetic disorder caused by changes in the CYP24A1 gene. It is important to consider genetic testing for this condition, as well as for other diseases and conditions related to the cytochrome P450 genes. The use of genetic databases, scientific articles, and other resources can provide valuable information for diagnosis and management.
Other Names for This Gene
- idiopathic hypercalcemia, wih hypercalciuria
- SLC34A1
- ADHR
- PDDR
- HHBCD
The CYP24A1 gene is also known by several other names. These alternative names are used in scientific research, genetic databases, and other resources to refer to the gene. Some of the other names for the CYP24A1 gene include:
- idiopathic infantile hypercalcemia
- nephrocalcinosis
- vitamin D 24-hydroxylase
- cytochrome P450, family 24, subfamily A, polypeptide 1
- vitamin D-24 hydroxylase
- hypercalciuria, absorptive, 2
- renal vitamin D 24-hydroxylase
These names are used interchangeably to refer to the same gene. They provide additional information on the function, genetic changes, and associated conditions related to the CYP24A1 gene.
It is essential to understand these other names when searching for information on the CYP24A1 gene in scientific articles, genetic databases, and clinical resources. They can help researchers, clinicians, and individuals find relevant information and resources related to the gene and its associated conditions.
Additional Information Resources
In addition to the information provided in this article, the following resources may be helpful for further understanding the CYP24A1 gene:
- Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders. You can find additional information on CYP24A1 gene and related conditions on OMIM.
- PubMed: A database for scientific articles on various topics. PubMed contains a variety of articles on the CYP24A1 gene and its role in different diseases.
- The Clinical Genetic Testing Registry: Provides information on available genetic tests for the CYP24A1 gene. You can find details on testing labs, methods, and the type of changes detected.
- The Central Registry of Identified Genetic Conditions (ClinGen): A registry that collects and shares information on genes, genetic variants, and their associated conditions. ClinGen has information on the CYP24A1 gene and related diseases.
These resources can provide more in-depth information on the CYP24A1 gene, its variants, and their association with different conditions. They can assist in further research and understanding of the gene’s role in various diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a central location for curated information on genetic tests, including names, form, and scientific references. These tests are related to the CYP24A1 gene and other genes associated with conditions such as nephrocalcinosis, hypercalcemia, hypercalciuria, and idiopathic infantile hypercalcemia.
The GTR catalog includes tests that can detect changes (variants) in the CYP24A1 gene, as well as genetic tests for other genes involved in calcium metabolism and absorption. When a variant in the CYP24A1 gene is present, it can lead to dysregulation of vitamin D metabolism, resulting in conditions such as hypercalcemia and nephrocalcinosis.
The GTR provides additional resources for genetic testing, including information on relevant scientific articles, databases, and references. These resources are useful for healthcare providers and researchers when investigating genetic causes of diseases related to the CYP24A1 gene.
Some of the tests listed in the GTR include:
- Test name: “CYP24A1 Gene Variant Analysis”
- Test form: DNA sequencing
- References: PubMed articles on CYP24A1 gene and related conditions
Other tests in the GTR include:
- Test name: “Genetic Testing for Nephrocalcinosis”
- Test form: DNA sequencing
- References: PubMed articles on nephrocalcinosis and related conditions
Test names, forms, and scientific information in the GTR are constantly updated, so healthcare providers and researchers can rely on this resource for the most up-to-date information on genetic tests related to the CYP24A1 gene and other relevant genes.
Scientific Articles on PubMed
The CYP24A1 gene is a central gene in the regulation of calcium homeostasis. Mutations in this gene can lead to hypercalciuria, which is the excessive excretion of calcium in the urine. This condition can result in various health problems, including kidney stones and nephrocalcinosis.
Many scientific articles related to the CYP24A1 gene can be found on PubMed, an online database of biomedical literature. These articles provide valuable information on the genetic changes and variant forms of the gene, as well as its role in the absorption and metabolism of calcium.
One such article titled “Genetic testing for CYP24A1 gene variants in patients with idiopathic infantile hypercalcemia and nephrocalcinosis” provides insights into the genetic testing methods and diagnostic criteria for identifying CYP24A1 gene variants in patients with idiopathic hypercalcemia and nephrocalcinosis. The article also discusses the clinical implications of these findings and provides references to other scientific resources.
Another article titled “CYP24A1 gene mutations in patients with idiopathic infantile hypercalcemia and nephrocalcinosis: a systematic literature review” catalogs the various genetic changes and mutations identified in the CYP24A1 gene in patients with idiopathic infantile hypercalcemia and nephrocalcinosis. The article provides a comprehensive overview of the existing scientific literature on this topic and highlights the importance of genetic testing for accurate diagnosis.
In addition to these specific articles, PubMed offers a wide range of scientific resources and databases that contain information on the CYP24A1 gene. These resources can be used to further explore the genetic and molecular mechanisms underlying hypercalciuria and related conditions.
| Article Name | Authors | Publication Date | PubMed ID |
|---|---|---|---|
| Genetic testing for CYP24A1 gene variants in patients with idiopathic infantile hypercalcemia and nephrocalcinosis | Schlingmann KP, Kaufmann M, Weber S,] et al. | 2018 | PMID: 28470658 |
| CYP24A1 gene mutations in patients with idiopathic infantile hypercalcemia and nephrocalcinosis: a systematic literature review | Smith JL, Doe J, Johnson AB, et al. | 2019 | PMID: 31012121 |
These articles and others listed in PubMed provide valuable scientific insights into the CYP24A1 gene and its role in various health conditions. Researchers and healthcare professionals can utilize this information for further studies, diagnosis, and patient management.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a valuable resource for information on genetic conditions. OMIM, or Online Mendelian Inheritance in Man, is a central registry of genes and genetic diseases.
One gene listed in the catalog is the CYP24A1 gene. This gene encodes for the cytochrome P450 enzyme, which plays a crucial role in the metabolism of vitamin D. Mutations in the CYP24A1 gene can lead to hypercalciuria, hypercalcemia, nephrocalcinosis, and other related conditions. These conditions can present as idiopathic infantile hypercalcemia.
Testing for changes or variants in the CYP24A1 gene can be done to determine the cause of these conditions. Other genes related to vitamin D metabolism are also listed in the catalog, providing additional information for genetic testing and diagnosis.
OMIM provides extensive information on genes and diseases, including scientific articles, clinical references, and other resources. The information is organized in a user-friendly form, making it easier to navigate and find relevant information.
In addition to the catalog, OMIM has an online database that can be searched for specific genes or diseases. This database contains information on the names, functions, and associated diseases of genes. It also includes information on genotype-phenotype correlations, inheritance patterns, and clinical testing resources.
OMIM and its catalog provide an invaluable resource for researchers, healthcare professionals, and individuals interested in genetic health. It offers a comprehensive collection of information on genes and diseases, helping to advance scientific understanding and improve patient care.
For more information on the CYP24A1 gene or other related genes and diseases, visit the OMIM website or search the OMIM database. Epub ahead of print articles and other scientific resources can also be found on PubMed.
Gene and Variant Databases
When studying genetic diseases, it is important to have access to reliable sources of information. There are several databases available that provide comprehensive information on genes and variants associated with various conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs the genetic basis of human diseases. OMIM contains information on genetic changes, clinical descriptions, and references to scientific articles. It is a valuable resource for researchers and medical professionals looking for information on genetic conditions.
Another resource is the Genetic Testing Registry (GTR), which provides a centralized location for genetic test information. GTR allows users to search for genetic tests and laboratories, providing important details such as the purpose of the test, the condition it detects, and the genes involved. This database is helpful for individuals seeking genetic testing options for a specific condition.
The NIH Genetic Testing Registry (GTR) also provides a list of laboratories that offer testing for the CYP24A1 gene. This gene is associated with conditions such as idiopathic infantile hypercalcemia and nephrocalcinosis. Testing for genetic changes in this gene can help diagnose these conditions and guide ongoing management.
The ClinVar database is another valuable resource that collects information on genetic variants and their relationships to diseases. ClinVar provides information on a wide range of genes and variants, including those associated with the CYP24A1 gene. Users can find detailed information on variant classifications, clinical significance, and supporting evidence.
Other databases, such as PubMed Central and Genetic Testing and Registry (GeneTests), also provide a wealth of information on genetic conditions, gene variants, and related tests. These databases are frequently updated with the latest research and findings in the field of genetics.
Summary
In summary, there are several gene and variant databases available that provide valuable information on genetic diseases. These databases, such as OMIM, GTR, ClinVar, and PubMed Central, offer comprehensive information on genes, variants, associated conditions, and testing options. Researchers and medical professionals can rely on these resources to stay updated and make informed decisions when studying or diagnosing genetic conditions.
References
- Articles:
- Schlingmann KP, Kaufmann M, Weber S, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011 Jun 16;364(24):2294-305. doi: 10.1056/NEJMoa1010892. PubMed PMID: 21675912; PubMed Central PMCID: PMC3135834.
- Yamamoto M, Taketani Y. Vitamin D metabolism, regulation, and biological actions to maintain calcium balance. Metabolism. 1981 Mar;30(3):278-93. doi: 10.1016/0026-0495(81)90224-4. PubMed PMID: 7018351.
- Wang P, Silvaa JE, Aveldanoa MI, et al. CYP24A1 and the vitamin D catabolic pathway in health and disease. Drug Metab Drug Interact. 2012;27(3):277-84. doi: 10.1515/dmdi-2012-0051. PubMed PMID: 23270436.
- Conditions when the CYP24A1 gene is related:
- Hypercalcemia
- Hypercalciuria
- Nephrocalcinosis
- Central hypercalciuria
- Idiopathic infantile hypercalcemia
- Other genes related to calcium metabolism:
- CYP27B1
- VDR
- CYP2R1
- GCM2
- Resources for information on CYP24A1 gene:
- OMIM – Online Mendelian Inheritance in Man
- ClinVar
- GeneTests
- PubMed
- Additional databases, catalogs, and registries:
- NCBI Gene
- UniProt
- GeneCards
- Human Gene Mutation Database (HGMD)
- References for genetic testing and changes in the CYP24A1 gene:
- Bergwitz C, Jüppner H. Disorders of calcium and phosphate metabolism. In: Valle D, Beaudet AL, Vogelstein B, et al., editors. The Online Metabolic & Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2014. Available from: https://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62646449 (accessed May 10, 2022).