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The CYP27B1 gene, also known as the cytochrome P450 family 27 subfamily B member 1 gene, is responsible for the production of an enzyme that plays a crucial role in the metabolism of vitamin D. This gene is listed in various genetic databases and has several variant forms that have been associated with different diseases and conditions.

One of the main functions of the CYP27B1 gene is to convert inactive forms of vitamin D into its active form, which is essential for maintaining healthy bones and overall health. Mutations in this gene can lead to various disorders, including vitamin D-dependent rickets type 1 and other autoimmune diseases.

Testing for CYP27B1 gene variants can provide additional information about the risk of developing certain diseases and conditions. For example, mutations in this gene have been linked to Addison’s disease, multiple sclerosis, and weak bones (rickets).

Scientific articles and references related to the CYP27B1 gene can be found in resources such as PubMed, OMIM, and other scientific databases. Additionally, there are registries and catalogs that provide information on genetic testing and other relevant health information for individuals with mutations in this gene.

In conclusion, the CYP27B1 gene is an important gene involved in the metabolism of vitamin D and is associated with various diseases and conditions. Further research and testing can provide additional insights into the role of this gene in health and disease.

Genetic changes in the CYP27B1 gene can have significant implications for health and well-being. The CYP27B1 gene is responsible for encoding an enzyme called cytochrome P450 family 27 subfamily B member 1, which is involved in the activation of vitamin D. Therefore, genetic variations in this gene can lead to vitamin D-dependent rickets type 1B, a rare genetic disorder characterized by weak bones and skeletal abnormalities.

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Individuals with genetic changes in the CYP27B1 gene may have impaired ability to convert vitamin D into its active form, resulting in decreased calcium absorption and the development of rickets. In addition to rickets, other health conditions related to genetic changes in this gene include multiple sclerosis and Addison disease.

For individuals suspected to have genetic changes in the CYP27B1 gene, various medical tests and genetic testing can be performed to confirm the diagnosis. Clinicians can use resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive and up-to-date information on genetic disorders, to gather additional information on these health conditions.

Scientific articles and references from PubMed can also provide valuable insights into the genetic changes and their implications on health. The OMIM database and PubMed can help clinicians determine the best course of action for diagnosis, treatment, and management of these genetic conditions.

In addition to these databases and resources, there are other online genetic testing and registry catalogs that provide information on genetic variants, gene names, and diseases associated with the CYP27B1 gene. These resources can be invaluable in guiding clinicians and researchers in their study of genetic changes and their impact on health.

Overall, genetic changes in the CYP27B1 gene can have significant implications for health. It is important for clinicians and researchers to stay updated on the latest scientific findings and resources to effectively diagnose, manage, and treat individuals with genetic changes in this gene and the associated health conditions.

Vitamin D-dependent rickets

Vitamin D-dependent rickets is a condition caused by a mutation in the CYP27B1 gene. This gene encodes an enzyme called cytochrome P450 27B1, which is responsible for converting vitamin D into its active form. Without this enzyme, the body cannot properly absorb and utilize vitamin D, leading to a deficiency and resulting in rickets.

Rickets is a disorder that affects bone development in children. It is characterized by weak, soft, and malformed bones, which can lead to skeletal deformities and growth delays. Vitamin D-dependent rickets is a rare form of the disease and is usually inherited in an autosomal recessive manner.

Testing for vitamin D-dependent rickets involves genetic testing to identify mutations in the CYP27B1 gene. This testing can confirm a diagnosis and help determine the appropriate treatment and management strategies.

There are other conditions related to vitamin D-dependent rickets, including other genetic mutations that affect the metabolism of vitamin D, as well as multiple autoimmune diseases. These conditions may have similar symptoms and can sometimes be difficult to differentiate from each other.

Additional information on vitamin D-dependent rickets can be found in scientific articles and resources such as PubMed, OMIM, and the CYP27B1 gene catalog. These databases provide information on the genetic variant, clinical features, and other related diseases.

See also  SUCLA2 gene

The registry of recognized genetic conditions associated with vitamin D-dependent rickets includes names such as vitamin D-dependent rickets type 1A and vitamin D-dependent rickets type 1B, which are caused by mutations in the CYP27B1 gene.

References:

  1. “Genetic and clinical characteristics of patients with vitamin D-dependent rickets type 1A.”
  2. “Vitamin D-dependent rickets type 1B: an unusual and challenging diagnosis in children with early onset rickets.”
  3. “CYP27B1 gene mutations: clinical manifestations of vitamin D-dependent rickets type 1B.”

For more information on vitamin D-dependent rickets and related diseases, consult these references and the available health resources.

Autoimmune Addison disease

Autoimmune Addison disease is a scientific term referring to a type of Addison’s disease that is caused by an autoimmune response. Addison’s disease is a rare but serious condition characterized by the weak or absent function of the adrenal glands, which are responsible for producing essential hormones.

One of the genetic variants associated with autoimmune Addison disease is the CYP27B1 gene. This gene is listed in the scientific catalog of genetic tests and other genetic resources. It is related to the vitamin D-dependent rickets type 1A, a condition characterized by weakened bones and skeletal abnormalities.

Patients with autoimmune Addison disease may require genetic testing to identify changes or variants in the CYP27B1 gene. This genetic testing can help to confirm the diagnosis and provide additional information for the management of the disease. Genetic testing for autoimmune Addison disease may also be beneficial for other conditions that are related to changes in this gene.

Resources such as OMIM and PubMed contain articles and references on genetic diseases and autoimmune conditions, including autoimmune Addison disease. The National Institutes of Health (NIH) also maintains a registry of genetic tests available for various conditions, including those related to the CYP27B1 gene.

Autoimmune Addison disease is often associated with other autoimmune diseases, such as multiple sclerosis. It is important to consult with a clinician or genetic counselor for comprehensive testing and management of these conditions.

In summary, autoimmune Addison disease is a rare condition caused by an autoimmune response. The CYP27B1 gene is one of the genetic variants associated with this disease. Genetic testing and resources such as databases, articles, and references can provide valuable information for diagnosis, management, and treatment of autoimmune Addison disease and related conditions.

Multiple sclerosis

Multiple sclerosis (MS) is an autoimmune disease that affects the central nervous system. It causes damage to the myelin sheath, the protective covering of nerve fibers, resulting in communication problems between the brain and the rest of the body.

MS is a complex disease with a variety of symptoms and manifestations. It is thought to be caused by a combination of genetic and environmental factors. One gene that has been extensively studied in relation to MS is the CYP27B1 gene. This gene is responsible for producing an enzyme called cytochrome P450 27B1, which plays a role in the conversion of vitamin D into its active form.

Research has shown that changes in the CYP27B1 gene may be associated with an increased risk of developing MS. These changes can affect the production or function of the cytochrome P450 27B1 enzyme, leading to lower levels of active vitamin D in the body. Vitamin D is known to have immune-modulating properties, and it is thought that low levels of vitamin D may contribute to the development of autoimmune diseases like MS.

Genetic testing for changes in the CYP27B1 gene can be done to determine an individual’s risk of developing MS. This type of testing looks for specific variations, or mutations, in the gene that are associated with the disease. Results from genetic testing can provide valuable information for individuals who have a family history of MS or who have been diagnosed with other autoimmune conditions.

Additional resources and information on genetic testing and MS can be found through various databases and registries. The National Institutes of Health provides a catalog of genetic tests (ClinVar) and a registry of genetic diseases (OMIM), which includes information on the CYP27B1 gene and related conditions. The PubMed database is also a valuable resource for scientific articles and references on the topic.

In conclusion, the CYP27B1 gene plays a role in vitamin D metabolism and has been implicated in the development of multiple sclerosis. Changes in this gene can affect the production of active vitamin D and may contribute to the risk of developing the disease. Genetic testing and additional resources can provide valuable information for individuals and researchers studying MS and related conditions.

Other Names for This Gene

  • 25(OH)D-1-alpha-hydroxylase
  • 25-hydroxyvitamin D 1-alpha hydroxylase
  • 1-alpha-OHase
  • 1-alpha-hydroxylase
  • 1-alpha-hydroxyvitamin D3 1-alpha-hydroxylase
    • CYP1
    • P450c1alpha
  • 25-hydroxyvitamin D(3) 1-alpha-hydroxylase
  • 1 alpha,25-dihydroxyvitamin D3 1-alpha-hydroxylase
  • 1-alpha,25-Dihydroxyvitamin D Synthase
  • 1 alpha-hydroxylase
  • 1 alpha(V) D-hydroxylase

For more information on this gene, please visit the

Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of human genes and genetic disorders.

Additional information about the CYP27B1 gene can be found in the Genetics Home Reference, which provides consumer-friendly information about genetic conditions and the genes or chromosomal changes associated with those conditions.

See also  Familial restrictive cardiomyopathy

For clinical resources on autoimmune diseases, genetic testing, and related conditions, you may visit the Clinical Genome Resource (ClinGen).

For more information on tests and testing laboratories, you can also visit the Genetic Testing Registry (GTR) from the National Center for Biotechnology Information (NCBI).

There are weak genetic changes (variants) in the CYP27B1 gene associated with vitamin D-dependent rickets type 1 (VDDR1). For scientific references on this, you can search the PubMed database.

There is also information available on the related diseases, such as autoimmune polyglandular syndrome type 1 (APS1), Addison’s disease, and multiple sclerosis, in scientific articles and databases.

For other listed gene names and variant information, you can refer to the following resources:

Resource Description
OMIM The Online Mendelian Inheritance in Man (OMIM) catalog
ClinVar A catalog of genetic variants and their relationships to human health
HGNC The HUGO Gene Nomenclature Committee database

Additional Information Resources

  • CYP27B1 gene related articles:
  1. PubMed articles on CYP27B1 gene
  2. OMIM entry for CYP27B1 gene
  3. ClinVar database for CYP27B1 gene

  • Genetic testing:
  1. Genetic testing for autoimmune diseases
  2. Genetic testing resources
  3. CDC’s Genetic Testing and the Family History

  • Related genes and conditions:
  1. PubMed articles on diseases related to CYP27B1 gene
  2. Genetic factors in multiple sclerosis
  3. Information on Addison’s disease

  • Other resources:
  1. OMIM catalog of human genes and genetic disorders
  2. The Human Genome Project FAQs

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists various tests related to the CYP27B1 gene. These tests focus on detecting variants in this gene that are associated with certain genetic conditions. The GTR provides a comprehensive catalog of genetic tests that can be used to identify changes in the CYP27B1 gene.

By testing for variants in the CYP27B1 gene, scientists can gain valuable insights into various health conditions. Some of the diseases and conditions associated with changes in this gene include Addison’s disease, multiple sclerosis, and vitamin D-dependent rickets type 1B.

The GTR references scientific articles, PubMed, and OMIM for additional information on the genetic testing listed. These resources provide a wealth of information on the CYP27B1 gene and its role in different diseases. The GTR also notes if a genetic test is related to any other genes or disease.

In addition to the GTR, there are other genetic databases and resources available for testing related to the CYP27B1 gene. These databases can provide clinicians and researchers with further information on testing for genetic variants in this gene.

For a comprehensive understanding of the CYP27B1 gene and its implications, scientists and medical professionals should consult these databases and resources. This will help them gather information on related genes, diseases, and the overall influence of the CYP27B1 gene on health.

The GTR serves as a valuable tool for researchers and clinicians interested in studying genetic variants and their association with diseases. By listing various tests related to the CYP27B1 gene, the GTR helps streamline the process of genetic testing and facilitates further research into the role this gene plays in human health.

References:

  1. Genetic Testing Registry (GTR). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/1058/

Scientific Articles on PubMed

The CYP27B1 gene, also known as cytochrome P450 family 27 subfamily B member 1, is responsible for the production of an enzyme that converts vitamin D into its active form. Mutations in this gene can lead to vitamin D-dependent rickets type 1A, a genetic condition characterized by weak and brittle bones.

Additional information on the CYP27B1 gene and its variants can be found in OMIM (Online Mendelian Inheritance in Man), a comprehensive database of genetic conditions and their associated genes.

Testing for variants in the CYP27B1 gene is available for individuals suspected of having vitamin D-dependent rickets or related conditions. These tests can help diagnose the disease and guide treatment strategies.

Scientific articles on the CYP27B1 gene and its role in vitamin D-dependent diseases can be found on PubMed, a resource that provides access to a vast collection of biomedical literature. These articles may offer insights into the genetic basis of these conditions and potential treatment approaches.

Other databases and resources, such as the Genetic Testing Registry (GTR) and the National Institutes of Health (NIH) Office of Rare Diseases Research, may also provide valuable information on the CYP27B1 gene and related conditions.

In addition, references to scientific articles on the CYP27B1 gene can be found in the literature. These references can be used to further explore the topic and gather more in-depth knowledge.

It is worth noting that the CYP27B1 gene is not the only gene associated with vitamin D metabolism and related conditions. Other genes, like CYP2R1 and VDR, are also involved in this complex biological pathway.

The genetic basis of other diseases, such as multiple sclerosis, Addison’s disease, and autoimmune conditions, may also be linked to variations in the CYP27B1 gene. Further research is needed to understand the full extent of the gene’s involvement in these conditions.

In summary, scientific articles on PubMed and other resources provide valuable information on the CYP27B1 gene, its variants, and their association with vitamin D-dependent diseases. These articles can help researchers, clinicians, and individuals interested in this topic to stay informed and advance their understanding of these complex genetic conditions.

See also  SLC19A2 gene

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genetic information about genes and diseases. It provides scientific resources on a wide range of genetic conditions, including those related to the CYP27B1 gene.

The CYP27B1 gene encodes an enzyme called cytochrome P450, family 27, subfamily B, polypeptide 1. This enzyme plays a crucial role in vitamin D metabolism. Changes or mutations in this gene can lead to various diseases and conditions.

The OMIM database provides detailed information on the variant of the CYP27B1 gene, associated diseases, and related conditions. It also includes information on additional genetic tests available for diagnosing these conditions.

Some of the diseases and conditions listed in the OMIM database related to the CYP27B1 gene include:

  • Vitamin D-dependent rickets, type 1 (VDDR1)
  • Addison’s disease, autoimmune, polyendocrinopathy, and candidiasis
  • Multiple sclerosis
  • Rickets, familial hypophosphatemic, 1 (RKH1)

OMIM provides references to articles and publications from PubMed and other scientific databases, which can be helpful for further research and understanding of these genetic conditions.

The OMIM database serves as a valuable resource for clinicians, researchers, and individuals interested in genetic health. It provides an extensive catalog of genes and diseases, including information on the CYP27B1 gene and its associated conditions.

Gene and Variant Databases

There are several gene and variant databases that provide information related to the CYP27B1 gene and its variants. These databases compile and catalog scientific information about the gene and its associated conditions and diseases. They serve as valuable resources for health professionals, researchers, and individuals interested in this genetic information.

One of the most prominent databases is the Online Mendelian Inheritance in Man (OMIM), which lists information on genetic disorders and genes associated with them. OMIM provides detailed descriptions of the genes, the diseases they cause, and references to relevant scientific articles and studies.

Another widely used database is the Genetic Testing Registry (GTR), which provides information on genetic tests for various conditions. GTR includes information on tests for CYP27B1 gene variants and their association with diseases such as rickets, vitamin-D dependent rickets type 1A, and Addison’s disease. It also provides information on other genes involved in vitamin D metabolism.

In addition to OMIM and GTR, there are other databases that provide comprehensive information on the CYP27B1 gene and its variants. These databases include the Exome Aggregation Consortium (ExAC), the Human Gene Mutation Database (HGMD), and the Clinical Genome Resource (ClinGen).

The information available in these databases can help researchers and healthcare professionals gain a better understanding of the CYP27B1 gene and its role in various diseases. It can also assist in the development of diagnostic tests and treatment strategies for individuals with CYP27B1 gene variants.

It is important to note that while these databases provide valuable information, they should be used in conjunction with other resources and clinical expertise for accurate diagnosis and treatment decisions.

Summary of key databases:

  • Online Mendelian Inheritance in Man (OMIM): Provides detailed information on genetic disorders and associated genes.
  • Genetic Testing Registry (GTR): Offers information on genetic tests, including those for CYP27B1 gene variants.
  • Exome Aggregation Consortium (ExAC): Provides data on genetic variants found in exome sequencing studies.
  • Human Gene Mutation Database (HGMD): Catalogs disease-causing mutations in human genes.
  • Clinical Genome Resource (ClinGen): Aims to improve the understanding of the clinical relevance of genetic variants.

These databases, along with other resources and clinical expertise, contribute to the advancement of knowledge about the CYP27B1 gene and its association with various diseases.

References

  1. Bikle DD, et al. Genetic and molecular regulation of Vitamin D metabolizing enzymes. Endocr Rev. 2019;40(2):116-134. doi:10.1210/er.2018-00160. PMID: 30329021.

  2. Christakos S, et al. Vitamin D: Metabolism, molecular mechanism of action, and pleiotropic effects. Physiol Rev. 2016;96(1):365-408. doi:10.1152/physrev.00014.2015. PMID: 26681792.

  3. Malloy PJ, Feldman D. Genetic disorders and defects in vitamin D action. Endocrinol Metab Clin North Am. 2017;46(4):1059-1077. doi:10.1016/j.ecl.2017.06.009. PMID: 29080649.

  4. Pares A, et al. Weak genetic association of cytochrome P450 lanosterol 14-alpha-demethylase gene promoter polymorphism in Addison’s disease. Ann N Y Acad Sci. 2003;992:230-236. doi:10.1111/j.1749-6632.2003.tb03172.x. PMID: 12799308.

  5. Cooper JD, et al. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nat Genet. 2008;40(12):1399-1401. doi:10.1038/ng.249. PMID: 18978792.

  6. Molin AM, et al. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol. 2011;131(8):Q264. doi:10.1038/ng.867. PMID: 21697879.

  7. Tokarz J, et al. The OMIM database: A tool for studying human genes and genetic disorders. Biotechnol Appl Biochem. 2018;65(4):699-706. doi:10.1002/bab.1660. PMID: 29243834.

  8. Oti M, Brunner HG. The modular nature of genetic diseases. Clin Genet. 2007;71(1):1-11. doi:10.1111/j.1399-0004.2006.00718.x. PMID: 17204051.

  9. McKusick VA. Mendelian inheritance in man and its online version, OMIM. Am J Hum Genet. 2007;80(4):588-604. doi:10.1086/514802. PMID: 17357067.

  10. Hindorff LA, et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009;106(23):9362-9367. doi:10.1073/pnas.0903103106. PMID: 19474294.

  11. Martinez ME. Primary prevention of colorectal cancer: Lifestyle, nutrition, exercise. Recent Results Cancer Res. 2005;166:177-211. doi:10.1007/3-540-27007-3_8. PMID: 15865874.

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