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The PHEX gene is a genetic sequence that encodes a protein known as Phosphate-regulating gene with Homologies to Endopeptidases on the X chromosome (PHEX). This protein plays a crucial role in the reabsorb of phosphate, a vital mineral for the formation of bones and teeth. Mutations in this gene can lead to a condition called X-linked hypophosphatemic rickets (XLH), which is characterized by abnormal phosphate levels in the blood and impaired bone development.

Individuals with XLH have a variant PHEX gene that causes the protein to be less effective in its phosphate reabsorption function. This results in low phosphate levels and high levels of a hormone called fibroblast growth factor 23 (FGF23), which inhibits the production of active vitamin D and reduces the intestine’s ability to absorb phosphate. Consequently, individuals with XLH experience skeletal abnormalities, dental problems, and growth and bone development issues.

The PHEX gene is listed in various genetic databases, including OMIM and PubMed. These resources provide valuable information on the gene, including its genetic changes and associated conditions and diseases. They also offer references to scientific articles and other resources for further reading. Additionally, genetic testing for mutations in the PHEX gene can help in the diagnosis of XLH and other related conditions.

In conclusion, the PHEX gene plays a critical role in the regulation of phosphate levels and bone development. Mutations in this gene can result in X-linked hypophosphatemic rickets, a condition characterized by abnormal phosphate levels and impaired bone formation. Various databases and resources provide information and testing options related to the PHEX gene, helping individuals and healthcare professionals in understanding and managing XLH and similar conditions.

The PHEX gene plays a crucial role in the formation of phosphate in the body. Genetic changes in this gene can lead to various health conditions and diseases. Some of the health conditions related to genetic changes in the PHEX gene include:

  • X-Linked Hypophosphatemic Rickets: Individuals with genetic changes in the PHEX gene may develop X-linked hypophosphatemic rickets, a hereditary disorder that affects the body’s ability to reabsorb phosphate from the kidneys. This condition leads to abnormal bone development and can result in symptoms such as bowed legs and dental problems.

Genetic testing is normally conducted to identify these genetic changes in the PHEX gene. Additional tests may be needed to further evaluate the condition.

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For more information on these health conditions related to genetic changes in the PHEX gene, the following resources may be helpful:

  • OMIM Database: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic changes associated with X-linked hypophosphatemic rickets and other related conditions.
  • PubMed: PubMed is a vast database of scientific articles and publications on various health conditions. It contains references to research articles related to genetic changes in the PHEX gene and their association with different diseases.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) contains information about genetic tests and laboratories that offer testing services. It provides a list of genetic tests available for PHEX gene mutations and related health conditions.

These resources can provide additional information and references for individuals seeking more information on health conditions related to genetic changes in the PHEX gene.

Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets refers to a group of genetic conditions characterized by low levels of phosphate in the blood (hypophosphatemia) leading to impaired bone formation and skeletal abnormalities. This condition primarily affects the development of bones, causing them to be weak and prone to fractures.

The PHEX gene plays a crucial role in regulating phosphate levels in the body. Mutations in this gene can disrupt the normal reabsorption of phosphate by the kidneys, leading to excessive excretion of phosphate in the urine. This ultimately results in low levels of phosphate in the blood.

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Phosphate is an essential mineral that plays a key role in bone mineralization. It helps in the formation and maintenance of healthy bones and teeth. In individuals with hereditary hypophosphatemic rickets, the low levels of phosphate interfere with proper bone formation and mineralization, leading to skeletal abnormalities.

Fibroblast growth factor 23 (FGF23), a hormone released by bone cells, is also involved in the regulation of phosphate levels. In hereditary hypophosphatemic rickets, FGF23 levels are increased, further impairing phosphate reabsorption in the kidneys.

This condition can be inherited in an X-linked recessive manner, meaning that the gene mutation responsible for the condition is located on the X chromosome. However, other modes of inheritance have also been reported.

Testing for mutations in the PHEX gene can help confirm the diagnosis of hereditary hypophosphatemic rickets. Genetic testing can detect changes or variants in this gene, providing important information for patients and their families.

Additional resources and databases such as OMIM, PubMed, and genetic variant catalogs can provide more scientific articles and references related to hereditary hypophosphatemic rickets and other related conditions. These resources can help healthcare professionals and individuals seeking more information on this genetic disease.

Other Names for This Gene

The PHEX gene is known by several other names:

  • Genes involved in testing: Genet 92419
  • Names on online Mendelian inheritance in man (OMIM): X-linked hypophosphatemic rickets (XHLR), X-linked hypophosphatemia, X-linked dominant hypophosphatemic rickets, XLHED (X-linked hypohidrotic ectodermal dysplasia), CRDDS (hypophosphatemic rickets with hypercalciuria), FHH2 (fibrous dysplasia with McCune-Albright syndrome, Caffey disease), EDA1 (ectodermal dysplasia 1, hypohidrotic/hair/nail type), and HYP1A (hypophosphatemic rickets, phosphate reabsorption-deficient)
  • Names on the Genetic Testing Registry: X-linked hypophosphatemia, Craniometaphyseal dysplasia, Autosomal recessive hypophosphatemic rickets, and Hypophosphatemic rickets, phosphate reabsorption-deficient, with hypercalciuria
  • Names in scientific articles on PubMed: Phosphate-regulating gene with homologies to endopeptidases on the X chromosome, Phosphate-regulating gene with homologies to endopeptidases, X chromosome; and HPDR (hypophosphatemia, X-linked dominant)
  • Names related to health conditions listed in the Genetic Testing Registry: X-linked hypophosphatemia, rickets, rickets, vitamin D-resistant (VDDR), vitamin D-resistant rickets, hypophosphatemic rickets, X-linked (HYPX), and nutritional rickets
  • Other names for this gene include:
PHEX protein X-linked hypophosphatemic rickets protein Enamel renal syndrome Phosphate-regulating neutral endopeptidase X-linked Phosphate-regulating gene with homologies to endopeptidases X-linked

The PHEX gene plays a role in the formation and function of proteins, particularly FGF23, which helps regulate phosphate levels in the body. Changes in this gene can lead to X-linked hypophosphatemic rickets, a genetic disorder that affects the reabsorption of phosphate in the kidneys. More information about this gene can be found in the resources listed below:

Individuals who have symptoms or a family history of X-linked hypophosphatemic rickets may undergo genetic testing for changes in this gene. Additional scientific articles and databases may provide further references and information on other genetic diseases and conditions associated with the PHEX gene.

Additional Information Resources

For additional information on the PHEX gene, you can consult the following resources:

  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find detailed information on the PHEX gene and the diseases it is associated with in OMIM. The OMIM entry for PHEX includes a summary of the gene and its functions, as well as references to scientific articles and other resources related to PHEX.
  • Genetests – Genetests is a medical genetics information resource that provides information on genetic tests and the conditions they can help diagnose. The Genetests website provides a list of genetics clinics and laboratories that offer testing for PHEX gene variants. You can also find information on the clinical features and inheritance patterns of diseases related to PHEX on this website.
  • GENE – The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information on genetic and rare diseases. The GARD website provides an overview of the PHEX gene, its role in the body, and the diseases associated with PHEX gene mutations. It also includes information on genetic testing, research studies, and patient support resources for individuals with PHEX-related disorders.
  • PubMed – PubMed is a database of scientific articles in the field of medicine and biomedical research. Searching PubMed for “PHEX gene” will yield a list of scientific articles on this topic. These articles can provide more detailed information on the functions of the PHEX gene, the effects of gene mutations, and the role of PHEX in related diseases.
  • FGF23 and ADHR Registry – The Fibroblast Growth Factor 23 (FGF23) and Autosomal Dominant Hypophosphatemic Rickets (ADHR) Registry is a research database that collects clinical and genetic information on individuals with ADHR and related disorders. The registry aims to improve understanding of the genetic and biochemical basis of these conditions and to facilitate research on potential treatments. The registry website provides information on participating centers, contact information, and resources for clinicians and researchers.
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These resources can provide valuable information about the PHEX gene, the diseases it is associated with, and the available genetic testing options. They can also help individuals and families affected by PHEX-related disorders to find support, access to specialized healthcare, and participate in research studies.

Tests Listed in the Genetic Testing Registry

The PHEX gene is responsible for encoding a protein that plays a role in the reabsorption of phosphate in the kidneys. This gene is also associated with a number of genetic conditions, including X-linked hypophosphatemic rickets.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various diseases and conditions. The following tests are related to the PHEX gene:

  • Test 1: This test detects variants in the PHEX gene.
  • Test 2: This test evaluates changes in the PHEX gene that may be associated with X-linked hypophosphatemic rickets.
  • Test 3: This test helps identify individuals who may have mutations in the PHEX gene.

These tests are listed in the GTR, along with additional information and resources. The GTR is a valuable tool for healthcare professionals and individuals seeking genetic testing.

Other databases, such as PubMed and OMIM, also provide scientific references and information related to the PHEX gene and its role in various conditions. These resources can help healthcare professionals and researchers further understand the genetic basis of diseases associated with the PHEX gene.

Scientific Articles on PubMed

Here is a list of scientific articles related to the PHEX gene:

  • Proteins encoded by the PHEX gene: This article provides information on the different proteins encoded by the PHEX gene and their functions in phosphate reabsorption in the kidneys.
  • Hereditary hypophosphatemic rickets with hypercalciuria: This article discusses the role of the PHEX gene in the development of hereditary hypophosphatemic rickets with hypercalciuria and provides additional insights into the condition.
  • Additional resources for genetic testing: This article highlights additional resources available for genetic testing of the PHEX gene and related conditions.
  • PHEX gene and FGF23: This article explores the relationship between the PHEX gene and FGF23, a hormone involved in phosphate regulation, and its implications in phosphate-related diseases.
  • X-linked hypophosphatemic rickets: This article focuses on X-linked hypophosphatemic rickets, a condition caused by mutations in the PHEX gene, and provides an overview of the clinical features and management of the disorder.

For more information on the PHEX gene and related conditions, you can visit the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalogue of genetic conditions, and it provides detailed information on the PHEX gene and associated diseases.
  • PubMed: PubMed is a database of scientific articles, and searching for “PHEX gene” or related keywords will provide you with a wide range of articles on the topic.
  • Genetic Testing Registry: The Genetic Testing Registry lists laboratories offering genetic testing for the PHEX gene and related conditions.

These resources can help individuals seeking more information on the PHEX gene, its role in phosphate regulation, and associated diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive genetic database that provides information on various genetic disorders and the corresponding genes associated with them. This catalog serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the role of genes in human health.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues genetic conditions and the genes responsible for them. It includes information on both rare and common genetic disorders, their clinical characteristics, and their genetic basis.

One gene listed in the catalog is the PHEX gene. Mutations in this gene result in X-linked hypophosphatemic rickets, a hereditary disorder characterized by impaired phosphate reabsorption. The PHEX gene normally plays a role in the formation of phosphate-regulating proteins.

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The catalog provides names of genes and related diseases as well as other key information. It also includes references to scientific articles and additional resources for further reading and research.

For individuals interested in genetic testing, the catalog provides information on available tests for specific genes and diseases. This can be helpful for diagnosing genetic conditions or determining the likelihood of passing on a genetic disorder to offspring.

The catalog also helps researchers and healthcare professionals stay up-to-date on the latest discoveries and advancements in the field of genetics. It includes information on newly identified genes, disease variants, and their associated health conditions.

In addition to the PHEX gene, the catalog lists many other genes and diseases. Each entry includes a description of the gene’s role in normal physiology or disease pathology. This information is based on extensive research and scientific studies.

OMIM is regularly updated with new information from various sources, including PubMed, scientific journals, and other genetic databases. This ensures that the catalog remains a comprehensive and reliable resource for genetic information.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides comprehensive information on genes, diseases, and their associated health conditions. The catalog helps facilitate research, diagnosis, and understanding of genetic disorders and their underlying genetic changes.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers investigating genetic diseases and related conditions. These databases provide information on genes, variants, and their association with diseases.

One such gene involved in genetic diseases is the PHEX gene. Mutations in the PHEX gene are associated with X-linked hypophosphatemic rickets, a condition where the body is unable to properly reabsorb phosphate. The PHEX gene helps in the regulation of phosphate levels in the body by influencing the production of a protein called FGF23, among other proteins.

Researchers and healthcare professionals can utilize these gene and variant databases to explore the relationship between specific genes and diseases. The Online Mendelian Inheritance in Man (OMIM) is one such database that provides comprehensive information on genetic disorders, including those related to the PHEX gene and X-linked hypophosphatemic rickets. OMIM lists different variants of the PHEX gene and provides references to scientific articles and studies on the topic.

In addition to OMIM, there are other databases available for gene and variant information. These include the Human Gene Mutation Database (HGMD), which catalogs disease-causing genetic changes in genes, and PubMed, a repository for scientific articles and studies. These databases can aid researchers in identifying potential variants and their impact on genes and diseases.

Gene and variant databases play a crucial role in genetic testing and diagnosis. Genetic testing can identify variants in genes like PHEX, which can help in the diagnosis of genetic disorders like X-linked hypophosphatemic rickets. Knowing the specific variant can provide insights into the formation and progression of the disease, as well as potential treatment options.

Having access to these databases is beneficial for both researchers and individuals concerned about their genetic health. These resources provide a wealth of information on genes, variants, and their associations with diseases, aiding in better understanding and management of genetic conditions.

Additional Resources:

References

  • Allele names: For a catalog of FGF23 variant names, refer to the phosphate regulatory gene variant database.

  • Genes and related proteins: Additional information on the PHEX gene and related proteins can be found in the Online Mendelian Inheritance in Man (OMIM) database.

  • Genetic testing: For information on genetic testing for diseases related to the PHEX gene, consult health articles and resources such as PubMed and the Genetic Testing Registry (GTR).

  • Hypophosphatemic rickets: The role of the PHEX gene in the formation and reabsorption of phosphate and its link to hypophosphatemic rickets is discussed in scientific articles and publications.

  • X-linked hypophosphatemia: For information on X-linked hypophosphatemia, including genetic changes and testing, refer to the related articles and resources available on PubMed and OMIM.

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