PHGDH gene

The PHGDH gene, also known as phosphoglycerate dehydrogenase, is a genetic condition that affects the production of phosphoglycerate in the body. This gene is listed in various genetic databases, including OMIM and the Genetic Testing Registry, and has been the subject of scientific articles and research. Mutations or changes in the PHGDH gene can result in a deficiency of the protein dehydrogenase, causing severe health conditions.

Publications on the PHGDH gene can be found in scientific journals and databases such as PubMed. These resources provide additional information on the genetic changes associated with this gene, as well as testing and diagnostic procedures for related diseases. The Genetic Testing Registry is a comprehensive catalog of genetic tests, providing references to health care providers and patients.

Given the importance of the PHGDH gene in the production of phosphoglycerate and its link to severe genetic conditions, it is crucial to have access to reliable and up-to-date information. Genetic databases and scientific articles can help healthcare professionals and researchers better understand and diagnose disorders associated with mutations in the PHGDH gene. Further research and testing are necessary to expand our knowledge and develop effective treatments for patients with PHGDH gene-related deficiencies.

Health Conditions Related to Genetic Changes

Genetic changes in the PHGDH gene can lead to various health conditions. The PHGDH gene is responsible for encoding the enzyme phosphoglycerate dehydrogenase, which is involved in the production of the amino acid serine.

Changes in this gene can result in a deficiency of the phosphoglycerate dehydrogenase enzyme, leading to a condition called phosphoglycerate dehydrogenase deficiency. This deficiency can cause severe developmental delay and intellectual disability in affected individuals.

Testing for genetic changes in the PHGDH gene can be done through genetic testing, and identification of these changes can help in diagnosing phosphoglycerate dehydrogenase deficiency. Additional tests, such as metabolic tests and enzyme activity tests, can also be performed to confirm the diagnosis.

Genetic changes in the PHGDH gene are also related to other diseases and health conditions. These include but are not limited to:

  • Neurodevelopmental disorders
  • Epilepsy
  • Behavioral abnormalities
  • Seizures
  • Structural brain abnormalities

For more information on the health conditions related to genetic changes in the PHGDH gene, you can refer to scientific literature and databases. Some useful resources include:

  1. Online Mendelian Inheritance in Man (OMIM)
  2. PUBMED
  3. GeneReviews

These resources provide references and additional information on the genetic changes, diseases, and conditions associated with the PHGDH gene.

It is important to note that the list of health conditions related to genetic changes in the PHGDH gene is not exhaustive and may vary depending on individual cases. Therefore, it is recommended to consult with healthcare professionals and genetic specialists for accurate diagnosis and management of these conditions.

Phosphoglycerate dehydrogenase deficiency

Phosphoglycerate dehydrogenase deficiency is a genetic condition caused by changes in the PHGDH gene. Phosphoglycerate dehydrogenase (PHGDH) is a protein involved in the production of the amino acid serine. This condition is also known as phosphoglycerate dehydrogenase (PHGDH) deficiency.

This genetic deficiency can result in severe delays in development and intellectual disabilities. It is considered a rare disease, with only a few documented cases.

To diagnose phosphoglycerate dehydrogenase deficiency, genetic testing is usually required. This test analyzes the PHGDH gene for any variants or changes that may be associated with the condition. Additional tests may also be used to evaluate the levels of serine in the blood or urine.

Information about phosphoglycerate dehydrogenase deficiency can be found in various scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two widely used resources that provide a catalog of genetic conditions and related articles. In these databases, the condition may be listed by different names, such as PHGDH deficiency or phosphoglycerate dehydrogenase deficiency.

For additional information and resources on phosphoglycerate dehydrogenase deficiency, individuals and families can consult with healthcare professionals and genetic counselors. These professionals can provide guidance on testing, treatment options, and support services for individuals affected by this condition.

References:

Other Names for This Gene

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

  • Phosphoglycerate dehydrogenase
  • Phosphoglycerate dehydrogenase 1
  • PHD

These names reflect the different ways this genetic information is referred to in scientific databases and publications. The first registry for genetic tests and related information on genes and genetic conditions, called Online Mendelian Inheritance in Man (OMIM), lists additional names for this gene as well.

See Also:  Nager syndrome

Genetic changes in the PHGDH gene have been associated with phosphoglycerate dehydrogenase deficiency and may be linked to other diseases and conditions. Some of these conditions include severe congenital microcephaly, muscular atrophy, and neurological disorders.

References to this gene can be found in scientific articles and resources, such as PubMed, which is a comprehensive database of scientific literature. The PHGDH gene is also referenced in the catalog of genetic variants, ClinVar.

For more information on the PHGDH gene and its associated conditions, you can refer to the resources listed below:

  1. Online Mendelian Inheritance in Man (OMIM)
  2. PubMed
  3. ClinVar

Additional Information Resources

For additional information about the PHGDH gene, dehydrogenase protein, and related genetic conditions, the following resources may be useful:

  • PubMed: PubMed is a scientific database that provides access to articles on a wide range of topics, including genetics and genetic diseases. Searching for “PHGDH gene” or “phosphoglycerate dehydrogenase gene” in PubMed can yield valuable research articles and scientific information.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the PHGDH gene and its associated diseases, as well as references to scientific articles and other relevant resources.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database that provides information on genetic tests available for various genetic conditions. The GTR may have listings for genetic tests related to PHGDH gene changes or deficiency.
  • GeneReviews: GeneReviews is a database of expert-authored, peer-reviewed articles on genetic conditions. GeneReviews may have articles on PHGDH gene related diseases and conditions, providing information on their signs, symptoms, and management.
  • Other Genetic Databases: Various genetic databases, such as ClinVar and GeneCards, may contain information on PHGDH gene variants, their clinical significance, and associated diseases or conditions.

These resources can help in understanding the PHGDH gene, its role in phosphoglycerate production, and the genetic changes that result in PHGDH gene deficiency or related conditions. They can also provide references for further reading and information on testing options for the PHGDH gene.

Tests Listed in the Genetic Testing Registry

In the context of the PHGDH gene, there are various tests listed in the Genetic Testing Registry (GTR) that are related to the gene, its variants, and the associated conditions.

The GTR is a catalog of genetic tests and their associated information, including the names of genes tested, the conditions they are related to, and the availability of the tests.

Testing for variants in the PHGDH gene can be done to identify changes in the protein production. This gene is responsible for encoding the enzyme phosphoglycerate dehydrogenase (PHGDH), which plays a role in the production of a molecule called 3-phosphoglycerate.

Deficiency in PHGDH can result in a severe delay in the production of 3-phosphoglycerate, which can lead to a range of diseases and conditions.

There are other genes and genetic variants that may also be tested, as they can contribute to the overall health and result in similar conditions. The GTR provides information on these genes and their associated tests as well.

Additional resources and databases, such as PubMed, can be referenced to find scientific articles and information on the specific tests, gene variants, and related conditions.

Overall, the GTR serves as a valuable resource for finding information on genetic tests related to the PHGDH gene, variants, and the associated conditions. It provides a comprehensive catalog of tests and associated information to aid in genetic testing and diagnosis.

Scientific Articles on PubMed

PubMed is a well-known database for scientific articles in the field of genetics and health. It provides a valuable resource for information on various genetic conditions, including severe genetic diseases caused by changes in the PHGDH gene.

The PHGDH gene encodes an enzyme called phosphoglycerate dehydrogenase, which is essential for the production of serine, an important amino acid. Variants in this gene can result in a condition called phosphoglycerate dehydrogenase deficiency, leading to a delay in serine production and associated health problems.

When searching for information on the PHGDH gene and related conditions, PubMed can be an excellent resource. Here, you can find scientific articles related to this gene, including studies on genetic testing, protein function, and the impact of genetic variants on health.

PubMed provides a comprehensive catalog of scientific articles that can be searched using various keywords and filters. You can use specific terms like “PHGDH gene” or “phosphoglycerate dehydrogenase deficiency” to find articles related to these topics.

See Also:  KBG syndrome

In addition to PubMed, there are other databases and resources that can provide further information on the PHGDH gene. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding genetic information and references to relevant articles, while the Genetic Testing Registry (GTR) lists genetic tests for PHGDH gene variants and related conditions.

Other Resources:
Resource Description
PubMed A database of scientific articles
Online Mendelian Inheritance in Man (OMIM) A database of genetic information and references
Genetic Testing Registry (GTR) A catalog of genetic tests related to PHGDH gene variants and associated conditions

By exploring scientific articles on PubMed and utilizing other resources, you can gain a better understanding of the PHGDH gene and its implications for health. This information can be valuable for researchers, clinicians, and individuals seeking more insights into this genetic condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genetic conditions and the genes associated with them. It provides information on various diseases and their related genes, including the PHGDH gene.

PHGDH Gene

The PHGDH gene, also known as Phosphoglycerate dehydrogenase, plays a crucial role in the production of the amino acid serine. Changes in this gene can lead to PHGDH deficiency, a severe genetic condition that affects serine production.

Genetic Testing and Other Resources

The Catalog of Genes and Diseases from OMIM provides additional resources for genetic testing and information on genetic variants associated with PHGDH deficiency. These resources can help healthcare professionals in diagnosing and managing this condition.

Catalog of Diseases

The catalog lists various diseases and conditions associated with the PHGDH gene, including PHGDH deficiency. Each disease is accompanied by relevant information, such as symptoms, inheritance patterns, and references to scientific articles.

OMIM and PubMed

The information in the Catalog of Genes and Diseases is sourced from the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive resource for genetic disorders. The catalog also provides references to relevant articles from PubMed, a biomedical literature database.

Registry of Genes

In addition to the PHGDH gene, the Catalog of Genes and Diseases includes information on other genes associated with different genetic conditions. The registry serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about specific genes and their implications on health.

Genetic Conditions and Health

The information provided in the catalog can help individuals understand their genetic conditions better and make informed decisions regarding their health. It can also facilitate research efforts in understanding the genetic basis of various diseases and developing effective treatments.

References

  1. Online Mendelian Inheritance in Man (OMIM) database
  2. PubMed articles on PHGDH gene

Gene and Variant Databases

Genetic databases are resources that store information on genes and genetic variants associated with specific diseases or conditions. These databases provide a valuable tool for researchers, clinicians, and individuals interested in understanding the impact of genetic changes on health and disease.

One well-known genetic database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the names of genes, the conditions they are associated with, and references to scientific articles and resources for further reading.

Another important genetic database is PubMed. PubMed is a repository of scientific articles and references related to genetics and other medical disciplines. It can be used to search for specific information on genes, variants, and related diseases.

In addition to these general genetic databases, there are also specialized databases that focus on specific genes or conditions. For example, the Severe Combined Immunodeficiency (SCID) gene database provides information on genetic changes in the genes related to this severe immunodeficiency disorder.

Phosphoglycerate dehydrogenase (PHGDH) gene variant databases are available for the specific genetic changes that result in deficiencies in this protein. These databases list the variants and their associated conditions, as well as additional information on testing and treatment options.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases and providing valuable information for genetic testing, diagnosis, and treatment.

References

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