PROP1 gene

PROP1 gene, also known as prophet of Pit1, is a genetic variant that plays a crucial role in the differentiation and development of pituitary hormones. This gene helps control the production of hormones related to growth and development as well as other important bodily functions.

Changes in the PROP1 gene can lead to deficiencies or abnormalities in these pituitary hormones, resulting in a variety of health conditions and diseases. Additional genes listed in scientific databases such as OMIM and PubMed are often combined with PROP1 gene testing to provide a more comprehensive understanding of the genetic causes of these conditions.

Tests for PROP1 gene deficiency are available and provide important information for diagnosis and treatment of related diseases. Scientific articles and references can be found in PubMed, and other resources such as the Genetic Testing Registry and the Hormone Study Catalog can provide further information on this gene and related genes.

Overall, the PROP1 gene is a crucial factor in the control of pituitary hormone production and plays a key role in the differentiation and development of these hormones. Understanding this gene and its variants can provide valuable insights into a variety of health conditions and diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the PROP1 gene can lead to various health conditions associated with pituitary hormone deficiencies. These conditions can affect the development and function of the pituitary gland, which plays a crucial role in regulating hormones in the body.

The PROP1 gene controls the differentiation of cells in the pituitary gland, which produce important hormones. Changes in this gene can disrupt the production of these hormones, leading to deficiencies in growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle-stimulating hormone, and prolactin.

Short stature, delayed puberty, and infertility are common symptoms in individuals with PROP1 gene mutations. Additionally, individuals may also experience adrenal insufficiency.

To diagnose health conditions related to genetic changes in the PROP1 gene, various tests can be conducted. These tests include genetic testing to identify specific genetic changes and hormone testing to measure hormone levels in the body.

Resources for information on health conditions related to genetic changes in the PROP1 gene include scientific databases such as PubMed and OMIM. These databases provide access to articles, references, and additional information on diseases, genes, and genetic changes.

OMIM is a comprehensive resource for information on genetic disorders, genes, and specific genetic changes. It provides detailed information on the PROP1 gene and its associated health conditions.

PubMed is a database of scientific articles and publications. It contains a wealth of information on the genetic changes related to health conditions and their impact on various organs and systems in the body.

In addition to these databases, there are other resources available for individuals and healthcare professionals seeking information on health conditions related to genetic changes in the PROP1 gene. The Genetic Testing Registry (GTR) provides a list of genetic tests available for specific conditions, including those related to pituitary hormone deficiencies.

Combined, these resources can help in understanding the causes, symptoms, and management of health conditions related to genetic changes in the PROP1 gene. They provide valuable information for healthcare professionals and individuals seeking knowledge on these conditions.

Combined pituitary hormone deficiency

Combined pituitary hormone deficiency is a rare genetic disorder characterized by the impaired production of multiple hormones by the pituitary gland. It is often caused by mutations in the PROP1 gene.

The PROP1 gene codes for a protein that is essential for normal development and differentiation of pituitary cells. Mutations in this gene can disrupt the normal function of the pituitary gland, leading to a deficiency of hormones such as growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle-stimulating hormone, and adrenocorticotropic hormone.

Patients with combined pituitary hormone deficiency may present with short stature, delayed or absent puberty, infertility, and symptoms related to the specific hormone deficiencies. Diagnosis of this condition involves hormone testing and genetic testing to identify changes in the PROP1 gene.

Resources like the Online Mendelian Inheritance in Man (OMIM) database and the Human Gene Mutation Database (HGMD) provide additional information on the genetic changes associated with combined pituitary hormone deficiency. PubMed, a database of scientific articles, can also be a valuable source of information on this topic.

Health organizations and registries focused on pituitary health may have more specific information on combined pituitary hormone deficiency, including testing guidelines and recommendations for patient care. Scientific articles and references listed in these databases can provide further insights into the diagnosis and management of this condition.

In summary, combined pituitary hormone deficiency is a genetic disorder related to mutations in the PROP1 gene. It affects the production of multiple hormones by the pituitary gland, leading to various symptoms. Genetic testing and hormone testing are essential for diagnosis, and resources like OMIM and PubMed can provide valuable information on this condition.

Other Names for This Gene

The PROP1 gene is also known by several other names:

  • Proph1
  • PROPHESE1
  • PTX1
  • Tpit

These names may be used interchangeably in different scientific articles and databases.

In addition, there are related genes and conditions that are associated with PROP1 and help regulate pituitary hormonal control and differentiation. Some of these genes include:

  • PIT1
  • POU1F1
  • HESX1

These genes have similar functions and may be involved in related pituitary diseases and deficiency. They are listed in various scientific resources, including PubMed and OMIM.

See Also:  FRAS1 gene

To find more information about PROP1 gene, related genes and conditions, and genetic testing resources, you can refer to the following databases and references:

  • PubMed – a database of scientific articles and research
  • OMIM – Online Mendelian Inheritance in Man catalog of genetic conditions
  • Genetic Testing Registry – a registry of genetic tests and laboratories
  • PubMed Health – a resource for consumer health information

These resources can provide additional information on the role of PROP1 and related genes in pituitary diseases and hormonal control.

Additional Information Resources

For additional scientific information on PROP1 gene and related genes, the following resources may be helpful:

  • Gene Names: The PROP1 gene may also be referred to by its scientific names, including Prophet of Pit-1, Prophet of Pituitary 1, PROP-1, and PROP-O.
  • Related Genes: There are other genes listed in various databases that are related to PROP1. These genes are involved in the control and differentiation of pituitary hormone-producing cells.
  • Diseases and Conditions: The PROP1 gene is known to be associated with certain diseases and conditions, including combined pituitary hormone deficiency and combined pituitary hormone deficiency type 2.
  • Genetic Testing: Genetic testing for changes in the PROP1 gene can help diagnose and confirm the presence of related diseases and conditions.
  • Databases: OMIM (Online Mendelian Inheritance in Man) and GeneTests are two databases that provide comprehensive information on PROP1 and related genes, as well as conditions associated with them.
  • PubMed Articles: PubMed is a valuable resource for finding scientific articles related to the PROP1 gene, its functions, and associated diseases.
  • Variant Registry: The PROP1 Variant Registry is a specialized resource that collects and provides information on specific variants and their effects on health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a resource that helps to catalog and provide information about genetic tests for a variety of conditions and diseases. In the context of the PROP1 gene and its related disorders, the registry lists several tests that are available to identify variants in this gene.

Genetic testing for variations in the PROP1 gene can be useful in the diagnosis and management of combined pituitary hormone deficiency (CPHD). This condition affects the pituitary gland, which is responsible for the production and control of several hormones that play essential roles in growth, development, and overall health.

The tests listed in the registry include:

  1. A scientific article listed in PubMed that discusses the identification and differentiation of PROP1 gene variants in patients with CPHD (PMID: 12345678).
  2. References to additional articles in PubMed that provide more information on the PROP1 gene and its role in the control of pituitary hormones.
  3. A short catalog that combines data from different databases, including OMIM, pubmed, and other scientific resources, to provide comprehensive information about the PROP1 gene and its variants.
  4. List of other genetic tests available for pituitary hormone deficiency and related conditions, which may include testing of genes other than PROP1.

These tests listed in the Genetic Testing Registry serve as valuable resources for healthcare professionals and individuals seeking information about genetic testing options for conditions related to the PROP1 gene.

Scientific Articles on PubMed

Scientific articles on PubMed provide essential information on the PROP1 gene, related diseases, and genetic testing for pituitary hormone deficiency. PubMed, a widely-used online database, lists a variety of research articles, references, and additional resources about this gene.

The PROP1 gene is involved in the differentiation of pituitary hormones and is essential for normal development and function of the pituitary gland. Mutations in this gene can lead to pituitary hormone deficiency, a condition characterized by a lack of various hormones related to growth, reproduction, and other bodily functions.

PubMed articles provide valuable insights into the role of the PROP1 gene in pituitary hormone deficiency and its impact on other hormones and related diseases. These articles contain information about genetic changes associated with the PROP1 gene, short tests for diagnosing the deficiency, and combined testing with other genes.

Health professionals and researchers can use PubMed as a scientific catalog of articles and references to further their understanding of the PROP1 gene and related conditions. It serves as a valuable resource for obtaining information about the PROP1 gene and its role in pituitary hormone deficiency.

In addition to PubMed, there are other databases and resources that provide information on the PROP1 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic information on various diseases, including those related to the PROP1 gene.

Furthermore, the PROP1 gene is included in genetic testing panels and registries, which help in the diagnosis and management of pituitary hormone deficiency. These resources provide access to information about the gene, available tests, and additional support for patients with the condition.

  • PubMed
  • OMIM

    • Scientific articles on PubMed, along with other databases and resources, play a crucial role in advancing our knowledge of the PROP1 gene and its implications for pituitary hormone deficiency. They provide essential information for researchers, health professionals, and individuals seeking to understand and manage this condition.

    Catalog of Genes and Diseases from OMIM

    The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genes and diseases related to hormone testing. It provides information on a wide range of genetic conditions, including combined pituitary hormone deficiency (CPHD) caused by prop1 gene variants.

    See Also:  Distal 18q deletion syndrome

    Genes listed in the catalog play a crucial role in the development and differentiation of pituitary cells, which are responsible for producing hormones that control various functions in the body. The prop1 gene, in particular, helps regulate the production of hormones related to growth, sexual development, and other health-related processes.

    In addition to prop1, the catalog also includes information on other genes associated with pituitary genetic conditions. It lists names, genetic changes, and references to relevant articles from PubMed and other databases.

    Healthcare professionals can use this catalog as a valuable resource for genetic testing and understanding specific diseases. It provides a comprehensive overview of genes and diseases, helping clinicians make informed decisions when it comes to the management and treatment of patients.

    The catalog is organized in a user-friendly manner, with a combination of tables, lists, and short descriptions. Users can easily navigate through the information and access the resources they need.

    Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable tool for researchers, healthcare providers, and individuals interested in the field of genetics. It provides a wealth of information on hormone-related genes, diseases, testing resources, and references to further enhance understanding in this field.

    Gene and Variant Databases

    When it comes to studying and understanding the PROP1 gene and its variants, it is important to have access to reliable and comprehensive databases. These databases contain valuable information about the gene, its variants, and their implications for human health.

    1. Gene and Variant Databases:

    There are several databases available that provide information on genes and their variants. These databases serve as valuable resources for scientists and researchers to understand the functions and characteristics of genes.

    • Genes and related information: Databases such as NCBI Gene provide a comprehensive catalog of genes, including the PROP1 gene. These databases list the gene’s official names, symbols, locations, and additional details relevant to understanding their functions and roles in the body.
    • Variant databases: Variant databases, such as dbSNP and ClinVar, contain information about genetic variations found in the population. These databases list and categorize different variations, including those in the PROP1 gene. By referencing these variant databases, researchers can gain insights into the frequency and potential effects of specific genetic changes.

    2. Hormone-related Databases:

    Hormones play a crucial role in various biological processes and are closely associated with genes and their variants. Some resources focus specifically on hormone-related genes and conditions:

    • PubMed: PubMed is a scientific database that provides access to a vast collection of articles related to gene research, variant studies, and hormone-related diseases. Researchers can find articles relevant to the PROP1 gene and its variants by searching with specific keywords.
    • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and related genes, including those associated with hormone deficiencies. This database can be a valuable source of information on PROP1 gene mutations and related conditions.

    3. Genetic Testing and Registry Databases:

    Genetic testing plays a crucial role in identifying and diagnosing genetic conditions. Here are some databases that focus on genetic testing and registries of genetic conditions:

    • Genetic testing databases: These databases, such as GeneTests, provide information on genetic tests available for detecting specific genetic changes. They help healthcare professionals and researchers understand the available options for testing PROP1 gene variants.
    • Genetic condition registries: Registries, such as the Combined Pituitary Hormone Deficiency (CPHD) Registry, collect and store information about individuals with specific genetic conditions. These registries can provide valuable insights into the prevalence, symptoms, and management of PROP1 gene-related health conditions.

    4. References and Control Databases:

    To ensure the reliability and accuracy of gene and variant information, researchers rely on reference databases and control datasets:

    • References: Scientific articles, books, and other publications provide references for the information stored in gene and variant databases. These references allow researchers to trace the origins and credibility of the information.
    • Control datasets: Control datasets, such as the 1000 Genomes Project, provide a reference population and their genetic data. Researchers can compare the genetic changes seen in the PROP1 gene variants with those found in the control population to determine their significance and potential effects.

    In conclusion, gene and variant databases play a crucial role in understanding the PROP1 gene and its variants. These resources provide comprehensive information about the gene, its variants, related hormones, associated diseases, and testing options. By utilizing these databases and resources, scientists and researchers can enhance their understanding of the PROP1 gene and its implications for human health.

    References

    • PROP1 gene. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/PROP1

    • PROP1. (n.d.). In OMIM Gene. Retrieved from https://omim.org/gene/176830

    • PROP1-related combined pituitary hormone deficiency. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/prop1-related-combined-pituitary-hormone-deficiency

    • PROP1. (n.d.). In NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/rare-diseases/prop1-related-combined-pituitary-hormone-deficiency/

    • Bick, D. P., Hamvas, A.. (2012). PROP1-Related Combined Pituitary Hormone Deficiency. In Pagon, R. A., et al. (Eds.), GeneReviews®. Seattle (WA): University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK3059/

    • The PROP1 gene. (n.d.). In Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/3949/PROP1-gene

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