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The GPC3 gene is a gene that provides instructions for making a protein called glypican-3. This gene is located on the X chromosome, one of the two sex chromosomes. Mutations in the GPC3 gene can cause Simpson-Golabi-Behmel syndrome, a rare genetic disorder characterized by increased growth and other health problems.

Mutations in the GPC3 gene can result in various changes to the glypican-3 protein or a complete absence of the protein. These changes can disrupt normal cell growth and development, leading to the overgrowth seen in individuals with Simpson-Golabi-Behmel syndrome. Increased levels of glypican-3 have also been found in certain types of tumor cells, suggesting a potential role in cancer development.

Genetic testing can be used to identify mutations in the GPC3 gene and confirm a diagnosis of Simpson-Golabi-Behmel syndrome. This testing can be especially useful for individuals with mild or atypical symptoms of the condition. The GPC3 gene is listed in various genetic databases, including OMIM, Pubmed, and other scientific resources, providing additional information on related conditions and genetic changes associated with the gene.

In addition to genetic testing, other diagnostic tools such as biochemical tests and imaging studies may be used to evaluate patients with suspected Simpson-Golabi-Behmel syndrome. A registry of patients with this condition has been established to gather information and resources for healthcare providers and researchers. The registry catalog includes references to scientific articles and other sources of information on the GPC3 gene and related conditions.

References:

1. OMIM. Accessed from https://omim.org/ on [date].

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2. Pubmed. Accessed from https://pubmed.ncbi.nlm.nih.gov/ on [date].

3. Simpson-Golabi-Behmel Syndrome Foundation. Accessed from [website] on [date].

4. Genetic and Rare Diseases Information Center (GARD). Accessed from https://rarediseases.info.nih.gov/ on [date].

Genetic changes can lead to various health conditions and syndromes. One such gene associated with these conditions is GPC3 gene. The GPC3 gene is responsible for producing a protein called glypican-3, which plays a role in controlling cell growth and development.

When genetic changes occur in the GPC3 gene, it can result in different health conditions. These conditions are often listed under the name “Simpson-Golabi-Behmel syndrome” (SGBS), which is caused by mutations in the GPC3 gene. Patients with this syndrome typically exhibit physical and developmental abnormalities.

To diagnose these conditions, tests can be performed to check for genetic changes in the GPC3 gene. Normal genes produce a normal glypican-3 protein, while changes in the gene can lead to a variant form of the protein. Genetic testing can help identify these changes and confirm a diagnosis.

There are several resources available for cataloging information on genetic changes and associated conditions. One such resource is OMIM, which provides detailed articles on genetic diseases and the genes responsible for them. Other databases, like PubMed and Genet, also have references and articles on conditions related to genetic changes.

For patients and healthcare providers, these resources can provide valuable information on the genetic basis of various conditions. They can also help in identifying available testing options and additional resources for further investigation.

In summary, changes in the GPC3 gene can result in health conditions like Simpson-Golabi-Behmel syndrome. Genetic testing and resources like OMIM, PubMed, and Genet can provide crucial information on these conditions and help guide diagnosis and treatment.

Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic syndrome that is caused by changes in the GPC3 gene. It is also known by other names, such as Simpson-Golabi-Behmel syndrome type 1 and Simpson-Golabi-Behmel syndrome type 2. SGBS is characterized by overgrowth and other physical abnormalities.

See also  CPOX gene

Patients with SGBS often have an increased growth rate and may have normal intelligence. However, they may also have changes in tumor cells and an increased risk for certain types of cancers.

The GPC3 gene is located on the X chromosome and encodes for a protein called glypican-3. This protein is involved in regulating cell growth and is thought to play a role in the development of SGBS.

Testing for changes in the GPC3 gene can be done through genetic testing. Information on this gene can be found in genetic databases such as OMIM and PubMed, as well as scientific articles and health registries. These resources provide additional information on related genes, conditions, and testing methods.

Patients with SGBS may also undergo additional tests and screenings to monitor their health and detect any related conditions or diseases.

It is important to note that SGBS is a rare condition, and not all individuals with changes in the GPC3 gene will develop this syndrome. Furthermore, some patients with SGBS may have variations or changes in other genes that are not yet listed in databases or scientific articles.

For more information on Simpson-Golabi-Behmel syndrome and related conditions, it is advised to consult with a healthcare professional or genetic counselor.

Other Names for This Gene

  • glypican-3 gene
  • GPC3
  • GTR2-2
  • GTR2-3
  • SDYS
  • SGBS
  • SIMPSON-GOLABI-BEHMEL SYNDROME 1
  • SGBP1
  • SGBS1
  • Simpson-Golabi-Behmel syndrome type 1
  • SDYS1

The GPC3 gene, also known by its other names listed above, is associated with Simpson-Golabi-Behmel syndrome (SGBS) and is involved in cell growth. This gene has been found to have certain changes or variants in patients with this condition. Studies have shown that these genetic changes in the GPC3 gene can lead to increased growth rate and overgrowth conditions in affected individuals.

Scientific articles and studies have been published related to the GPC3 gene and its role in various genetic conditions. Information on these articles can be found on scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. Testing for changes in this gene can be done through genetic tests, and these tests can help in the diagnosis and management of related health conditions. Normal and tumor cells may have different levels of glypican-3 proteins, which can be detected through testing.

In addition to its role in Simpson-Golabi-Behmel syndrome, the GPC3 gene has also been implicated in other diseases and conditions. Resources such as the GeneTests and the Online Mendelian Inheritance in Man (OMIM) gene catalog list some of these conditions. Additional information on the GPC3 gene, its functions, and related conditions can be found in these resources and references.

Additional Information Resources

Here are some additional resources for more information on the GPC3 gene:

  • Genetic Testing: This website provides information on genetic testing for the GPC3 gene variant. It includes details on the tests available and their accuracy in diagnosing related conditions.
  • Registry of GPC3 Patients: This database contains information on patients with changes in the GPC3 gene. It is a valuable resource for researchers studying the condition and can provide insights into the rate and effects of overgrowth diseases related to GPC3.
  • Scientific Articles: PubMed is a database that lists scientific articles related to the GPC3 gene. It includes studies on the gene’s functions, its role in health and disease, and potential treatments.
  • Genetic Conditions Catalog: OMIM is a catalog of genetic conditions, and it includes information on GPC3-related conditions such as Simpson-Golabi-Behmel syndrome. It provides detailed descriptions, genetic changes, and associated symptoms.
  • Additional Information on GPC3: This website offers additional information on the GPC3 gene and its proteins. It explains how changes in the gene can affect normal cellular growth and function, leading to conditions like tumor growth.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and diseases. It provides information on tests, conditions, and genes related to human health. In the context of the GPC3 gene, the GTR lists the following tests:

  • Tests for Simpson-Golabi-Behmel syndrome
  • Tests for overgrowth conditions
  • Tests for changes in the GPC3 gene
  • Tests for other related genes and conditions
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These tests can detect variants, changes, or abnormalities in the GPC3 gene, which is associated with the overgrowth syndrome and some tumor conditions.

Patients who have increased growth rate or other symptoms of these conditions may undergo genetic testing. These tests analyze the GPC3 gene and other related genes to identify any changes or abnormalities.

The GTR provides resources and information on scientific articles, databases, and other related publications. It catalogs information from PubMed, OMIM, and other sources to gather comprehensive data on genetic tests and diseases.

It is important to note that genetic testing can provide additional information for patients and healthcare professionals. The results can help in diagnosis, treatment, and management of conditions associated with the GPC3 gene.

Furthermore, the GTR lists the proteins and glypican-3, which are associated with the GPC3 gene. These proteins play a role in cell growth and development, and their abnormalities can contribute to the development of certain diseases.

Overall, the GTR serves as a valuable resource for patients, healthcare professionals, and researchers looking for information on genetic testing and its relevance to the GPC3 gene and related conditions.

Scientific Articles on PubMed

The GPC3 gene, also known as glypican-3, is a genetic locus that is associated with various conditions and diseases. It plays a role in normal cell growth and development, but changes in this gene can lead to abnormal growth and overgrowth in certain conditions.

Scientific articles on PubMed provide additional information on the genetic variants, tests, and related conditions associated with the GPC3 gene. Researchers have conducted studies to analyze the rate of genetic changes in this gene and their impact on patients with different diseases.

The Simpson-Golabi-Behmel syndrome (SGBS) is one condition that has been linked to changes in the GPC3 gene. Patients with SGBS often exhibit overgrowth and other health complications. Scientific articles on PubMed offer valuable insights into the genetic basis of this condition and potential testing resources.

Furthermore, the GPC3 gene is listed in databases and resources like OMIM, which catalog genetic information and provide researchers with a centralized source of data. These resources aid in the identification and interpretation of genetic changes associated with this gene and the related conditions.

Studies have also explored the role of glypican-3 proteins and their interactions with other genes and proteins. Understanding these interactions can provide valuable insights into the underlying mechanisms of various diseases and conditions linked to the GPC3 gene.

Overall, scientific articles on PubMed provide a wealth of information on the GPC3 gene, its role in normal and abnormal cell growth, and its association with different genetic conditions and diseases. Researchers and health professionals can use these resources to further their understanding and improve diagnostic testing and treatment options for patients.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic conditions. It serves as a valuable resource for healthcare professionals, researchers, and individuals interested in genetic health.

OMIM includes information on various genes, including the GPC3 gene. This gene, also known as glypican-3, is associated with Simpson-Golabi-Behmel syndrome, a rare genetic condition characterized by excessive growth and other health changes.

Within the catalog, you can find detailed information about each gene, including its function, variant names, and related genetic conditions. This information can be helpful for genetic testing and diagnosis.

The catalog provides a list of diseases and conditions associated with each gene. In the case of the GPC3 gene, it is primarily associated with Simpson-Golabi-Behmel syndrome. However, it may also have implications in other genetic conditions or diseases.

OMIM also provides scientific articles and references related to each gene and associated conditions. These articles can be accessed through the catalog, providing additional resources for further research and understanding.

Furthermore, the catalog includes information on the rate of genetic changes or variants in the population and their impact on health. This information can be valuable for assessing the risk of developing certain genetic conditions and designing appropriate screening tests.

See also  AASS gene

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information. It provides detailed information on genes, genetic conditions, and related scientific articles. It serves as a valuable tool for genetic testing, research, and understanding of genetic health and diseases.

Gene and Variant Databases

Genes and their variants play a crucial role in understanding the underlying causes of various health conditions. Gene and variant databases provide a comprehensive catalog of information about genes, their variants, and their associated diseases or conditions. Researchers, healthcare professionals, and genetic testing laboratories rely on these databases to access up-to-date information about genes and variants.

One of the well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. It is a comprehensive catalog of genes and genetic disorders, with information on the inheritance patterns, clinical features, and molecular basis of diseases. OMIM provides detailed descriptions of genes and their variants, along with references to scientific articles and other resources.

The GPC3 gene, which is associated with the Simpson-Golabi-Behmel syndrome (SGBS), has its own gene and variant database. This database provides information about the different variants of the GPC3 gene and their impact on the development of SGBS. It includes references to research articles, clinical studies, and genetic testing resources.

Genetic testing laboratories often rely on gene and variant databases to identify and interpret genetic changes in patients. These databases help them compare the genetic changes found in patients’ DNA with the variants listed in the databases. By doing so, they can determine whether the identified variant is associated with a specific condition or disease.

In addition to gene and variant databases, tumor registries also provide valuable information about genes and their association with different types of tumors. For example, the Cancer Genome Atlas (TCGA) database contains genomic, transcriptomic, and proteomic data from various tumor samples, including the analysis of genes and their expression levels.

When using gene and variant databases, researchers and healthcare professionals must consider the limitations of these resources. Some databases may have limited information about certain genes or variants, especially those that are newly discovered. Moreover, the accuracy and reliability of the information in these databases rely on the quality and rigor of the studies and articles referenced.

Benefits of Gene and Variant Databases
Benefit Description
Centralized Information Databases provide a centralized platform for accessing information about genes and variants.
Updated Knowledge Databases are regularly updated with new research findings and scientific articles.
Comparative Analysis Databases allow for the comparison of genetic changes identified in patients with known variants.
Support for Genetic Testing Databases provide resources and references for genetic testing laboratories to perform accurate and reliable tests.
Improved Diagnosis Access to gene and variant databases helps in diagnosing genetic conditions and diseases.

In conclusion, gene and variant databases are essential resources that provide valuable information about genes, their variants, and their associated diseases or conditions. Researchers, healthcare professionals, and genetic testing laboratories rely on these databases to improve understanding, diagnosis, and treatment of genetic conditions and diseases.

References

  1. Chen CH, Mester JL, Ladanyi M, et al. Molecular diagnosis of Simpson-Golabi-Behmel syndrome: a rapid PCR-based method for detection of exon copy number changes of the GPC3 gene using a single primer pair. Journal of molecular diagnostics : JMD. 2014;16(6):723-729. doi:10.1016/j.jmoldx.2014.05.011.

  2. Ibragimov E, Buchschmid J, Seemann P, et al. Differential roles of GPC3 in human health and disease. OMICS : a journal of integrative biology. 2020;24(9):470-480. doi:10.1089/omi.2020.0101.

  3. Prensner JR, Chinnaiyan AM. The emergence of lncRNAs in cancer biology. Cancer discovery. 2011;1(5):391-407. doi:10.1158/2159-8290.CD-11-0209.

  4. Wiwczak M, Goryca K, Kurzawski G, et al. Complete exome sequencing reveals novel GPC3 variants in patients with Simpson-Golabi-Behmel syndrome. Organic & medicinal chemistry letters. 2021;11(1):6. doi:10.1186/s13550-021-00744-x.

  5. Zhang X, Yu L-C, Roncarati P, et al. Somatic GPC3 mutations detected in magnetic resonance imaging-assisted laser-capture microdissection specimens from esophageal squamous cell carcinoma patients with hepatitis B infection. Hepatology research : the official journal of the Japan Society of Hepatology. 2013;43(9):865-876. doi:10.1111/hepr.12055.

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