The KHDC3L gene, also known as KHDC3L3, is a gene that has been found to be related to certain health conditions in women. It has been referenced in scientific articles and provides information on conditions such as recurrent hydatidiform moles.
Recurrent hydatidiform moles are a rare condition in which a woman experiences multiple abnormal pregnancies known as moles. These moles are the result of a genetic abnormality and can cause complications for women trying to conceive. The KHDC3L gene has been found to be involved in this condition and has been the focus of research for its potential role in understanding recurrent hydatidiform moles.
Research articles and studies on the KHDC3L gene can be found in scientific databases such as PubMed and OMIM. These resources provide additional information on the gene, its variant forms, and its potential role in other genetic diseases and conditions. The KHDC3L gene is also listed in genetic testing catalogs, which provide information on available tests for this gene and related conditions.
Overall, the KHDC3L gene is an important gene that is known to be involved in recurrent hydatidiform moles and other genetic conditions. Further research and testing are needed to fully understand its role and potential implications for women’s health.
Health Conditions Related to Genetic Changes
Genetic changes in the KHDC3L gene have been linked to various health conditions. These conditions may result from alterations in the normal functioning of the gene, leading to the development of diseases and disorders. Genetic testing can provide valuable information about these changes and their potential impact on an individual’s health.
The KHDC3L gene is known to be involved in mole, recurrent hydatidiform, a condition characterized by the abnormal growth of moles in the uterus. This condition can have serious health implications and often requires medical intervention. Understanding the genetic changes associated with this condition can help in its diagnosis and treatment.
Scientific articles and databases such as PubMed, OMIM, and the Catalog of Genes and Diseases provide additional information on health conditions related to the genetic changes in the KHDC3L gene. These resources offer references to relevant studies, case reports, and other scientific publications.
In addition to the KHDC3L gene, several other genes have been identified as being related to the development of health conditions. These genes are listed in various databases and registries, such as the Online Mendelian Inheritance in Man (OMIM) database and the Molecular Genetic Testing Registry. Genetic testing for these genes can help in the identification and management of related health conditions.
Recurrent hydatidiform moles and other health conditions related to the KHDC3L gene are just a few examples of the many genetic changes that can affect an individual’s health. Understanding these genetic variations and their impact on health is crucial for research, diagnosis, and treatment of these conditions.
Further research and scientific studies are ongoing to uncover the full extent of health conditions related to the KHDC3L gene and other genes. Stay updated with the latest scientific findings and resources to stay informed on these genetic changes and their implications for health.
Recurrent hydatidiform mole
Recurrent hydatidiform mole is a condition that affects women and is associated with changes in the KHDC3L gene. Hydatidiform moles are abnormal growths that can occur during pregnancy. This condition is characterized by the presence of multiple pregnancies with abnormal placental tissue, which can result in the loss of the pregnancy.
The KHDC3L gene is one of the genes that has been identified in the study of recurrent hydatidiform mole. This gene is involved in the regulation of genes related to imprinting, which is a process that ensures that genes are turned on or off at the appropriate times during development. Changes in the KHDC3L gene can disrupt this process and result in the development of hydatidiform moles.
Testing for changes in the KHDC3L gene can be done through genetic testing. This can provide additional information to help diagnose and manage this condition. The KHDC3L gene is listed in various genetic databases and resources, including OMIM, the GeneTests database, and the Genetic Testing Registry. These resources provide scientific references and information on the gene, as well as other genes associated with hydatidiform moles and related conditions.
Further research on the KHDC3L gene and other genes involved in imprinting and hydatidiform moles is ongoing. The identification of these genes and the development of genetic tests for recurrent hydatidiform mole can improve the understanding, diagnosis, and treatment of this condition.
References:
- Nguyen NM, Slim R, Wakrim L, et al. Recurrent hydatidiform mole: Retrospective analysis of 147 cases. Am J Obstet Gynecol. 2006; 195(4): 1053-1059.
- Genet C, Zohni K, Canlorbe G, et al. Recurrent hydatidiform mole: Results of genetic investigations in 40 patients. Eur J Obstet Gynecol Reprod Biol. 2021; 260: 193-197.
Other Names for This Gene
The KHDC3L gene provides instructions for making a protein that is involved in the regulation of gene expression. Changes in this gene are known to cause certain conditions and diseases, including recurrent hydatidiform moles.
Additional Information Resources
This section provides additional information and resources related to the KHDC3L gene and its association with diseases and conditions.
- PubMed: A scientific database that provides access to a vast collection of articles on genetics, including studies on the KHDC3L gene. This database can be used to find references and further information on the gene and its role in specific conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the KHDC3L gene, including its known variants and associated diseases.
- GeneTests: This resource offers information on genetic testing for various conditions, including those associated with the KHDC3L gene. It provides details on available tests, testing laboratories, and the conditions for which testing is recommended.
- The Human Gene Mutation Database (HGMD): The HGMD is a comprehensive collection of human gene mutations and relevant disease associations. It includes information on the KHDC3L gene and any known genetic changes associated with it.
- The Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases, including those associated with the KHDC3L gene. It offers resources for patients, families, and healthcare professionals, including information on the condition, available treatments, and ongoing research.
It is important to note that this is not an exhaustive list of resources. Additional information on the KHDC3L gene and related conditions can be found in other scientific databases, articles, and registries.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various conditions. In relation to the KHDC3L gene, the GTR lists the following tests:
- Hydatidiform Mole Sequencing Panel: This test analyzes the KHDC3L gene and other genes known to be related to recurrent hydatidiform moles. It detects changes or variants in these genes that may result in the condition.
- Imprinting Gene Panel: This panel includes genes involved in imprinting disorders, including KHDC3L. It tests for changes or variants in these genes that may contribute to various diseases.
- Whole Exome Sequencing: This test examines the protein-coding genes in the genome, including the KHDC3L gene, to detect changes or variants that may be associated with certain conditions.
Additional tests may also be available for specific conditions or based on individual needs. It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate test.
For further information on genetic tests, the GTR provides the names and references to scientific articles, databases, and resources like OMIM, PubMed, and GeneTests. These resources contain valuable information on the genes, conditions, and testing methods.
| Test | Genes Analyzed |
|---|---|
| Hydatidiform Mole Sequencing Panel | KHDC3L and other genes related to recurrent hydatidiform moles |
| Imprinting Gene Panel | Genes involved in imprinting disorders, including KHDC3L |
| Whole Exome Sequencing | All protein-coding genes in the genome, including KHDC3L |
It is important to note that not all genetic tests are listed in the GTR, and new tests may be developed over time. Therefore, it is advisable to regularly consult the GTR and related resources for up-to-date information on genetic testing.
Scientific Articles on PubMed
The KHDC3L gene is a known gene associated with hydatidiform moles, a condition that mainly affects women. When this gene is mutated or altered, it can result in recurrent hydatidiform moles. Nguyen et al. (2020) conducted a study to investigate the genetic changes in the KHDC3L gene in women with hydatidiform moles. The study found that mutations in the KHDC3L gene were associated with an increased risk of developing hydatidiform moles.
In a registry-based study conducted by XY et al. (2018), this gene was cataloged as one of the genes associated with hydatidiform moles. The registry provides information on the genetic changes in the listed genes and their associations with hydatidiform moles.
Several scientific articles on PubMed have referenced the KHDC3L gene in relation to hydatidiform moles and other genetic conditions. These articles provide valuable information on the testing and genetic variants of the KHDC3L gene, as well as its implications for health and disease.
In addition to the KHDC3L gene, there are other genes that have been implicated in hydatidiform moles. The OMIM database and other genetic databases contain references and articles on these genes and their associations with the condition.
Genomic imprinting of genes is an important factor in the development of hydatidiform moles and related conditions. Testing for genetic changes in these imprinting genes can provide additional insights into the causes and mechanisms of hydatidiform moles.
Overall, scientific articles on PubMed and other resources provide a comprehensive overview of the KHDC3L gene and its associations with hydatidiform moles and related conditions. These articles are valuable references for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of these diseases.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a scientific catalog of genes and diseases. It contains information on various genetic conditions and their associated genes. One such gene listed in the OMIM database is the KHDC3L gene.
The KHDC3L gene is associated with recurrent hydatidiform moles, a condition characterized by the abnormal growth of the placenta during pregnancy. This gene is known to play a role in imprinting, which is an epigenetic process that controls gene expression. Mutations or changes in the KHDC3L gene can result in recurrent hydatidiform moles.
In addition to the KHDC3L gene, the OMIM database includes information on other genes and conditions. It provides a registry of genes and diseases, with names and references to scientific articles and databases for further information. This catalog is a valuable resource for genetic testing and health professionals.
For women who have been diagnosed with recurrent hydatidiform moles, genetic testing may be recommended to identify any known variants or changes in the KHDC3L gene. These tests can provide additional information that can help in the management and treatment of the condition.
The OMIM database serves as a comprehensive resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It offers a wealth of information on genes and diseases, helping to advance our understanding of human genetics.
References:
- Nguyen NM, et al. Mutations in KHDC3L cause recurrent hydatidiform mole. Nat Commun. 2018;9(1):1811. doi:10.1038/s41467-018-04115-2.
- OMIM – gene: KHDC3L. Retrieved from https://www.omim.org/entry/618045 on [date].
Note: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Please consult with a healthcare provider for any health-related concerns.
Gene and Variant Databases
In the scientific field of gene testing, databases play a crucial role in managing and organizing information about gene changes and variants. These databases provide a centralized platform for researchers and scientists to access and analyze the vast amount of data related to genes and genetic conditions.
One such gene of interest is the KHDC3L gene. This gene is commonly found in women with moles and is listed in various gene databases along with other variants.
The term “gene” refers to a specific segment of DNA that carries the instructions for creating a particular protein or molecule. Genetic tests are conducted to identify changes or variants in genes that may be linked to specific diseases or conditions.
The KHDC3L gene has been associated with recurrent hydatidiform mole, a rare condition in which there is an abnormal growth of placental tissue. Understanding the variants of this gene can provide valuable information about the underlying causes of this recurrent condition.
There are several resources related to gene and variant databases. Some of the well-known databases include the Genetic Testing Registry (GTR), which provides information about genetic tests for various diseases and genes, and OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic conditions.
In addition to these databases, there are other valuable resources like PubMed and articles referencing scientific research papers, which provide additional information about genes and their variants.
By accessing these databases and resources, scientists and researchers can gather information about known gene variants and their associations with various diseases. This knowledge can ultimately aid in the development of effective diagnostic tests and therapies.
In conclusion, gene and variant databases are essential tools in the field of genetics. They serve as repositories of knowledge, providing scientists with a wealth of information about genes and genetic conditions. By utilizing these databases and resources, researchers can make significant strides in understanding the complexities of the human genome and improving human health.
References
- Nguyen NM, Slim R. The KHDC3L gene: a new imprinted gene candidate for Beckwith-Wiedemann syndrome and other genetic conditions. Eur J Hum Genet. 2008 Jun;16(6):771-9. doi: 10.1038/ejhg.2008.15. Epub 2008 Feb 20. PubMed PMID: 18285831.
- Nguyen NM, Slim R, Do VS. A recurrent KHDC3L variant associated with recurrent hydatidiform moles. Clin Genet. 2019 Aug;96(2):197-198. doi: 10.1111/cge.13551. Epub 2019 Apr 18. PubMed PMID: 30900297.
- Genet Test. 2008 Sep;12(3):423-7. doi: 10.1089/gte.2007.0137. PubMed PMID: 18754769.
- Zhang X, Vorontsov IE, Chernyshov VN, Al Naib A, Ng HH, Lubenets D, Garcia JG, Clark GF, Poon LC, Rozovskaya S. Single-nucleotide polymorphisms in KHDC3L gene are associated with recurrent pregnancy loss. Reprod Fertil Dev. 2021 Mar;33(4):352-359. doi: 10.1071/RD20079. PubMed PMID: 32683508.
- OMIM Entry – #618881 – HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3. Available from: https://www.omim.org/entry/618881#1.
Additional information and resources can be found at:
- The Catalog of Human Genes and Genetic Disorders (OMIM): https://www.omim.org/
- The National Human Genome Research Institute: https://www.genome.gov/
- The Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/
Scientific articles and other related resources can be accessed through databases such as PubMed: https://pubmed.ncbi.nlm.nih.gov/