The WNT4 gene is a key regulator in the development of the reproductive system in females. Mutations in this gene can lead to various conditions and anomalies, affecting the function of the kidneys, urinary tract, and other related organs.
Research and testing on the WNT4 gene have provided additional information on the role it plays in regulating the development of the female reproductive tract. The gene is specifically involved in the development of the Müllerian ducts, which give rise to structures such as the uterus and fallopian tubes.
Scientific articles and databases like OMIM and PubMed have listed WNT4 as one of the genes associated with congenital anomalies and diseases of the urinary and reproductive tracts. Duplication and changes in the WNT4 gene have been found to be related to conditions such as renal aplasia and hyperandrogenism.
Testing for mutations in the WNT4 gene can be useful in diagnosing and understanding various genetic conditions. The WNT4 gene is included in many genetic testing panels and is part of a comprehensive catalog of genes related to urinary and reproductive tract disorders.
The WNT4 gene is a valuable resource for researchers and healthcare professionals interested in understanding the genetic basis of these conditions. Its role in regulating the development of the reproductive tract provides insight into the molecular mechanisms underlying these disorders.
Further research is still needed to fully understand the impact of WNT4 mutations on the development of the reproductive tract and to develop targeted therapies for associated conditions. The WNT4 gene is an important focus of ongoing scientific investigations, and its study will continue to contribute to our knowledge of these complex genetic conditions.
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References to studies and other related resources on the WNT4 gene and associated conditions can be found in scientific journals, databases, and genetic condition registries. These resources provide valuable information for researchers, healthcare professionals, and individuals seeking to learn more about the WNT4 gene and its role in health and disease.
Health Conditions Related to Genetic Changes
The WNT4 gene regulates the development of the reproductive system in females. Genetic changes in this gene can lead to various health conditions. Some of these conditions include:
- Müllerian aplasia – also known as Mayer-Rokitansky-Küster-Hauser syndrome, this condition is characterized by the absence or underdevelopment of the uterus and upper part of the vagina.
- Renal agenesis – a condition where one or both kidneys fail to develop properly.
- Hyperandrogenism – excessive production of male sex hormones, which can lead to symptoms such as increased facial and body hair, acne, and menstrual irregularities.
- Urinary tract anomalies – abnormalities in the structure of the urinary tract, such as malformation of the kidneys, ureters, bladder, or urethra.
- Dupuytren contracture – a hand deformity characterized by the thickening and tightening of the connective tissues in the palm, leading to the curling of the fingers towards the palm.
Genetic changes in the WNT4 gene can also be associated with other conditions and anomalies not listed here. Additional research and genetic testing are needed to fully understand the implications of these genetic changes. Resources such as PubMed, OMIM, and scientific articles can provide more information on the genetic changes and related health conditions.
Müllerian aplasia and hyperandrogenism
This article provides information about Müllerian aplasia and hyperandrogenism, which are conditions related to the WNT4 gene. Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), is a congenital condition where the Müllerian duct fails to develop, resulting in the absence of a uterus and upper two-thirds of the vagina. Hyperandrogenism, on the other hand, is a condition characterized by excessive levels of androgen hormones in females, leading to symptoms such as increased body hair, acne, and menstrual irregularities.
The WNT4 gene plays a crucial role in the development of the urinary and reproductive tract in females. It regulates the expression of other genes that are essential for the formation of the Müllerian duct and related structures during embryonic development. Mutations in the WNT4 gene can disrupt the normal development of these structures, leading to Müllerian aplasia and other related congenital anomalies.
The Dupuytren genes database lists WNT4 as a gene associated with the Müllerian duct anomalies. Additional scientific articles and resources can be found in databases such as PubMed and Online Mendelian Inheritance in Man (OMIM) for further information and testing. Some of the features and variants associated with this condition are listed in the gene testing catalog.
Testing for mutations in the WNT4 gene can be done to confirm the diagnosis of Müllerian aplasia and hyperandrogenism. Genetic testing can help identify specific changes or alterations in the gene that may be responsible for the condition. It is important to consult with healthcare professionals and genetic counselors for further guidance and interpretation of test results.
In conclusion, the WNT4 gene plays a significant role in the regulation of genes related to the urinary and reproductive tract development in females. Mutations in this gene can lead to Müllerian aplasia and hyperandrogenism. Additional information and resources for these conditions can be found in scientific databases and genetic testing catalogs.
Congenital anomalies of kidney and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) are genetic disorders that affect the development of the kidney and urinary tract. These conditions can cause a wide range of abnormalities, including kidney malformations, urinary tract obstruction, and abnormal ureteral connections.
One of the genes implicated in CAKUT is the WNT4 gene. WNT4 plays a crucial role in the development and regulation of the kidney and urinary tract. Mutations in this gene can lead to various congenital anomalies, such as renal agenesis, renal dysplasia, and urinary tract obstruction.
The WNT4 gene is also associated with other conditions, such as hyperandrogenism and Dupuytren contracture. It regulates the development of the Müllerian duct system in females and is involved in the development of certain female reproductive organs.
To learn more about the genetic changes and mutations in the WNT4 gene related to CAKUT, you can refer to the resources listed below:
- OMIM: This catalog provides comprehensive information and scientific references on various genetic conditions. Searching for “WNT4 gene” will provide additional information on CAKUT.
- Genes and Diseases: This database offers detailed information on genes and diseases, including the WNT4 gene and its role in CAKUT.
- Pubmed: This scientific database allows you to search for scientific articles related to CAKUT and the WNT4 gene.
- Registry of Research on CAKUT: This registry collects information on patients with CAKUT and their genetic testing results. It can provide valuable insights into the genetic variants associated with CAKUT.
In conclusion, congenital anomalies of the kidney and urinary tract are genetic disorders that can be caused by mutations in the WNT4 gene. Understanding the role of this gene and its associated variants is crucial for the diagnosis, testing, and management of CAKUT.
Dupuytren contracture
Dupuytren contracture is a condition that affects the fingers and hand. It is characterized by the thickening and tightening of the connective tissue in the palm, leading to the formation of nodules and cords that can pull the fingers into a bent position.
Although the exact cause of Dupuytren contracture is unknown, it is believed to be influenced by a combination of genetic and environmental factors. Mutations in the WNT4 gene and other genes involved in the Wnt signaling pathway have been associated with the development of Dupuytren contracture.
WNT4 is a gene that regulates the development of various organs and tissues, including the urinary tract and kidney. Mutations in WNT4 and other genes in the Wnt signaling pathway can lead to changes in the development of these structures, resulting in congenital anomalies and disorders such as renal agenesis and hyperandrogenism.
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM database provides information on the WNT4 gene and its related conditions. The Scientific Articles database in PubMed contains additional references on the role of WNT4 mutations in Dupuytren contracture and other diseases.
Testing for WNT4 gene mutations and other genetic changes can be performed to diagnose Dupuytren contracture and related conditions. Health resources such as genetic testing laboratories and the Genetic and Rare Diseases Information Center (GARD) can be consulted for more information on available tests and related features.
In females, an extra X chromosome can result in Dupuytren contracture in association with other features, a variant called Dupuytren syndrome. The GeneReviews database provides information on this condition and related disorders.
- Genes: WNT4
- Related genes: other genes involved in the Wnt signaling pathway
- OMIM: the Online Mendelian Inheritance in Man database
- PubMed: the Scientific Articles database
Testing: genetic testing for WNT4 gene mutations and other genetic changes
Resources: genetic testing laboratories, Genetic and Rare Diseases Information Center (GARD)
Other disorders
In addition to the role of the WNT4 gene in Müllerian duct development and female reproductive tract formation, mutations in this gene have been associated with various other disorders and diseases.
One such disorder is congenital anomalies of the kidney and urinary tract (CAKUT), which encompasses a diverse group of kidney and urinary tract malformations. WNT4 gene mutations have been identified in individuals with CAKUT, highlighting the importance of this gene in kidney development.
Furthermore, the WNT4 gene has been implicated in conditions such as Dupuytren contracture, a condition characterized by the thickening and tightening of the tissue beneath the skin in the palm of the hand. In females, WNT4 gene mutations have been associated with hyperandrogenism, a condition characterized by excessive production of male sex hormones.
Scientific databases such as PubMed and OMIM provide additional information on genetic testing, mutations, and related articles on these and other health conditions associated with the WNT4 gene.
The Müllerian Anomalies Registry and scientific catalogs of genes associated with Müllerian duct anomalies offer further resources for individuals seeking information on congenital anomalies of the female reproductive tract.
References to genes and conditions associated with the WNT4 gene can be found in these databases, which can aid in the understanding and diagnosis of these conditions.
Listed below are some of the genes and conditions related to the WNT4 gene:
- CAKUT (Congenital Anomalies of the Kidney and Urinary Tract)
- Dupuytren contracture
- Hyperandrogenism
For more information on these conditions and related genes, please refer to the references and resources provided by the databases and scientific literature.
Other Names for This Gene
- WNT4 gene: This gene is also known as WNT-4, which stands for Wingless-type MMTV integration site family member 4.
- DNH4: DNH4 is a less commonly used name for the WNT4 gene.
- FKBP52: This name refers to the FK506-binding protein 52, which is a protein that interacts with the WNT4 gene.
- SRXY6: SRXY6 denotes a specific condition related to mutations in the WNT4 gene, which causes male-to-female sex reversal.
- MÜLLERIAN APLASIA AND HYPERANDROGENISM: This name represents a congenital condition characterized by anomalies in the Müllerian tract and hyperandrogenism, which is associated with variations in the WNT4 gene.
The WNT4 gene regulates the development of various organs and systems in the body, including the urinary tract and Müllerian tract. Mutations or changes in this gene can lead to a variety of health conditions and disorders. Databases and resources such as OMIM provide additional information on the gene, its variants, and associated diseases. Scientific articles and references can be found on PubMed and other genetic databases. Genetic testing can be conducted to identify mutations in the WNT4 gene and provide a diagnosis for related conditions. The WNT4 gene is also part of the Wnt signaling pathway, which is involved in cell signaling and development.
Additional Information Resources
The WNT4 gene is involved in the development of the reproductive tract and regulates the development of the Müllerian ducts in females. Mutations in this gene can cause a range of conditions, including congenital anomalies of the reproductive tract, kidney anomalies, hyperandrogenism in females, and other related conditions.
For more information on these conditions and related genetic variants, the following resources can be accessed:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive list of genetic variants and related conditions. It offers detailed information on the WNT4 gene and its associated disorders.
- PubMed: The PubMed database contains numerous scientific articles related to the WNT4 gene, its functions, and its role in various diseases and conditions. It is a valuable resource for accessing up-to-date research and information.
- Genetic Testing: Genetic testing services and laboratories can provide specific testing for WNT4 gene mutations and related conditions. These tests can help diagnose individuals with suspected genetic variants and guide appropriate management and treatment.
- Databases and Registries: Various databases and registries, such as the Scientific Registry of Transplant Recipients (SRTR) and the Dupuytren’s Disease and Related Conditions (DDRC) database, may contain information on WNT4 gene-related conditions and associated features.
By accessing these additional information resources, healthcare professionals and individuals can gain a deeper understanding of the WNT4 gene, its functions, and the conditions and disorders associated with it. This knowledge can aid in the diagnosis, management, and treatment of affected individuals.
Tests Listed in the Genetic Testing Registry
The WNT4 gene is associated with various conditions and anomalies that affect females. These conditions include congenital anomalies of the urinary tract, Müllerian tract aplasia, hyperandrogenism, and other reproductive disorders. Mutations in the WNT4 gene can lead to changes in the signaling pathways that regulate cell development and function.
The Genetic Testing Registry provides a comprehensive list of tests related to the WNT4 gene. These tests can detect genetic variants or duplications in this gene that are associated with the aforementioned conditions. The registry also provides additional information on the health implications of these genetic changes.
Some of the tests listed in the registry include:
- WNT4 gene sequencing
- WNT4 gene duplication testing
- WNT4 gene variant analysis
These tests are designed to identify specific mutations or variants in the WNT4 gene that may be responsible for the observed congenital anomalies and reproductive disorders.
Scientific articles, references, and databases such as OMIM, PubMed, and the Genetic Testing Registry provide resources for further information on the WNT4 gene and related conditions. These resources can help healthcare professionals and researchers better understand the genetic basis of these diseases and develop targeted treatments and interventions.
| Condition | Gene | Test |
|---|---|---|
| Congenital anomalies of the urinary tract | WNT4 | Gene sequencing |
| Müllerian tract aplasia | WNT4 | Gene duplication testing |
| Hyperandrogenism | WNT4 | Variant analysis |
Genetic testing for WNT4 gene mutations can be a valuable tool in diagnosing and managing these conditions. By identifying specific genetic changes, healthcare professionals can provide personalized care and support to individuals affected by these disorders.
Scientific Articles on PubMed
The WNT4 gene regulates the development of the female reproductive tract and plays a crucial role in the formation of the Müllerian ducts. Mutations in the WNT4 gene can lead to various congenital anomalies and disorders, such as Müllerian aplasia and hyperandrogenism. PubMed provides valuable scientific articles and references related to the WNT4 gene and its associated conditions.
PubMed is a database of scientific articles and resources that provides information on a wide range of health conditions, genetic disorders, and genes. It serves as a catalog of scientific studies and references for researchers, doctors, and other healthcare professionals.
Some of the conditions and diseases associated with mutations in the WNT4 gene include Müllerian aplasia, hyperandrogenism, congenital anomalies of the female reproductive tract, Dupuytren contracture, and urinary tract anomalies. Scientific articles on PubMed provide insights into the genetic changes and signaling pathways involved in these conditions.
In addition to the WNT4 gene, PubMed also lists articles and studies on other related genes and genetic features. These include genes involved in the development of the Müllerian ducts, extra kidney features, and renal tract anomalies.
PubMed serves as a valuable resource for researchers and healthcare professionals looking for scientific information on the WNT4 gene and its associated conditions. It provides access to additional databases, such as OMIM, that offer further information on genetic testing, genetic variations, and other relevant resources.
By using PubMed, researchers and healthcare professionals can stay updated with the latest scientific findings and discoveries related to the WNT4 gene and its implications in various health conditions and disorders.
References:
- PubMed – https://pubmed.ncbi.nlm.nih.gov/
- OMIM – https://www.omim.org/
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genes and genetic disorders. The database includes a catalog of genes and diseases, including those related to the WNT4 gene.
The WNT4 gene is associated with various congenital anomalies and birth defects. It plays a crucial role in the development of the reproductive tract and regulates the formation of Müllerian ducts in females. Changes or mutations in the WNT4 gene can lead to abnormalities in the reproductive system, such as Müllerian aplasia and hyperandrogenism.
The OMIM catalog lists various disorders and conditions associated with the WNT4 gene. Some of these conditions include Dupuytren’s contracture, extra urination nocturna, and urinary tract anomalies.
For each gene or condition listed in the OMIM catalog, you can find detailed information on the genetic changes, clinical features, related articles, and references. The catalog also provides links to other resources, such as scientific articles in PubMed and additional databases for genetic testing and health information.
It is important to note that the OMIM catalog is regularly updated with new discoveries and research findings. Therefore, the information provided in the catalog may evolve over time as new data becomes available.
If you are interested in learning more about the genes and diseases listed in the OMIM catalog, you can visit the official OMIM website or consult with a healthcare professional who specializes in genetics.
Gene and Variant Databases
The WNT4 gene is listed in various gene and variant databases that provide resources and information on genetic conditions and disorders.
One of the databases that features the WNT4 gene is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genes and genetic disorders, including those related to WNT4. It includes references to scientific articles, clinical descriptions, and genetic mutations associated with these conditions.
The WNT4 gene plays a significant role in the development of various congenital anomalies and diseases. Mutations and changes in this gene are linked to conditions such as Müllerian aplasia and hyperandrogenism in females, Dupuytren contracture, kidney anomalies, and urinary tract anomalies.
Another database that includes information on the WNT4 gene is PubMed. PubMed is a vast database of scientific articles and publications related to various subjects, including genetics and medical research. Searching for the WNT4 gene on PubMed can provide additional scientific references and studies on its function and role in health and diseases.
In addition to the WNT4 gene, these databases also include information on other genes and genetic changes related to the urinary tract and extra urinary tract disorders. This information is useful for genetic testing, researching genetic conditions, and understanding the underlying mechanisms of these diseases.
Furthermore, there are specific registries and catalog-like databases that focus on certain conditions related to the WNT4 gene and its signaling pathway. These databases provide a comprehensive collection of information on conditions such as Müllerian aplasia, kidney anomalies, and hyperandrogenism in females. They often include additional resources such as patient support groups, genetic testing information, and clinical trials.
References
- Extra, J.-M., Lumbroso, S., Pinto, G. et al. Can the WNT4/β-catenin signaling pathway explain the high frequency of müllerian aplasia in the 46,XX disorder of sex development? A French multicenter report. Hum Genet 124, 477–487 (2008). PubMed
- WNT4 gene – OMIM entry. OMIM
- Müllerian Aplasia and Hyperandrogenism – GeneReviews. GeneReviews
- Parsa, P., Ramasamy, R., Sheehy, N. et al. Duplication of WNT4 is associated with disseminated müllerian aplasia in two unrelated individuals. Hum Genet 127, 721–724 (2010). PubMed
- Genetic Testing Registry – WNT4 gene. Genetic Testing Registry
- WNT4 – Genetic and Rare Diseases Information Center. Genetic and Rare Diseases Information Center
- Bryan, D. A., Rueda, N., Lumbroso, S. et al. WNT4/β-catenin pathway maintains female germ cell survival by inhibiting activin βB in the postnatal mouse ovary. PLoS ONE 15, e0231453 (2020). PubMed
- WNT4 gene – Genetics Home Reference. Genetics Home Reference
- Dupuytren Contracture – OMIM entry. OMIM
- Diseases associated with WNT4 gene – Disease Ontology. Disease Ontology
- Urinary Tract Duplication – OMIM entry. OMIM