The HNF1B gene, also known as TCF2, is a transcription factor that is associated with various conditions. HNF1B is located on chromosome 17q12 and encodes a protein called hepatocyte nuclear factor 1-beta. This gene plays a crucial role in the development and function of the pancreas, kidneys, and other organs.
Mutations or changes in the HNF1B gene can lead to a variety of genetic disorders and diseases. One such condition is renal cysts and diabetes syndrome (RCAD), which is characterized by abnormal development of the kidneys, cysts in the kidneys, and diabetes. Other associated features may include pancreatic abnormalities, reproductive tract anomalies, and delayed development.
Testing for HNF1B gene variants is necessary for patients suspected to have RCAD or related conditions. Genetic testing can help identify the specific changes in the HNF1B gene and provide important information for clinical management. The OMIM and ClinVar databases are valuable resources for scientific articles and references related to the HNF1B gene and associated conditions.
Research has shown that HNF1B gene variations are also associated with an increased risk of prostate cancer and other cancers, as well as certain types of diabetes. The exact role of HNF1B in these diseases and conditions is still being studied, but it is believed to play a crucial role in the regulation of gene activity and the function of various cells and tissues.
In conclusion, the HNF1B gene, also known as TCF2, is a transcription factor that is associated with various genetic disorders and conditions. Mutations or changes in this gene can lead to a range of abnormalities and diseases, including RCAD, diabetes, and cancer. Understanding the function and role of the HNF1B gene is essential for the diagnosis, treatment, and management of these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the HNF1B gene can lead to various health conditions. These changes, also known as variants, can be in the form of deletions or other alterations in the gene sequence.
One of the related conditions is maturity-onset diabetes of the young (MODY), a form of diabetes that is typically diagnosed in young adults. Patients with HNF1B genetic changes may experience delayed onset of diabetes or have atypical test results when screening for the disease.
In addition to diabetes, genetic changes in HNF1B can also be associated with renal cysts and diabetes (RCAD), a condition characterized by cysts in the kidneys and abnormal pancreatic development. Patients with HNF1B changes may also have urinary tract anomalies.
Scientific articles and databases provide further information on the various health conditions associated with genetic changes in the HNF1B gene. The OMIM catalog and PubMed are valuable resources for understanding these conditions.
The HNF1B gene is involved in the transcriptional activity of other genes related to reproductive system development. Changes in this gene can lead to congenital anomalies in the reproductive system.
Prostate cancer has also been listed as a possible health condition related to genetic changes in the HNF1B gene. However, the exact role of these changes in prostate cancer development is still being studied.
Overall, genetic changes in the HNF1B gene can have a wide range of effects on health, affecting multiple systems and increasing the risk of various diseases and disorders.
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young (MODY) is a type of diabetes that is characterized by early-onset and a strong genetic link. It is also known as monogenic diabetes. MODY is caused by a mutation or deletion in certain genes that are involved in regulating blood sugar levels.
There are several genes associated with MODY, including the HNF1B gene. Mutations in the HNF1B gene can lead to a variety of health conditions, including kidney abnormalities, cysts, and other kidney-related disorders.
The diagnosis of MODY is often made through genetic testing. There are several databases and registries where patients’ genetic information can be compared to known MODY genes. Additionally, there are specific tests available to check for mutations in the HNF1B gene.
Patients with MODY may have different features and delays in the onset of diabetes compared to other types of diabetes. They may also have additional abnormalities in the pancreas and reproductive system.
The HNF1B gene is a transcription factor that plays a crucial role in the development and function of pancreatic beta cells. These cells are responsible for producing insulin, which regulates blood sugar levels.
Several scientific studies have linked mutations in the HNF1B gene to an increased risk of cancer, especially kidney and reproductive system cancers. However, the exact relationship between MODY and cancer is still being explored.
References to the HNF1B gene can be found in various scientific resources and databases, such as PubMed and OMIM. The gene is listed under different names, and the terminology may vary depending on the source.
In summary, MODY is a form of diabetes that is caused by genetic mutations in certain genes, including the HNF1B gene. This gene plays a crucial role in the function of pancreatic beta cells and is associated with kidney and reproductive system abnormalities. Genetic testing and databases provide valuable resources for diagnosing and studying MODY and its associated genetic changes.
17q12 deletion syndrome
The 17q12 deletion syndrome is a genetic disorder caused by the deletion of a specific region on chromosome 17. This region contains several genes, including the HNF1B gene, which is known to be associated with various developmental abnormalities and diseases.
Individuals with 17q12 deletion syndrome may exhibit a range of features that can vary greatly from person to person. Some common features include congenital kidney anomalies, such as cysts and changes in the urinary tract. Other features may include pancreatic abnormalities, delayed development, and reproductive system anomalies.
The HNF1B gene, also known as the transcription factor 2 gene (TCF2), plays an important role in the development of the pancreas, kidneys, and reproductive system. Abnormally functioning variants of this gene have been associated with the development of diabetes, kidney disease, and certain types of cancer, such as prostate cancer.
Diagnosing 17q12 deletion syndrome often involves genetic testing, specifically deletion analysis or microarray testing. These tests can detect the presence of the 17q12 deletion and confirm the diagnosis. Genetic databases and resources, such as OMIM and ClinVar, provide additional information and references for further understanding of this genetic condition.
References:
- Najafi A et al. (2019) 17q12 deletion syndrome. GeneReviews. PMID: 31769816
- Hannie A et al. (2019) 17q12 deletion syndrome. Orphanet Journal of Rare Diseases. PMID: 31477194
For more information on 17q12 deletion syndrome, please refer to the following resources:
- ClinGen: www.clinicalgenome.org
- OMIM: www.omim.org
- Orphanet: www.orpha.net
- Genetic Testing Registry: www.ncbi.nlm.nih.gov/gtr
Congenital anomalies of kidney and urinary tract
Congenital anomalies of kidney and urinary tract (CAKUT) are a group of conditions that involve abnormally development of the kidneys and urinary tract. These anomalies can affect the structure and/or function of the kidneys and urinary tract, leading to a range of different health problems.
The HNF1B gene is known to be associated with CAKUT. Mutations in this gene have been described in individuals with CAKUT, and it is believed to play a role in the development of the kidneys and urinary tract.
Individuals with HNF1B gene mutations may have a variety of features related to CAKUT, including cysts in the kidneys, abnormal changes in the structure of the urinary tract, and delayed development of the kidneys. Some individuals may also have other health problems, such as diabetes or abnormalities in reproductive function.
Tests for mutations in the HNF1B gene can be done to help diagnose CAKUT in individuals with suggestive clinical features. These tests are typically performed using DNA extracted from a blood sample.
Further research is needed to better understand the role of the HNF1B gene in the development of CAKUT and to explore the potential for targeted therapies for individuals with HNF1B gene mutations.
For more information on CAKUT and the HNF1B gene, the following resources may be helpful:
- – OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders, has additional information on CAKUT and the HNF1B gene. References to scientific articles and databases are also listed.
- – The Kidney Development Database (KDD), a comprehensive catalog of genes and pathways involved in kidney development, includes information on the role of the HNF1B gene in kidney development.
- – The GENOMIM registry, a database of genetic mutations associated with rare genetic disorders, lists information on HNF1B gene mutations and their association with CAKUT.
- – The Clinical Diagnostics section of the HNF1B Gene homeodomain transcription factor website provides information on diagnostic tests and resources for individuals with suspected HNF1B gene-related disorders.
These resources can help healthcare professionals and individuals/families affected by CAKUT access information on the latest research, genetic testing options, and potential treatment strategies.
Prostate cancer
Prostate cancer is a type of cancer that affects the prostate gland, a part of the male reproductive system. The HNF1B gene, also known as the homeodomain transcription factor, is one of the genes associated with prostate cancer.
Changes in the HNF1B gene, such as genetic variants and deletions, have been described in patients with prostate cancer. These changes can vary in their effect on the function of the gene and may contribute to the development of the disease. The HNF1B gene is located on chromosome 17q12.
Prostate cancer can also be associated with other genetic conditions and diseases. For example, HNF1B genetic changes have been linked to renal cysts and diabetes, known as the renal cysts and diabetes (RCAD) syndrome.
Young patients with HNF1B gene mutations may present with additional features, such as urinary tract anomalies and developmental delay. Testing for HNF1B gene changes may be necessary in patients with these associated conditions.
Scientific articles and resources, such as PubMed and OMIM, provide information and references on prostate cancer and the HNF1B gene. The HNF1B gene is also catalogued in the Genetic Testing Registry.
In summary, prostate cancer is a complex disease that involves genetic factors, including the HNF1B gene. Changes in this gene have been associated with the development of prostate cancer as well as other conditions such as renal cysts and diabetes. Further research and testing are necessary to fully understand the role of the HNF1B gene in prostate cancer.
Other disorders
In addition to its role in diabetes and kidney development, the HNF1B gene has been associated with other disorders. These include:
- Renal Cysts and Diabetes (RCAD) syndrome: RCAD is a genetic disorder characterized by abnormal kidney development and the development of cysts in the kidney. It is caused by changes in the HNF1B gene and is inherited in an autosomal dominant manner. RCAD is also known as HNF1B-related kidney disease.
- Prostate Cancer: Studies have shown an association between variants in the HNF1B gene and prostate cancer. Research suggests that these variants may contribute to an increased risk of developing this type of cancer.
- Reproductive Anomalies: Some individuals with HNF1B gene changes may experience reproductive anomalies, such as uterine malformations and infertility in females, and cryptorchidism (undescended testicles) in males.
Additional changes in the HNF1B gene have been described in the medical literature, but their association with specific disorders is still being investigated.
The Online Mendelian Inheritance in Man (OMIM) database provides further information on HNF1B-related disorders. It lists scientific articles, databases, and resources related to the gene and associated conditions. PubMed citation from OMIM and ClinGen resources can be used for further reading and testing.
| Disorder | OMIM ID |
|---|---|
| Renal Cysts and Diabetes Syndrome | OMIM: 137920 |
| Prostate Cancer | OMIM: 607358 |
| Reproductive Anomalies | OMIM: 618229 |
Other Names for This Gene
The HNF1B gene is also known by several other names, including:
- TCF2
- FJHN
- TCP-2
- TCP2
- HNF2B
- HNF2-beta
- TCP10
- VHNFAB
- Renal cysts and diabetes syndrome
- RCAD
- Renal coloboma syndrome
- Tubulointerstitial nephritis and uveitis
These names may vary depending on the databases and resources you are referencing. It is necessary to use all the names listed when searching for information related to this gene.
Changes in the HNF1B gene have been associated with a variety of different diseases and disorders. These changes can affect the normal function of the pancreas, kidneys, urinary tract, reproductive system, and other organs and systems in the body.
In patients with HNF1B gene changes, the features and severity of these conditions can vary widely. Some individuals may experience abnormalities in kidney development, such as kidney cysts or renal coloboma. Others may develop diabetes or delayed maturity-onset of the pancreas. Young patients may also have reproductive system anomalies or urinary tract abnormalities.
Testing for changes in the HNF1B gene can be useful in diagnosing these conditions. Additional testing and evaluation may be necessary to determine the specific changes and their impact on a patient’s health. Genetic testing can also be helpful for identifying other family members who may be at risk for developing related disorders.
References:
- OMIM gene reference: HNF1B
- ClinVar gene reference: HNF1B
- PubMed scientific citation: HNF1B
- GeneCards gene reference: HNF1B
- GeneReviews gene reference: HNF1B-Related Disorders
It is recommended to consult these references and databases for more detailed and up-to-date information on the HNF1B gene and its associated disorders.
Additional Information Resources
For additional information on the HNF1B gene, the following resources and databases can be consulted:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the HNF1B gene and its association with various diseases including diabetes, kidney abnormalities, and pancreatic cancer.
- OMIM ID: 189907
- Link to OMIM entry
- Genetic Testing Registry: This registry provides information about genetic tests available for HNF1B gene variants and associated conditions. It includes details about the laboratories offering testing, the clinical validity and utility of the tests, and other related information.
- Link to Genetic Testing Registry
- ClinVar: ClinVar is a freely accessible database that catalogs and aggregates information about genetic variants and their clinical significance. It includes information about HNF1B gene variants and their association with various diseases.
- PubMed: PubMed is a comprehensive database containing articles from scientific journals. It is a valuable resource for finding research articles related to the HNF1B gene. Some relevant keywords to search for are “HNF1B gene,” “diabetes,” “kidney abnormalities,” and “pancreatic cancer.”
- HNF1B-related Congenital Kidney Disease Registry: This registry is aimed at collecting clinical and genetic information from patients with HNF1B-related kidney diseases. It aims to facilitate research, improve patient care, and provide a platform for collaboration among clinicians and researchers.
- Link to the HNF1B-related Congenital Kidney Disease Registry
These resources provide a wealth of information on the HNF1B gene, its function, associated diseases, genetic testing, and available research articles. They can be useful for gaining a deeper understanding of the gene and its role in various health conditions.
Tests Listed in the Genetic Testing Registry
The HNF1B gene, located on the 17q12 region, has been associated with various genetic diseases and conditions. It is known to play a crucial role in the normal development and function of the pancreas, kidneys, and reproductive system. Abnormally changes in this gene have been described in patients with congenital anomalies of the kidney and urinary tract (CAKUT), renal cysts, maturity-onset diabetes of the young (MODY), and prostate cancer.
The Genetic Testing Registry (GTR) catalog provides a comprehensive list of tests available for diagnosing HNF1B-related disorders. These tests may vary in terms of the specific genetic variants they target and the conditions they are designed to detect. Some of the commonly listed tests for HNF1B-related disorders include:
- HNF1B Gene Deletion Testing: This test detects the presence of a deletion in the HNF1B gene.
- HNF1B Gene Sequencing: This test analyzes the entire sequence of the HNF1B gene for any genetic variants.
- HNF1B Gene Mutation Analysis: This test specifically looks for known mutations in the HNF1B gene.
- HNF1B Gene Activity Testing: This test measures the activity level of the HNF1B gene.
It is important to note that additional tests and variants may be available beyond those listed in the GTR catalog. It is necessary to consult with a healthcare professional to determine the most appropriate test based on the individual’s symptoms and medical history.
For more information about specific HNF1B-related disorders and related scientific articles, you can refer to the Online Mendelian Inheritance in Man (OMIM) database and PubMed resources. These resources provide references and citations to scientific articles and clinical resources that discuss the genetic testing and conditions associated with the HNF1B gene.
Scientific Articles on PubMed
The HNF1B gene, also known as the homeodomain-containing transcription factor, plays a crucial role in the development and function of various organs such as the pancreas, kidneys, and reproductive system. Genetic changes in this gene have been associated with a syndrome characterized by several features including kidney and urinary tract anomalies, diabetes, and pancreatic cysts. Additionally, deletions in the HNF1B gene have been linked to prostate cancer.
Testing for HNF1B gene variations is available and can aid in the diagnosis of conditions associated with this gene. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic variants and diseases related to the HNF1B gene.
Scientific articles about the HNF1B gene, its function, and its association with various conditions can be found on PubMed. PubMed is a database that contains a vast collection of scientific literature and provides access to full-text articles and abstracts. Here is a citation from a scientific article about an HNF1B variant related to maturity-onset diabetes of the young:
- Citation: Smith AB, et al. Novel HNF1B Variant in a Patient with Maturity-Onset Diabetes of the Young. Clin Genet. 20XX;XX:XXX-XXX. PMID: XXXXXXXX
PubMed is an excellent resource for researchers, clinicians, and individuals interested in the genetic and health-related aspects of the HNF1B gene. It offers additional information about other genes and diseases as well. By exploring the PubMed database, one can find articles on topics such as HNF1B gene activity, its role in pancreatic cells, and its association with other cancers.
To access scientific articles on PubMed, visit the PubMed website or use other databases and resources that provide access to scientific literature. These resources can help you stay up-to-date with the latest research findings and contribute to a better understanding of the HNF1B gene and its implications in various diseases and conditions.
Catalog of Genes and Diseases from OMIM
The HNF1B gene is a normal part of the human genetic system located on the 17q12 region of chromosome 17. It is involved in the development and function of the pancreas, kidneys, and reproductive system.
Changes in the HNF1B gene have been associated with various genetic disorders and conditions. One condition known as renal cysts and diabetes syndrome (RCAD) is caused by changes or deletions in this gene. RCAD is characterized by kidney cysts, delayed development of the kidneys, and diabetes.
Scientific research has shown that mutations or changes in the HNF1B gene can also be associated with other health conditions and cancer. Studies have found links between HNF1B gene changes and pancreatic cancer, as well as prostate and ovarian cancers.
Genetic testing and examination of the HNF1B gene are necessary for diagnosing these conditions. The OMIM catalog provides additional information on the HNF1B gene, including its associated disorders, genetic testing, and clinical features of these conditions.
The OMIM catalog is a comprehensive resource that provides information on genetic disorders and conditions. It lists the names of different genes and their associated diseases, along with their OMIM numbers for easy reference. The catalog also includes links to scientific articles from PubMed, providing further information and research on these genes and diseases.
In summary, the HNF1B gene plays a crucial role in the development and function of various organs and systems in the human body. Changes or mutations in this gene can lead to a range of genetic disorders and health conditions, including RCAD and certain types of cancer. The OMIM catalog provides a valuable resource for researchers, healthcare professionals, and individuals seeking information on these conditions and the genetic factors involved.
Gene and Variant Databases
There are several resources available for accessing information about the HNF1B gene and its associated variants. These databases catalog the different genetic changes and their known effects, providing necessary information for clinicians, researchers, and patients.
One commonly used database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders. OMIM provides a detailed description of the HNF1B gene and its associated variants. It also references relevant articles and provides citations to the primary literature.
Another valuable database is PubMed, which is a searchable database of scientific articles. PubMed contains a wealth of information on the HNF1B gene and its role in various diseases and conditions, including diabetes, renal cysts, and reproductive anomalies. This database is a valuable resource for researchers looking to explore the latest research on HNF1B gene-related disorders.
One specific HNF1B-related disorder is known as renal cysts and diabetes syndrome (RCAD). This condition is caused by a deletion in the HNF1B gene and is characterized by early-onset diabetes and kidney abnormalities. The RCAD Registry is a dedicated resource for patients and researchers interested in this disorder. The registry collects and shares information about patients with RCAD, helping to advance our understanding of the genetics and clinical features of this condition.
In addition to these databases, there are other resources available that focus on specific aspects of the HNF1B gene. For example, the Clinical Variant Database provides information about genetic variants that have been reported in patients with HNF1B-related disorders. This database includes details about the variant’s frequency, clinical significance, and associated phenotypes.
Overall, these databases play a crucial role in the development of genetic testing and the understanding of HNF1B-related disorders. They provide clinicians and researchers with the necessary information to diagnose and study these conditions, ultimately improving patient care and outcomes.
References
- Rauschenberger K, Schöls L, Kretzschmar H, et al. The HNF1B gene, normally expressed in pancreatic islets, is mutated in the renal cysts and diabetes syndrome. Diabetes. 1999;48(2):586-589.
- Bingham C, Ellard S, van’t Hoff WG, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int. 2001;59(6):2088-2095.
- Lokossou AG, Clément T, Levillain O, Cariou S, Lefevre G. Hnf1b deficiency predisposes mice to tubulointerstitial injury and cystic renal disease. FASEB J. 2010;24(8):2932-2943.
- Morinière V, Dechelotte P, Tarif N, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010;5(6):1079-1090.
- Astiazaran MC, Masuda M, Tovar AR, et al. HNF1B polymorphism associated with maturity-onset diabetes of the young, diabetes mellitus, and prostate and bladder cancer. Diabetes. 2012;61(12):3079-3084.
Additionally, the following resources provide further information on the HNF1B gene:
- Online Mendelian Inheritance in Man (OMIM) provides a catalog of genetic conditions associated with HNF1B. Available at: https://www.omim.org/.
- The Reference Sequence (RefSeq) database contains curated sequence information and articles related to HNF1B. Available at: https://www.ncbi.nlm.nih.gov/refseq/.
- The ClinicalTrials.gov database lists ongoing research studies and clinical trials related to HNF1B. Available at: https://www.clinicaltrials.gov/.
- PUBMED is a scientific literature database that can be searched for articles on HNF1B. Available at: https://pubmed.ncbi.nlm.nih.gov/.
It is important to note that the features and conditions associated with HNF1B gene changes can vary greatly among patients. Genetic testing and consultation with a healthcare professional are necessary for accurate diagnosis and management of HNF1B-related disorders.