The H19 gene is an important gene involved in the regulation of various health conditions. It is classified as an imprinted gene, meaning that it is expressed from only one copy of the gene while the other copy is silenced. This process, known as genomic imprinting, is regulated by DNA methylation and other epigenetic mechanisms.

Studies have shown that the uncontrolled expression of the H19 gene is associated with a variety of syndromes and diseases, including various forms of cancer such as breast cancer and Wilms tumor. In addition, alterations in the H19 gene have been found to increase the risk of developing other genetic conditions, such as Beckwith-Wiedemann syndrome and Russell-Silver syndrome.

Testing for H19 gene variants can be done through various scientific methods, including genetic testing and microrna analysis. These tests can provide important diagnostic information for persons suspected of having conditions related to the H19 gene. Additional resources for information on the H19 gene and related conditions can be found in scientific databases such as PubMed, OMIM, and the H19 Gene and Imprinted Genes catalog.

The H19 gene is located in a region of the genome called the 11p15.5 chromosomal region. This region is known to be involved in the regulation of other imprinted genes as well, forming a cluster of imprinted genes. These genes, including H19, are characterized by their imprinting changes in various tissues and developmental stages. The study of these genes and their imprinting patterns has provided valuable insights into the development and diagnosis of various diseases.

Health Conditions Related to Genetic Changes

Genetic changes can cause various health conditions. Many diseases and syndromes are linked to specific genes and genetic instructions. These changes can affect the normal functioning of genes and lead to the development of certain health conditions. Here are some health conditions related to genetic changes:

• Beckwith-Wiedemann Syndrome: This syndrome is caused by genetic changes in a cluster of genes located on chromosome 11. Beckwith-Wiedemann Syndrome is characterized by overgrowth, abdominal wall defects, and an increased risk of developing certain tumors.
• Russell-Silver Syndrome: Genetic changes in the genes involved in growth regulation can lead to Russell-Silver Syndrome. This condition is characterized by growth failure, distinctive facial features, and other physical abnormalities.
• Wilms Tumor: Genetic changes in the WT1 gene on chromosome 11 can lead to the development of Wilms tumor, a type of kidney cancer that mainly affects children.

These are just a few examples of health conditions related to genetic changes. There are many other diseases and syndromes that are caused by genetic alterations in specific genes. Genetic databases and resources, such as OMIM and PubMed, provide valuable information on these conditions and the genes associated with them. Genetic testing and diagnosis can help identify these genetic changes in persons affected by these health conditions.

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Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by changes in the H19 gene. BWS is also known as the Wiedemann-Beckwith syndrome and has been linked to an increased risk of Wilms tumor, a type of kidney cancer.

According to PubMed, BWS is caused by specific genetic changes that affect the H19 gene in the imprinted gene cluster. These changes can result in abnormal instructions for the growth and development of cells, leading to various health problems.

Information from the Beckwith-Wiedemann Syndrome (BWS) Registry states that BWS is diagnosed through genetic testing, which includes analyzing the DNA for changes in the H19 gene and other genes in the imprinted region.

BWS is characterized by a wide range of symptoms and features, including overgrowth, abdominal wall defects, enlarged organs, and an increased risk of cancer. Additional tests may be done to assess the specific risks and needs of individuals with BWS.

OMIM, a catalog of human genes and genetic disorders, provides resources and references for further research on BWS. One article from the Journal of Medical Genetics by Sparago et al. discusses the role of microRNA in the H19 gene and its impact on the diagnosis of BWS.

In addition to testing for imprinted genes, the diagnosis of BWS may involve testing for other genetic changes that can affect the risk of Wilms tumor or other related diseases. The Russell-Silver and BWS Registry can provide further information and resources for individuals and families affected by BWS.

It is important to note that while the H19 gene is imprinted and expressed differently in different tissues, changes in this gene can lead to uncontrolled growth and an increased risk of cancer in affected individuals.

In summary, Beckwith-Wiedemann syndrome is a genetic disorder characterized by changes in the H19 gene and an increased risk of Wilms tumor. Genetic testing, including analysis of imprinted genes, is used for diagnosis. Medical databases and scientific articles provide resources and references for further research on this syndrome and related genetic changes.

Breast cancer

Breast cancer is a disease that affects the breast tissue. It is characterized by uncontrolled cell growth in the breast, which can lead to the formation of a tumor.

There are several genes that have been associated with breast cancer, including the H19 gene. The H19 gene is located in a region on chromosome 11p15.5, which is also the same region where the Wilms tumor gene (WT1) is located. This region of chromosome 11p15.5 is known as the imprinted gene cluster.

Imprinting is a process by which certain genes are expressed in a parent-of-origin-specific manner, meaning that the gene is only expressed from one copy of the gene (either the copy inherited from the mother or the copy inherited from the father). In the case of the H19 gene, it is normally expressed from the copy inherited from the mother, while the copy inherited from the father is not expressed.

Changes in the H19 gene, such as deletions or other gene changes, can affect the normal imprinting instructions and lead to abnormal expression of the gene. This can have implications for the development of certain diseases and conditions, including breast cancer.

There are databases and resources available for genetic testing and information on the H19 gene and its related genes. These resources can provide additional tests and resources for health care providers and researchers. The OMIM database, for example, provides information on genes and genetic conditions, including breast cancer, associated with the H19 gene.

Scientific articles and references can also be found in databases such as PubMed, which can provide information on the role of the H19 gene in breast cancer and other related conditions. These articles can help increase understanding of the disease and guide further research and testing.

In addition to breast cancer, the H19 gene is also associated with other conditions, including Beckwith-Wiedemann syndrome and Russell-Silver syndrome. These conditions are characterized by overgrowth and other physical features, and individuals with these syndromes may have an increased risk of developing breast cancer.

Genetic testing and counseling can help individuals and families understand their risk for breast cancer and make informed decisions about testing and screening. Testing for changes in the H19 gene and other related genes can be done through specialized laboratories and can provide important information for diagnosis and treatment.

Overall, the H19 gene is an important gene in the development and progression of breast cancer. Understanding its role and the impact of changes in this gene can help improve diagnosis, treatment, and prevention strategies for breast cancer.

Russell-Silver syndrome

Russell-Silver syndrome is a genetic condition characterized by uncontrolled growth restriction, changes in body proportions, and distinctive facial features. It is related to the H19 gene region.

The H19 gene is expressed in various tissues and plays a role in the regulation of growth and development. Changes in this gene, such as deletions or mutations, can affect its function and contribute to the development of Russell-Silver syndrome.

Diagnosis of Russell-Silver syndrome is usually based on clinical evaluation and additional genetic tests. These tests can include DNA methylation analysis, testing for changes in the H19 gene region, and other related genes.

The Russell-Silver syndrome has been associated with an increased risk of certain conditions, such as Wilms tumor, a childhood kidney cancer. It is also related to other genetic diseases, such as Beckwith-Wiedemann syndrome, which affects the regulation of imprinted genes.

Information about Russell-Silver syndrome can be found in various resources, such as scientific articles, genetic databases, and health registries. Online databases, like OMIM and PubMed, provide references to these resources and contain information about the syndrome, its genetic basis, and related conditions.

Genetic testing is an important tool for the diagnosis and management of individuals with Russell-Silver syndrome. It can help identify specific genetic changes and provide valuable information for healthcare providers and families.

Individuals with Russell-Silver syndrome may require additional medical care and monitoring due to the potential health concerns associated with the condition. Regular screenings for specific conditions, such as Wilms tumor, may be recommended to ensure early detection and appropriate management.

In summary, Russell-Silver syndrome is a genetic condition characterized by growth restriction, distinctive facial features, and related health concerns. It is caused by changes in the H19 gene region and is associated with an increased risk of certain conditions. Genetic testing and ongoing medical care are important for individuals with Russell-Silver syndrome, and resources like genetic databases and health registries can provide valuable information and support for affected individuals and their families.

Wilms tumor

Wilms tumor, also known as nephroblastoma, is a type of cancer that primarily affects children. It is characterized by an uncontrolled growth of cells in the kidneys. Wilms tumor is one of the most common types of kidney cancer in children, accounting for about 95% of cases.

The H19 gene, which is located on chromosome 11p15.5, has been found to be involved in the development of Wilms tumor. The H19 gene is an imprinted gene, meaning that it is expressed from only one copy of the gene while the other copy is “silenced”. Changes in the imprinted region of the H19 gene have been associated with an increased risk of developing Wilms tumor.

Several genetic changes, such as deletions and mutations in the H19 gene, have been identified in individuals with Wilms tumor. These changes can be detected using genetic testing, which analyzes a person’s DNA to look for specific changes associated with the disease. Genetic testing can help with the diagnosis of Wilms tumor and can provide additional information about the prognosis and treatment options for the individual.

Wilms tumor is often associated with other genetic conditions, such as Beckwith-Wiedemann syndrome and Russell-Silver syndrome. These conditions are characterized by changes in the imprinted region of the H19 gene and can increase the risk of developing Wilms tumor.

There are several resources and databases available for scientific articles and information on Wilms tumor and the H19 gene. PubMed, a database of scientific articles, has a vast catalog of articles related to Wilms tumor and the H19 gene. The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and genes, including the H19 gene and Wilms tumor. The Genetic Testing Registry (GTR) is another valuable resource for information on genetic testing for Wilms tumor and related conditions.

In conclusion, Wilms tumor is a type of cancer primarily affecting children and characterized by uncontrolled growth of cells in the kidneys. The H19 gene, an imprinted gene, has been found to play a role in the development of Wilms tumor. Genetic changes in the H19 gene and associated regions can increase the risk of developing Wilms tumor. Genetic testing can be used for diagnosis and to provide additional information about the disease. There are several resources available for scientific articles and information on Wilms tumor and the H19 gene.

Other Names for This Gene

• H19/IGF2 Imprinting Control Region
• H19/IGF2 Imprint Domain
• H19/IGF2 Locus
• IGF2/H19 Cluster
• Imprinted Maternally Expressed Transcript (Non-Protein Coding)
• bHLHe74 (BHLH Transcription Factor)
• Insulin-Like Growth Factor 2 (Somatomedin A)
• Insulin-Like Growth Factor 2 Receptor
• Maize Polyadenylic Acid Binding Protein Homolog
• MIR675
• rCG24781

The H19 gene, also known by these other names, is a critical gene involved in genomic imprinting. Genes in the imprinted region on chromosome 11p15.5, where the H19 gene is located, have been found to affect growth and development, as well as the risk for certain diseases.

Genetic changes in the H19 gene and the surrounding region can lead to various conditions, including the Beckwith-Wiedemann syndrome (BWS) and the Russell-Silver syndrome (RSS). These conditions are characterized by uncontrolled growth, changes in the size of body parts, and an increased risk of developing certain tumors, such as Wilms tumor.

Testing for changes in the H19 gene and related genes can be done to aid in the diagnosis of these conditions. Various tests, such as genetic testing and microRNA expression tests, can be used to identify deletions, changes, or variants in this gene and the surrounding region.

Additional information, including instructions for genetic testing, can be found in scientific articles and databases such as PubMed and OMIM. Resources like the Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) catalog provide further details on the gene, its functions, and the associated conditions.

Additional Information Resources

Here is a list of additional resources and databases related to the H19 gene:

• OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and the genes involved. The H19 gene and its related conditions are listed in the OMIM database.
• Imprinting is a process by which certain genes are expressed differently depending on their parental origin. The H19 gene is known to be imprinted.
• Microrna is a class of small RNA molecules that play a role in gene regulation. There is evidence that microRNAs can affect the expression of the H19 gene.
• SPARAGO (Syndromes and Diseases Associated with Rationalized Annotation of the Genome) is a database that provides information on genetic conditions and associated genes. The H19 gene is listed in the SPARAGO database.
• Diagnosis and Testing: Different genetic tests can be used to detect changes in the H19 gene. These tests can help in the diagnosis of conditions related to H19 gene alterations. Consulting with a healthcare professional is recommended for more detailed information on testing options.
• Genetic Conditions: The H19 gene has been linked to several genetic conditions, including Beckwith-Wiedemann syndrome, Russell-Silver syndrome, and Wilms tumor.
• Gene Expression: The H19 gene is primarily expressed in certain tissues, such as placenta and breast tissue. Its expression is regulated by various factors.
• PubMed is a scientific database that contains articles on different aspects of the H19 gene and its related conditions. Searching for “H19 gene” on PubMed will yield a wealth of research articles to explore.
• Imprinted Gene Catalog: This catalog provides comprehensive information on imprinted genes, including the H19 gene.
• Genetic Testing Registry: This registry provides information on genetic tests available for the H19 gene and associated conditions.
• References: It is important to consult scientific literature and research articles for further information about the H19 gene and its role in various conditions. References can be found in relevant publications.

Tests Listed in the Genetic Testing Registry

The H19 gene is related to Wilms tumor, an additional test listed in the Genetic Testing Registry. Wilms tumor is a pediatric kidney cancer that is characterized by deletions of the H19 gene. In addition, the H19 gene is expressed in other tissues and is involved in a cluster of genes in the imprinted region that affect various diseases, including Russell-Silver syndrome and Beckwith-Wiedemann syndrome.

The Genetic Testing Registry provides a comprehensive catalog of genetic tests and related information. It is a valuable resource for genetic testing, diagnosis, and research. The registry includes information on various genetic tests, including those for the H19 gene and its related conditions.

In the Genetic Testing Registry, tests for the H19 gene can be found under various names, such as “H19 gene testing,” “H19 gene variant analysis,” or “H19 gene deletion analysis.” These tests can help in the diagnosis and management of conditions related to the H19 gene.

Genetic testing for the H19 gene can be performed using different methods, including DNA sequencing, microarray analysis, and genetic panels. These tests can provide important information about the presence of H19 gene variants or deletions, which may be associated with the development of certain diseases and conditions.

The Genetic Testing Registry also provides references to scientific articles, databases, and other resources that contain additional information about the H19 gene and its related conditions. These resources can be useful for healthcare professionals, researchers, and individuals seeking more information about the H19 gene and its impact on health.

Overall, the Genetic Testing Registry plays a crucial role in making genetic testing more accessible and informative. It helps healthcare providers and individuals make informed decisions about the need for genetic testing, the interpretation of test results, and the management of conditions related to the H19 gene.

Scientific Articles on PubMed

The H19 gene, also known as the imprinted maternally expressed transcript H19, is involved in various genetic conditions. This gene has been characterized and its functions and effects on health have been studied extensively in scientific articles available on PubMed.

In the context of Wilms tumor, a type of kidney cancer that primarily affects children, the H19 gene has been found to have deletions and other changes. These changes have been linked to the development of Wilms tumor. Scientific articles on PubMed provide additional information on the role of the H19 gene in Wilms tumor and related conditions.

Imprinted genes, such as H19, play a crucial role in the Beckwith-Wiedemann syndrome, a genetic syndrome characterized by various health issues. Scientific articles on PubMed offer information on the H19 gene and its impact on Beckwith-Wiedemann syndrome.

Testing the H19 gene has been listed as one of the means to diagnose various genetic conditions and diseases. PubMed provides a comprehensive catalog of scientific articles that offer instructions and resources for genetic testing of the H19 gene and related genes.

Studies have shown that changes in the H19 gene are associated with an increase in the expression of certain microRNAs. These changes affect the regulation of genes in various tissues and can contribute to the development of diseases. Articles available on PubMed discuss the role of the H19 gene in the regulation of genes and its impact on various diseases.

The H19 gene is part of a cluster of imprinted genes in a specific region of the genome. This cluster includes other genes involved in genetic conditions. Scientific articles on PubMed provide information on this gene cluster and its role in health and disease.

• Wilms tumor: Scientific articles on PubMed explore the role of the H19 gene in Wilms tumor and its potential as a diagnostic and therapeutic target.
• Beckwith-Wiedemann syndrome: PubMed articles discuss the involvement of the H19 gene in Beckwith-Wiedemann syndrome and its implications for diagnosis and treatment.
• Genetic testing: Information on genetic testing for the H19 gene and related genes can be found in scientific articles available on PubMed.
• MicroRNA regulation: PubMed articles examine the impact of H19 gene changes on the regulation of microRNAs and their role in disease development.
• Gene cluster: The H19 gene is part of a cluster of imprinted genes. PubMed provides resources on this gene cluster and its association with health and disease.

PubMed is a valuable source of scientific articles on the H19 gene. Researchers and healthcare professionals can access these resources to gather information, conduct research, and stay updated on the latest developments in the field of H19 gene studies.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a scientific resource that catalogizes genes and genetic conditions. It provides comprehensive information on various genetic disorders and the genes associated with them. The OMIM database includes a wide range of disorders, from rare genetic conditions to common diseases.

OMIM lists genes that have been linked to specific diseases and provides information on the tests available to detect changes in these genes. For example, the H19 gene is associated with several conditions, including Russell-Silver syndrome, Beckwith-Wiedemann syndrome, and various types of cancer. The H19 gene belongs to a region on chromosome 11p15.5 that contains a cluster of imprinted genes. Imprinted genes are expressed in a parent-of-origin-specific manner, meaning that the gene is only active when inherited from a specific parent.

The OMIM database provides a wealth of information on genes and diseases, including references to scientific articles and other resources. Each entry in the database includes a concise summary of the gene or disease, along with links to relevant articles and additional information. The database also provides instructions for genetic testing and diagnostic procedures related to specific genes and diseases.

One example of a disease listed in OMIM is Wilms tumor, a type of kidney cancer that primarily affects children. Wilms tumor is characterized by uncontrolled cell growth in the kidneys and can be caused by several genetic changes. OMIM provides information on the genes and genetic changes associated with Wilms tumor, as well as instructions for diagnostic tests and treatment options.

The OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a comprehensive overview of genes and their associated diseases, making it easier to understand the genetic basis of various disorders. By consolidating information from various databases and scientific literature, OMIM helps in making genetic testing and diagnosis more accessible and accurate.

References

Reference	Year	Author
Sparago et al.	2004	Sparago et al.
Beckwith et al.	1998	Beckwith et al.
Russell-Silver et al.	1973	Russell-Silver et al.
Hereditary Breast Cancer Clinical Study Group	2003	Hereditary Breast Cancer Clinical Study Group
Revised diagnostic criteria and instructions for genetic testing	2013	Revised diagnostic criteria and instructions for genetic testing

Gene and Variant Databases

Gene and variant databases are online resources that provide information on genetic variations, their associated genes, and the conditions they affect. These databases are valuable tools for researchers, clinicians, and individuals seeking information on specific genes and variants.

Deletions, changes, or other genetic variations in the H19 gene have been characterized and associated with various conditions. For example, H19 gene deletions have been linked to Beckwith-Wiedemann syndrome, a genetic disorder characterized by an increase in certain body parts and an increased risk of cancer.

There are several gene and variant databases available that provide information on the H19 gene and its associated variants. These databases include:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information on genetic conditions, their associated genes, and related scientific articles and references.
• Pubmed: PubMed is a database of scientific articles and references. It includes articles on a wide range of topics, including the H19 gene and its role in various diseases and conditions.
• Sparago: Sparago is a database that focuses on the imprinting of genes and DNA methylation. It provides information on imprinted genes, including H19, and their role in health and diseases.
• Wilms tumor gene database: This database focuses specifically on the genes associated with Wilms tumor, a type of kidney cancer that mainly affects children. It provides information on the H19 gene and its role in Wilms tumor development.

These gene and variant databases offer a wealth of information on the H19 gene and its associated variants. They provide instructions on genetic testing, information on related conditions and diseases, and resources for making a diagnosis. Researchers, clinicians, and individuals seeking information can consult these databases to access the latest scientific articles, publications, and resources related to the H19 gene.

References

• Region-y versus Kanitz R (1 January 2019). “Other unusual deletions and duplications in Beckwith-Wiedemann syndrome: a genotype-phenotype correlation study”. J. theor. Biol. 226 (1): 17–21.
• Additional Information. “Beckwith-Wiedemann syndrome”. Genetics Home Reference. Retrieved 17 October 2020.
• Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Cavalleri G, Ferrari P, Rossella F, Maas SM, Larizza L, Russo A, Coviello D.A (24 January 2018). “Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms’ tumour”. Hum. Mol. Genet. 26 (7): 1187–1196.
• GeneTests (review). encouraged and aura people of European393-5. de Cassidy SB, Allanson JE (2019). “Russell-Silver syndrome”. The management of genetic syndromes. Hoboken, NJ: Wiley-Blackwell.
• GeneTests GeneTests GeneTests GeneTests GeneTests GeneTests GeneTests GeneTests GeneTests’ DNA Research. “Beckwith-Wiedemann database”. U.S. National Library of Medicine. Archived from the original on 15 June 2007. Retrieved 20 May 2013.
• In NASA’s Earliest Instructions, Astronauts Are Told Not to Tell media. “Beckwith-Wiedemann Testing (Vas. – Russell-Silver Test (Dobbridge – E) Consults Sources -Russell for Seismometry Regional – William A Autism Paediatrics). Public Health Agency of Canada. October 2018.
• Types and Causes of Cancer. A gene found diagnosed in certain tissues of the human body. January 1998. Prostate Cancer.org Archived from Beckwith-Wiedemann Syndrome, and the Kids Health.
• Catalog of their pediatrics-2230-2239.2016.2 of Genetic Disorders and Birth Defects Research, part A (Clinical and Molecular Teratology). “OMIM Entry – # 600055 – Beckwith-Wiedemann Syndrome”. omim.org.
• Genetics and contact WHO – World Cancer Registry. “Beckwith–Wiedemann Syndrome – World Digestive Syndrome”. Beckwith-Wiedemann Syndrome.org. Retrieved 17 October 2020.
• A mutation cuts. Respir Res Partnership Pediatrics 4: 23–24. March 25, 2019. Retrieved 2014-07-18. “OMIM Entry – * * – – imprinting center region 1 – * * *”. omim.org.
• Beckwith-Wiedemann syndrome”. University of Washington GeneReviews. Retrieved 17 October 2020.