The HNF4A gene, also known as HNF4alpha, is a gene that provides instructions for making a protein called hepatocyte nuclear factor 4-alpha. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The HNF4A gene is located on the short (p) arm of chromosome 20 in a region associated with a variety of genetic conditions.

Changes in the HNF4A gene have been identified in individuals with maturity-onset diabetes of the young type 1 (MODY1). This type of diabetes is characterized by high blood sugar levels that develop before age 25. The HNF4A gene mutations responsible for MODY1 result in the production of an abnormal HNF4-alpha protein that cannot perform its usual function of regulating the activity of other genes. As a result, the pancreas does not produce enough insulin, leading to the signs and symptoms of diabetes.

In addition to MODY1, mutations in the HNF4A gene have been associated with hyperinsulinism, a condition in which the body produces too much insulin. Hyperinsulinism is usually diagnosed in young children and can cause low blood sugar levels (hypoglycemia) and related health problems. Mutations in the HNF4A gene can also cause other congenital diseases and conditions.

Scientists continue to study the HNF4A gene and its role in the development of various diseases. The information collected from these studies is stored in various scientific databases, such as PubMed, OMIM, and the HNF4A gene catalog. These resources provide additional information, articles, and references related to HNF4A and its associated conditions. Genetic testing can be done to identify mutations in the HNF4A gene and provide valuable information for diagnosis and treatment purposes.

Health Conditions Related to Genetic Changes

The HNF4A gene, also called HNF4alpha, is listed in the OMIM catalog of human genes. Changes in this gene can lead to various health conditions.

One health condition associated with genetic changes in the HNF4A gene is a form of hyperinsulinism called “hyperinsulinism, autosomal dominant 5” (HHF5). This condition usually manifests as diabetes in adulthood, and it is also known by other names such as “maturity-onset diabetes of the young type 1” (MODY1).

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Genetic changes in the HNF4A gene can also result in other health conditions. One example is the congenital hyperinsulinism (HHF1) caused by mutations in the HNF4A gene. These genetic changes affect the function of the gene and lead to abnormal insulin production and regulation, resulting in low blood sugar levels.

There are several databases and resources that provide additional information on health conditions related to genetic changes in the HNF4A gene. The OMIM database, PubMed, and scientific articles are valuable sources for understanding the genetic changes and associated symptoms. Genetic testing and diagnostic tests can be used to identify these changes and diagnose the conditions.

References:

• OMIM: HNF4A Gene
• PubMed: HNF4A Gene and Health Conditions
• Scientific articles on HNF4A gene mutations and related health conditions

Maturity-onset diabetes of the young

Maturity-onset diabetes of the young (MODY) is a form of diabetes that is usually called monogenic diabetes. It is caused by changes in a gene called HNF4A, which provides instructions for making a protein called HNF4alpha. HNF4A changes the function of genes in a specific region of DNA.

MODY is characterized by early-onset diabetes, usually before the age of 25, and is often mistaken for type 1 diabetes. However, unlike type 1 diabetes, MODY is not an autoimmune disease. The symptoms and progression of MODY can vary depending on the specific variant of the HNF4A gene and other factors.

Mutations in the HNF4A gene can also cause other health conditions, such as hyperinsulinism, which is a congenital form of hyperinsulinism, and other genetic diseases listed in the OMIM database. There are additional resources, such as scientific articles and references from PubMed, that provide information on related conditions and testing for HNF4A gene mutations.

Testing for HNF4A gene changes can be done through genetic testing labs and registries. These tests can help diagnose MODY and provide information on the best treatment options for individuals with this form of diabetes.

It is important for individuals with MODY or suspected MODY to undergo genetic testing and consult with healthcare professionals to better understand their condition and develop appropriate treatment plans.

Congenital hyperinsulinism

Congenital hyperinsulinism (CHI), also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a rare genetic disorder characterized by excessive insulin production, leading to low blood sugar levels from birth.

CHI is caused by mutations in the HNF4A gene, which is responsible for producing a protein called hepatocyte nuclear factor 4 alpha (HNF4α). This protein plays a critical role in regulating the function of several genes involved in insulin production and glucose metabolism.

There are several different genetic variants of the HNF4A gene that can cause CHI. These variants can be inherited from one or both parents or can occur spontaneously in the affected individual. The specific variant of the gene can determine the severity of the condition and the age at which symptoms appear.

The most common symptoms of CHI include frequent episodes of low blood sugar (hypoglycemia), which can cause seizures, unconsciousness, and developmental delays. Other signs and symptoms may include irritability, excessive hunger, poor feeding, and recurrent episodes of vomiting.

Diagnosis of CHI typically involves blood tests to measure insulin and glucose levels. Genetic testing can be used to identify mutations in the HNF4A gene. Other tests, such as imaging studies and hormone tests, may also be used to further evaluate the condition.

CHI is often misdiagnosed as other conditions, such as neonatal diabetes or other forms of hyperinsulinism. Therefore, it is important for individuals with symptoms of CHI to undergo genetic testing to confirm the diagnosis.

Information on CHI and related genetic changes can be found in scientific databases such as OMIM, which provides detailed information on genes, genetic variants, and associated diseases. Other resources, such as PubMed and the Human Gene Mutation Database (HGMD), can also provide additional references and articles on CHI and its related conditions.

A registry called the Congenital Hyperinsulinism International (CHI) Registry collects information on individuals with CHI and provides support and resources for affected individuals and their families.

In summary, congenital hyperinsulinism is a rare genetic disorder caused by mutations in the HNF4A gene. It is characterized by excessive insulin production and low blood sugar levels. Diagnosis involves genetic testing, and resources such as OMIM and PubMed provide additional information and research on the condition.

Other Names for This Gene

The HNF4A gene is also known by other names:

• HNF4alpha
• mODY1

These names are additional terms for the HNF4A gene that are used in scientific research and healthcare resources.

The HNF4A gene is associated with a form of diabetes called maturity-onset diabetes of the young (MODY1). This genetic condition is characterized by changes in the HNF4A gene that affect its function. These changes usually result in early-onset diabetes, often in young adults.

Other conditions associated with changes in the HNF4A gene include congenital hyperinsulinism and other forms of diabetes. Changes in this gene can also be found in individuals with normal blood sugar levels.

Information on genetic testing for changes in the HNF4A gene can be found in databases such as OMIM and the Genetic Testing Registry. These resources provide information on the genetic mutations and symptoms associated with changes in this gene.

References to scientific articles and other research on the HNF4A gene can be found on websites such as PubMed. These references provide additional information on the function of this gene and its role in various diseases and conditions.

Additional Information Resources

Here is a list of additional resources related to the HNF4A gene:

• Health-related websites and databases:
• OMIM – Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic diseases
• PubMed – a database of scientific articles on various health topics
• Genetic tests and diagnostic resources:
• NCBI Genetic Testing Registry – provides information about genetic tests available for HNF4A gene mutations
• HGMD – Human Gene Mutation Database, a database of published mutations in human genes
• Other resources for HNF4A gene:
• HGNC – the HUGO Gene Nomenclature Committee, provides standardized names for genes
• NORD – National Organization for Rare Disorders, provides information on rare diseases
• GenBank – a database of genetic sequence data
• Articles and references:
• Article on HNF4A gene and diabetes
• Article on HNF4A gene and hyperinsulinism

Tests Listed in the Genetic Testing Registry

Genetic testing plays an essential role in understanding and diagnosing various diseases and conditions. In the case of the HNF4A gene, it is important to identify the specific tests listed in the Genetic Testing Registry. The HNF4A gene, also known as the HNF4alpha gene, is associated with a variety of conditions, including hyperinsulinism and maturity-onset diabetes of the young (MODY).

Listed below are some of the tests related to the HNF4A gene:

• HNF4A gene sequencing: This test examines the specific DNA sequence of the HNF4A gene to identify any changes or mutations. It helps in understanding the impact of these changes on the gene’s function and related diseases.
• HNF4A gene variant analysis: This test focuses on identifying specific variants or changes in the HNF4A gene. It helps in determining the variants associated with different diseases and their clinical significance.
• HNF4A gene deletion/duplication analysis: This test detects large-scale changes in the HNF4A gene, such as deletions or duplications. These changes can have a significant impact on the gene’s function and can result in various diseases.

The Genetic Testing Registry provides additional information about these tests, including their purpose, methodology, and interpretation of results. It also offers resources and databases to access detailed information on the HNF4A gene and related conditions.

Other names for the HNF4A gene, such as HNF4alpha, are also listed in the Genetic Testing Registry. These alternate names can be helpful when searching for specific tests or additional scientific articles related to the gene.

For more information on the tests listed in the Genetic Testing Registry regarding the HNF4A gene, interested individuals can refer to the following references:

1. Online Mendelian Inheritance in Man (OMIM) database
2. PubMed scientific literature database
3. Genetic testing catalog and resources

Understanding the genetic changes and mutations in the HNF4A gene is crucial for evaluating the gene’s function and its association with different diseases. The tests listed in the Genetic Testing Registry provide valuable insights into the diagnosis and management of conditions related to the HNF4A gene.

Scientific Articles on PubMed

The HNF4A gene, also known as maturity-onset diabetes of the young (MODY), plays a crucial role in genetic information and is usually associated with diseases. Mutations in this gene can lead to a form of MODY, called HNF4alpha-MODY.

The OMIM database is a valuable resource for information on genetic diseases. It provides a catalog of genes and related articles, including the HNF4A gene. Additional scientific articles on HNF4A can be found on PubMed, a database of biomedical literature. These articles offer insights into the function of the gene and the impact of mutations on its normal function.

Testing for changes in the HNF4A gene is important for the diagnosis of MODY and other related conditions. This can be done through genetic testing or functional tests that assess the changes in the gene’s activity. These tests help in determining the presence of mutations in the HNF4A gene and their association with symptoms and other health conditions.

In addition to MODY, mutations in the HNF4A gene have been linked to other conditions, such as congenital hyperinsulinism. Research articles available on PubMed provide further information on these conditions and their relationship to HNF4A gene mutations.

References to scientific articles on HNF4A and related genes can be found in the publications listed on PubMed. This database serves as a comprehensive resource for researchers and healthcare professionals seeking information on the HNF4A gene, its variants, and associated diseases.

Overall, the scientific articles available on PubMed offer valuable insights into the HNF4A gene, its normal function, the impact of mutations, and their association with various health conditions. Researchers and healthcare professionals can utilize these resources to enhance their understanding of this gene and its role in disease development.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It lists information on genes and the diseases associated with them. One of the genes listed in OMIM is the HNF4A gene, also called HNF4alpha.

HNF4A gene is associated with several conditions, including maturity-onset diabetes of the young (MODY). This gene is also known to be involved in other diseases. OMIM provides information on these genes and the changes in them that result in different health conditions.

OMIM is one of the most trusted databases in the scientific community for genetic information. It provides names and function of genes, as well as detailed information about the associated diseases. The information is presented in a scientific and organized form, making it easy to access and understand.

In addition to the information on genes and diseases, OMIM also provides references to related articles on PubMed. This allows users to access additional information and resources for further study and research.

OMIM is a valuable resource for genetic testing and diagnosis. It helps healthcare professionals and researchers in identifying genetic variations and mutations that may be responsible for certain symptoms or diseases. The database also provides information on additional tests that can be performed to confirm the diagnosis.

The catalog of genes and diseases from OMIM is constantly updated with new information. It is an indispensable resource for anyone studying or working in the field of genetics.

References:

1. First reference on PubMed
2. Second reference on PubMed
3. Third reference on PubMed

Gene and Variant Databases

There are several gene and variant databases available that provide information on the HNF4A gene and its related variants. These databases are a valuable resource for researchers, clinicians, and individuals interested in learning more about the genetic basis of diseases and conditions associated with this gene.

OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic conditions. It provides information on the HNF4A gene, including its function, associated diseases, and references to scientific articles.

PubMed: PubMed is a database of scientific articles in the field of medicine and biomedical sciences. It contains a wealth of information on the HNF4A gene, including studies on its role in diseases such as maturity-onset diabetes of the young (MODY) and hyperinsulinism.

GeneTests: GeneTests is a testing registry that provides information on genetic tests for various conditions. It includes information on tests for HNF4A gene mutations and their associated symptoms.

ClinVar: ClinVar is a database of genetic variants and their relationships to diseases. It contains information on HNF4A gene variants and their clinical significance.

dbSNP: The Single Nucleotide Polymorphism database (dbSNP) is a public repository for genetic variations, including those in the HNF4A gene. It provides information on the frequency and distribution of HNF4A gene variants in different populations.

NCBI Gene: The National Center for Biotechnology Information (NCBI) Gene database provides information on the HNF4A gene, including its genomic location, aliases, and links to additional resources.

In conclusion, the gene and variant databases mentioned above offer a wealth of information on the HNF4A gene and its related variants. They provide valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and conditions associated with HNF4A gene mutations.

References

• Tests: HNF4A gene testing. (n.d.). Retrieved from –

• Other resources: HNF4A gene region. (n.d.). Retrieved from –

• Listed in additional databases: HNF4A gene. (n.d.). Retrieved from –

• Provides information on: HNF4A gene. (n.d.). Retrieved from –

• Normal function: HNF4A gene. (n.d.). Retrieved from –

• Association with young-onset diabetes: HNF4A gene. (n.d.). Retrieved from –

• Association with congenital hyperinsulinism: HNF4A gene. (n.d.). Retrieved from –

• Other names: HNF4A gene. (n.d.). Retrieved from –

• Mutations in HNF4A gene: HNF4A gene. (n.d.). Retrieved from –

• Related genes: HNF4A gene. (n.d.). Retrieved from –

• Information from scientific articles: HNF4A gene. (n.d.). Retrieved from –

• Information from genetic registries: HNF4A gene. (n.d.). Retrieved from –

• Information on related health conditions and symptoms: HNF4A gene. (n.d.). Retrieved from –

• Changes in the HNF4A gene: HNF4A gene. (n.d.). Retrieved from –

• Additional information: HNF4A gene. (n.d.). Retrieved from –