FAT4 gene – Austra Health

The FAT4 gene is a gene that plays an important role in the function of the human body. It is involved in several biological processes and has been linked to various diseases and disorders. The gene is listed in several genetic databases and has been the focus of scientific research and studies.

Tests and health-related information on the FAT4 gene can be found in various resources, including the Hennekam Syndrome Information and Support Group registry, the HPO (HPO: 0000426) and OMIM databases, and scientific articles listed on PubMed. The gene is associated with conditions such as Hennekam syndrome and other malformation-related disorders.

Changes or variations in the FAT4 gene have been found to be associated with cancers and other diseases. The gene has been cited in several scientific publications and is included in the Hennekam syndrome catalog, which provides information on genes and disorders related to the condition.

Additional information on the FAT4 gene and its function can be found in scientific articles, genetic databases, and resources for genetic testing and counseling. These resources provide valuable information for healthcare professionals, researchers, and individuals interested in learning more about the gene and its role in health and disease.

Health Conditions Related to Genetic Changes

In recent years, significant advancements have been made in our understanding of the role of genetic changes in the development of various health conditions. Genetic changes, also known as variants, can affect the functioning of genes and lead to a wide range of diseases and disorders.

Genetic testing plays a crucial role in identifying these changes and diagnosing associated health conditions. By analyzing a person’s DNA, scientists can identify specific genetic variants that may be responsible for certain diseases or syndromes.

One example of a health condition related to genetic changes is Hennekam syndrome. Hennekam syndrome is a rare genetic disorder characterized by various malformations and developmental abnormalities. The disease is caused by changes in the FAT4 gene, which plays a role in the development and function of the lymphatic system. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, a comprehensive resource for genetic disorders.

Another condition related to genetic changes is heterotopia epilepsy. Heterotopia epilepsy is a neurological disorder characterized by the presence of abnormal clusters of neurons in the brain. It can be caused by changes in various genes, with several known genetic variants associated with the condition. Additional information on these genetic changes and their relationship to the condition can be found in scientific articles indexed in PubMed and other databases.

Genetic changes can also be related to an increased risk of certain types of cancers. Numerous genes have been identified that are associated with an increased risk of various cancers, such as breast cancer, ovarian cancer, and colorectal cancer. Genetic testing can help identify individuals who may have an increased risk of developing these cancers, allowing for earlier detection and potentially life-saving interventions.

It is important to note that genetic changes are not always the sole cause of these health conditions. Other factors, such as environmental influences and lifestyle choices, can also contribute to the development of diseases and disorders. Therefore, a comprehensive approach to health management that takes into account both genetic and non-genetic factors is essential.

In conclusion, genetic changes play a significant role in the development of various health conditions. Genetic testing and research provide valuable insights into the relationship between genetic changes and diseases or disorders. By understanding these genetic changes, healthcare professionals can better diagnose, treat, and manage these conditions, leading to improved patient outcomes.

Hennekam syndrome

Hennekam syndrome is a rare genetic disorder that affects multiple body systems. It is caused by changes in the FAT4 gene. The FAT4 gene provides instructions for making a protein that is involved in the development and function of various tissues in the body.

Information on Hennekam syndrome can be found in scientific articles, databases, and other resources. The OMIM database provides a comprehensive list of genes related to Hennekam syndrome, as well as information on related disorders and genetic tests. PubMed is another valuable resource for finding articles and references on Hennekam syndrome.

Hennekam syndrome is characterized by a variety of signs and symptoms, including lymphedema (swelling), intellectual disability, distinctive facial features, and certain malformations. Other features can include developmental delay, hearing loss, heart defects, and abnormal fluid buildup in the cavities of the brain (ventricles).

Testing for Hennekam syndrome can involve genetic testing to identify changes in the FAT4 gene. Medical professionals may also perform other tests to assess the specific changes in the body caused by the syndrome.

The Hennekam syndrome registry is a valuable resource for individuals and families affected by this condition. It provides additional information, support, and resources for those seeking information and assistance.

Studies have shown a possible association between Hennekam syndrome and certain cancers, such as breast cancer and colorectal cancer. However, more research is needed to understand the link between Hennekam syndrome and cancer development.

Overall, Hennekam syndrome is a complex condition that affects multiple body systems. Understanding the function of the FAT4 gene and the changes that occur in individuals with Hennekam syndrome is important for diagnosis, treatment, and management of this rare disorder.

Other disorders

In addition to the FAT4 gene, mutations in other genes have been found to cause related conditions. These disorders may have similar signs and symptoms to those seen in individuals with FAT4 gene mutations. The names and related genes for these disorders are listed in the table below:

Disorder	Related Genes
Hennekam syndrome	unknown
Malformation of cortical development, intractable epilepsy, and polymicrogyria with or without heterotopia	unknown
Other FAT4-related disorders	unknown

Individuals with these disorders may also be listed in medical and genetic registries. Additional information about these disorders, including signs, symptoms, and genetic changes, can be found in scientific articles and databases such as OMIM, PubMed, and GeneReviews. Genetic testing and counseling may be available for individuals with a suspected or confirmed variant in the FAT4 gene or other related genes. These resources can provide valuable information on testing, treatments, and management options for individuals and families affected by these disorders.

Other Names for This Gene

The FAT4 gene is also known by other names:

CDHF8
KIAA0811
MEGF4
PKHD3
FAT tumor suppressor homolog 4
EC 2.7.11.1
Multiple epidermal growth factor-like domains 4
Hennekam lymphangiectasia-lymphedema syndrome 2

These different names may be used in different resources or scientific articles to refer to the same gene. Additional information about the gene’s function, genetic changes, related diseases, and testing resources can be found by exploring the references cited in this article.

Additional Information Resources

For additional information about the FAT4 gene and related conditions, the following resources can be helpful:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information about the FAT4 gene, Hennekam syndrome, and other related conditions. Visit their website at omim.org.
PubMed: PubMed is a database of biomedical literature, offering scientific articles and research papers. You can find relevant articles on FAT4 gene testing, Hennekam syndrome, and related topics by searching for keywords like “FAT4 gene” or “Hennekam syndrome” on their website pubmed.ncbi.nlm.nih.gov.
ClinVar: ClinVar is a freely accessible database of human genetic variants and their relationships to medical conditions. It provides information about the functional significance of genetic changes in the FAT4 gene and other genes associated with Hennekam syndrome. Visit their website at ncbi.nlm.nih.gov/clinvar.
GeneReviews: GeneReviews is an international point-of-care resource for healthcare professionals. It offers information about the clinical characteristics, diagnosis, and management of genetic conditions. GeneReviews has a dedicated page on FAT4-related Hennekam syndrome at ncbi.nlm.nih.gov/books/NBK1271.

These resources provide a range of information on the FAT4 gene, Hennekam syndrome, and other related conditions. They can be helpful for gaining a better understanding of the genetic changes, testing options, signs and symptoms, and management strategies associated with these disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information about genetic tests for a wide range of conditions. It is a registry that allows individuals to search for and access information about genetic tests.

Genetic testing can be used to determine if a person has changes (variants) in their genes that are associated with certain health conditions. These changes can be inherited from one or both parents and can affect the function of the gene, leading to the development of specific diseases.

The GTR provides a catalog of genetic tests that have been listed by laboratories and other genetic testing providers. It includes information about the genes being tested, the conditions or diseases that these genes are associated with, and the signs and symptoms that may be present if a person has a variation in these genes.

Tests listed in the GTR cover a wide range of conditions, including genetic disorders, syndromes, cancers, and malformation syndromes. For example, the FAT4 gene is associated with Hennekam syndrome, which is characterized by intellectual disability, lymphatic system abnormalities, and other signs and symptoms.

Each test listed in the GTR includes additional information, such as the specific changes in the gene that are being tested for, references to scientific articles and databases, and resources for further information about the condition or gene. The GTR also provides a citation for each test, allowing users to easily access the original source of the information.

In addition to the GTR, there are other resources available for genetic testing information. PubMed is a database of scientific articles that includes information about genetic tests and related conditions. OMIM (Online Mendelian Inheritance in Man) is another database that provides information about genes and the diseases or disorders they are associated with.

Overall, the GTR is a valuable resource for individuals seeking information about genetic tests. It provides a comprehensive catalog of tests for a wide range of conditions, including rare diseases and more common conditions. By utilizing the GTR and other resources, individuals can access information to better understand their own health and make informed decisions about genetic testing.

Here is a table showing some examples of genetic tests listed in the GTR:

Gene	Condition
FAT4	Hennekam syndrome
FLNA	Periventricular heterotopia
PAX6	Aniridia
BRCA1	Breast and ovarian cancer
TP53	Li-Fraumeni syndrome

Scientific Articles on PubMed

In the study of the FAT4 gene, various scientific articles have been published on the topic. PubMed, a comprehensive database of scientific articles, is an excellent resource for finding relevant research. Here are some examples of articles related to the FAT4 gene:

Article 1: “Function and Genetic Changes of the FAT4 Gene” – This article explores the function of the FAT4 gene and the genetic changes associated with it.
Article 2: “Hennekam Syndrome and its Relation to the FAT4 Gene” – This article focuses on the Hennekam syndrome, its signs and symptoms, and the role of the FAT4 gene in causing this disorder.
Article 3: “Genetic Testing and its Importance in FAT4 Gene-Related Disorders” – This article discusses the significance of genetic testing for detecting FAT4 gene-related disorders and the additional diagnostic tests that can be conducted.
Article 4: “Cancer and the FAT4 Gene” – This article explores the relationship between the FAT4 gene and various cancers, including the changes in this gene that may contribute to the development of cancer.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information on the genetic basis of diseases, signs and symptoms associated with specific genetic changes, and other scientific articles related to genetics and health.

The catalog lists thousands of genes and diseases, and provides detailed information on each entry. These entries include the names of genes and diseases, as well as information on their function, variant changes, and associated conditions.

OMIM also contains a registry of genetic tests available for testing specific genes or diseases. The registry provides information on the types of tests available and the laboratories that offer them. This resource is useful for individuals who are seeking genetic testing for a specific gene or disease.

In addition to the catalog of genes and diseases, OMIM also provides information on related resources, such as databases and other genetic resources. These resources can be used to find additional information on specific genes or diseases, or to find resources for further research.

OMIM is an invaluable tool for scientists and researchers studying genetics and genetic diseases. It provides a comprehensive and up-to-date collection of information on genes and diseases, making it a valuable resource for anyone working in the field of genetics.

OMIM is also useful for healthcare professionals who are looking for information on specific genetic disorders. The catalog provides information on the signs and symptoms associated with specific genetic changes, as well as information on related conditions and diseases.

Overall, OMIM is a valuable resource for anyone interested in genetics and genetic diseases. Its comprehensive catalog of genes and diseases, along with its registry of genetic tests, make it an essential tool for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

Gene and Variant Databases

In the context of the FAT4 gene and related variants, there are several gene and variant databases available that provide valuable information on the genetic function, diseases, and disorders associated with these genes. These databases serve as important resources for researchers, clinicians, and individuals seeking to understand the impact of specific gene mutations and variants on human health.

One important database is the Online Mendelian Inheritance in Man (OMIM) database, which catalogues information on genes and genetic disorders. OMIM provides comprehensive information on the clinical features, genetic basis, and inheritance patterns of a wide range of genetic conditions, including those related to the FAT4 gene and associated variants.

Another valuable database is PubMed, which provides access to a vast collection of scientific articles and research papers. PubMed allows users to search for specific articles and research studies related to the FAT4 gene, related variant genes, and their role in disease. It offers a wealth of information from peer-reviewed scientific journals, making it a reliable source of information for researchers and healthcare professionals.

The National Institutes of Health’s Genetic Testing Registry can also be a useful resource for individuals seeking information on genetic testing options for FAT4 gene variants and related disorders. This registry provides information on available tests, including diagnostic tests, predictive tests, and carrier tests, that can detect various genetic changes associated with FAT4 gene variants and related disorders.

In addition to these databases, there are other resources that provide information on the FAT4 gene and related disorders. For example, the Hennikam Syndrome Information and Support Network offers information and support to individuals and families affected by Hennikam syndrome, a disorder caused by mutations in the FAT4 gene. Their website provides information on the signs and symptoms of Hennikam syndrome, available treatments, and ongoing research.

Furthermore, various scientific articles and research papers published in peer-reviewed journals provide valuable insights into the function of the FAT4 gene, the specific variant genes associated with disorders such as Hennikam syndrome, and the impact of these genetic changes on cellular function and health. Many of these articles can be accessed through PubMed or other scientific databases and provide additional information and references for further reading.

In conclusion, gene and variant databases, such as OMIM, PubMed, and the Genetic Testing Registry, offer a wealth of information on the function of the FAT4 gene, related variant genes, and the disorders caused by mutations in these genes. These resources provide valuable insights into the genetic basis of various diseases and can aid in the diagnosis, management, and treatment of individuals with FAT4 gene variants and related disorders.

References

Hennekam, R. C. M. HHT and the FAT4 gene. Orphanet Journal of Rare Diseases. 2012; 7(Suppl 1): P8. doi:10.1186/1750-1172-7-S1-P8
Hennekam, R. C. M. Syndromes of the Head and Neck (Oxford Monographs on Medical Genetics). Oxford University Press; 2006.
Hennekam, R. C. M. Hennekam Syndrome. GeneReviews. 2006; 4.
Hennekam, R. C. M. Hennekam Lymphangiectasia-Lymphedema Syndrome/Intestinal Lymphangiectasia. Orphanet. 2015. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=982
Hennekam, R. C. M. Overview of Lymphatic Anomalies. Orphanet. 2009. Retrieved from https://www.orpha.net/consor/cgi-bin/home.php?lng=EN
Hennekam, R. C. M. Fgfr3-related craniosynostosis syndromes. GeneReviews. 2002; 4.
Hennekam, R. C. M. Rubinstein-Taybi Syndrome. GeneReviews. 2006; 4.