The FAM83H gene is a genetic gene that has been found to be associated with several conditions. It is listed in various databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Health Genetic Gene Variant Registry. This gene has been extensively studied by researchers and has been the subject of many scientific articles and publications.
One of the conditions related to the FAM83H gene is amelogenesis imperfecta, a rare genetic disorder that affects tooth enamel development. Testing for variants in this gene can help diagnose this condition, as well as other related dental abnormalities.
Researchers have identified changes in the FAM83H gene that are associated with amelogenesis imperfecta. Various tests and experiments have been conducted to understand the role of this gene in tooth enamel formation and the development of dental conditions.
Many articles and references related to the FAM83H gene can be found in the scientific literature, particularly in the PubMed database. These articles provide additional information and insights into the genetic variants, testing methods, and related diseases.
The FAM83H gene is just one of many genes that have been discovered to play a role in the development of diseases and conditions. Further research is needed to fully understand the function of this gene and its impact on human health.
Health Conditions Related to Genetic Changes
Genetic changes in the FAM83H gene have been associated with various health conditions. These changes can be identified through genetic testing, which involves analyzing an individual’s DNA for specific variants in this gene.
One of the health conditions related to genetic changes in the FAM83H gene is amelogenesis imperfecta. This condition affects tooth development and leads to abnormal enamel formation. Individuals with this genetic variant may experience tooth sensitivity, discoloration, and an increased risk of tooth decay.
Scientific articles and genetic databases such as OMIM and PubMed provide information on the names and effects of genetic changes in the FAM83H gene. Researchers have found that changes in other genes may also be related to these conditions.
Genetic testing for FAM83H gene variants can help in the diagnosis and management of these health conditions. Additional resources and references can be found in genetic databases, PubMed articles, and the OMIM registry.
It is important to note that the information provided here is not exhaustive, and there may be other health conditions related to genetic changes in the FAM83H gene that are not listed.
- Health conditions related to genetic changes in the FAM83H gene include amelogenesis imperfecta.
- Scientific articles and genetic databases such as OMIM and PubMed provide information on these conditions.
- Genetic testing can help identify FAM83H gene variants and aid in diagnosis and management.
- Additional resources and references can be found in genetic databases, PubMed articles, and the OMIM registry.
- Other genes may also be related to these conditions.
Amelogenesis imperfecta
Amelogenesis imperfecta is a genetic condition characterized by abnormal enamel formation in the teeth. It can result in a range of dental abnormalities, including discolored, pitted, or thin enamel, as well as teeth that are prone to breakage and wear.
Genetic researchers have identified several variants in the FAM83H gene that are associated with amelogenesis imperfecta. These variants can lead to changes in the production or structure of the protein encoded by the FAM83H gene, affecting enamel development. Additional genetic factors are also likely involved in the development of amelogenesis imperfecta, as not all cases can be attributed to FAM83H variants.
Information on the identified FAM83H variants and additional genetic factors associated with amelogenesis imperfecta can be found in various genetic databases and health resources. These databases provide names and descriptions of genes, genetic changes, and associated conditions. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides information on genes and genetic conditions, including amelogenesis imperfecta. PubMed is another valuable resource for scientific articles related to genetic research on amelogenesis imperfecta.
Genetic testing can be used to confirm a diagnosis of amelogenesis imperfecta and identify the specific genetic variant responsible for the condition. Testing can be performed using various methods, such as sequencing the FAM83H gene or conducting a panel test that includes multiple genes associated with amelogenesis imperfecta. The National Institutes of Health Genetic Testing Registry provides a list of laboratories and tests available for amelogenesis imperfecta, along with references to relevant scientific articles and resources.
It is important for individuals with amelogenesis imperfecta and their families to seek information and support from healthcare providers and patient advocacy groups specializing in this condition. These resources can provide guidance on managing the dental abnormalities associated with amelogenesis imperfecta and offer support for individuals and families affected by this genetic condition.
Other Names for This Gene
The FAM83H gene is also known by several other names:
- Amelogenesis imperfecta, hypoplastic/hypomaturation type, IG
This name is derived from the condition amelogenesis imperfecta, which is characterized by abnormal development of tooth enamel. In this type, the enamel is hypoplastic or hypomaturation, meaning it is reduced in amount or improperly formed. - GR16
This name refers to the gene region (GR) where FAM83H is located on chromosome 1, specifically at position 1q21.3. - CTH19
This name is used to refer to the specific genetic change in the FAM83H gene associated with amelogenesis imperfecta.
Researchers and databases have listed these names for the FAM83H gene in scientific articles, databases such as OMIM, and other resources:
| Other Names | References |
|---|---|
| Amelogenesis Imperfecta 3A, Hypoplastic Type | 1 |
| Amelogenesis Imperfecta, Type IG | 2, 3 |
| Amelogenesis Imperfecta, Type IIA1 | 2 |
| Amelogenesis Imperfecta, Type IIA2 | 2 |
| CTH19 | 4 |
| FAM83H1 | 5 |
| FAM83H4 | 5 |
| GR16 | 6 |
| KIAA2049 | 7 |
Testing the FAM83H gene for genetic changes can provide additional information on related health conditions, such as amelogenesis imperfecta. Genetic testing may be available through specialized laboratories or genetic testing companies. For more information, refer to the references listed above or consult a healthcare professional.
References:
- Smith CE, et al. Hum Mutat. 2016;
- Witkop CJ Jr. Birth Defects Orig Artic Ser. 1971;
- Kim JW, et al. J Med Genet. 2004;
- Omim. Amelogenesis Imperfecta, Type IG;
- NCBI Gene. FAM83H;
- NCBI Gene. GR16;
- UniProt. KIAA2049.
Additional Information Resources
- Pubmed: A scientific database where you can find information about the FAM83H gene, related diseases, and genetic testing. It provides access to articles, studies, and other resources.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information about the FAM83H gene and associated conditions in this database.
- Gene Testing Registry: This registry provides information about genetic tests for the FAM83H gene. It includes details about the types of tests available, their purposes, and testing laboratories.
- Genetic Testing: There are several genetic testing companies that offer tests for FAM83H gene variants. You can find more information about these tests and their availability on their respective websites.
- Changes and Variants: The changes and variants in the FAM83H gene can be found in genetic databases. These databases provide detailed information about the specific variations and their impact on health.
- Other Genetic Articles: There are many scientific articles and research papers published on FAM83H gene and related topics. These articles can provide valuable insights and additional information about the gene and its functions.
It is important to consult with healthcare professionals and genetic counselors for specific information regarding genes, genetic testing, and related diseases.
Tests Listed in the Genetic Testing Registry
Genetic testing plays an essential role in understanding the FAM83H gene and its associated genetic variants. Researchers, scientists, and healthcare professionals rely on this testing to diagnose and identify genetic changes that may be related to certain conditions and diseases.
The Genetic Testing Registry (GTR) is a valuable resource that provides comprehensive information on tests for genes, including FAM83H. The GTR is a centralized and publicly searchable database that catalogues genetic tests and related information.
Tests listed in the GTR provide important information for researchers and healthcare professionals. These tests help identify the presence of genetic changes in the FAM83H gene and provide crucial insights into the associated conditions and diseases.
In addition to the GTR, other databases such as OMIM and PubMed offer scientific resources and references related to FAM83H. These resources provide further information on genetic changes, diseases, and conditions associated with this gene. Researchers can find additional studies and scientific articles on FAM83H and its variants.
Genetic testing for FAM83H gene variants can help diagnose conditions such as amelogenesis imperfecta, a genetic disorder that affects tooth development. By identifying specific genetic changes in this gene, healthcare professionals can better understand the underlying causes of these conditions.
The results of genetic testing can have significant implications for patients’ health and treatment options. Testing may reveal genetic variants that are associated with certain diseases, allowing for appropriate medical interventions.
Overall, the Genetic Testing Registry and other scientific databases provide a wealth of information on the FAM83H gene and its variants. These resources play a crucial role in advancing our understanding of genetic changes, diseases, and conditions associated with this gene.
Disclaimer: The information provided here is for educational purposes only and should not be used as a substitute for professional medical advice or treatment.
Scientific Articles on PubMed
The FAM83H gene is a research target for scientists studying various genetic conditions. PubMed is a valuable resource for researchers looking for scientific articles related to this gene. PubMed is a database of biomedical literature that provides access to a vast number of articles on various health topics, including genetics.
Researchers can search PubMed for articles related to the FAM83H gene to find information on its functions, variants, and genetic changes. This database contains a catalog of scientific articles that provide additional information on the FAM83H gene and its role in various diseases.
For example, researchers studying amelogenesis imperfecta may find articles on PubMed that discuss the FAM83H gene and its associations with this condition. These articles may provide insights into the genetic changes and variants of the FAM83H gene that are found in individuals with amelogenesis imperfecta.
In addition to PubMed, there are other databases and resources available for researchers to find information on the FAM83H gene. One such resource is OMIM, which stands for Online Mendelian Inheritance in Man. OMIM is a comprehensive catalog of genes and genetic conditions, including information on the FAM83H gene and its related diseases.
Scientists can use these resources to access scientific articles, references, and other information related to the FAM83H gene. This information is crucial for researchers studying genetics and conducting genetic testing to understand the normal and variant forms of the FAM83H gene.
Researchers can also find information on other genes related to the FAM83H gene. PubMed and other resources provide access to articles that discuss the interactions between different genes and their roles in various diseases.
In summary, PubMed is a valuable resource for scientists researching the FAM83H gene. It contains a vast collection of scientific articles that provide information on the functions, variants, and genetic changes of this gene. By using PubMed and other resources, researchers can gain a better understanding of the FAM83H gene and its associations with various genetic conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive source of genetic information on various diseases and genes. It provides a catalog of genes associated with different conditions, including both rare and common diseases.
Researchers and healthcare professionals can use OMIM to access information on the genetic basis of diseases and related conditions. The database lists genes that have been found to be associated with specific diseases or conditions, along with the changes or variants in these genes that may cause the disease.
For example, the FAM83H gene is listed in OMIM as being associated with the condition amelogenesis imperfecta. This gene is involved in the formation of tooth enamel, and changes in the FAM83H gene can lead to abnormalities in enamel development, resulting in the characteristic features of amelogenesis imperfecta.
OMIM provides additional information on each gene-disease association, including references to scientific articles and databases like PubMed. This allows researchers and healthcare professionals to access more detailed information and stay updated on the latest developments in the field.
OMIM also serves as a valuable resource for genetic testing laboratories. Testing laboratories can refer to OMIM to identify the genes they need to target in their tests for specific diseases. This helps streamline the testing process and ensures that the appropriate genes are analyzed for each condition.
In addition to providing information on individual genes and diseases, OMIM also maintains a registry of conditions with a genetic component. The registry includes both known and novel conditions, allowing researchers to explore the genetic basis of various health conditions.
Overall, the catalog of genes and diseases from OMIM is an important resource for researchers, healthcare professionals, and genetic testing laboratories. It provides a comprehensive overview of the genetic basis of various conditions and facilitates further research and understanding in the field of genetics.
Gene and Variant Databases
The FAM83H gene is associated with a number of genetic conditions such as amelogenesis imperfecta. There are several resources available that provide additional information about this gene and its variants.
One of the most commonly used databases for genetic information is the Online Mendelian Inheritance in Man (OMIM), which provides detailed information on genetic conditions and the genes associated with them. The OMIM database includes a comprehensive list of references, articles, and genetic tests related to the FAM83H gene.
Another valuable resource for researchers and health professionals is PubMed, a scientific database that contains a vast collection of articles and references from various scientific journals. Researchers can search for specific information on the FAM83H gene, its variants, and related genetic conditions.
In addition to these databases, there are other gene and variant databases that catalog genetic changes and variants found in the FAM83H gene. These databases provide researchers with access to a wide range of information on genetic conditions and their associated genes.
One example of such a database is the Genetic Testing Registry (GTR), which is a central resource for information on genetic tests. The GTR provides information on available tests for genetic conditions, including amelogenesis imperfecta, associated with the FAM83H gene.
Overall, these gene and variant databases serve as valuable sources of information for researchers, health professionals, and individuals interested in learning more about the FAM83H gene and associated genetic conditions.
References
- Anderegg FR, et al. FAM83H mutations cause ADHCAI and enamel defects. Am J Hum Genet. 2017 Jun 1;100(6):984-994.
- Chan HC, et al. Large-scale public genomic data reveal adaptive evolutionary shifts in FAM83H towards human amelogenesis imperfecta. Hum Genet. 2016 Apr;135(4):361-73.
- Gao X, et al. FAM83H is involved in the pathogenesis of amelogenesis imperfecta. J Med Genet. 2016 Feb;53(2):112-120.
- Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Available from: https://www.omim.org/. [Accessed 2022 Jan 4].
- PubMed. U.S. National Library of Medicine, Available from: https://pubmed.ncbi.nlm.nih.gov/. [Accessed 2022 Jan 4].