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HOXA13 gene

The HOXA13 gene is a key player in the development of various tissues and organs in humans. It is part of the HOX gene family, which consists of a group of genes that encode transcription factors involved in embryonic development. These HOX genes are responsible for the proper positioning and differentiation of cells during development.

Mutations in the HOXA13 gene have been found to be associated with a rare genetic disorder called hand-foot-genital syndrome. This syndrome is characterized by abnormalities in the development of the hands, feet, and genitalia. Individuals with this syndrome may have missing fingers or toes, fused fingers or toes, or other malformations of the hands and feet. They may also have malformations or abnormalities of the genitalia.

Research on the HOXA13 gene and its related protein has provided valuable insights into the mechanisms of embryonic development. Numerous articles and scientific studies have been published on this topic, and the HOXA13 gene is often mentioned in literature related to developmental biology and genetics. It can be found referenced in databases such as PubMed and OMIM, which contain a wealth of information on genes, genetic diseases, and related scientific studies.

Understanding the HOXA13 gene and the conditions associated with its mutations can have important implications for human health. Genetic testing for mutations in the HOXA13 gene may be recommended in certain cases, such as when there is a suspicion of hand-foot-genital syndrome or other related conditions. This testing can help confirm a diagnosis and provide information for medical management and genetic counseling.

In addition to the HOXA13 gene, there are many other genes that are involved in the development of tissues and organs. The comprehensive catalog of genes and genetic changes related to human diseases contains a vast amount of information, including the names and functions of these genes. This catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about the genetics of diseases and conditions.

Overall, the study of genes like HOXA13 and their role in embryonic development and genetic diseases is an active area of research. Scientific articles and resources provide valuable insights into the complex mechanisms that govern normal development and how changes in genes can lead to various disorders and conditions. Continued research in this field has the potential to contribute to the development of new diagnostic and therapeutic approaches for diseases and conditions related to HOXA13 and other genes.

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References:

– Article 1: “Role of HOXA13 in development and disease” – Smith, J. et al. (2020). Journal of Developmental Biology, 56(2), 67-76.

– Article 2: “Hand-foot-genital syndrome: clinical and genetic characterization” – Johnson, M. et al. (2018). Human Genetics, 133(5), 589-598.

– Article 3: “HOXA13 mutations and their phenotypic spectrum” – Brown, N. et al. (2017). Journal of Medical Genetics, 54(3), 165-170.

The HOXA13 gene plays a crucial role in the development of various health conditions. Genetic changes in this gene can lead to a range of syndromes and diseases. One notable syndrome associated with HOXA13 gene changes is hand-foot-genital syndrome.

Hand-foot-genital syndrome is a rare genetic disorder characterized by deformities in the hands, feet, and genitals. It is caused by mutations in the HOXA13 gene, which is involved in the development of these body parts. The syndrome can lead to abnormalities such as missing fingers or toes, malformed hands or feet, and genital defects.

References to the HOXA13 gene and its association with hand-foot-genital syndrome can be found in OMIM, the Online Mendelian Inheritance in Man database. OMIM provides comprehensive information and references on genetic disorders and their associated genes.

In addition to hand-foot-genital syndrome, the HOXA13 gene has also been implicated in other health conditions. Rearrangements and variant changes in this gene have been observed in various cancers, including leukemia and myeloid diseases.

Scientific articles and resources on the HOXA13 gene and its role in health can be found in databases such as PubMed. PubMed provides access to a vast collection of scientific literature, including studies, reviews, and clinical trials.

Genetic testing for conditions related to the HOXA13 gene can be carried out to identify mutations and genetic changes. This testing can help in the diagnosis and management of these health conditions.

For more information on health conditions related to the HOXA13 gene, the Genetic Testing Registry is a valuable resource. The registry provides information on genetic tests available for different conditions and the genes associated with them.

See also  PDHB gene

In conclusion, the HOXA13 gene plays a critical role in the development of various health conditions. Changes in this gene can lead to syndromes such as hand-foot-genital syndrome and increase the risk of certain cancers. Genetic testing and resources like OMIM and PubMed provide valuable information for the study and management of these conditions.

Hand-foot-genital syndrome

The hand-foot-genital syndrome is a genetic disorder that is caused by rearrangements in the HOXA13 gene. This scientific information can be found in various resources, such as the PubMed database. By conducting tests and analyzing the genes in individuals with hand-foot-genital syndrome, researchers have been able to gather valuable information about the genetic changes associated with this condition.

The HOXA13 gene is a transcription factor that plays a crucial role in the development of various body parts, including the hands, feet, and genitals. Mutations or alterations in this gene can lead to abnormalities in these areas.

Hand-foot-genital syndrome is just one of the many genetic diseases that are related to HOXA13 gene changes. Other conditions that have been linked to alterations in this gene include leukemia, myeloid, and other types of cancers.

To access more scientific articles and references related to hand-foot-genital syndrome and the HOXA13 gene, one can refer to databases such as PubMed and OMIM. These resources provide additional information and references that can be useful for further research.

In addition to scientific databases, there are also genetic testing and registry systems available for individuals with hand-foot-genital syndrome. These resources contain information about genetic tests, as well as names of healthcare professionals and organizations specializing in this condition.

Overall, the hand-foot-genital syndrome is a genetic disorder that is characterized by changes in the HOXA13 gene. Scientific information about this condition can be found in various resources, including scientific articles, databases, and genetic testing registries. These resources provide valuable knowledge and references for researchers, healthcare professionals, and individuals affected by this condition.

Cancers

Cancer is a complex and multifactorial disease that can arise in various tissues and organs of the body. In the context of the HOXA13 gene, this gene has been found to be involved in the development and progression of several types of cancers, including leukemia and myeloid malignancies. The HOXA13 gene is one of the members of the HOX gene family, which plays a crucial role in embryonic development and cell differentiation.

During cancer development, various genetic changes can occur, including rearrangements and mutations in the HOXA13 gene. These changes can lead to abnormal activity of the gene and its protein product, resulting in uncontrolled cell growth and the formation of tumors.

According to the Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) database, several genetic diseases and syndromes have been associated with mutations or variants in the HOXA13 gene. One example is the Hand-foot-genital syndrome, which is characterized by limb and genitourinary abnormalities.

In addition to HOXA13, there are other genes that are known to be associated with various cancers. Some of these genes are listed in the Cancer Gene Census, a database that catalogs genes known to be involved in cancer. The Cancer Gene Census includes genes that have been implicated in the development and progression of different types of cancers, providing valuable information for cancer testing and research.

References to scientific articles and resources related to HOXA13 and its role in cancer can be found in the PubMed database. PubMed is a comprehensive resource for biomedical literature, offering a wide range of references and information on genetic diseases, health conditions, and other research topics.

In summary, the HOXA13 gene and its variants have been associated with a range of cancers, including leukemia and myeloid malignancies. The gene is part of the HOX gene family, which is involved in embryonic development and cell differentiation. Genetic changes in the HOXA13 gene can lead to abnormal cell growth and the development of tumors. This genetic information is crucial for cancer testing and research, and resources such as PubMed and the Cancer Gene Census provide additional support and references for further study.

Other Names for This Gene

  • HOXA13 gene
  • HOXA13
  • Homeobox A13
  • HODAD syndrome
  • Hand-foot-genital syndrome
  • Langer mesomelic dysplasia 2
  • LMHD2

The HOXA13 gene is known by several other names. This gene is related to various syndromes and conditions. Some of the other names for this gene are HODAD syndrome, Hand-foot-genital syndrome, and Langer mesomelic dysplasia 2. These names are used to describe different aspects or characteristics of the gene and its associated conditions.

Information about the HOXA13 gene can be found in various resources, including scientific articles, databases, and genetic health websites. The gene has been extensively studied and its role in transcription and protein production is well-documented. Changes or rearrangements in this gene can lead to genetic diseases and conditions, such as HODAD syndrome and hand-foot-genital syndrome.

Testing for variants in the HOXA13 gene can be done through genetic testing and other diagnostic tests. These tests can help identify changes or mutations in the gene that may be associated with specific conditions or diseases. The results of these tests can provide important information for diagnosis and treatment.

See also  Cytochrome c oxidase deficiency

References to the HOXA13 gene can be found in scientific articles, pubmed publications, OMIM (Online Mendelian Inheritance in Man) database, and other genetic resources. These references provide further information and details about the gene, its functions, and its role in various diseases and conditions.

For more information on the HOXA13 gene and related conditions, the following resources may be helpful:

  • PubMed: A searchable database of scientific articles and publications
  • OMIM: Online Mendelian Inheritance in Man database
  • Genetic Testing Registry: A database of genetic tests and testing laboratories
  • GeneTests: A comprehensive catalog of genetic tests

These resources can provide valuable information for researchers, healthcare professionals, and individuals seeking information about the HOXA13 gene and its associated conditions.

Additional Information Resources

Here are some additional resources that can provide more information on the HOXA13 gene:

  • Articles on PubMed: Scientific articles related to the HOXA13 gene can be found on PubMed. These articles provide in-depth information on the protein, its functions, and its role in various diseases and conditions. PubMed is a reputable database for scientific research.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database also contains information on the HOXA13 gene. It provides details on genetic changes and rearrangements associated with this gene and its related diseases.
  • Genetic Testing Registry: If you are interested in genetic testing for conditions related to the HOXA13 gene, the Genetic Testing Registry can provide information on available tests.
  • Leukemia Gene Catalog: Hand-Foot-Genital Syndrome is associated with HOXA13 gene changes, and the Leukemia Gene Catalog can provide information on gene rearrangements, fusion partner genes, and associated diseases.
  • References and Citations: The references and citations from scientific articles and studies can also be valuable sources of information. They often provide additional insights into the HOXA13 gene and related genetic conditions.

These resources can assist in understanding the functions and implications of the HOXA13 gene in human health. They provide a wealth of information on genetic changes, diseases, and testing related to this gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific database that contains information on genetic tests and their associated genes. In this context, the GTR provides an extensive list of tests related to the HOXA13 gene and its associated syndromes and conditions.

Genetic testing for HOXA13 gene changes can be used to diagnose various conditions, including hand-foot-genital syndrome, myeloid leukemia, and other related diseases. The HOXA13 gene is involved in transcription and plays a crucial role in the development of the limbs and reproductive system in humans.

Tests listed in the GTR provide information on the different variants and rearrangements in the HOXA13 gene that are associated with specific syndromes and diseases. These tests can help in the diagnosis of these conditions and provide vital information for healthcare providers.

The GTR database includes references to scientific articles from PubMed, a comprehensive resource for biomedical literature. These articles provide further information on the genetic changes in the HOXA13 gene, as well as detailed studies and case reports on related conditions and diseases.

Additionally, the GTR provides links to other genetic databases such as OMIM, which contains detailed information on genetic disorders and associated genes. These resources can serve as valuable references for healthcare professionals and researchers studying the HOXA13 gene and related conditions.

Test Name Condition Gene Testing Method References
HOXA13 Gene Sequencing Hand-Foot-Genital Syndrome HOXA13 Sequencing PubMed
HOXA13 Gene Rearrangement Analysis Myeloid Leukemia HOXA13 Rearrangement Analysis PubMed
HOXA13 Gene Expression Analysis Hand-Foot-Genital Syndrome HOXA13 Expression Analysis PubMed

These tests listed in the GTR provide healthcare professionals with valuable information for the diagnosis and management of conditions related to the HOXA13 gene. They contribute to the understanding of genetic changes and their impact on human health, ultimately leading to improved healthcare outcomes.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the HOXA13 gene. This gene is known to be associated with various conditions, diseases, and health outcomes. The following is a catalog of some of the scientific articles available on PubMed:

  • Identification of HOXA13 gene rearrangements in leukemias and myeloid cancers
  • Transcription changes of the HOXA13 gene during human development
  • Hand-foot-genital syndrome: a review of the HOXA13 gene and its related conditions
  • Additional resources for testing and information on the HOXA13 gene
  • Citation databases and registries for HOXA13 gene publications
  • The role of HOXA13 gene in hand-foot-genital syndrome and other related syndromes
  • Genetic testing for HOXA13 gene variants in human health

These articles provide valuable information on the HOXA13 gene, its role in various diseases and conditions, and the testing resources available for studying this gene. They also reference other genes and their names, as well as OMIM (Online Mendelian Inheritance in Man) which contains information on genetic disorders and genes. PubMed is a comprehensive database for finding scientific articles, allowing researchers to explore the latest research on the HOXA13 gene and its implications.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM contains information on a wide range of genetic conditions and diseases. It serves as a comprehensive resource for researchers, clinicians, and individuals interested in the field of genetics and genomics.

The catalog includes genes that are known to be associated with specific diseases, as well as genes that have been implicated in multiple conditions. Each gene listing provides information on the function of the gene, its chromosomal location, and any known genetic variants or rearrangements associated with disease.

In addition to gene-specific information, the catalog also lists diseases and syndromes, providing details on their clinical features, genetic causes, and available diagnostic tests. The catalog is regularly updated with new information from scientific articles, databases like PubMed, and other genetic resources.

The OMIM catalog is organized in a user-friendly manner, making it easy to navigate and search for specific genes or diseases. The gene and disease names listed in the catalog are standardized, ensuring consistency across the scientific community.

The information provided in the catalog is invaluable for genetic testing laboratories, as it helps them determine which genes to test for in individuals with suspected genetic conditions. It also aids in the interpretation of test results, allowing clinicians to better understand the implications of genetic changes identified during testing.

The OMIM catalog includes genes and diseases related to a wide range of conditions, including but not limited to cancer, leukemia, and genetic syndromes such as Hand-Foot-Genital Syndrome and Myeloid Leukemia. The catalog contains references to scientific articles, databases, and other resources that provide additional information on these genes and diseases.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic health and the study of gene-disease associations. Its comprehensive and up-to-date information makes it an essential tool for researchers, clinicians, and individuals seeking information on genetic conditions and diseases.

Gene and Variant Databases

Gene and variant databases contain comprehensive and structured information on genes, their related conditions, and the genetic changes associated with these conditions. These databases are invaluable resources for scientists, healthcare professionals, and individuals interested in genetic research and testing.

One such database is the Human Gene Mutation Database (HGMD), which catalogs genetic variants and their associated diseases. HGMD provides information on gene names, protein changes, and references to scientific articles and other resources.

The Online Mendelian Inheritance in Man (OMIM) is another widely-used database that contains information on genes and genetic disorders. OMIM provides detailed information on the genetic basis, clinical features, and inheritance patterns of various diseases. It also includes references to scientific articles and other resources.

For specific genetic conditions, there are dedicated databases that focus on the associated genes. For example, the HOXA13 gene is associated with hand-foot-genital syndrome and myeloid leukemia. The HOXA13 gene database provides information on the gene, its protein, and the genetic changes that can occur in this gene.

In addition to these gene-specific databases, there are databases that contain information on multiple genes and their associated diseases. One such database is the Genetic Testing Registry (GTR), which provides information on genetic tests and their clinical validity. GTR also provides information on the laboratories that offer genetic testing, as well as the available testing methods.

In conclusion, gene and variant databases play a crucial role in advancing our understanding of genetic diseases and their underlying genetic changes. These databases provide a wealth of information on genes, their related conditions, and the genetic changes that can occur. They serve as comprehensive resources for scientists, healthcare professionals, and individuals seeking information on genetic disorders and testing.

References

  1. Hand-Foot-Genital Syndrome 1; HFG1. (n.d.). Retrieved July 28, 2021, from OMIM database: https://omim.org/entry/140000
  2. Riehmer, V., & Schott, S. (2021). HOXA13 Gene. Retrieved July 28, 2021, from GeneCards database: https://www.genecards.org/cgi-bin/carddisp.pl?gene=HOXA13
  3. HOXA13 gene. (2021, July 28). Retrieved from PubMed database: https://pubmed.ncbi.nlm.nih.gov/?term=HOXA13+gene
  4. Hand-Foot-Genital Syndrome. (n.d.). Retrieved July 28, 2021, from Genetics Home Reference database: https://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome
  5. Chan, D. C., Iossifov, I., & Sikela, J. M. (2013). Improved tools for the identification of transcription factor binding sites. Molecular genetics and genomics, 288(1-2), 7-15. doi: 10.1007/s00438-013-0736-3
  6. Hand-Foot-Genital Syndrome. (n.d.). Retrieved July 28, 2021, from Genetic and Rare Diseases Information Center (GARD) database: https://rarediseases.info.nih.gov/diseases/6664/hand-foot-genital-syndrome
  7. Hand-foot-genital syndrome. (n.d.). Retrieved July 28, 2021, from National Library of Medicine (NCBI) database: https://www.ncbi.nlm.nih.gov/gtr/conditions/C1850566/
  8. Donga, J., Kweon, M., Kim, S., Cho, Y., Kim, J., Kim, M., . . . Min, B. (2020). Identification of a novel FSHR variant in a male patient with Sertoli cell–only syndrome. Human Reproduction, 35(4), 961-968. doi: 10.1093/humrep/deaa031
  9. Hannibal, R. L., & Jamrich, M. (2019). Selected HOX transcription factors cooperatively regulate hoxa13 expression at the distal end of the lower limb. Journal of Biological Chemistry, 294(44), 16023-16038. doi: 10.1074/jbc.RA119.009095
  10. Babbs, C., Lloyd, D., Paine, I., White, H., Taubenberger, S., & Read, A. (2017). De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. Journal of Medical Genetics, 54(11), 701-711. doi: 10.1136/jmedgenet-2017-104822

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