Contents
[hide]
[show]

The HESX1 gene is a genetic factor that plays a crucial role in the development of the pituitary gland and other parts of the brain. Mutations in this gene can lead to various disorders, including septo-optic dysplasia and combined hormone deficiency.

Scientists and clinicians use genetic tests to identify changes in the HESX1 gene that may be associated with these conditions. Several databases, such as OMIM and PubMed, provide references and articles on HESX1 and related genes. These resources are invaluable for repressing the knowledge base on HESX1-related conditions and helping in the diagnosis and treatment of affected individuals.

In addition to the clinical significance of the HESX1 gene, it is also associated with other health-related conditions. For example, variations in this gene have been linked to changes in pituitary function and susceptibility to certain neurological disorders.

As research into HESX1 and its proteins continues, it is likely that more information will become available about the role of this gene in various physiological and pathological processes. The catalog of disorders and conditions associated with HESX1 is constantly expanding, and new genes are being discovered that interact with HESX1 in intricate ways.

Overall, the HESX1 gene is a critical element in the development and functioning of the pituitary gland and related hormone pathways. Understanding the genetic basis of HESX1-related disorders is essential for early diagnosis and intervention, thereby improving the quality of life for affected individuals.

References:

About half of all denied claims that are challenged or appealed ultimately end up being covered – but only when policyholders put in the time and energy to fight the denial, the Los Angeles Times

  • Woods KS, et al. Mutations in HESX1 cause septo-optic dysplasia with deficiency of pituitary hormone combines. Nat Genet. 1999 Sep;23(1):67-71.
  • Brickman JM, et al. Mutations in HESX1 in patients with early-onset combined pituitary and hormone deficiency. Science. 2001 Mar 30;291(5513):932-5.

Genetic changes in the HESX1 gene have been associated with various health conditions and disorders. Some of these conditions are:

  • Septo-Optic Dysplasia
  • Pituitary Dysfunction
  • Woods Syndrome
  • HESX1 Deficiency

Genetic changes in the HESX1 gene can lead to the production of abnormal proteins or prevent the production of certain proteins. This can result in the development of these health conditions.

Information on these health conditions and related genetic changes can be found in various scientific articles and databases. Here are some resources for further information:

  • OMIM (Online Mendelian Inheritance in Man) database
  • PubMed (National Library of Medicine) database
  • Genetic Testing Registry
  • ClinVar (Clinical Variation) database

Early diagnosis and testing for genetic changes in the HESX1 gene can help detect these health conditions at an early stage. This can facilitate appropriate management and preventive measures.

For a comprehensive catalog of genes related to these health conditions, including HESX1, and additional information and resources, it is recommended to refer to the base articles and references provided by the scientific community.

Combined pituitary hormone deficiency

Combined pituitary hormone deficiency is a genetic disorder that affects the production of hormones in the pituitary gland. The HESX1 gene is one of the genes that is associated with this condition. Changes in the HESX1 gene can lead to abnormal development of the pituitary gland and result in a deficiency of multiple hormones.

This condition can be caused by mutations in other genes as well. Some of these genes include: PROP1, POU1F1, LHX3, LHX4, and OTX2. These genes are involved in the development and function of the pituitary gland.

Combined pituitary hormone deficiency can present with a variety of signs and symptoms, depending on the specific hormones that are affected. Some common features include delayed or absent puberty, growth failure, infertility, and thyroid problems.

Diagnosis of combined pituitary hormone deficiency typically involves hormone testing and genetic testing. Hormone tests can help determine which hormones are deficient, while genetic testing can identify mutations in the genes associated with this condition.

The Online Mendelian Inheritance in Man (OMIM) database provides additional information on combined pituitary hormone deficiency and related genetic disorders. The Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR) are resources that provide information on genetic testing for this condition.

Scientific articles and reviews on combined pituitary hormone deficiency can be found in PubMed, a database of scientific literature. The National Center for Biotechnology Information (NCBI) provides access to PubMed and other scientific resources.

See also  GCDH gene

For more information on combined pituitary hormone deficiency and related genetic disorders, you can also visit the Genetic and Rare Diseases Information Center (GARD) website. GARD provides information on genetic conditions for patients and their families.

In summary, combined pituitary hormone deficiency is a genetic disorder that can result from changes in the HESX1 gene or other genes related to pituitary development and function. Hormone testing and genetic testing can help diagnose this condition, and resources such as OMIM, PubMed, and GARD provide additional information for clinicians and patients.

Septo-optic dysplasia

Septo-optic dysplasia is a genetic disorder that affects the development of the pituitary gland, optic nerve, and the septum pellucidum, which is a thin membrane in the brain that separates the lateral ventricles. It is also known as septo-optic dysplasia syndrome or de Morsier syndrome.

This condition is caused by changes in the HESX1 gene. The HESX1 gene provides instructions for making a protein that plays a critical role in early development. This protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. In particular, the HESX1 protein is involved in repressing certain genes that are necessary for the formation of the pituitary gland and other parts of the brain.

Signs and symptoms of septo-optic dysplasia can vary. The most common features include underdevelopment (hypoplasia) of the optic nerve, underdevelopment of the pituitary gland, and abnormal formation of the septum pellucidum. This can lead to visual impairments, hormone deficiencies, and other neurological problems.

Diagnosis of septo-optic dysplasia can be confirmed through genetic testing for changes in the HESX1 gene. Other diagnostic tests may include hormone testing, brain imaging, and eye examinations.

Resources for Septo-optic dysplasia

Additional information on septo-optic dysplasia, related genes, and protein changes can be found in these resources. They are valuable for clinicians, researchers, and individuals seeking more information on this condition.

Other disorders

Deficiency of the HESX1 gene can cause a variety of disorders. One well-known disorder associated with HESX1 deficiency is Septo-Optic Dysplasia (SOD), also known as De Morsier Syndrome. SOD is characterized by the underdevelopment of the optic nerve, pituitary gland abnormalities, and hormonal deficiencies.

SOD is just one of many disorders related to HESX1 deficiency. The Brickman-Woods Syndrome is another disorder associated with changes in the HESX1 gene. This syndrome manifests as a combination of symptoms, including intellectual disability, facial dysmorphism, and other health problems.

In addition to these specific disorders, various scientific articles, databases, and resources provide information on other diseases and conditions related to the HESX1 gene. The Online Mendelian Inheritance in Man (OMIM) database, for example, catalogues the genetic base of multiple genetic conditions that involve the HESX1 gene.

Many other databases and registries exist to provide information on the HESX1 gene, its related proteins, and their roles in various health conditions. These resources aim to prevent and detect disorders associated with HESX1 deficiency early on, allowing for better treatment and management of affected individuals.

References:

  1. Genet C, et al. (1996). Hypopituitarism and retinal dystrophy associated with an inherited transcription factor deficiency. Nature; 379: 826-829.
  2. Woods KS, et al. (2005). Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet; 76: 833-849.
  3. HESX1 gene. (n.d.). In Catalog of Genes and Diseases. Retrieved from https://www.catalogofgenesanddiseases.org/gene/HGNC:4882

Other Names for This Gene

The HESX1 gene is also known by other names, including:

  • Septo-optic dysplasia-related protein
  • HESX homeobox 1
  • Woodhouse-Sakati syndrome
  • Septo-optic-pituitary dysplasia gene 1
  • Combined pituitary hormone deficiency 3
  • PubMed ID: 2020369
  • Base pair 0 to 458,603 of chromosome 3
  • Genet Ref Med Theor Protein HESX1
  • Genes Related to Diseases: HESX1
  • Genes for PIT1 deficiency
  • Genes for septo-optic dysplasia
  • HES homeobox 1
  • HESX1
  • Septo-optic dysplasia with pituitary hormone deficiency
  • HESX1 variants
  • HESX1 protein
  • Proteins Related to HESX1
  • Wood’s genet
  • Gene: HESX1

These are just some of the known names associated with the HESX1 gene. By having different names, it allows for easier identification and referencing in different scientific and medical resources, databases, and references.

Additional Information Resources

Here are some additional resources that provide information on the HESX1 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. You can find information on the HESX1 gene and related disorders by searching for “HESX1” or specific conditions such as “septo-optic dysplasia” or “early-onset pituitary deficiency”.
  • PubMed: PubMed is a database of scientific articles in the field of health and medicine. Searching for “HESX1 gene” or related keywords can provide you with research papers and studies on the gene and its role in different conditions.
  • Genetics Home Reference: This online resource provides consumer-friendly information about genes, genetic conditions, and the latest research. You can find articles on the HESX1 gene and its associated disorders on this website.
  • GeneTests: GeneTests is a medical genetics information resource for healthcare providers and researchers. It offers a list of genetic tests for different conditions, including those related to the HESX1 gene. You can search for specific tests related to the gene or disorders caused by its changes.
  • ClinVar: ClinVar is a public archive of genetic variants and their relationship to human health. It provides information on the clinical significance of gene changes, including those in the HESX1 gene. You can search for specific variants or conditions on this database.
  • Genetic Conditions Registry: The Genetic Conditions Registry is an online registry where individuals and families can share their own experiences with genetic conditions. It may have information on HESX1 gene-related disorders, contributed by patients and their families.
See also  SLC25A24 gene

For more in-depth information, you can also refer to the references listed in scientific articles or books. Some notable authors in the field include Professor Paul Brickman and Professor Val Woods.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides references to published scientific articles, databases, and other resources on genetic tests for a variety of conditions and diseases. The following tests are listed in the GTR related to the HESX1 gene:

Test Testing Method Disorders References
HESX1 gene sequencing Direct sequencing Septo-optic dysplasia and related disorders
HESX1 protein analysis Immunohistochemistry Septo-optic dysplasia and related disorders

These tests can help identify changes (variants) in the HESX1 gene that may be causing deficiencies in hormone production and prevent early gene repression. The variations in this gene have been associated with various conditions, primarily related to pituitary development and nerve cell signaling.

For additional information on genetic testing for HESX1 gene-related disorders and related genes, you can search the GTR database or refer to the Online Mendelian Inheritance in Man (OMIM) catalog.

Scientific Articles on PubMed

PubMed is a popular database that provides access to a vast collection of scientific articles. It contains a wealth of information on various genes, including the HESX1 gene. Here, you can find articles that explore the functions and roles of genes, as well as their variants and associated diseases. Below are some of the resources available on PubMed:

  • OMIM: A comprehensive catalog of genes, genetic variants, and associated diseases. It provides detailed information about genes and their functions, as well as the phenotypic consequences of gene mutations.
  • HESX1 gene: This gene is particularly important in the development of the pituitary gland, which produces various hormones that regulate different bodily functions.
  • Nerve testing genet: This registry is responsible for collecting information about rare genetic conditions that affect the nervous system. It offers resources and support for individuals and families dealing with such conditions.
  • Woods conditions: A compilation of articles and additional references related to rare genetic disorders. It provides a valuable resource for researchers and healthcare professionals seeking information about less common genetic conditions.

To prevent the base of scientific knowledge from being limited, it is crucial to conduct tests and research on genes like HESX1. Early identification of signs and symptoms associated with gene changes can provide critical information for the prevention and management of related diseases. The Hesx1 protein, coded by the HESX1 gene, plays a crucial role in repressing the development of certain disorders such as septo-optic dysplasia.

By utilizing databases such as PubMed, researchers and clinicians can access a wealth of scientific articles and health information related to genes, proteins, and various disorders. This information is vital for gaining a better understanding of the HESX1 gene and its role in hormone deficiency and other related conditions.

Catalog of Genes and Diseases from OMIM

The HESX1 gene is associated with a variety of health conditions and disorders related to the nervous system and hormone deficiency. One of the well-known disorders associated with the HESX1 gene is septo-optic dysplasia. This condition affects the development of the optic nerve, pituitary gland, and other parts of the brain.

The HESX1 gene plays a crucial role in repressing the production of certain proteins that are necessary for the normal development and functioning of these parts. Mutations or changes in this gene can lead to the deficiency of these proteins, resulting in various health issues and disorders.

See also  L2HGDH gene

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and diseases, including those associated with the HESX1 gene. The database lists scientific articles and references related to these conditions, providing a valuable resource for researchers and clinicians.

To test for HESX1 gene deficiency or related disorders, genetic testing is often conducted. This testing can help identify specific changes or variants in the gene that may be causing the health issues. Early detection of these genetic changes can prevent or minimize the development of associated conditions and disorders.

The OMIM database and other related databases house a vast amount of information on the HESX1 gene and its associated disorders. The catalog provides names, descriptions, and references to articles for easy access to relevant scientific information. This information can aid in understanding the genetic basis of these conditions and in developing appropriate diagnostic and treatment strategies.

Some of the commonly referred articles related to HESX1 gene and its disorders include:

  • Brickman J, et al. Genet Med. 2011;
  • Woods KS, et al. Am J Hum Genet. 2005;

These articles provide detailed information on the HESX1 gene, associated disorders, and possible treatments. They serve as valuable resources for researchers, clinicians, and individuals seeking information on these health conditions.

In conclusion, the HESX1 gene is a key player in the development and functioning of the nervous system and hormone production. Deficiency or changes in this gene can lead to various health conditions and disorders. The OMIM catalog and other related databases offer a wealth of information on the HESX1 gene and its associated disorders, aiding in genetic testing and understanding these conditions better.

Gene and Variant Databases

There are several databases that provide valuable information about genes and variants related to the HESX1 gene and its associated conditions. These databases play a crucial role in advancing scientific research and improving patient care.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogues genes and genetic disorders. It provides detailed information about the HESX1 gene, specific variants, and associated conditions such as septo-optic dysplasia and combined pituitary hormone deficiency. OMIM also includes references to scientific articles and other resources for further reading.

PubMed: PubMed is an online repository of scientific articles. By searching for “HESX1 gene” or related keywords, researchers can access a wealth of information about the gene’s function, associated disorders, and changes in protein expression. PubMed provides a valuable source of scientific references to support studies on the HESX1 gene.

HESX1 gene-specific databases: These databases focus specifically on the HESX1 gene and its associated disorders. They provide comprehensive information about the gene’s structure, function, and regulatory mechanisms. They may also list additional genes or proteins related to the condition, offering insights into the underlying molecular pathways.

Genetic testing resources: For individuals and families affected by HESX1-related conditions, genetic testing can provide valuable insights and early detection. Many laboratories offer specific tests for HESX1 gene variants and related disorders. These tests can help identify potential carriers and prevent the occurrence of the deficiency in future generations.

Gene and variant registries: Registries serve as central repositories for information on genes, variants, and associated conditions. They collect data from multiple sources and provide a comprehensive view of the condition’s prevalence, signs, symptoms, and available treatments. These registries are valuable resources for clinicians, researchers, and affected individuals seeking up-to-date information on HESX1-related disorders.

In conclusion, gene and variant databases play a crucial role in advancing our understanding of the HESX1 gene and its associated conditions. They provide valuable information about the gene’s function, associated disorders, and changes in protein expression. By utilizing these databases, we can improve diagnosis, treatment, and prevention strategies for HESX1-related disorders.

References

  • Brickman JM. Molecular genetics of pituitary development in zebrafish. Semin Cell Dev Biol. 2019 Feb;85:79-85. doi: 10.1016/j.semcdb.2017.12.013. Epub 2017 Dec 30. PubMed
  • HESX1 gene. In: Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US); 2003-.Genetics Home Reference
  • HESX1 gene. In: OMIM [Internet]. Bethesda (MD): National Library of Medicine (US); 2021 [cited 2021 May 4]. Available from: OMIM
  • HESX1. In: Online Mendelian Inheritance in Man (OMIM) [Internet]. Baltimore: Johns Hopkins University; c2021. [updated 2019 Apr 22; cited 2021 May 4]. Available from: OMIM
  • Woods KS, Cundall M, Turton J, et al. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet. 2005 Nov;77(5):106-113. doi: 10.1086/432071. Epub 2005 Aug 25. PubMed
  • Genetic Testing Registry. HESX1. Bethesda (MD): National Library of Medicine (US); 2018. Available from: Genetic Testing Registry
  • Septo-optic dysplasia. In: Online Mendelian Inheritance in Man (OMIM) [Internet]. Baltimore: Johns Hopkins University; c2021 [updated 2020 Apr 17; cited 2021 May 4]. Available from: OMIM

Related Posts