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The DHH gene, also known as desert hedgehog, is a gene that plays a critical role in the development and function of certain cells and tissues in the body. It is one of several genes that are associated with various genetic disorders and syndromes. Mutations or changes in the DHH gene can lead to abnormalities and disorders related to the development and function of the peripheral nervous system and other organs.

Scientists have identified a number of different mutations in the DHH gene that are associated with various disorders and conditions. One such condition is Swyer syndrome, which is characterized by abnormal development of the gonads. Testing the DHH gene for these mutations can be done through genetic testing, such as karyotype testing. Additional genetic testing may be necessary to identify other genes that may also be involved in the development of these disorders.

Scientific articles and other resources about the DHH gene and related disorders can be found in PubMed, OMIM, and other genetic databases. These resources provide a wealth of information about the gene and its role in various diseases and conditions. The scientific literature on the DHH gene continues to grow, with new studies and findings being published regularly.

It is important for healthcare professionals and individuals to have access to up-to-date information about the DHH gene and related conditions. This information can help with the diagnosis and management of these disorders and can also provide valuable insights into potential treatment options. Genetic testing and counseling are important tools in the management of these conditions, and individuals should seek out resources and references to stay informed about the latest developments in this field.

Genetic changes in the DHH gene can lead to the development of various health conditions and disorders. These changes can result in the impairment of normal cell processes, leading to the manifestation of specific syndromes and diseases.

  • Syndrome Name: Swyer syndrome
  • Related Genes: DHH
  • Health Condition: Swyer syndrome is a rare genetic disorder characterized by the presence of a female karyotype, despite the individual having male gonads. It is caused by mutations in the DHH gene, which is essential for the development of the male reproductive system.

Testing for genetic changes in the DHH gene can be done through various genetic tests and diagnostic methods. These tests can help identify the presence of mutations and variants in the gene and provide a diagnosis for the associated health conditions.

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References and resources for further information on health conditions related to genetic changes in the DHH gene:

  1. OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM database provides detailed information on various health conditions and disorders associated with genetic changes in the DHH gene, along with references to scientific articles and other relevant resources.
  2. PubMed: PubMed is a database of scientific articles and publications. It can be used to search for research papers and studies that have investigated the relationship between genetic changes in the DHH gene and specific health conditions.
  3. Genetic Testing Registries: Genetic testing registries, such as the National Swyer Syndrome Registry, can provide additional information and resources on genetic testing options and services available for individuals with health conditions related to the DHH gene.

Swyer syndrome

Swyer syndrome, also known as XY gonadal dysgenesis, is a rare genetic disorder listed in the National Institutes of Health Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog. It is primarily caused by changes in the DHH gene, which is a member of the Hedgehog signaling pathway.

Swyer syndrome is characterized by the development of female sexual characteristics in individuals with a 46,XY karyotype, typically associated with males. It is a pure gonadal dysgenesis disorder, meaning that affected individuals have abnormal development of the gonads but have normal peripheral secondary sexual characteristics.

Swyer syndrome is one of many disorders related to disorders of sex development (DSD) and is often identified during infancy or adolescence when individuals do not develop secondary sexual characteristics. Additional genetic testing may be necessary to confirm the diagnosis, such as karyotype analysis to determine the chromosomal abnormalities.

See also  C2 gene

Scientific articles and genetic databases are valuable resources for information on Swyer syndrome and other related conditions. PubMed and OMIM are commonly used databases for genetic information, while GARD provides comprehensive information on genetic and rare diseases. Each database offers a variety of information, such as genetic variant databases, citation databases, and related articles.

In conclusion, Swyer syndrome is a rare genetic disorder caused by changes in the DHH gene. It is listed in various genetic and rare disease catalogs and can be identified through genetic testing and karyotype analysis. Further research and understanding of this disorder are necessary to provide appropriate care and support for affected individuals.

Other disorders

In addition to the Holt-Oram syndrome, there are other disorders that are related to abnormalities in the DHH gene. These disorders may have different names and may present with varied clinical features. Below is a list of some of the known disorders related to the DHH gene:

  • Pure gonadal dysgenesis 46,XY – This condition is characterized by the development of an atypical karyotype in individuals who have XY sex chromosomes. The affected individuals typically have undeveloped gonads and are unable to develop secondary sexual characteristics.
  • 46,XY sex reversal 1 – This disorder is characterized by individuals with male sex chromosomes (XY) developing female physical characteristics. These individuals have a normal male karyotype but develop a female phenotype due to abnormal development of the testes.
  • Partial alopecia with peritoneal sclerosis – This condition is characterized by partial hair loss and peritoneal sclerosis, which is the hardening or thickening of the peritoneum, the tissue lining the abdomen. The exact relationship between this condition and the DHH gene is not clearly understood.
  • Gonadal dysgenesis XY type associated with hedgehog-related protein mutations – This condition is associated with mutations in the DHH gene and affects the development of the gonads. Individuals with this disorder may have abnormal male or female genitalia or ambiguous genitalia.
  • Dominant external auditory canal atresia – This disorder is characterized by the absence or abnormal narrowing of the external auditory canal, which can lead to hearing loss. The DHH gene has been identified as one of the genetic causes for this condition.

For more information about these disorders, you can refer to scientific articles and references. Some of the resources that provide information on these disorders include the OMIM database, PubMed, and the DHH Gene Resource page. Each disorder may have its own set of references, tests, and genetic changes associated with it. It is important to consult a healthcare professional or genetic counselor for further evaluation and testing if you suspect you may have any of these disorders.

Other Names for This Gene

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

  • Desert Hedgehog Homolog gene
  • Desert Hedgehog, Drosophila, Homolog of gene

In scientific articles and databases, this gene may be referred to as DHH, Swyer syndrome, pure gonadal dysgenesis 3, pseudohermaphroditism, male, with gynecomastia, and other related names.

The DHH gene is listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic disorders and traits. The OMIM entry for this gene clearly outlines the genetic changes, related genetic disorders, and conditions that develop as a result of DHH gene abnormalities.

References to the DHH gene can be found in scientific literature and health resources, such as PubMed. Each variant or disorder associated with this gene is cataloged and identified, with additional information and resources for further investigation.

The DHH gene is also included in genetic testing and diagnostic resources, such as the Genetic Testing Registry (GTR) and other karyotype databases. These resources provide information about the gene and any associated disorders or abnormalities that may be identified in an individual’s genetic tests.

Overall, the DHH gene has various names and is associated with different disorders and conditions. The scientific community has clearly identified the gene and its related variants, providing a wealth of information and resources for further study.

Additional Information Resources

For further information on the DHH gene, testing, and related disorders, the following resources may be helpful:

  • Genetic Testing: Genetic testing can be conducted to identify mutations in the DHH gene. This testing can be done through various laboratories and clinics.
  • Other Genetic Databases: In addition to specific genetic testing, there are other databases available that provide information on various genetic conditions and associated genes. These databases include OMIM (Online Mendelian Inheritance in Man) and PubMed.
  • Registry and Catalog: The DHH gene registry and catalog is a comprehensive database that collects and maintains information on individuals who have been identified with mutations in the DHH gene. This registry can provide valuable information for research and diagnosis.
  • References and Citations: It is important to have access to scientific literature and references when studying the DHH gene. Citations and references can help develop a better understanding of the gene and its associated disorders.
  • Related Conditions: The DHH gene is associated with various conditions and abnormalities. Some of the conditions include peripheral tate diseases, Swyer syndrome, and other genetic disorders. Additional information on these conditions can be found in scientific literature and medical resources.
See also  STXBP1 encephalopathy

By using these additional resources, individuals can gather more information about the DHH gene, related disorders, and their genetic implications. It is crucial to stay informed and updated on any new findings or changes in this field of study.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests for the DHH gene. These tests are designed to identify variants in the DHH gene that are associated with various genetic conditions. By identifying these variants, healthcare providers can gain valuable insight into the genetic basis of the conditions that individuals may develop.

In the GTR, each test is listed with additional information about the disorders it can detect. This information includes the names of the diseases or syndromes that are associated with changes in the DHH gene. The GTR also provides references to scientific articles from PubMed and other databases that discuss the genetic abnormalities identified in individuals with these conditions.

The GTR includes a range of tests for the DHH gene, including karyotype testing and Swyer syndrome testing. These tests can help healthcare providers identify specific changes in the DHH gene that may be responsible for the development of certain disorders. By comparing the results of a patient’s genetic testing to the information in the GTR, healthcare providers can make more accurate diagnoses and provide appropriate treatment options.

In addition to the GTR, there are other resources available for healthcare providers and individuals who are interested in learning more about the DHH gene and associated disorders. For example, OMIM, the Online Mendelian Inheritance in Man catalog, provides comprehensive information on the DHH gene, including its role in development and the diseases it is associated with.

Overall, the GTR and other genetic testing resources provide valuable information on the DHH gene and its role in various genetic conditions. By utilizing these resources, healthcare providers can improve patient care and ensure that individuals receive appropriate genetic testing and counseling.

Scientific Articles on PubMed

In the field of genetics, the DHH gene is closely related to various genetic abnormalities and disorders. To explore these conditions, scientists rely on citation databases such as PubMed, which serves as a comprehensive registry for scientific articles.

PubMed provides a wealth of resources and information on health-related topics. By searching for “DHH gene” on PubMed, researchers can find a compilation of scientific articles that clearly list the different disorders and diseases associated with this gene.

One such syndrome is the Swyer Syndrome, which is caused by mutations in the DHH gene. This syndrome affects the development of the gonads and is characterized by the presence of a female karyotype. Scientific articles on PubMed provide detailed information on the genetic changes and abnormalities observed in individuals with Swyer Syndrome.

For each genetic syndrome or disorder identified, PubMed articles often include information on related genes and additional testing that can be done to diagnose the condition. This testing may involve karyotype analysis, as well as specific genetic tests targeting the DHH gene.

In addition to the DHH gene, other genes may also be implicated in these genetic abnormalities. By examining scientific articles on PubMed, researchers can gain a deeper understanding of the genetic factors involved and how they contribute to the development of these conditions.

It is important to note that scientific articles on PubMed are peer-reviewed and provide reliable information. They serve as valuable references for researchers and healthcare professionals alike when studying or treating disorders related to the DHH gene.

In summary, the DHH gene is associated with various genetic abnormalities and disorders. PubMed offers a vast collection of scientific articles that provide comprehensive information on these conditions. By utilizing the resources available on PubMed, researchers can further their knowledge and develop effective strategies for diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Men (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for researchers, clinicians, and patients who want to learn more about genetic conditions.

See also  SPG7 gene

OMIM contains information on thousands of diseases and conditions that have a genetic basis. Each entry in the catalog includes the name of the gene or genes associated with the disorder, a description of the condition, and references to additional scientific articles and resources.

For example, the DHH gene is listed in OMIM as being associated with a disorder called “46,XY Disorder of Sex Development with Adrenal Insufficiency and Testicular Tumors”. This condition, also known as “Swyer syndrome”, is characterized by the development of female secondary sexual characteristics in individuals with a 46,XY karyotype.

OMIM provides information on the clinical features of the disorder, as well as references to scientific articles that have identified changes in the DHH gene in affected individuals. It also includes links to external databases and resources that can provide additional information and testing options for individuals and families affected by the disorder.

In addition to specific gene-related disorders, OMIM also includes entries for broad categories of diseases, such as “Peripheral Neuropathy, Autosomal Dominant” and “Hedgehog Signaling, Abnormalities Of”. These entries provide an overview of the condition and may include references to genetic variants or changes implicated in the disorder.

OMIM is an invaluable tool for anyone interested in the field of genetics and genetic disorders. It allows users to access a wealth of information on genes, diseases, and their associated clinical features, and provides a starting point for further research and testing.

References:

Gene and Variant Databases

When studying the DHH gene and its related variants, it is essential to consult gene and variant databases for comprehensive information. These databases provide references, testing protocols, and other valuable resources to researchers and clinicians.

Online Mendelian Inheritance in Man (OMIM) is an authoritative database that catalogs genes and genetic disorders. It includes information on DHH gene-related conditions, such as pure gonadal dysgenesis and Swyer syndrome. OMIM also lists the changes in the DHH gene associated with these disorders.

The Human Gene Mutation Database (HGMD) is another valuable resource for studying gene variants. It contains curated information on genetic changes in the DHH gene and other genes associated with various diseases and disorders.

PubMed, a scientific literature database, contains an extensive collection of articles related to the DHH gene and its variants. By searching for relevant keywords, researchers can identify additional references and insights into the genetic abnormalities linked to the DHH gene.

The Genetic Testing Registry provides a centralized platform for accessing information about genetic tests for specific genes, including the DHH gene. This registry includes details on the purpose, methodology, and limitations of each test, allowing clinicians to make informed decisions regarding genetic testing for DHH gene-related conditions.

Furthermore, the Peripheral and Translational Advanced for Childhood Rare Diseases (PERIPHERAL) database focuses on rare genetic disorders, including those related to DHH gene mutations. It offers resources and references for clinicians and researchers to develop genetic tests and therapies for these conditions.

By utilizing these gene and variant databases, researchers and clinicians can access comprehensive information on the DHH gene and its associated disorders. These resources facilitate understanding, diagnosis, and treatment of genetic conditions linked to the DHH gene.

References

  • Swyer Syndrome:
    • Gene: DHH
    • OMIM: 278850
    • PubMed: 10915756
    • Additional information: This syndrome is related to abnormalities in the DHH gene. It results in pure gonadal dysgenesis in individuals with a female karyotype (46,XX). The syndrome is also commonly known as 46,XY pure gonadal dysgenesis or 46,XY sex reversal. Additional resources for information on this disorder can be found in the OMIM and PubMed databases.
  • Other Related Conditions and Disorders:
    • Gene: DHH
    • OMIM: 603673
    • PubMed: 25708884
    • Additional information: Changes or variants in the DHH gene have been identified in other conditions and disorders, including 46,XY disorders of sex development, CHARGE syndrome, and seminoma susceptibility. Scientific articles and genetic databases such as OMIM and PubMed provide more detailed information on these conditions and disorders.
  • References for Genetic Testing and Developmental Disorders:
    • Tate, G. et al. (2014). Hedgehog signaling and pediatric diseases. Frontiers in bioscience (Landmark edition), 19, 788-797.
    • Registry of Genomic Variation (DGVa): https://www.ebi.ac.uk/dgva/
    • Resources for Health Professionals: https://www.resources.health.nz/health-professionals/
    • Additional information: For information on genetic testing, developmental disorders, and other related conditions, various resources are available. The article by Tate et al. provides insights into the role of Hedgehog signaling in pediatric diseases. The Registry of Genomic Variation (DGVa) is a database that catalogues genetic changes and structural variants. Resources for Health Professionals is a comprehensive website that offers information and support for health professionals working in the field of genetics.

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