The SOX10 gene, also known as the SRY-Box Transcription Factor 10, is a gene that plays a central role in the development and function of certain cells in the body. It is located on chromosome 22q13.1 and is involved in regulating the activity of other genes and proteins.

Changes or mutations in the SOX10 gene can lead to various genetic conditions, including Hirschsprung disease, Waardenburg-Shah syndrome, Kallmann syndrome, and other related disorders. These conditions are characterized by specific changes in the coloring, structure, or function of certain parts of the body.

The SOX10 gene has been extensively studied, and there are many scientific articles and references available on this gene. The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the various diseases and conditions associated with SOX10 gene mutations. The Genetic Testing Registry (GTR) also provides information on available genetic tests for detecting these mutations.

For those interested in more detailed information on the SOX10 gene and its associated disorders, there are several resources available. The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genes and genetic variants, with links to references in PubMed. The NCBI also provides health information on different diseases and conditions related to the SOX10 gene. Additionally, scientific journals and articles often publish research and analysis on the genetic basis of these diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the SOX10 gene can lead to various health conditions. Some of the conditions associated with genetic changes in this gene include:

• Hirschsprung disease
• Kallmann syndrome
• Waardenburg-Shah syndrome

Hirschsprung disease is a disorder that affects the colon and is characterized by the absence of nerve cells in certain parts of the intestine. Genetic testing can identify changes in the SOX10 gene associated with this condition.

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Kallmann syndrome is a disorder that affects hormone production and can cause delays or absence of puberty. Changes in the SOX10 gene have been found in some individuals with this syndrome.

Waardenburg-Shah syndrome is a rare genetic disorder that affects the coloring of the hair, skin, and eyes. Changes in the SOX10 gene are associated with this syndrome.

Information about these and other health conditions related to genetic changes in the SOX10 gene can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, genetic conditions, and related proteins. The Genetic Testing Registry (GTR) provides information about genetic tests for specific diseases and conditions. Scientific articles and references can be found in databases such as PubMed.

To learn more about these health conditions and to find resources for genetic testing and analysis of the SOX10 gene variant, refer to the following sources:

• Online Mendelian Inheritance in Man (OMIM): This database provides detailed information about genes, genetic conditions, and related proteins. Visit www.omim.org for more information.
• Genetic Testing Registry (GTR): This resource provides information about genetic tests for specific diseases and conditions. Visit www.ncbi.nlm.nih.gov/gtr for more information.
• PubMed: This database contains scientific articles and references related to health, genetics, and diseases. Visit www.ncbi.nlm.nih.gov/pubmed for more information.

Waardenburg syndrome

Waardenburg syndrome is a genetic disorder that affects the coloring of a person’s eyes, hair, and skin. It is named after the Dutch ophthalmologist Petrus Johannes Waardenburg, who first identified it in 1951.

There are several types of Waardenburg syndrome, classified based on the specific genetic changes or variants involved. The syndrome is caused by mutations in various genes, such as the SOX10 gene, which plays a critical role in the development of cells called melanocytes that produce pigmentation. Other genes involved in Waardenburg syndrome include PAX3 and MITF.

Waardenburg syndrome can affect different parts of the body, leading to various symptoms. It is characterized by hearing loss, changes in pigmentation, and in some cases, additional abnormalities such as Hirschsprung disease or Kallmann syndrome.

Diagnosis of Waardenburg syndrome is often based on clinical evaluation and a thorough medical history. Genetic testing can also be used to confirm the diagnosis and identify specific gene changes or variants. Testing of genes associated with Waardenburg syndrome can be done using various genetic tests, such as DNA sequencing or deletion/duplication analysis.

For additional information about Waardenburg syndrome, genetic testing, and related resources, you can visit the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific databases. These resources provide extensive information on the disorder, including articles, references, and genetic analysis.

Gene	Chromosomal Location	OMIM Registry
SOX10	22q13.1	PS602229
PAX3	2q36.1	PS606597
MITF	3p14.1	PS156845

Waardenburg syndrome is a relatively rare disease, and its prevalence varies in different populations. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, management, and support for individuals and families affected by this condition.

Hirschsprung disease

Hirschsprung disease, also known as congenital intestinal aganglionosis, is a genetic disorder characterized by the absence of ganglia (nerve cells) in the gastrointestinal tract. This results in an inability of the affected segment of the intestine to relax, leading to a blockage that prevents the passage of stool.

The SOX10 gene, along with other genes such as RET, EDNRB, and GDNF, has been implicated in the development and function of the enteric nervous system. Variants in these genes can lead to abnormalities in the migration, proliferation, and survival of neural crest cells, which are precursors to the enteric nervous system.

Hirschsprung disease can occur as an isolated disorder or as part of a genetic syndrome, such as Waardenburg-Shah syndrome. In the waardenburg-shah syndrome, individuals with Hirschsprung disease also exhibit changes in skin, hair, and eye coloring. Testing for variants in the SOX10 gene and other related genes can be used to diagnose Hirschsprung disease and determine its specific genetic cause.

Information about the SOX10 gene, as well as other genes implicated in Hirschsprung disease, can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes, variants, and associated phenotypes related to Hirschsprung disease. PubMed is a valuable resource for accessing articles and references about Hirschsprung disease and related genetic research.

In addition, there are various genetic testing services and resources available for individuals and families affected by Hirschsprung disease. These include the Hirschsprung Disease Genetic Testing Registry, which lists genetic testing labs and available tests for Hirschsprung disease. The National Human Genome Research Institute’s Genetic Testing Registry can also provide information on available genetic tests for Hirschsprung disease and related conditions.

Further information and support can be found through organizations focused on Hirschsprung disease and related genetic syndromes. These organizations often provide resources for genetic counseling, research, and support for individuals and families affected by Hirschsprung disease.

Kallmann syndrome

Kallmann syndrome is a genetic disorder characterized by the absence or incomplete development of puberty and difficulties with sense of smell. It is also known as “olfacto-genital syndrome” or “hypogonadotropic hypogonadism”.

The syndrome is caused by genetic changes in several genes, including the SOX10 gene. The SOX10 gene provides instructions for making a protein that is involved in the development of many different types of cells, including cells that produce coloring (pigmentation) in the skin, hair, and eyes. This gene is also important for the development of cells that produce a hormone called gonadotropin-releasing hormone (GnRH), which is essential for the onset of puberty.

Genetic changes in the SOX10 gene can disrupt the normal functioning of these cells, leading to the symptoms of Kallmann syndrome. Other genes, such as those listed in the OMIM database, are also known to be related to this disorder.

Kallmann syndrome can be diagnosed through genetic testing, which can identify genetic changes in the SOX10 gene and other related genes. These tests are available in various genetic testing laboratories and can be ordered by healthcare professionals.

Additional information and resources on Kallmann syndrome can be found in scientific articles, genetic databases such as OMIM and PubMed, and the central registry for health-related genetic testing.

References:

1. OMIM: Kallmann syndrome
2. PubMed: Kallmann syndrome
3. GeneReviews: Kallmann syndrome

Analysis of genetic changes in the SOX10 gene and other related genes can provide important information for the diagnosis and management of Kallmann syndrome. Genetic counseling and testing can also help identify individuals who are at risk of passing on the disorder to their children.

Other specific conditions that may be associated with Kallmann syndrome include Waardenburg syndrome, Hirschsprung disease, and Waardenburg-Shah syndrome. The genes and genetic changes associated with these conditions may overlap with those involved in Kallmann syndrome.

It is important to note that Kallmann syndrome is a rare disorder, and information on specific genetic changes and associated symptoms may vary. For the most up-to-date and accurate information, it is recommended to consult reputable sources such as scientific articles and genetic databases.

Other Names for This Gene

• variant of SOX10 gene
• SOX10 gene variant
• SOX10 gene registry
• missing version of SOX10 gene
• scientific name for coloring gene
• analysis of SOX10 gene
• conditions caused by changes in SOX10 gene
• other proteins related to SOX10 gene
• disorder gene
• disorder related to SOX10 gene
• additional information on SOX10 gene
• gene information on SOX10 gene
• health information on SOX10 gene
• genetic information on SOX10 gene
• genetic syndrome related to SOX10 gene
• genes similar to SOX10 gene
• tests for SOX10 gene
• OMIM database for SOX10 gene
• Waardenburg-Shah gene
• genetic databases for SOX10 gene
• specific gene listed under SOX10
• central Waardenburg gene
• genes related to Waardenburg-Shah disease
• resources for SOX10 gene
• Hirschsprung variant of SOX10 gene
• genes and regions for Waardenburg-Shah disease
• tests for Kallmann syndrome gene
• Genet catalog for SOX10 gene
• references and articles on SOX10 gene
• disease genes related to SOX10 gene
• parts of SOX10 gene used in testing

Additional Information Resources

Here is a list of additional resources related to the SOX10 gene:

• PubMed: A database of scientific articles related to the topic. You can find more information about the gene and its associated diseases by searching for “SOX10 gene” on PubMed.
• OMIM: Online Mendelian Inheritance in Man is a comprehensive resource for genetic information. You can find information about the SOX10 gene, related diseases, and genetic changes associated with these conditions on OMIM.
• Hirschsprung Disease Genetics Consortium: This consortium focuses on the genetic analysis of Hirschsprung disease, a disorder that can be caused by SOX10 gene variants. Their website provides information about the disease, associated genes, and available genetic tests.
• GeneReviews: This resource provides expert-authored, peer-reviewed articles on various genetic conditions. You can find specific information about the SOX10 gene and related conditions on GeneReviews.
• Online Mendelian Inheritance in Animals: This database is dedicated to cataloging inherited disorders in animals. You can find information about SOX10 gene variants and associated disorders in different animal species on this website.

These resources provide additional information about the SOX10 gene, its functions, associated diseases, testing methods, and more. They can be beneficial for individuals seeking more in-depth knowledge or conducting further research on this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource for information about genetic tests. It provides a catalog of genetic tests, including those related to the SOX10 gene. The GTR contains information about the analysis of specific genes, proteins, and other genetic variants associated with various diseases and disorders.

The GTR lists tests for several conditions related to the SOX10 gene, such as Waardenburg syndrome, Hirschsprung disease, and Waardenburg-Shah syndrome. These tests help in the diagnosis and identification of specific genetic changes or variants in the SOX10 gene.

Each test listed in the GTR includes information about the test, such as its version, the type of analysis performed, and references to scientific articles and databases. The GTR also provides additional resources, such as links to related genes and diseases in OMIM (Online Mendelian Inheritance in Man) and other genetic databases.

Users can search the GTR to find specific tests for the SOX10 gene or browse through the listing of tests for other genes and conditions. The GTR is a valuable tool for healthcare professionals, researchers, and individuals seeking genetic testing for various health conditions. It provides comprehensive and up-to-date information about genetic tests, helping to improve patient care and understanding of genetic diseases.

For more information about tests listed in the Genetic Testing Registry, please visit their website: https://www.ncbi.nlm.nih.gov/gtr/.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the SOX10 gene and its associated genetic disorders. It provides a vast collection of articles that cover various aspects of the gene, including its structure, function, and involvement in different diseases and conditions.

Some of the information that can be found in these articles include:

• Genetic variations and mutations in the SOX10 gene
• Proteins and proteins interactions related to the SOX10 gene
• OMIM database entries for genetic conditions associated with the SOX10 gene
• Registry of genetic tests and testing laboratories for SOX10 gene-related disorders
• References to specific regions of the SOX10 gene in relation to certain conditions (e.g., Waardenburg syndrome, Waardenburg-Shah syndrome, Hirschsprung disease)
• Information on gene expression and analysis of the SOX10 gene in different tissue types
• Centralized resources for genetic health and scientific research related to the SOX10 gene

PubMed articles can provide valuable insights into the SOX10 gene and its role in various genetic disorders and conditions. They can also serve as a basis for further research, as well as a resource for healthcare professionals and genetic testing laboratories.

In addition to articles on PubMed, there are other databases and resources available that offer information on the SOX10 gene and its associated disorders. These include online catalogs for genetic tests, databases for genetic variations, and disease-specific websites that provide information on symptoms, diagnosis, and management strategies for different diseases.

It is important to note that the information provided in scientific articles and databases may be subject to changes as new research and discoveries are made. Therefore, it is always beneficial to consult the latest version of these resources for the most up-to-date information.

Overall, scientific articles available on PubMed and other related resources offer a comprehensive overview of the SOX10 gene, its variants, and the associated genetic disorders. They serve as a valuable tool for researchers, healthcare professionals, and individuals seeking information on these conditions.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive resource that provides information about genes and genetic conditions. It contains a vast catalog of genetic disorders along with associated genes and variant information.

The OMIM database serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding genetic diseases. It offers a wealth of resources, including scientific articles, references, and genetic testing information.

The catalog is organized based on gene-specific and disease-specific information. Users can search for specific genes or diseases to access detailed information regarding their functions, associated disorders, and related syndromes.

The database also contains specific information on variant analysis, genetic testing, and diagnostic methods. OMIM provides references to scientific articles and other resources that can further aid in the understanding of these conditions.

One of the notable genes listed in OMIM is the SOX10 gene, which is associated with various disorders such as Waardenburg syndrome, Waardenburg-Shah syndrome, and Hirschsprung disease. These disorders affect the central nervous system, coloring of the hair, and other parts of the body.

OMIM offers a user-friendly interface that allows users to navigate through different disease categories and genetic regions. The database provides up-to-date information on gene names, variant proteins, and the specific types of tests available for each disorder.

In addition to the basic information provided, OMIM also includes a gene registry, where users can find additional information about specific genes and their functions. The database is constantly updated, ensuring that users have access to the latest scientific findings and advancements in the field of genetics.

Overall, OMIM serves as an invaluable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases. Its comprehensive catalog of genes and diseases, along with references and testing information, makes it a go-to database for anyone interested in the field of genetics and health.

Gene and Variant Databases

Several databases provide valuable information on the SOX10 gene and its variants. These databases serve as reliable resources for researchers, clinicians, and individuals seeking information on genetic diseases related to the SOX10 gene.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SOX10 gene, associated diseases such as Hirschsprung disease, Kallmann syndrome, and Waardenburg syndrome, and references to scientific articles and clinical studies.

Genetic Testing Registry (GTR): GTR is a central registry that provides information on genetic tests and their associated genes, including SOX10. It lists the types of tests available for SOX10 and provides details on testing methods, laboratory names, and other relevant information.

GeneReviews: GeneReviews offers expert-authored articles that provide in-depth information on genetic conditions. It includes articles on SOX10-related disorders such as Waardenburg-Shah syndrome and Central Waardenburg syndrome, covering clinical features, diagnosis, management, and genetic counseling.

PubMed: PubMed is a scientific database that provides access to a vast collection of medical literature. Searching for “SOX10 gene” or specific diseases related to SOX10 can yield valuable research papers, case reports, and other scientific articles.

dbSNP: dbSNP is a database of common and rare genetic variations, including variants in the SOX10 gene. It provides information on specific changes or variations found in different populations and regions.

Human Gene Mutation Database (HGMD): HGMD is a comprehensive collection of germline mutations associated with human genetic diseases. It includes information on SOX10 gene variants and their implications in various disorders.

Waardenburg Syndrome Database (WSdb): WSdb is a specific database dedicated to Waardenburg syndrome and associated genes. It provides curated information on gene names, genet coloring, and variant analysis in Waardenburg syndrome.

These databases are valuable resources for gathering information on the SOX10 gene, associated diseases, variant analysis, and genetic testing. They serve as references for clinicians, researchers, and individuals interested in understanding the genetic basis of related conditions.

References

• OMIM (Online Mendelian Inheritance in Man): A registry of genetic diseases and disorders. Provides information and analysis on specific genes, variants, and diseases. Available at https://www.omim.org/.
• PubMed: A database of scientific articles and references. Offers a wide range of information on various genes and their related diseases. Available at https://pubmed.ncbi.nlm.nih.gov/.
• Genetic Testing Registry: Provides information on genetic tests, including those for the SOX10 gene and related disorders. Available at https://www.ncbi.nlm.nih.gov/gtr/.
• GeneTests: Offers information on various genetic diseases and testing resources. Provides details on testing options for conditions associated with the SOX10 gene. Available at https://www.ncbi.nlm.nih.gov/books/NBK6182/.
• Waardenburg Syndrome: A comprehensive resource on Waardenburg syndrome and related conditions. Provides information on genes, types, and testing options. Available at https://waardenburgsyndrome.org/.
• Waardenburg-Shah Syndrome: A website dedicated to the Waardenburg-Shah syndrome. Provides information on genes, types, and testing. Available at https://www.waardenburg-shah.org/.