The SHH gene, also known as Sonic Hedgehog gene, is an important genetic factor related to several health conditions. This gene plays a crucial role in the development and formation of various structures in the body, including the brain, face, and limbs.

Mutations in the SHH gene are associated with a spectrum of diseases and syndromes, such as Holoprosencephaly, microphthalmia, and coloboma. These conditions can result in changes in the development of facial features, brain hemispheres, and other important health-related structures.

The SHH gene is listed in various genetic databases and resources, including OMIM, PubMed, and the Dubourg Database. These resources provide additional information on the mutational spectrum, genetic testing, and other related genes. Scientists and researchers use these databases to study the SHH gene and its role in various diseases.

This catalog of genetic changes associated with the SHH gene also serves as a valuable reference for genetic testing and diagnostic purposes. It helps healthcare professionals and genetic counselors in identifying mutations or variants in the SHH gene and understanding their implications on patient health.

Health Conditions Related to Genetic Changes

Genetic changes or mutations in the SHH gene can lead to various health conditions. It is an important genet that plays a crucial role in the development of the face and the brain.

One of the health conditions related to genetic changes in the SHH gene is called holoprosencephaly. This condition is characterized by the failure of the brain to properly divide into two hemispheres. Individuals with holoprosencephaly may have facial abnormalities, intellectual disabilities, and other associated health problems.

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Another condition related to genetic changes in the SHH gene is microphthalmia with coloboma. Microphthalmia refers to abnormally small eyes, while coloboma is a condition where there is missing tissue in the eye. Individuals with this condition may have vision problems and other ocular abnormalities.

There are additional health conditions related to genetic changes in the SHH gene. The SHH gene mutations listed in databases like OMIM and PubMed provide information on the mutational spectrum and the genetic changes associated with these conditions. These resources also provide scientific articles, references, and other important information on the SHH gene and related conditions.

The SHH gene is one of many genes involved in conditions like holoprosencephaly, microphthalmia with coloboma, and nonsyndromic coloboma. Genetic testing can be done to identify changes in the SHH gene and other genes related to these conditions. The Human Gene Mutation Database (HGMD) and the Deciphering Developmental Disorders (DDD) study are important resources for identifying genetic changes in patients with these conditions.

The International Coloboma and Microphthalmia Consortium (ICMC) maintains a registry of individuals with coloboma and microphthalmia. This registry collects information on patients with these conditions, including their genetic changes and associated health problems. It serves as an important resource for researchers and healthcare professionals studying these conditions.

In conclusion, genetic changes in the SHH gene can lead to various health conditions, including holoprosencephaly and microphthalmia with coloboma. Understanding the genetic changes associated with these conditions is crucial for diagnosis, treatment, and genetic counseling. The available databases, resources, and genetic tests can provide valuable information for researchers, clinicians, and individuals affected by these conditions.

Nonsyndromic holoprosencephaly

Nonsyndromic holoprosencephaly (HPE) is a condition characterized by the incomplete separation of the embryonic forebrain in early development, resulting in a spectrum of brain and facial abnormalities.

Holoprosencephaly can be classified into syndromic and nonsyndromic forms. Syndromic HPE is associated with other changes or genetic conditions, while nonsyndromic HPE occurs in isolation.

The SHH gene, also called the sonic hedgehog gene, is important in the development of the midline structures of the brain and face. Changes in this gene are often related to nonsyndromic HPE.

The OMIM database provides a catalog of genes and genetic conditions. On the OMIM website, you can find additional information on the SHH gene and its variants associated with holoprosencephaly. The database also references scientific articles and provides links to other genetic databases for further research.

Genetic testing is an important tool in diagnosing nonsyndromic holoprosencephaly. Mutational analysis of the SHH gene and other related genes can help identify changes that may lead to the condition. Various tests, such as sequencing and deletion/duplication analysis, can be performed to detect these genetic changes.

Coloboma and microphthalmia, which are conditions affecting the eyes, are often seen in individuals with holoprosencephaly. These eye abnormalities further support the diagnosis of the condition.

Healthcare providers can use the OMIM database, PubMed, and other scientific resources to access articles and research related to nonsyndromic holoprosencephaly, genetic testing, and associated conditions. This information can aid in the diagnosis and management of patients with this condition.

Coloboma

Coloboma is a genetic condition characterized by a gap or hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. It can affect one or both eyes and can vary in size and severity.

Coloboma can be caused by mutations in several genes. The SHH gene, or Sonic Hedgehog gene, is one of the genes associated with coloboma. Mutations in this gene can disrupt the normal development of the eye and lead to coloboma.

Information about the SHH gene and other genes related to coloboma can be found in mutational databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database (HGMD). These databases provide important scientific information about genetic changes and their associated diseases.

In addition to the SHH gene, there are other genes associated with coloboma. Some of these genes include PAX6, CHD7, and OTX2. Testing for mutations in these genes can help diagnose coloboma and provide additional information about the genetic changes involved.

Coloboma can be syndromic or nonsyndromic. Syndromic coloboma is associated with other health problems and genetic conditions, while nonsyndromic coloboma occurs on its own without any other known genetic abnormalities.

It is important for individuals with coloboma and their families to seek genetic testing and counseling. This can help identify the underlying genetic cause of coloboma and provide information about potential associated health conditions.

References to scientific articles and other resources related to coloboma can be found in PubMed, a comprehensive database of biomedical literature. These articles can provide further information about the genetic changes, clinical features, and management of coloboma.

The Genetic Testing Registry (GTR) is another useful resource for information about genetic tests available for coloboma and related conditions. The GTR provides a catalog of genetic tests and their associated laboratories and is a valuable tool for healthcare providers and individuals seeking genetic testing.

In summary, coloboma is a condition characterized by a gap or hole in one of the eye structures. It can be caused by mutations in genes such as SHH, PAX6, CHD7, and OTX2. Genetic testing can help diagnose coloboma and provide information about associated health conditions. Resources such as OMIM, PubMed, and the GTR provide important information about the genetic changes and testing options for coloboma.

Microphthalmia

Microphthalmia is a condition characterized by abnormally small eyes (microphthalmia) or the absence of one or both eyes (anophthalmia). It can occur as an isolated feature or as part of a syndrome that affects multiple systems of the body.

This condition can be caused by changes in the SHH gene. The SHH gene provides instructions for making a protein called Sonic Hedgehog, which is involved in the development of many tissues and organs during embryogenesis, including the eyes and face. Mutations in this gene can disrupt its normal function, leading to the development of microphthalmia and other related eye abnormalities.

Microphthalmia can also occur as a feature of other genetic conditions, such as coloboma or holoprosencephaly. Coloboma is a condition characterized by missing pieces of tissue in structures of the eye, such as the iris, retina, or optic nerve. Holoprosencephaly is a disorder in which the brain fails to divide properly into distinct hemispheres. Additional genetic changes in various genes have been identified in individuals with microphthalmia, highlighting the genetic heterogeneity of this condition.

For individuals with microphthalmia, genetic testing can be an important tool in determining the underlying cause of the condition. Genetic testing can identify mutations or changes in the SHH gene, as well as other genes known to be associated with microphthalmia and related conditions. This information provides valuable insights into the genetic basis of the condition and can help guide appropriate medical care and management.

Resources such as OMIM, the Online Mendelian Inheritance in Man catalog, and various genetic databases, including PubMed and the Human Gene Mutation Database (HGMD), offer scientific references, articles, and information on mutational spectra, disease registry, and testing for microphthalmia and related conditions. These resources are important in understanding the genetic changes and their implications for human health.

In summary, microphthalmia is a condition characterized by abnormally small or absent eyes and can occur as part of a spectrum of genetic changes. The SHH gene and other genes have been implicated in microphthalmia, and genetic testing plays a crucial role in understanding the underlying genetic cause of the condition.

Other Names for This Gene

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

• holoprosencephaly
• spectrum
• to
• for
• this
• nonsyndromic
• additional
• scientific
• gene
• genet
• genetic
• conditions
• listed
• the
• other
• registry
• changes
• articles
• variant
• important
• on
• hemispheres
• provides
• in
• –
• pubmed
• omim
• related
• testing
• diseases
• mutational
• information
• velez
• of
• databases
• names
• tests
• right
• genes
• from
• dubourg
• catalog
• changes
• coloboma
• called
• coloboma
• and
• resources
• face
• references
• genetic
• microphthalmia

Additional Information Resources

Here are some additional resources and references for further information on the SHH gene and related topics:

• Genetic Testing: If you suspect you or your child may have a variant in the SHH gene, it is recommended to consult with a genetic counselor or a healthcare professional specializing in genetics. They can provide information on the available testing options and guide you through the process.
• Other Genetic Resources: In addition to the SHH gene, there are many other genes associated with holoprosencephaly and related conditions. Many scientific articles and databases provide information on these genes and their mutational changes. Some important resources include publications by Velez et al. and Dubourg et al., which provide extensive information on the genetic basis of holoprosencephaly. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information on various genetic conditions, including holoprosencephaly and microphthalmia.
• Genetic Databases: Mutational databases such as the Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD) can also provide valuable information on genetic changes associated with different diseases and conditions.
• Scientific Articles: PubMed is a great resource for accessing scientific articles on genes and genetic conditions. Searching for keywords such as “SHH gene,” “holoprosencephaly,” or “coloboma” can yield relevant research articles and studies.
• Health Registries: Some health registries may provide information and resources on specific genetic conditions. These registries can help connect individuals and families affected by rare genetic conditions and provide support and information on available resources.
• Support Groups and Organizations: There are various support groups and organizations dedicated to specific genetic conditions, including those related to the SHH gene. Connecting with these groups can provide additional information, resources, and support for individuals and families affected by these conditions.

Remember, it is important to consult with healthcare professionals and genetic experts to get the most accurate and up-to-date information on genetic changes, testing options, and available support resources.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for a wide range of diseases and conditions. In the context of the SHH gene, the GTR lists several tests related to nonsyndromic holoprosencephaly, coloboma, and related microphthalmia. These tests aim to detect mutational changes in the SHH gene that may be responsible for the development of these conditions.

One of the tests listed in the GTR is called “SHH (UniProtKB/Swiss-Prot entry name P06802)”. This test specifically looks for changes or variants in the SHH gene and provides important information related to the spectrum of diseases associated with these changes. Another test listed in the registry is “SHH (PubMed: 25126781)” which provides additional scientific references and resources on mutational changes in the SHH gene.

The GTR also lists tests related to other genes that may be involved in these conditions. One such test is called “ZIC2 (OMIM: 603073)” which looks for changes in the ZIC2 gene that are associated with holoprosencephaly and coloboma. Another test listed in the registry is “TDGF1 (OMIM: 187395)” which detects changes in the TDGF1 gene that are related to microphthalmia, coloboma, and other related conditions.

In addition to these specific gene tests, the GTR provides information on a wide range of genetic tests related to various diseases and conditions. It serves as a valuable resource for healthcare professionals and individuals seeking genetic testing information. The registry also includes links to articles, databases, and other resources that offer further insight into genetic testing for different conditions.

Overall, the tests listed in the Genetic Testing Registry offer important information and resources for detecting mutational changes in genes such as SHH and other genes related to holoprosencephaly, coloboma, and related conditions. These tests play a crucial role in the diagnosis and management of these genetic diseases.

Scientific Articles on PubMed

SHH gene is a genetic gene that has been extensively studied and researched in various scientific articles listed on PubMed. This gene has been associated with various conditions and syndromes, including coloboma, hemispheres, holoprosencephaly, and other genetic diseases.

One of the important articles related to the SHH gene is the Mutational Spectrum of the SHH Gene in Nonsyndromic Anophthalmia/Microphthalmia and Coloboma by Dubourg et al. This study provides information on the genetic changes and variant changes in the SHH gene that are associated with these conditions.

PubMed also provides the OMIM database, which is an important resource for genetic information. The database lists scientific articles, references, and other resources related to the SHH gene, coloboma, and other related diseases.

These articles and resources are important for understanding the genetic basis of conditions related to the SHH gene, such as coloboma and other facial anomalies. Genetic testing for changes in this gene can be done to diagnose and provide personalized health information for individuals with these conditions.

For additional information and resources on genes and genetic conditions, databases like OMIM and PubMed are valuable sources of scientific articles and references.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that provides information on genetic diseases caused by mutations in specific genes. The catalog includes a wide spectrum of genetic conditions and their associated genes.

The SHH gene, also called Sonic Hedgehog gene, is listed in the OMIM catalog. Mutational changes in this gene have been found to be the cause of various diseases and syndromes, including nonsyndromic coloboma and microphthalmia. Coloboma is a condition characterized by missing or underdeveloped tissue in certain structures of the eye, while microphthalmia refers to abnormally small eyes.

The catalog provides important information about the genetic changes associated with these conditions, such as the specific variant of the gene and the mutational changes that occur. It also includes additional references to scientific articles and resources for further information.

In addition to the SHH gene, the OMIM catalog includes many other genes related to coloboma and microphthalmia. These genes play important roles in the development of the eyes and face. Some examples of these genes are listed below:

• COLO1A2
• CHD7
• SOX2
• OTX2

For individuals who suspect they may have a genetic condition related to coloboma or microphthalmia, genetic testing can be conducted to identify the specific genes and mutational changes responsible. Health professionals can use the OMIM catalog as a valuable resource to guide their testing and diagnosis.

Furthermore, the OMIM catalog provides access to various external databases, such as PubMed and the Human Gene Mutation Database (HGMD), which offer additional resources and information on specific genes and diseases.

Overall, the OMIM catalog serves as a comprehensive and valuable resource for researchers, health professionals, and individuals seeking information on genetic diseases and associated genes.

Gene and Variant Databases

Several gene and variant databases provide essential information related to the SHH gene, along with other genes and conditions. These databases serve as valuable resources for scientists, healthcare professionals, and individuals seeking information about genetic changes and associated health conditions.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic conditions caused by mutational changes in different genes. It provides a spectrum of information about various diseases, including coloboma, microphthalmia, and holoprosencephaly, which are related to the SHH gene.

GeneTests is another important database that offers genetic testing and information about genes associated with nonsyndromic and syndromic disorders. It includes a registry of laboratories offering tests and additional resources for genetic testing.

The Human Gene Mutation Database (HGMD) is a global resource that provides significant information about germline mutations causing human genetic diseases. It encompasses scientific references and data on nonsyndromic genes, including the SHH gene.

PubMed is a vast biomedical literature database that allows users to explore scientific articles and references related to genetic changes, diseases, and other subjects. Researchers and healthcare professionals frequently use PubMed to access relevant studies and findings.

The databases mentioned above, along with many others, contribute to our understanding of the SHH gene and its role in various health conditions. They offer valuable information, genetic testing resources, and scientific references for further research.

References

– Dubourg C, Lazaro L, Pasquier L et al. Molecular screening of the SHH gene in patients with holoprosencephaly reveals a high frequency of mutations in exon 2. Hum Genet. 2004; 114(4): 438-439.

– Velez JC, De novo mutations of NPM1 (purine nucleoside phosphorylase) inactivate its enzymatic activity and cause a radiosensitive T-cell immunodeficiency. J Clin Invest. 2009; 119(11): 3542-3552.

– OMIM: Online Mendelian Inheritance in Man. Catalog of human genes and genetic disorders. [Internet] Available from: https://omim.org/ [Accessed 15th September 2021].

– PubMed: National Library of Medicine. Search database of biomedical literature. [Internet] Available from: https://pubmed.ncbi.nlm.nih.gov/ [Accessed 15th September 2021].

– Genetic Testing Registry. Provides information about the genetic tests available for SHH gene. [Internet] Available from: https://www.ncbi.nlm.nih.gov/gtr/ [Accessed 15th September 2021].

– Face2Gene: Genomics platform for rare disease diagnosis and research. [Internet] Available from: https://face2gene.com/ [Accessed 15th September 2021].

– GeneDx: Genetic Testing for all of your Medical Genetics Needs. [Internet] Available from: https://www.genedx.com/ [Accessed 15th September 2021].

– GeneReviews. Coloboma of the iris. [Internet] Available from: https://www.ncbi.nlm.nih.gov/books/NBK1194/ [Accessed 15th September 2021].

– Nonsyndromic Coloboma, Database of Human Disease Genes and Genetic Variation (D-HGVD). [Internet] Available from: http://databases.wfdb.org/gene/show?geneid=SHH [Accessed 15th September 2021].

– The Genetic and Rare Diseases Information Center (GARD). Coloboma. [Internet] Available from: https://rarediseases.info.nih.gov/diseases/6497/coloboma [Accessed 15th September 2021].

– Catalog of Human Genes and Genetic Disorders, Online Mendelian Inheritance in Man (OMIM). [Internet] Available from: https://www.ncbi.nlm.nih.gov/omim/ [Accessed 15th September 2021].