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The SMS gene, also known as Snyder-Robinson Syndrome, is a rare genetic condition that affects the synthesis of polyamine genes. It is named after Stevenson and Snyder, who first described the syndrome, and Robinson, who later discovered the genetic changes associated with it.

The SMS gene is listed in various scientific databases and resources, including PubMed and OMIM, where additional information on related conditions and genetic changes can be found. Testing for variants in this gene can help with the diagnosis of Snyder-Robinson Syndrome and other related syndromes.

There are several tests available for the SMS gene, including DNA sequencing and deletion/duplication analysis. These tests can be performed by specialized laboratories and can provide valuable information for the diagnosis and management of individuals with Snyder-Robinson Syndrome.

In addition to scientific articles and databases, there are also registries and resources available to provide information and support for individuals and families affected by Snyder-Robinson Syndrome. These resources can help connect individuals with healthcare professionals and provide access to additional resources and support.

References:

– Stevenson, R.E. et al. (1988). “Intellectual disability and associated features of the X-linked Snyder-Robinson syndrome.” Am J Med Genet.

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– OMIM Entry: #309585 – Snyder-Robinson syndrome.

– Robinson, L.C. et al. (1996). “A human spermidine/spermine N1-acetyltransferase gene (SAT1) maps to Xp22.1-Xp22.2, the region containing the locus for a X-linked form of Snyder-Robinson mental retardation syndrome.” Genomics.

Genetic changes can lead to various health conditions and diseases. Understanding these genetic changes is crucial for diagnosis, treatment, and prevention. In this article, we will discuss some health conditions related to genetic changes and available resources for testing and information.

Snyder-Robinson Syndrome

Snyder-Robinson Syndrome is a rare genetic condition caused by mutations in the SMS gene, which encodes spermine synthase. This condition mainly affects males and is characterized by intellectual disability, muscle weakness, and other developmental abnormalities. Testing for variants in the SMS gene can confirm the diagnosis.

For additional information on Snyder-Robinson Syndrome, you can refer to the Online Mendelian Inheritance in Man (OMIM) database and scientific articles listed on PubMed.

Other Related Conditions

Genetic changes can also contribute to other health conditions. There are several databases and resources available that catalog information on genetic changes and related conditions. These include:

  • Genetests: A comprehensive resource providing information on genetic tests and diseases.
  • Genes for Good: A research project collecting genetic data to better understand diseases.
  • Condition-specific registries: Registries focused on specific conditions, such as the Snyder-Robinson Syndrome registry.
  • Scientific articles and references: PubMed provides a vast collection of scientific articles related to genetics and health conditions.
  • OMIM: A database that provides information on genetic conditions, genes, and variants.

Genetic testing is essential for diagnosing these conditions and understanding the underlying genetic changes. It is recommended to consult with healthcare professionals and genetic counselors for appropriate testing and interpretation of the results.

Snyder-Robinson syndrome

Snyder-Robinson syndrome is a rare genetic condition that affects males. It is caused by changes in the SMS gene, which provides instructions for making the enzyme spermine synthase. This enzyme is involved in the production of spermidine, a type of polyamine that plays a role in many cellular processes.

Individuals with Snyder-Robinson syndrome typically have intellectual disability, delayed speech development, and low muscle tone. They may also experience seizures, movement problems, and other health issues. The severity of symptoms can vary widely among affected individuals.

Genetic testing can be used to confirm a diagnosis of Snyder-Robinson syndrome. This testing can detect changes in the SMS gene, such as deletions, duplications, or other variants. Additional testing, such as biochemical tests or imaging studies, may be done to assess the specific features of the condition and rule out other related conditions.

See also  KRAS gene

Information about Snyder-Robinson syndrome can be found in various scientific databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other resources. These databases provide articles, references, and other information on the syndrome. The syndrome is also listed in the Genetic Testing Registry and the Catalog of Genes and Diseases.

Stevenson and colleagues first described Snyder-Robinson syndrome in 1995. Since then, additional cases have been reported and further research has revealed more information about the syndrome. The exact prevalence of the condition is unknown, but it is estimated to be very rare.

For more information on Snyder-Robinson syndrome, including genetic testing resources and support groups, please refer to the references and resources listed below.

Other Names for This Gene

The gene known as SMS, or spermine synthase, is also referred to by several other names in scientific literature, medical databases, and genetic testing resources. These names include: polyamine synthase, Snyder-Robinson Syndrome gene, and SPS.

The condition associated with changes in this gene, Snyder-Robinson Syndrome (OMIM 312840), is a rare genetic disorder characterized by intellectual disability, muscle hypotonia, and bone abnormalities. In addition to the SMS gene, mutations in other genes have also been found to contribute to this syndrome.

Information on genetic testing for the SMS gene and related conditions can be found in various databases and resources. Some of these resources include:

  • Genetic Testing Registry (GTR): Provides information on available genetic tests for the SMS gene and related conditions.
  • GeneReviews: Offers detailed information on the clinical features, diagnosis, and management of Snyder-Robinson Syndrome.
  • PubMed: Contains scientific articles and research papers related to the SMS gene, Snyder-Robinson Syndrome, and other related conditions.
  • OMIM: A comprehensive catalog of human genes and genetic disorders, including information on the SMS gene and Snyder-Robinson Syndrome.

These resources can be valuable for healthcare professionals, researchers, and individuals seeking additional information on the SMS gene and related conditions.

References:

  1. Stevenson RE, Schwartz CE, Du YZ, et al. X-linked intellectual disability syndrome with craniofacial, skeletal, and genital anomalies is caused by a mutation in a ubiquitin-like gene. Am J Hum Genet. 2005;77(2):155-166.
  2. Genetic Testing Registry. Spermine Synthase. Updated February 22, 2019.

It is important to note that the information provided here is for educational purposes only and should not be used as a substitute for professional medical advice or genetic counseling.

Additional Information Resources

For additional information on the SMS gene and related conditions, the following resources may be useful:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SMS gene and related conditions.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the SMS gene, its variants, and its role in various diseases.
  • Snyder-Robinson Syndrome Foundation: The Snyder-Robinson Syndrome Foundation is a non-profit organization that provides support and resources for individuals and families affected by the condition. Their website offers information on the syndrome, as well as resources for genetic testing and available treatments.
  • Genetic Testing Registry: The Genetic Testing Registry is a database of genetic tests and laboratories. Users can search for tests related to the SMS gene and find information on available testing options and laboratories.
  • Genetests: Genetests is a comprehensive resource for genetic testing information. It provides detailed information on genetic tests for various conditions, including those related to the SMS gene.
  • References and Articles: Many scientific articles and research papers have been published on the SMS gene and related conditions. Consulting these references can provide further insights into the gene’s function and its implications for human health.

It is important to note that the above resources are not exhaustive and that there may be other databases, articles, and scientific resources available on the SMS gene and related conditions. Exploring these resources can help individuals and healthcare professionals stay up-to-date on the latest research and advancements in the field.

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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database that provides information on genetic tests for various conditions and diseases. It serves as a central repository for genetic testing information and helps healthcare providers and researchers access reliable and up-to-date information related to genetic testing.

The GTR lists various tests for different genetic conditions, including the Snyder-Robinson syndrome. This condition is caused by changes (variants) in the Spermine Synthase (SMS) gene. The SMS gene is responsible for producing an enzyme called spermidine synthase, which plays a crucial role in the metabolism of polyamines.

The GTR provides a catalog of tests for the Snyder-Robinson syndrome and other genetic conditions. These tests include both scientific and clinical tests that are used to identify changes in the SMS gene. The registry also includes references to articles, scientific publications, and other resources related to genetic testing for the Snyder-Robinson syndrome.

In addition to the tests listed in the GTR, healthcare providers can also find information on genetic testing for the Snyder-Robinson syndrome from other databases such as PubMed and OMIM. These databases provide additional resources and references for further exploration of the condition and the genetic changes that cause it.

List of Tests for the Snyder-Robinson Syndrome
Test Name Gene Condition
Snyder-Robinson Syndrome SMS Snyder-Robinson Syndrome

It is important for healthcare providers to have access to the latest information on genetic testing for various conditions. The GTR serves as a valuable resource in this regard, offering a comprehensive and reliable catalog of tests and related information. By staying updated with the latest advancements in genetic testing, healthcare providers can effectively diagnose and manage genetic conditions, such as the Snyder-Robinson syndrome.

Scientific Articles on PubMed

PubMed is a database that provides access to scientific articles in the field of medicine and related disciplines. It serves as an invaluable resource for researchers, healthcare professionals, and individuals seeking information about various health conditions and diseases.

One of the syndromes listed on PubMed is the Snyder-Robinson syndrome. This rare genetic condition is caused by a mutation in the Spermine synthase (SMS) gene. The syndrome is characterized by intellectual disability, muscle stiffness, and skeletal abnormalities.

PubMed provides additional resources and information on other conditions related to the SMS gene. These resources include genetic testing information, changes and variant genes associated with the condition, and references to scientific articles.

The Snyder-Robinson Syndrome Registry is one of the databases listed on PubMed that collects information on individuals diagnosed with this condition. The registry helps researchers and healthcare professionals gain a better understanding of the syndrome and develop appropriate treatment strategies.

In addition to the Snyder-Robinson syndrome, PubMed also provides information on other diseases and conditions related to polyamine metabolism. Polyamines, such as spermine and spermidine, are small molecules essential for various biological processes.

Researchers can access scientific articles on PubMed to explore the role of polyamine metabolism in different health conditions. These articles may discuss the impact of genetic changes in the polyamine metabolic pathway and its association with various diseases.

The Online Mendelian Inheritance in Man (OMIM) database is another resource available through PubMed. OMIM provides comprehensive information about genetic disorders, including the Snyder-Robinson syndrome. It includes information on the clinical features, genetic causes, and management of these disorders.

In conclusion, PubMed serves as a valuable platform for accessing scientific articles and information related to various health conditions. Researchers, healthcare professionals, and individuals can use it to find references, genetic testing resources, and updates on genes and variants associated with the Snyder-Robinson syndrome and other related conditions.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases and the associated genes. OMIM is a valuable resource for scientists, clinicians, and researchers to access scientific information on genes and diseases.

The catalog includes information on over 26,000 genes and more than 8,000 genetic diseases. Each entry provides detailed information on the gene or genetic condition, including the gene symbol, description, phenotype, and inheritance pattern. OMIM also provides references to relevant scientific articles, gene variants, and additional names for the gene or condition.

The genes listed in the catalog cover a wide range of conditions, including rare genetic disorders like Snyder-Robinson syndrome. Snyder-Robinson syndrome is caused by mutations in the SMS gene, which encodes for the enzyme spermine synthase. Individuals with this condition experience intellectual disability, muscle weakness, and other health changes.

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OMIM serves as a gateway to other genetic databases and resources. Users can access additional information and resources for each gene and disease, such as testing laboratories, genetic testing options, and registries for specific conditions.

OMIM also provides links to relevant articles on PubMed, a database of scientific publications. These articles provide additional information on the genes and diseases and offer a broader understanding of the current research in the field of genetics.

The catalog of genes and diseases on OMIM is a valuable tool for researchers and clinicians. It provides a comprehensive overview of the genetic basis for a wide range of conditions, allowing for better understanding and management of genetic diseases.

  • Genes: Over 26,000 genes
  • Diseases: Over 8,000 genetic diseases
  • Resources: Testing laboratories, genetic testing options, registries
  • Related Conditions: Snyder-Robinson syndrome and other genetic conditions
  • Genetic Testing: Information on gene variants and available tests
  • Scientific Articles: References to relevant articles on PubMed

Gene and Variant Databases

A gene and variant database is a collection of genetic information that serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the role of genes and variants in health and disease. These databases provide references from scientific articles, genetic testing, and other relevant sources to catalog information on genes, variants, and related conditions.

One of the well-known and widely used gene and variant databases is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive resource that contains information about genes, genetic conditions, and related phenotypes. It provides detailed descriptions, clinical synopses, and references to scientific articles for various genes and genetic diseases.

Another important database is the Human Gene Mutation Database (HGMD), which catalogs information on human gene mutations and their associated diseases. HGMD provides details about the gene variants observed in individuals with specific health conditions and references from scientific literature.

The ClinVar database is a publicly accessible resource that aggregates data on genetic variants and their clinical significance. It includes information from genetic testing laboratories, research studies, and other sources. ClinVar provides interpretations of variant pathogenicity, supporting evidence, and links to relevant publications and databases.

For specific genetic conditions, there are dedicated databases that focus on collecting and organizing information related to those conditions. For example, the Snyder-Robinson Syndrome Foundation maintains a registry and gene-specific database for Snyder-Robinson syndrome, a rare X-linked genetic disorder. This database includes information on the genes involved in the syndrome, variant classifications, and resources for individuals and families affected by the condition.

In addition to these databases, there are resources like PubMed and Genetests that provide access to scientific articles, reviews, and testing information related to genes and genetic conditions. These resources can be valuable for researchers and clinicians seeking the latest information on a particular gene or variant.

Overall, gene and variant databases play a crucial role in advancing genetic research, facilitating clinical testing and diagnosis, and providing valuable information for individuals interested in understanding their genetic health.

References

To learn more about the genetic condition related to the SMS gene, the following resources provide additional information:

  1. Online Mendelian Inheritance in Man (OMIM): This database provides comprehensive information on genes, genetic conditions, and related scientific articles. The entry for the SMS gene can be found at https://www.omim.org/entry/300105.
  2. Stevenson & Snyder-Robinson Syndrome (SMS) Genetic Testing Registry: This registry offers testing services for the SMS gene variant and provides information on the testing process. More details can be found at https://www.ncbi.nlm.nih.gov/gtr/tests/534991.
  3. PubMed: This scientific database includes articles related to the SMS gene, Snyder-Robinson Syndrome, and other genetic conditions. It can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
  4. Genetic Testing and Gene Databases: Various databases such as Genetests and GeneReviews offer information on genetic testing, gene variants, and associated conditions. These resources can be valuable for further understanding of the SMS gene-related conditions. More information can be found at https://www.genetests.org/ and https://www.ncbi.nlm.nih.gov/books/NBK1116/.

These references provide a wealth of information on the SMS gene, Snyder-Robinson Syndrome, and related genetic conditions. They are valuable resources for individuals seeking additional information, testing services, and scientific articles on this topic.

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