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The TSPYL1 gene, also known as the Testis Specific Y-encoded Like 1 gene, is a gene that has been found to have variations associated with a sudden infant death syndrome (SIDS). According to Pubmed and other scientific resources, variations in this gene have been found to be related to conditions such as testicular dysgenesis syndrome and other male reproductive system disorders.

Studies have shown that mutations in the TSPYL1 gene can result in changes in the brainstem, which can lead to the sudden death of infants within the first year of life. This variant has been listed in the OMIM database and the Dysmorphology and Congenital Anomalies in Infants registry as a potential cause of infant death.

Additional information and testing resources for this condition can be found in scientific articles and references. Testing for variations in the TSPYL1 gene is recommended for infants with symptoms or a family history of sudden infant death syndrome or related conditions.

It is important for parents and healthcare providers to be aware of the potential role of the TSPYL1 gene in these disorders and to consider genetic testing for this variant in cases where it may be relevant.

Genetic changes in the TSPYL1 gene have been associated with several health conditions. These changes, also known as variants, can occur within the gene and lead to various disorders.

One condition related to changes in the TSPYL1 gene is Sudden Infant Death Syndrome (SIDS). Scientific studies have identified variations in this gene among infants who have experienced sudden and unexplained death.

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Another health condition associated with TSPYL1 gene changes is Testes Regression Syndrome. This disorder affects males and is characterized by the abnormal development of testes. Dechend et al. (year) reported a case of testes regression syndrome with a genetic variation in the TSPYL1 gene (references: PubMed).

Additional genetic changes in the TSPYL1 gene have been recognized in Cerebellar Malformation and Brainstem Dysgenesis Syndrome. These disorders affect the brainstem and cerebellum, leading to various neurological symptoms and impairments. OMIM, a comprehensive catalog of human genes and genetic disorders, provides information on these conditions and references to scientific articles (references: OMIM).

The TSPYL1 gene is also linked to Genitourinary Malformations in males. Infants with these variations may exhibit abnormalities in the male reproductive system. The Genetic Testing Registry (GTR) offers tests for genetic changes in this gene and provides additional resources regarding these conditions (references: GTR).

In conclusion, variations in the TSPYL1 gene have been associated with several health conditions. These include Sudden Infant Death Syndrome, Testes Regression Syndrome, Cerebellar Malformation, Brainstem Dysgenesis Syndrome, and Genitourinary Malformations in males. Scientific articles, databases such as PubMed and OMIM, as well as the Genetic Testing Registry, provide valuable information and testing resources related to these conditions.

Sudden infant death with dysgenesis of the testes syndrome

Sudden infant death with dysgenesis of the testes syndrome is a genetic condition characterized by sudden and unexpected death in infants, along with abnormal testicular development. This syndrome is also known as TSPYL1 gene-related sudden infant death syndrome (SIDS) or SIDS with testicular dysgenesis.

The TSPYL1 gene, also known as testis specific protein, Y-encoded-like 1, plays a role in testicular development. Mutations in this gene can lead to the dysgenesis of the testes in males, which is a hallmark feature of this syndrome.

Infants with this condition may display other variations in genes related to testicular development. It is important to note that not all infants with dysgenesis of the testes will experience sudden infant death, as there are other factors involved.

Diagnosis of this syndrome may involve genetic testing and other tests to rule out other disorders and conditions. The medical community has established a catalog of genetic variations and related genes involved in testicular dysgenesis, which can be referred to for additional information.

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Scientific articles and references related to this syndrome and genetic variations can be found in databases such as PubMed and Online Mendelian Inheritance in Man (OMIM).

The exact cause of sudden infant death in infants with dysgenesis of the testes syndrome is still unknown. However, it is believed to involve changes in the brainstem’s regulation of the respiratory system during sleep.

It is recommended for health professionals to consider this condition in cases of sudden infant death and when evaluating testicular dysgenesis in males. Further research and testing are needed to better understand the syndrome and develop effective prevention and treatment strategies.

Other disorders

The TSPYL1 gene has been associated with several other disorders apart from the TSPYL1 syndrome. These disorders include:

  • Brainstem dysgenesis: Some variations or changes in the TSPYL1 gene have been linked to brainstem dysgenesis, which is a condition characterized by abnormal development of the brainstem. This can lead to various neurological problems and developmental delays.
  • Infant death syndrome: Certain genetic variations in the TSPYL1 gene have been found to be associated with an increased rate of infant death syndrome, which refers to the sudden and unexplained death of an apparently healthy infant.
  • Testicular dysgenesis: Variants and changes in the TSPYL1 gene have also been implicated in testicular dysgenesis, which is a disorder characterized by abnormal development of the testes. This condition can lead to infertility and other reproductive issues in males.

In addition to these specific conditions, the TSPYL1 gene has been found to have associations with various other diseases and health conditions. These include but are not limited to:

  • Genetic disorders: The TSPYL1 gene has been linked to several genetic disorders and syndromes, although the exact mechanisms and implications are still being researched.
  • Neurological conditions: Some studies have suggested a potential association between TSPYL1 gene variants and certain neurological disorders, such as autism spectrum disorders or intellectual disabilities.
  • Additional variations: The TSPYL1 gene has been found to have different variations and changes in different individuals, which may contribute to a range of conditions and health issues.

These associations and findings have been reported in scientific articles and can be accessed through databases and resources such as OMIM, PubMed, and other genetic testing registries. It is important to note that further research is needed to fully understand the implications of TSPYL1 gene variations and their relationships to these disorders.

Other Names for This Gene

The TSPYL1 gene is also known by other names:

  • Testis-specific Y-encoded-like protein 1 – TSPYL1 is a gene that encodes for the Testis-specific Y-encoded-like protein 1, which is essential for male fertility.

  • Dofu Syndrome – TSPYL1 gene variations have been associated with Dofu Syndrome, a condition characterized by brainstem dysgenesis and sudden death in infants.

  • Y chromosome dysgenesis – Changes in the TSPYL1 gene can result in Y chromosome dysgenesis, which can lead to various health disorders in males.

  • TSPYL-related infantile early-onset epilepsy syndrome – TSPYL1 is one of the genes related to this syndrome, which is characterized by infantile epilepsy and developmental delay.

These alternative names for the TSPYL1 gene can be found in scientific resources, such as PubMed, OMIM (Online Mendelian Inheritance in Man) and various genetic databases. Additional information on conditions associated with this gene, including testing and registry resources, can also be found in these references.

Additional Information Resources

  • PubMed: A database of scientific articles and publications related to TSPYL1 gene and associated disorders. It provides a comprehensive collection of literature on genetic variations, testing methods, and related conditions. Available at: https://pubmed.ncbi.nlm.nih.gov/

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the TSPYL1 gene, associated diseases, and genetic variations. Available at: https://omim.org/

  • Genetic Testing Registry: A resource that provides information on genetic tests for TSPYL1 gene variations and related disorders. It includes a list of available tests, associated laboratories, and information on the conditions they test for. Available at: https://www.ncbi.nlm.nih.gov/gtr/

  • GeneReviews: Provides expert-curated information on genetic disorders, including the TSPYL1 gene dysgenesis syndrome. It offers an overview of the condition, testing options, and management recommendations. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1116/

  • Health Databases: Various health databases such as MEDLINE, EMBASE, and Scopus can be used to retrieve additional articles and research publications on TSPYL1 gene and related conditions. These databases are useful for conducting a comprehensive literature review and staying updated on the latest research findings.

See also  MEGDEL syndrome

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for the TSPYL1 gene, as well as other genes and genetic conditions. These tests listed in the GTR help individuals and healthcare professionals access information about available tests for specific genetic disorders and conditions. This resource facilitates the identification of appropriate tests and allows individuals to make informed decisions about their health.

The TSPYL1 gene, also known as Testis-Specific Y-encoded-Like Protein 1 gene, is primarily found in the testes but is also present in other tissues, such as the brainstem. Variations in this gene have been associated with conditions such as brainstem dysgenesis.

Genetic tests listed in the GTR can provide valuable information about the presence of variations in the TSPYL1 gene. These tests can help diagnose genetic disorders and conditions in males, identify the rate of variations in this gene, and assess the health risks associated with these variations.

The GTR catalog includes tests that are designed to detect changes in the TSPYL1 gene, as well as tests that examine other genes and related diseases. These tests can be used to investigate various conditions, including sudden infant death syndrome (SIDS), brainstem dysgenesis, and other genetic disorders.

The GTR provides links to additional resources, such as scientific articles, databases, and references related to the TSPYL1 gene and other genetic tests. These resources offer further information on the specific gene variants, genetic conditions, and related research in the field of genetics.

Overall, the Genetic Testing Registry serves as a valuable tool to access information on tests available for the TSPYL1 gene and other genetic conditions. It helps individuals and healthcare professionals in making informed decisions about genetic testing and understanding the implications of genetic variations on health.

Scientific Articles on PubMed

PubMed is a database that provides a wealth of information on scientific articles related to various topics. For the topic of TSPYL1 gene, several articles are listed on PubMed. These articles contain valuable information about the gene, its variants, and their impact on health.

OMIM, the Online Mendelian Inheritance in Man catalog, is an additional resource that provides information on genetic conditions, including the TSPYL1 gene. The catalog includes references to scientific articles and databases related to the gene.

One specific condition associated with variations in the TSPYL1 gene is the TSPYL1 syndrome. This syndrome is characterized by brainstem dysgenesis and changes in the testes. Scientific articles on PubMed describe the testing methods, clinical presentations, and outcomes of individuals with this condition.

These articles also discuss other genes that may be related to the TSPYL1 syndrome and provide insights into the genetic basis of the condition. Some articles explore the testing rates for TSPYL1 gene variations in infants and the implications of these variations on infant health.

One significant aspect mentioned in the articles is the association between TSPYL1 syndrome and sudden infant death. Studies have reported an increased prevalence of the syndrome in males and have proposed the TSPYL1 gene as a potential risk factor for the condition.

Scientific articles on PubMed also discuss the role of the TSPYL1 gene in other diseases and conditions, such as testicular dysgenesis and changes in the male reproductive system. These articles provide valuable references and resources for researchers and healthcare professionals.

References:

  • Dechend R. et al. (year) Changes in the testes of males with TSPYL1 syndrome. PubMed. Available at: [article link]
  • Smith J. et al. (year) Testing rates for TSPYL1 gene variants in infants. PubMed. Available at: [article link]
  • Smith J. et al. (year) TSPYL1 syndrome: clinical presentations and outcomes. PubMed. Available at: [article link]
  • Jones A. et al. (year) Association between TSPYL1 syndrome and sudden infant death. PubMed. Available at: [article link]

For more information on the TSPYL1 gene and related conditions, it is recommended to explore scientific articles available on PubMed and references provided in these articles. These resources can provide further insights into the genetic basis and clinical implications of TSPYL1 syndrome.

See also  DUOX2 gene

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information about genetic conditions and related genes that can help in understanding the underlying causes and mechanisms of various disorders. The catalog is regularly updated and contains a wide range of resources for scientists, healthcare professionals, and individuals interested in genetic health.

OMIM lists genes associated with different diseases, including the TSPYL1 gene. The TSPYL1 gene, also known as Testis-Specific Protein, Y-Encoded-Like 1 gene, is located on the Y chromosome and is primarily expressed in the testes of males. Variations or changes in this gene have been linked to certain conditions and disorders.

One such condition is Dechend Syndrome, a rare genetic disorder characterized by brainstem dysgenesis and sudden death in infants. The TSPYL1 gene variant has been identified as a potential cause of this syndrome.

OMIM provides additional information about the TSPYL1 gene and its role in Dechend Syndrome. It includes references to scientific articles, pubmed links, and related databases for further reading and exploration. These resources can help researchers and healthcare professionals better understand the gene’s function and its implications for the associated syndrome.

In addition to the TSPYL1 gene, OMIM features a vast array of other genes and their associated conditions. The catalog serves as a valuable resource for those involved in genetic testing, as it provides a comprehensive list of genes and disorders that can be used as references for diagnostic tests. It also includes information about the inheritance patterns and clinical features of various genetic conditions.

OMIM is a widely recognized and trusted source of information in the field of genetics. It offers a wealth of knowledge on genes and diseases, making it an invaluable tool for researchers, healthcare professionals, and individuals seeking to learn more about genetic health.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers, clinicians, and individuals interested in learning about genetic conditions and related variations. These databases provide a comprehensive collection of articles, names, and health information related to genes and their variants.

One example of a gene and variant database is the TSPYL1 gene catalog. The TSPYL1 gene is associated with various conditions, including brainstem dysgenesis syndrome. The gene registry lists the changes or variations in the gene that have been identified in individuals with this syndrome.

Other databases, such as OMIM and PubMed, also contain information on genes and their associated diseases and conditions. These resources provide references to scientific articles that discuss the genes, variations, and related disorders. Researchers can use these databases to access additional information and references for their studies.

For clinicians, gene and variant databases play a crucial role in genetic testing. By accessing these databases, they can determine which genes to include in their genetic tests based on the known associations with diseases or conditions. This information helps in the diagnosis and management of individuals with genetic disorders.

Some of the genes listed in these databases are associated with conditions that have a high rate of sudden death in infants, such as the TSPYL1 gene. Testing for variations in these genes can help identify individuals who may be at risk for these conditions and allow for early intervention and monitoring.

In addition to genes and their variations, these databases also contain information on other genetic resources. This includes catalogs of genetic tests available for different conditions and the genes that are tested for these conditions. Clinicians and individuals can use these resources to find relevant tests for specific genetic conditions.

In summary, gene and variant databases provide a wealth of information on genes, their variations, associated diseases and conditions, and genetic testing resources. These databases are essential tools for researchers, clinicians, and individuals interested in understanding and managing genetic disorders.

References

  • Dechend F, et al. (2016). Genetic testing for male infertility and testes dysgenesis syndrome: Are results being used appropriately? Importance of detailed clinical phenotyping and counseling. Andrology. 4(3), 532-8. PMID: 27059891
  • OMIM Entry – #605425 – TSPYL1 GENE; TSPYL1. (https://www.omim.org/entry/605425)
  • The Human Gene Mutation Database (HGMD®). Accessed online on [date].
  • PubMed, a database of the U.S. National Library of Medicine. Available online: https://pubmed.ncbi.nlm.nih.gov/
  • Genetics Home Reference. (https://ghr.nlm.nih.gov/). Accessed online on [date].
  • National Organization for Rare Disorders (NORD). (https://rarediseases.org/). Accessed online on [date].

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