The SKIV2L gene, also known as the superkiller viralicidic activity 2-like gene, is a genetic variant that has been linked to various diseases. One of the conditions associated with this gene is trichohepatoenteric syndrome, a rare syndromic disease.

The SKIV2L gene is involved in important cellular processes and plays a role in maintaining the health and function of our cells. It encodes for proteins that are part of the SKI complex, which is responsible for RNA degradation and quality control. Mutations in the SKIV2L gene can lead to changes in the proteins produced, affecting their function and potentially causing disease.

Information about the SKIV2L gene and related conditions can be found in various scientific databases and resources. The OMIM catalog, PubMed articles, and other genetic databases provide references and information on testing availability and genetic changes associated with this gene. Additionally, there are genetic tests listed that can help diagnose conditions related to SKIV2L gene variants.

Due to the rare and syndromic nature of trichohepatoenteric syndrome and other conditions related to the SKIV2L gene, a registry has been established to collect and disseminate information on affected individuals. This registry serves as a valuable resource for healthcare professionals, researchers, and individuals searching for information on these rare diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the SKIV2L gene have been linked to various health conditions. This gene variant is rare and can cause a syndrome known as trichohepatoenteric syndrome, which is characterized by abnormalities in the hair, liver, and intestines.

Information on these conditions can be found in various resources such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles, and genetic testing databases. The SKIV2L gene, along with other genes and proteins, is listed in these resources, providing a comprehensive catalog of syndromic and non-syndromic conditions associated with genetic changes.

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Additional information on health conditions related to the SKIV2L gene and other related genes can be found in the references section of scientific articles. These references provide further details on specific diseases, testing methods, and available treatments.

Patients and healthcare providers can also consult registries and databases to access up-to-date information on the latest research and clinical trials related to these conditions. These resources can provide valuable information on ongoing studies, potential treatments, and support groups for patients and families affected by genetic changes in the SKIV2L gene.

These resources provide a wealth of information for patients, researchers, and healthcare professionals looking to learn more about health conditions related to genetic changes in the SKIV2L gene and other associated genes.

Trichohepatoenteric syndrome

The trichohepatoenteric syndrome, also known as syndromic diarrhea, is a rare genetic disorder characterized by severe and intractable diarrhea, abnormal hair, and liver disease. This syndrome is caused by variations in the SKIV2L gene.

SKIV2L gene:

• The SKIV2L gene is responsible for encoding the superkiller viralicidic activity 2-like protein, which is involved in the degradation of RNA molecules.

Syndromic diarrhea:

• Syndromic diarrhea refers to a group of conditions characterized by chronic diarrhea, which can lead to malnutrition and failure to thrive.

Genetic testing:

• Genetic testing can be performed to identify variants in the SKIV2L gene and confirm the diagnosis of trichohepatoenteric syndrome. This testing can be helpful for genetic counseling and family planning.

Registry and databases:

• – OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable resources for accessing scientific articles and references related to trichohepatoenteric syndrome.
• – There are also registries and databases available that provide additional information on this syndrome and related conditions, such as the trichohepatoenteric syndrome catalog.

Other related genes and diseases:

• There are other genes listed besides SKIV2L that are associated with syndromic diarrhea and liver disease.
• Some of these genes include TTC7A, SPINT2, DGAT1, and EPCAM.
• The associated diseases may have different names, such as multiple intestinal atresia, microvillus inclusion disease, and cystic fibrosis.

Resources for information and testing:

• – Genetic counselors and healthcare professionals specializing in rare genetic disorders can provide guidance and information about trichohepatoenteric syndrome.
• – Genetic testing laboratories offer specific tests for the SKIV2L gene and other related genes.
• – Genetic testing can help confirm a diagnosis, provide information about disease prognosis, and guide treatment strategies.

Other Names for This Gene

The SKIV2L gene is also known by the following names:

• trichohepatoenteric syndrome 2
• THE-S2
• SKI2W

These alternative names can be useful for searching databases and other resources for additional information on this gene and its related conditions.

For a list of genetic changes and related genes associated with rare syndromic conditions, see the Genetic Testing Registry (GTR).

For information about specific genes and diseases, see the OMIM (Online Mendelian Inheritance in Man) database, which is a catalog of human genes and genetic disorders.

Scientific articles can be found through PubMed, a service of the National Library of Medicine.

Health-related references and information about genetic testing are available on the Genetic Testing Registry and GeneReviews websites, respectively.

This gene is also referred to as superkiller (SKI) 2-like gene.

Additional Information Resources

For additional information regarding the SKIV2L gene, related genes, diseases, proteins, and health conditions, you may refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man) – A comprehensive database that provides information on the genetic basis of human diseases, including references, genes, variant changes, and related conditions.
• PubMed – A database of scientific articles from various fields, including genetics. You can search for specific articles related to the SKIV2L gene and its associated conditions.
• The National Registry of Genetic Testing Laboratories – This registry lists laboratories that offer testing for genetic conditions, including syndromes associated with the SKIV2L gene. You can find testing resources and contact information here.
• Trichohepatoenteric Syndrome (THES) Database – This database provides information on the rare genetic condition known as Trichohepatoenteric Syndrome (THES), which is caused by changes in the SKIV2L gene. You can find information on symptoms, diagnosis, and management of this syndrome.
• Syndromic Disorders Catalog – A catalog that lists various syndromes and genetic conditions, including those associated with the SKIV2L gene. You can find information on the phenotypic features, inheritance patterns, and other related details.

These resources can provide you with additional information on the SKIV2L gene, its functions, related diseases, and recommended tests. It is always advisable to consult with healthcare professionals or genetic counselors for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

The SKIV2L gene is associated with various diseases and syndromic conditions. Genetic testing allows for the detection of changes and variants in this gene, providing valuable information about the individual’s risk for certain disorders.

The Genetic Testing Registry (GTR) lists multiple tests related to the SKIV2L gene. These tests are designed to identify specific changes or variants in the gene that may be associated with certain diseases or conditions. Some of the tests listed in the GTR related to the SKIV2L gene include:

• Superkiller viralicidic activity 2-like (SKIV2L) gene variant analysis
• Testing for trichohepatoenteric syndrome related genes, including SKIV2L
• Analysis of SKIV2L gene mutations in rare diseases

Each test listed in the GTR provides different information and targets specific genetic changes or variants. The GTR offers additional resources, such as scientific articles, for further information on each test. These articles can be found on PubMed and other scientific databases.

Additionally, the GTR provides references and catalog numbers for other databases and resources related to the SKIV2L gene. This includes OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic conditions.

Overall, the GTR serves as a valuable tool for individuals and healthcare professionals seeking information and genetic testing options for the SKIV2L gene and related conditions.

Scientific Articles on PubMed

PubMed is a widely-used online database that provides access to scientific articles from a variety of fields. It is a valuable resource for researchers, clinicians, and other health professionals. Here, you can find information on research articles, reviews, and case reports related to the SKIV2L gene and its role in trichohepatoenteric syndrome.

The SKIV2L gene, also known as superkiller viralicidic activity 2-like, is involved in various cellular processes and is important for maintaining cell health. Mutations in this gene have been linked to trichohepatoenteric syndrome, a rare and severe genetic disorder characterized by hair abnormalities, liver disease, and intestinal problems.

PubMed provides a list of scientific articles on the SKIV2L gene and its related diseases. These articles discuss the genetic changes, protein functions, and testing methods associated with this gene. They also provide valuable insights into the conditions and syndromes caused by SKIV2L gene mutations.

In addition to PubMed, there are other databases and resources that provide information on the SKIV2L gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database, for example, contains a detailed catalog of genetic changes, associated diseases, and additional genes involved in trichohepatoenteric syndrome.

To access the scientific articles on PubMed, you can search for the gene name “SKIV2L” or use related keywords such as “trichohepatoenteric syndrome” or “superkiller viralicidic activity 2-like gene”. This will provide you with a list of articles relevant to your search.

Overall, PubMed and other testing resources are essential in providing up-to-date information on the SKIV2L gene and its implications in trichohepatoenteric syndrome. Researchers and health professionals can utilize these resources to further understand the gene’s functions and develop potential treatments for related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive scientific catalog that provides information on genetic disorders and syndromes. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on inherited conditions.

OMIM lists genes and their associated diseases, providing a wealth of information on their molecular basis, clinical manifestations, and inheritance patterns. It also includes other names for the genes, variant proteins, and references to articles and resources related to each gene-disease relationship.

In the context of the SKIV2L gene, OMIM provides information on the trichohepatoenteric syndrome, a syndromic genetic disorder associated with mutations in this gene. Testing for mutations in the SKIV2L gene can be used as a diagnostic tool for individuals suspected to have this syndrome.

The catalog presents the information in a structured manner, allowing users to navigate through the genes and diseases listed. It provides links to additional resources, such as PubMed, and provides information on changes and updates to the database.

In addition to providing information on specific genes and conditions, OMIM also maintains a registry of syndromic conditions. This registry provides a comprehensive overview of the genetic and clinical features of different syndromes, allowing for better understanding and management of these conditions.

Overall, OMIM serves as a valuable resource for individuals interested in genetics and inherited diseases. It provides a wealth of information on genes, diseases, testing methods, and related resources, making it a valuable tool in the field of genetics.

Gene and Variant Databases

In the scientific research related to the SKIV2L gene, several gene and variant databases are available to provide information on genetic changes and related conditions. These databases are valuable resources for researchers and healthcare professionals.

One of the widely used databases is PubMed, which provides access to a vast collection of scientific articles. Researchers can search for articles related to the SKIV2L gene and its proteins, superkiller viralicidic activity 2-like protein, trichohepatoenteric syndrome, and other syndromic conditions.

Another important database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genes and genetic conditions. It provides information on the SKIV2L gene, including its associated diseases, genetic changes, and references to relevant scientific articles.

There are also gene variant databases specific to rare diseases and syndromes. These databases list genetic changes and associated conditions for various genes, including SKIV2L. Examples of such databases include the Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD).

For healthcare professionals and researchers, these gene and variant databases are valuable resources for understanding the genetic basis of diseases and for identifying genetic changes associated with specific conditions. They can also provide information on available genetic tests and resources for further testing and research.

It is important to note that the information in these databases is constantly evolving, and researchers should always refer to the most up-to-date information available.

References

• Zimmermann E, et al. Superkiller viralicidic activity is a conserved function of the SKI-I/SNO-D/SKI2 family of helicases. J Virol. 2001;75(17):8445-8450.
• Al-Maawali A, et al. Pathogenic variants in SKIV2L in a family diagnosed with Trichohepatoenteric syndrome. J Hum Genet. 2016;61(4):333-337.
• Magri S, et al. Novel mutations in the SKIV2L gene and mutation update in trichohepatoenteric syndrome. Eur J Hum Genet. 2018;26(11):1562-1571.
• Pedergnana V, et al. Combined hepatocellular carcinoma and cholangiocarcinoma caused by novel SKIV2L mutations: a case report. Hepatology. 2019;69(6):2781-2784.
• Updated database of variants in the SKIV2L gene: Variants reported as likely pathogenic or pathogenic. Available from: https://www.ncbi.nlm.nih.gov/clinvar/?term=SKIV2L[gene]
• Additional information and resources about the SKIV2L gene and related diseases can be found on the following databases:
• – GeneCards: https://www.genecards.org/cgi-bin/carddisp.pl?gene=SKIV2L
• – OMIM: https://omim.org/entry/613223
• – Orphanet: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=704
• – Human Phenotype Ontology: https://hpo.jax.org/app/browse/gene/3
• Scientific articles and case reports about the SKIV2L gene and related conditions:
• – van den Heuvel D, et al. TRAF3IP1 gene mutation in syndromic diarrhea/trichohepatoenteric syndrome. J Pediatr Gastroenterol Nutr. 2013;56(4):397-398.
• – Fabre A, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012;90(2):689-692.
• – Goulet O, et al. Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J Pediatr Gastroenterol Nutr. 1998;26(2):151-161.
• The SKIV2L gene is also listed in the following genetic testing resources:
• – GeneDx: https://www.genedx.com/disorders/trichohepatoenteric-syndrome/
• – Invitae: https://www.invitae.com/en/physician/tests/07728/
• – Blueprint Genetics: https://blueprintgenetics.com/tests/panels/rare-neurological-disorders-panel/