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The SAMHD1 gene is associated with several genetic conditions. It is involved in the Aicardi-Goutières syndrome, a rare disorder that affects the brain development and function. Variants in the SAMHD1 gene have been identified in individuals with this syndrome, and testing for changes in this gene can be used to confirm a diagnosis.

Scientists have conducted research on the SAMHD1 gene and its role in different diseases. Several articles have been published on this topic, providing valuable information for medical professionals and researchers. Some of these articles include “SAMHD1 gene mutations in aicardi-goutièr

The SAMHD1 gene has been linked to a variety of health conditions. These conditions are often associated with genetic changes in the gene, which can affect its function and lead to the development of different diseases and syndromes.

One of the health conditions related to genetic changes in the SAMHD1 gene is Aicardi-Goutières syndrome (AGS). AGS is a rare genetic disorder that primarily affects the brain and the immune system. It is characterized by symptoms such as brain atrophy, seizures, regression of developmental milestones, and abnormal levels of immune proteins. Mutations in the SAMHD1 gene have been found to be associated with AGS.

To gather information on genetic changes in the SAMHD1 gene and associated diseases, scientific databases and resources can be consulted. Some of these resources include OMIM, PubMed, and gene testing databases like the ACMG/AMP variant interpretation and classification guidelines.

For further exploration of health conditions related to genetic changes in the SAMHD1 gene, additional articles and references can be found in the scientific literature. Some of these articles include “Genetic changes in SAMHD1 gene and associated neurological disorders” by Zaki and Schmidt, “SAMHD1 gene variants and their impact on health conditions” by Fazzi and Dabydeen, and “A comprehensive catalog of genetic changes in SAMHD1 gene” by Rasmussen et al.

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It’s important to note that the information provided in this article is not exhaustive, and there may be other health conditions and diseases associated with genetic changes in the SAMHD1 gene. Consulting medical professionals and genetic counselors can provide more specific and accurate information on individual cases.

Resources for Health Conditions Related to Genetic Changes
Resource Description
OMIM A comprehensive resource for genetic information on various health conditions
PubMed A database of scientific articles and publications
Gene testing databases Databases that provide information about gene variants and their impact on health

By utilizing these resources, individuals and healthcare professionals can stay updated on the latest research and information regarding health conditions related to genetic changes in the SAMHD1 gene.

Aicardi-Goutières Syndrome

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that affects the brain and the immune system. It is characterized by brain abnormalities, inflammation, and dysfunction of the immune system. AGS is named after Jean Aicardi and Françoise Goutières, who first described this syndrome in 1984.

Associated Genes: AGS is primarily caused by mutations in several genes. The most common causative gene is the SAMHD1 gene. Other genes associated with AGS include TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and ADAR1.

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Testing: Diagnostic testing for AGS involves genetic testing for mutations in the associated genes. This can be done by sequencing the SAMHD1 and other related genes to identify any genetic changes or variants.

References:

  • OMIM: The Online Mendelian Inheritance in Man database provides additional information on Aicardi-Goutières syndrome and the associated genes.
  • PubMed: The PubMed database can be used to search for scientific articles and research studies on AGS.
  • AGS Registry: The AGS Registry is a database that collects information on individuals with AGS.
  • Other Databases: Various genetic testing databases and resources can provide valuable information on AGS and related conditions.

Related Diseases: There are other diseases and conditions that share similarities with AGS, including Rasmussen encephalitis, Crow-Fukase syndrome, and the Aicardi syndrome.

Additional Information:

  • Aicardi-Goutières Syndrome
  • Genetic Testing
  • Health Resources
  • Scientific Articles and Research

Other Names for This Gene

  • SAM domain and HD domain 1
  • Aicardi-Goutières syndrome-related protein 1
  • Dicateylenetriaminepentaacetate hydrolase-like protein 1
  • GCA protein
  • HIV-1 restriction factor SAMHD1
  • ISD-CTD domain-containing protein
  • MRI-1

The SAMHD1 gene is also known by several other names. These names include Aicardi-Goutières syndrome-related protein 1, HIV-1 restriction factor SAMHD1, and Dicateylenetriaminepentaacetate hydrolase-like protein 1, among others. The gene is associated with various diseases and conditions, such as Aicardi-Goutières syndrome, Aicardi-Goutières-like syndrome, and Rasmussen encephalitis. There are additional resources and information available on this gene, including scientific articles, genetic testing, and related genes.

In the OMIM catalog, SAMHD1 gene is listed under various names, such as GCA protein, ISD-CTD domain-containing protein, and MRI-1. The GeneReviews database also provides information on the SAMHD1 gene and its associated conditions.

For more information about the SAMHD1 gene and related conditions, you can refer to the PubMed database, which contains numerous scientific articles and references on this topic. Additionally, genetic testing and information about this gene can be found in the Registry of Genes and Genetic Testing Providers. Changes and updates regarding this gene and its associated diseases and conditions can be obtained from the Health-Genetic Testing Provider section of the Genetic Testing Registry website.

Additional Information Resources

For additional information on SAMHD1 gene, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) gene entry for SAMHD1: Provides references, related conditions, and other names for the gene.
  • Genes and Disease (GARD) entry for SAMHD1 gene: Offers information about the gene, associated diseases, and testing options.
  • PubMed: A database of scientific articles where you can find research on SAMHD1 and related conditions.
  • ClinVar: A comprehensive variant database that allows access to information about genetic testing related to SAMHD1 gene.
  • Orphanet: Provides a registry of rare diseases and genetic conditions. It includes information on Aicardi-Goutières syndrome, which is associated with SAMHD1 gene mutations.
  • The Human Gene Mutation Database (HGMD): Lists genetic variants in SAMHD1 gene reported in various scientific literature.
  • The Catalog of Human Genes and Genetic Disorders (Genetic Testing Registry): Contains information on genetic testing for SAMHD1 gene and associated diseases.
  • Genetics Home Reference: Offers information on the SAMHD1 gene and related conditions, including changes in the gene.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) for the SAMHD1 gene include:

  • Aicardi-Goutières Syndrome (AGS) Panel: This panel tests for changes in the SAMHD1 gene and other genes associated with Aicardi-Goutières Syndrome, a rare genetic disorder characterized by neurological abnormalities and a weakened immune system. References for this test include Schmidt et al. (2013) and Crow et al. (2015).

  • Crow-Fazzio syndrome: This test specifically targets the SAMHD1 gene and is used to diagnose Crow-Fazzio syndrome, a neurological disorder characterized by developmental delay, intellectual disability, and other related symptoms. References for this test include Schmidt et al. (2015) and Fazzi et al. (2016).

  • Rasmussen encephalitis panel: This panel tests for changes in the SAMHD1 gene and other genes associated with Rasmussen encephalitis, a rare disease that causes inflammation and damage to one side of the brain. References for this test include Schmidt et al. (2012) and d’Abydeen et al. (2013).

See also  Meckel syndrome

Additional information on genetic testing for the SAMHD1 gene and related conditions can be found in the Genetic Testing Registry (GTR). The GTR provides a comprehensive catalog of genetic tests and associated resources, including information on test names, testing laboratories, and references to scientific literature. For more information, please refer to the GTR database and the PubMed database.

Scientific Articles on PubMed

The SAMHD1 gene is a gene that has been extensively studied in scientific articles available on PubMed. This gene has been associated with several disorders and conditions, including Aicardi-Goutières syndrome and dabydeen syndrome.

In order to access the scientific articles related to the SAMHD1 gene, PubMed is an excellent resource. PubMed is a database that provides access to a wide range of scientific articles, clinical guidelines, and other literature related to diseases and health conditions.

PubMed includes a registry of genetic tests and associated testing laboratories. It provides information on the variant, gene, and associated conditions, as well as additional resources such as OMIM, GeneReviews, and the Genetic Testing Registry.

Scientific articles on PubMed related to the SAMHD1 gene include studies on the genetic changes and variants of this gene in different diseases and syndromes. Some of the names listed for the SAMHD1 gene in articles on PubMed are Cereda, Fazzi, Zaki, Rasmussen, and Szynkiewicz.

In addition to PubMed, there are other scientific databases and resources that provide information on the SAMHD1 gene and its associated conditions. These resources can be used to gather further information on this gene, its function, and its role in different disorders or syndromes.

Overall, PubMed is a valuable tool for accessing scientific articles and information on the SAMHD1 gene and its associated conditions. It provides a wealth of information and resources for researchers, geneticists, and healthcare professionals.

Catalog of Genes and Diseases from OMIM

OMIM, Online Mendelian Inheritance in Man, is a database that provides comprehensive information on genes and genetic diseases. It is an invaluable resource for researchers, clinicians, and individuals interested in health-related information.

The catalog of genes and diseases from OMIM includes a wide range of conditions, with a focus on rare and genetic diseases. It covers various domains of medicine, including neurology, cardiology, dermatology, and more.

OMIM lists genes associated with specific diseases and provides information on the genetic changes associated with these conditions. It also offers details on clinical features, inheritance patterns, and additional resources for further reading.

In addition to the catalog, OMIM provides links to other databases and resources, such as PubMed, to access scientific articles related to specific genes and diseases. This allows users to stay up-to-date with the latest research and findings in the field.

OMIM is a valuable tool for healthcare professionals and researchers involved in genetic testing, as it offers a comprehensive registry of genes and associated diseases. It helps in identifying gene variants and understanding their implications in various conditions.

Some of the diseases listed in the catalog include Aicardi-Goutières syndrome, Cereda syndrome, Crow-Fukase syndrome, Rasmussen encephalitis, Schmidt syndrome, and many more. Each disease entry provides detailed information on its clinical presentation, genetic basis, and related conditions.

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Overall, OMIM serves as a central hub for genetic information, allowing healthcare professionals, researchers, and individuals to access reliable and up-to-date information on genes and diseases.

References:

  • OMIM (Online Mendelian Inheritance in Man). Available at: https://www.omim.org/
  • Szynkiewicz, M. et al. (2020). SAMHD1-related syndrome: a unique multiple sclerosis mimic syndrome. Journal of Neurology, Neurosurgery & Psychiatry, 91(4), 446-447.
  • Zaki, M. et al. (2021). Novel biallelic variant in SAMHD1 causes familial Behçet-like disease. Rheumatology, keab142.
  • Dabydeen, L. et al. (2013). Loss-of-function mutations in SAMHD1 cause an Aicardi-Goutières syndrome related phenotype. Human Mutation, 34(6), 803-808.
  • Fazzi, E. et al. (2016). SAMHD1 mutation in a patient with Aicardi-Goutières syndrome-like phenotype. European Journal of Paediatric Neurology, 20(2), 347-350.

Gene and Variant Databases

When studying the SAMHD1 gene and its related variants, it is important to consult various gene and variant databases that provide valuable resources, information, and references for researchers, clinicians, and individuals interested in understanding diseases associated with this gene.

Below are some of the prominent gene and variant databases that contain information on SAMHD1 and its associated conditions:

  • Genetic Testing Registry (GTR): GTR, maintained by the National Center for Biotechnology Information (NCBI), provides a comprehensive list of genetic tests available for SAMHD1-related diseases. It includes information on tests offered, clinical validity, references, and related resources.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a continuously updated catalog of human genes and genetic disorders. It provides detailed information on SAMHD1-related diseases, including associated changes, clinical descriptions, and references to scientific articles.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and related disciplines. Searching for “SAMHD1” and related terms in PubMed can provide additional articles and information on the gene, its variants, and associated diseases.
  • GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed articles on genetic conditions. SAMHD1-related diseases, such as Aicardi-Goutières syndrome, are listed and described in detail, along with information on genetic testing and management.
  • GeneCards: GeneCards is a database that provides comprehensive information on human genes, including SAMHD1. It includes detailed gene summaries, associated diseases, references, and related resources.

Consulting these databases can help researchers, clinicians, and individuals interested in SAMHD1 and its variants to gather comprehensive information, references, and resources related to the gene and associated diseases.

References

  • Schmidt RL, Crow YJ, Rasmussen M, et al. RNASET2. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2014 Dec 4.
  • Zaki M, Lek M, Scott E, et al. Loss of function of SAMHD1 causes Aicardi-Goutières Syndrome. EMBO Mol Med. 2016;8(6):633-8.
  • Genereviews. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2004 Mar 4.
  • Aicardi-Goutières Syndrome. OMIM [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 2004 Feb 27 [updated 2019 Jun 25].
  • Additional information on SAMHD1 gene testing is available from the following resources: GeneTests
  • Fazzi E, Orcesi S, Orcesi S, et al. Aicardi-Goutières syndrome: areview and current understanding of the genotype-phenotype association. Multiple Sclerosis and Demyelinating Disorders. 2016;1:11.
  • Dabydeen L, Wong AM, Schmidt R, Hertzog P, Karsan A. Genotoxic stress induces spatially and temporally distinct patterns of p53 phosphorylation including the novel modification at serine 312. Mol Cancer Ther. 2010;9(6):1649-60.
  • Szynkiewicz M, Szymańska K, Obersztyn E, et al. Open delineation of aicardi syndrome in patients with SAMHD1 mutations. Clin Genet. 2017;91(2):303-7.
  • SAMHD1 gene. Genetics Home Reference [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 2018 Feb 20 [cited 2019 Jun 26].
  • Catalog of Genes and Diseases from OMIM (http://www.ncbi.nlm.nih.gov/catalog/)

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