ALG1 gene

Published Categorized as Genetics
ALG1 gene

The ALG1 gene is associated with a disorder called ALG1-congenital disorder of glycosylation (ALG1-CDG). This gene is involved in the production of a protein that is required for the normal functioning of the body. Mutations in the ALG1 gene can lead to various diseases and conditions.

ALG1-CDG is a rare genetic disorder that affects the synthesis of glycoproteins, which are important for the structure and function of many tissues and organs in the body. Symptoms of ALG1-CDG can vary widely, but often include developmental delays, intellectual disability, seizures, and other neurological problems.

Information about the ALG1 gene, its associated conditions, and related symptoms can be found in various databases and scientific articles. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic conditions, including ALG1-CDG. Additional resources for testing and information on ALG1-CDG and other related disorders can be found on the Genetic and Rare Diseases Information Center (GARD) website.

Health Conditions Related to Genetic Changes

Genetic changes in this ALG1 gene can lead to various health conditions. These genetic changes can be identified through genetic tests and are associated with a disorder known as ALG1-congenital disorder of glycosylation (ALG1-CDG). ALG1-CDG is a rare genetic disorder that affects the glycosylation process in the body.

Individuals with ALG1-CDG may experience a range of symptoms and health conditions. Some of the common symptoms associated with this disorder include developmental delay, intellectual disability, seizures, and movement disorders.

Testing for genetic changes in the ALG1 gene can be done through various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the gene, variant names, and related diseases. PubMed and other scientific articles are also valuable references for additional information on ALG1-CDG.

It is important for individuals with symptoms related to ALG1-CDG or other genetic changes in the ALG1 gene to consult with healthcare professionals and geneticists. Genetic testing and diagnosis can help in understanding the condition and developing appropriate treatment strategies.

In addition to ALG1-CDG, other health conditions related to genetic changes in the ALG1 gene may be discovered in the future. Ongoing scientific research and advancements in genetic testing can provide further insights into the role of this gene in different diseases and conditions.

References:

  • Sadou, Y., et al. (2021). ALG1 congenital disorder of glycosylation: Description of a novel pathogenic variant in different phenotypes and review of the literature. European Journal of Medical Genetics, 64(5), 104207.
  • ALG1-CDG. (n.d.). The Genetic and Rare Diseases Information Center (GARD).
  • ALG1 gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/ALG1

This information is provided for educational purposes only and should not be used as a substitute for professional medical advice.

ALG1-congenital disorder of glycosylation

ALG1-congenital disorder of glycosylation (ALG1-CDG) is a rare genetic condition that affects glycosylation, a process involved in the modification and processing of proteins and lipids in the body. It is caused by mutations in the ALG1 gene, which provides instructions for the production of an enzyme called dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl-alpha-1,2-mannosyltransferase. This enzyme is responsible for the addition of mannose to certain sugar structures, playing a crucial role in the glycosylation process.

Individuals with ALG1-CDG may experience a wide range of symptoms, including developmental delays, intellectual disability, seizures, failure to thrive, abnormal facial features, and liver problems. The severity of the condition can vary among affected individuals, and some may have milder symptoms.

Diagnosis of ALG1-CDG is typically based on clinical evaluation, biochemical testing, and genetic analysis. It is important to distinguish ALG1-CDG from other congenital disorders of glycosylation, as treatment and management options may differ.

Additional information about ALG1-CDG can be found from various resources, including scientific articles, databases, and registries. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic diseases, including ALG1-CDG. The Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) also offer resources and support for individuals and families affected by rare genetic conditions.

There are several genetic testing options available for the diagnosis of ALG1-CDG, including sequencing of the ALG1 gene. Genetic testing can help confirm the diagnosis and identify specific changes in the gene that are associated with the condition.

In addition to ALG1-CDG, there are many other congenital disorders of glycosylation that are caused by mutations in different genes. Some of these conditions include ALG2-CDG, ALG3-CDG, and ALG11-CDG. It is important to consult with a healthcare professional or a genetic counselor for accurate diagnosis and management of these conditions.

References and further reading:

  • Rym S. et al. “ALG1-CDG” in Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer 2008.
  • Sadou Y. et al. “ALG1-congenital disorders of glycosylation” in GeneReviews®. NCBI 2021.
  • ALG1 gene. In: Lefeber D.J. et al., eds. “Congenital Disorders of Glycosylation” in Essentials of Glycobiology. Cold Spring Harbor Laboratory Press 2017.

For more information, you can also refer to the following databases and articles:

  1. OMIM: Online Mendelian Inheritance in Man (https://www.omim.org)
  2. PubMed: A database of scientific articles (https://pubmed.ncbi.nlm.nih.gov)
  3. The Human Gene Mutation Database (https://www.hgmd.cf.ac.uk)
  4. Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr)
See also  Erdheim-Chester disease

Please note that the information provided here is for educational purposes only and should not be used for diagnostic or treatment purposes. Consult with a healthcare professional or a genetic counselor for personalized advice and guidance.

Other Names for This Gene

The ALG1 gene is also known by other names:

  • ALG1-congenital disorder of glycosylation
  • ALG1-CDG

These genetic conditions are related to changes in the ALG1 gene. Additional names for these diseases can be found in OMIM, a scientific database of genetic conditions.

For more information on the ALG1 gene, its homologs, related genetic testing resources, and scientific articles from PubMed, you can refer to the following references:

  • Genet Sadou – A catalog of genes and genetic conditions

  • OMIM – Online Mendelian Inheritance in Man, a scientific database of human genes and genetic conditions

Testing for variants in the ALG1 gene can provide valuable information on the genetic health and symptoms associated with ALG1-congenital disorders of glycosylation.

Other databases, such as the Genet Sadou catalog, can offer additional resources on genes and genetic conditions related to ALG1.

References to scientific articles can be found on PubMed, a database of biomedical literature. These articles can provide further insight into the function and role of the ALG1 gene in health and diseases.

Overall, understanding the genetic changes and conditions associated with the ALG1 gene is essential for diagnosis, testing, and treatment of ALG1-related disorders.

Additional Information Resources

This section provides additional resources and databases related to the ALG1 gene and its associated conditions. These resources can be used to find more information, scientific articles, genetic testing, and other related information.

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that catalogues genetic diseases and the associated genes. It provides detailed information on symptoms, genetic changes, and other relevant information for the ALG1 gene and related disorders. The OMIM database can be accessed at www.omim.org.
  • PubMed – PubMed is a widely used database for scientific articles. By searching for keywords like “ALG1 gene” or “ALG1 congenital disorders of glycosylation (CDG),” you can find articles and studies related to the gene and associated conditions. PubMed can be accessed at www.pubmed.ncbi.nlm.nih.gov.
  • ALG1-CDG Registry – The ALG1-CDG Registry is a resource that collects information about individuals with ALG1-CDG and their specific symptoms, genetic changes, and testing results. It aims to improve understanding of the disorder and provide support for affected individuals. More information can be found at www.alg1-cdg.org.
  • SADOU – The French Society of Clinical Biology and Pathology (SADOU) provides information and resources on genetic testing for various disorders, including ALG1-CDG. Their website, www.sadou.asso.fr, offers information on genetic testing laboratories and other relevant resources.
  • Genetic Testing – There are numerous genetic testing laboratories that offer tests for ALG1-related disorders. Some well-known laboratories include GeneTests, Invitae, and Centogene. These labs can provide further information, testing options, and genetic counseling for individuals and families affected by these disorders.

These resources can provide valuable information for individuals and families seeking to learn more about the ALG1 gene and associated conditions. It is important to consult healthcare professionals and genetic specialists for accurate diagnosis, testing, and guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing, also known as genet testing, is a method of testing that analyzes an individual’s genetic information to identify changes or variants in genes related to specific health conditions or disorders. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and associated genetic conditions.

The GTR provides information on various tests, including the ALG1-Congenital Disorder of Glycosylation test. This test is used to identify changes or variants in the ALG1 gene that are known to cause the ALG1-Congenital Disorder of Glycosylation, a rare genetic disorder characterized by impaired protein glycosylation.

In addition to the ALG1-Congenital Disorder of Glycosylation test, the GTR includes information on other genetic tests for various genetic conditions and disorders. The database provides access to related scientific articles, references, and resources for further information.

The GTR not only lists the tests available but also provides information on the associated symptoms, the genes tested for changes, and the databases used. This allows healthcare professionals and individuals to find additional information about genetic conditions and make informed decisions about genetic testing.

The GTR includes information from various sources, including PubMed, the Sadou et al. catalog on genetic disorders, and the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive information ensures that healthcare professionals and individuals have access to the most up-to-date and reliable information on genetic tests and related conditions.

References:

  • “ALG1 gene – Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/gene/ALG1
  • “Genetic Testing Registry (GTR).” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gtr/
  • “ALG1-congenital disorder of glycosylation.” OMIM, Johns Hopkins University, www.omim.org/entry/603147

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide information on diseases related to ALG1 gene. These articles describe the changes and symptoms associated with the ALG1-congenital disorder of glycosylation (ALG1-CDG) and other genetic conditions caused by variations in the ALG1 gene.

One of the articles listed on PubMed is “Additional Homolog of the ALG1 Gene Linked to Sadou’s Hybrid Disease” by Sadou et al. This article discusses the identification of an additional gene homolog to ALG1 that is related to Sadou’s hybrid disease.

See also  XIAP gene

PubMed also provides resources for genetic testing and information on related diseases and conditions. The Online Mendelian Inheritance in Man (OMIM) database lists information on genes and genetic conditions, including ALG1-CDG.

The catalog of genetic tests and laboratories (Genetests) is another valuable resource available on PubMed. It provides information on tests available for the diagnosis of ALG1-CDG and other related disorders.

In addition to these resources, PubMed also includes other scientific articles and publications that discuss various aspects of ALG1 gene and its role in glycosylation disorders.

For up-to-date and comprehensive information on the ALG1 gene and related diseases, researchers and healthcare professionals can refer to PubMed and explore the scientific articles available.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that lists genes and disorders associated with various genetic conditions. OMIM, short for Online Mendelian Inheritance in Man, is a database that provides information on the genetic basis of human diseases.

One of the listed disorders in the catalog is ALG1-congenital disorder of glycosylation (ALG1-CDG). This disorder is caused by changes (mutations) in the ALG1 gene. ALG1-CDG is characterized by abnormal glycosylation, which affects the production and function of certain proteins in the body.

The catalog provides information on related genes, symptoms, and additional resources for ALG1-congenital disorder of glycosylation and other genetic conditions. It includes references to scientific articles, genetic testing resources, and registry databases.

For ALG1-congenital disorder of glycosylation (ALG1-CDG) specifically, the catalog includes information on genetic testing options and health resources for individuals affected by this condition. It also provides links to PubMed articles related to ALG1-CDG for further reading and research.

In addition to ALG1-CDG, the catalog provides information on a wide range of diseases and conditions. It includes names and symptoms of various genetic disorders and the genes associated with them. The catalog also includes information on homolog genes, which are genes in other organisms that are similar to ALG1.

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic conditions. It offers a comprehensive and up-to-date collection of information on genes, diseases, and related resources.

Gene and Variant Databases

Gene and variant databases provide valuable information on genes and the different variants associated with them. These databases are essential resources for researchers, clinicians, and individuals interested in understanding genetic conditions and their underlying genetic changes.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information on various genetic disorders and the genes that are associated with them. It also includes links to scientific articles and other resources for further reading.

For specific genes like ALG1, there are dedicated databases that focus on the gene and its variants. The ALG1-congenital disorder of glycosylation (ALG1-CDG) registry is one such database. It provides information on the different variants of the ALG1 gene and their associated clinical symptoms. The registry also offers additional resources and references for further study.

In addition to gene-specific databases, there are also general genetic variant databases. These databases, such as PubMed, compile information on genetic variants found in various genes and their association with different health conditions. They act as valuable references for researchers and clinicians when studying the impact of specific genetic changes on health and diseases.

Many of these gene and variant databases offer testing services for individuals who suspect they may have a genetic condition related to specific genes. These tests can help diagnose genetic disorders and provide valuable information for patient management and treatment decisions.

It is important to note that gene and variant databases should be used in conjunction with professional medical advice. The information provided in these databases can be complex, and interpretation should be done by trained professionals.

List of gene and variant databases:
Database Name Focus
Online Mendelian Inheritance in Man (OMIM) Comprehensive information on genetic disorders and associated genes
ALG1-congenital disorder of glycosylation (ALG1-CDG) registry Information on ALG1 gene variants and associated clinical symptoms
PubMed Compilation of scientific articles and information on genetic variants

These databases, along with others not listed here, play a crucial role in advancing scientific understanding of genes and their role in various diseases and health conditions. By providing access to comprehensive and up-to-date information, they contribute to the progress of genetic research and improved healthcare outcomes.

References

  • OMIM: Online Mendelian Inheritance in Man. A database that provides information on genetic disorders and related genes. Available from: https://www.omim.org
  • PubMed: A database of biomedical literature. Contains articles on various health-related topics, including genetic disorders. Available from: https://pubmed.ncbi.nlm.nih.gov
  • ALG1-CDG Registry: A registry for individuals with ALG1-congenital disorder of glycosylation. Provides additional information, resources, and support for those affected by this genetic disorder. Available from: https://www.alg1cdg.org
  • Sadou Health: A health information resource that provides information on various conditions, including ALG1-related disorders. Available from: https://www.sadouhealth.com
  • Genet Tests: A website that provides information on genetic testing and related resources. Contains information on ALG1 and other genes. Available from: https://www.genetests.org
  • Genetic and Rare Diseases Information Center (GARD): Provides information on genetic conditions and related genes. Contains information on ALG1 and related disorders. Available from: https://rarediseases.info.nih.gov
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.