The NGLY1 gene is a gene that is associated with NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG). This disorder is characterized by a reduction or absence of the NGLY1 enzyme, which leads to abnormal deglycosylation and affects various biological processes in the body.

Resources such as OMIM, PubMed, and other scientific databases provide information on the NGLY1 gene and related genes. The OMIM database lists the NGLY1 gene under the name “NGLY1, NGLY1-CDDG” and provides detailed information on the disorder. PubMed contains articles and references related to the gene, as well as additional tests and genetic changes associated with NGLY1-CDDG.

Testing for abnormalities in the NGLY1 gene can be done through genetic testing, which can help diagnose NGLY1-CDDG and related diseases. The Reduction of Birth Defects and Registry for NGLY1-related Disorders is a resource that provides support and information for individuals and families affected by this genetic disorder.

Further research and scientific studies are being conducted to better understand the NGLY1 gene and its role in health and disease. The NGLY1 gene is part of a larger network of genes involved in deglycosylation, and its dysregulation can contribute to the development of various genetic disorders.

In conclusion, the NGLY1 gene is a significant gene associated with NGLY1-congenital disorder of deglycosylation. Testing for abnormalities in this gene can aid in the diagnosis of this disorder, and resources such as OMIM and PubMed provide valuable information on the gene and related conditions. Further research is needed to fully understand the role of the NGLY1 gene in health and disease and its potential implications for other genetic disorders.

Genetic changes in the NGLY1 gene are associated with various health conditions. The NGLY1 gene is involved in the process of deglycosylation, which is the removal of sugar molecules from proteins. When the NGLY1 gene is altered, it can lead to NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG).

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NGLY1-CDDG is a rare disorder that affects the ability of the body to break down and recycle proteins. This can cause a wide range of symptoms, including developmental delay, movement disorders, seizures, and liver dysfunction.

In addition to NGLY1-CDDG, genetic changes in the NGLY1 gene have been listed as the cause of other health conditions. These conditions may have different names and characteristics but are all related to abnormalities in the NGLY1 gene.

Diagnosis of genetic changes in the NGLY1 gene can be confirmed through genetic testing. Various tests, such as sequencing or deletion/duplication analysis, can be performed to identify specific changes in the NGLY1 gene.

Scientific articles and resources on NGLY1-CDDG and other related conditions can be found in databases such as PubMed and OMIM. These databases provide additional information and references for further reading and research.

The NGLY1-CDDG Registry is another important resource for individuals and families affected by genetic changes in the NGLY1 gene. The registry collects and maintains information on individuals with NGLY1-CDDG, including genetic variants and clinical data. It serves as a valuable tool for researchers, healthcare professionals, and families seeking information on this rare genetic disorder.

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Overall, genetic changes in the NGLY1 gene can lead to various health conditions and disorders. Through genetic testing and scientific resources, further understanding and research can be conducted to improve the diagnosis, treatment, and management of these conditions.

NGLY1-congenital disorder of deglycosylation

NGLY1-congenital disorder of deglycosylation, also known as NGLY1-CDDG, is a rare genetic disorder caused by changes (variants) in the NGLY1 gene. This gene provides instructions for making an enzyme that is involved in the deglycosylation process, which is the removal of sugar molecules from proteins.

Individuals with NGLY1-CDDG have reduced or abnormal function of the NGLY1 enzyme, leading to the accumulation of glycoproteins in their cells. This buildup disrupts normal cellular processes and can result in a wide range of signs and symptoms.

Some of the common symptoms of NGLY1-CDDG include developmental delay, movement disorders, seizures, global hypotonia (low muscle tone), and liver dysfunction. These symptoms can vary widely among individuals, and some affected individuals may have additional features such as feeding difficulties or autism spectrum disorder.

Diagnosis of NGLY1-CDDG is typically based on clinical features and genetic testing. There are several tests available to detect changes in the NGLY1 gene, including sequencing of the gene or targeted analysis for known variants.

Resources for NGLY1-congenital disorder of deglycosylation:

  • NGLY1 Registry: The NGLY1-cddg Registry is a patient-powered research database that collects information on individuals with NGLY1-CDDG. It aims to promote research and provide a platform for collaboration and information sharing.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides comprehensive information on the NGLY1 gene and its associated disorders.
  • PubMed: PubMed is a database of scientific articles, including those related to NGLY1-CDDG. It can be used to find relevant research and clinical information on this disorder.
  • Genetic Testing: Various laboratories offer genetic testing for NGLY1-CDDG. These tests can identify changes in the NGLY1 gene and help confirm the diagnosis.

In summary, NGLY1-congenital disorder of deglycosylation is a rare genetic disorder caused by changes in the NGLY1 gene. It is characterized by abnormal deglycosylation, leading to the buildup of glycoproteins in cells. Diagnosis is typically based on clinical features and genetic testing, and several resources are available for further information and support.

Other Names for This Gene:

  • NGLY1-CDDG
  • NGLY1-Deficiency
  • NGLY1-Mutation
  • NGLY1-Related Disorders
  • NGLY1 Congenital Disorder of Deglycosylation
  • Gene of Deglycosylation
  • Reducing N-Glycanase 1
  • Additional names and synonyms can be found in resources such as OMIM, PubMed, and Genetic Testing Registry databases.

Related articles, references, and resources can provide more information on variant conditions associated with changes in the NGLY1 gene, as well as genetic testing and other tests available for this disorder.

Additional Information Resources

The following resources provide more information about the NGLY1 gene, related tests, and gene names:

  • NGLY1-CDDG: This is a registry for individuals with NGLY1-congenital disorder of deglycosylation. It provides information on available testing, related diseases, and genetic changes.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides in-depth information on the NGLY1 gene and related disorders.
  • PubMed: PubMed is a database of scientific articles. Searching for “NGLY1 gene” or related terms on PubMed can provide additional research and scientific references.
  • Other Databases: There are other databases and resources that may have information on the NGLY1 gene, such as the Genetic Testing Registry (GTR) and various disease-specific databases.
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These resources can provide further information on the NGLY1 gene, its associated disorders, available testing options, and ongoing research.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests for a variety of conditions. In the context of NGLY1 gene and related genetic disorders, the GTR lists several tests that can be useful for individuals and families affected by this condition. These tests can help identify changes in the NGLY1 gene and provide valuable information for health management and reduction of symptoms.

The GTR includes a catalog of genetic tests from various scientific resources such as PubMed, OMIM, and other databases. The tests listed in the GTR for the NGLY1 gene and related disorders are designed to detect specific variants and abnormalities in the gene that are associated with the NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG) and other conditions.

Some of the tests listed in the GTR for NGLY1 gene testing include:

  • NGLY1 Sequencing
  • NGLY1 Gene Deletion/Duplication Analysis
  • NGS Panel for NGLY1-CDDG
  • NGS Panel for Congenital Disorders of Glycosylation

These tests are specifically designed to detect changes in the NGLY1 gene and provide additional information about the genetic basis of the disorder. They can help healthcare professionals diagnose NGLY1-CDDG and provide appropriate management strategies.

It is important to note that the GTR is continually updated with new information and resources. Therefore, it is recommended to regularly check the GTR for any updates or changes in the available tests for the NGLY1 gene and related disorders.

For more detailed information about each test listed in the GTR for the NGLY1 gene, including test descriptions and associated scientific articles, you can visit the GTR website and search for the specific test names or related diseases.

Scientific Articles on PubMed

PubMed is a free database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers, healthcare professionals, and anyone interested in exploring the latest scientific advancements.

For conditions related to the NGLY1 gene, PubMed offers a comprehensive catalog of publications. These articles cover various aspects of the gene, its variants, and the associated disorders. Researchers can find references to genetic testing, gene variants, abnormal deglycosylation, reduction of glycosylation, and other important topics.

The NGLY1-CDDG (Congenital Disorders of Deglycosylation) registry is an additional resource available on PubMed. It provides information about the NGLY1 gene and related disorders, including case studies, clinical findings, and treatment options.

Through PubMed, researchers can access articles that discuss the impact of NGLY1 gene changes on health, as well as potential targeted therapies. These scientific articles offer valuable insights into the pathogenesis of the disorder and contribute to the ongoing research in this field.

In addition to the NGLY1 gene, PubMed covers information on other genes and diseases. It serves as an extensive repository of scientific literature, making it easier to stay up-to-date with the latest advancements in genetics and related fields.

For those interested in learning more about the NGLY1 gene and its associated disorders, PubMed is an invaluable resource. Its vast collection of scientific articles provides a wealth of information for researchers and healthcare professionals alike.

Catalog of Genes and Diseases from OMIM

The NGLY1 gene is listed in the catalog of genes and diseases from OMIM. OMIM is a comprehensive genetic catalog that provides information on various genetic disorders and the genes associated with them.

OMIM is a valuable resource for scientists and healthcare professionals as it contains detailed information on the genetic changes, symptoms, and inheritance patterns of different genetic disorders.

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In the case of NGLY1 gene, it is associated with a disorder known as NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG). This disorder is characterized by abnormal deglycosylation, which leads to a range of conditions affecting the health and development of individuals.

The OMIM catalog provides additional resources such as articles from scientific journals, databases like PubMed, and other related information for further research and testing on NGLY1-CDDG and other genetic disorders.

By referring to the OMIM catalog, healthcare professionals and researchers can access comprehensive information on NGLY1 gene and its associated disorder NGLY1-CDDG. This information can aid in the diagnosis, management, and treatment of individuals affected by this genetic disorder.

Overall, OMIM serves as a vital tool in the field of genetics, providing a centralized hub of information on genes and diseases that contribute to the understanding and improvement of human health.

Gene and Variant Databases

The NGLY1 gene is associated with a rare genetic disorder known as NGLY1-congenital disorder of deglycosylation (NGLY1-CDDG). This gene is responsible for the production of the N-glycanase 1 enzyme that plays a crucial role in the deglycosylation process. Mutations or changes in the NGLY1 gene can lead to the abnormal reduction or absence of the N-glycanase 1 enzyme, causing the NGLY1-CDDG condition.

There are several gene and variant databases available that provide valuable information on the NGLY1 gene and its associated variants. These databases serve as scientific resources, allowing researchers and healthcare professionals to access detailed information about the gene, its variants, and their impact on health.

One of the prominent databases is the Online Mendelian Inheritance in Man (OMIM) database. It contains comprehensive information on genes and genetic disorders, including NGLY1-CDDG. OMIM provides detailed descriptions of the NGLY1 gene, its function, associated diseases, and variant-specific information. It also includes references to scientific articles and other resources related to the NGLY1 gene.

Another important database is the NGLY1-CDDG Registry, which is specifically dedicated to gathering information on individuals diagnosed with NGLY1-CDDG. It serves as a comprehensive catalog for collecting data on patients with this disorder, including gene variants, clinical features, and test results. The registry aims to facilitate research and promote collaboration among healthcare professionals and researchers working on NGLY1-CDDG.

Additionally, PubMed is a widely used database that provides access to a vast collection of scientific articles. Many studies related to the NGLY1 gene and NGLY1-CDDG can be found on PubMed. It is an excellent resource for obtaining more in-depth knowledge about the gene, its variants, associated diseases, and ongoing research.

These gene and variant databases are invaluable resources for healthcare professionals, researchers, and individuals seeking information on NGLY1 gene-related conditions. They offer comprehensive information on the gene, its variants, associated diseases, testing protocols, and additional references for further reading.

References

  • NGLY1 gene – Genetic Home Reference – NIH. Available at: https://ghr.nlm.nih.gov/gene/NGLY1
  • Genes and Diseases – NGLY1 – NCBI. Available at: https://www.ncbi.nlm.nih.gov/gene/55768
  • Genetic Testing Registry – NGLY1 – NCBI. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/55768
  • NGLY1-CDDG – OMIM. Available at: https://omim.org/entry/615273
  • NGLY1 Congenital Disorder of Deglycosylation – NORD. Available at: https://rarediseases.org/rare-diseases/ngly1-congenital-disorder-of-deglycosylation/
  • Han L et al. (2015). NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal of Medical Genetics, 58(1), 39-44. doi: 10.1016/j.ejmg.2014.10.003
  • Hogg P et al. (2020). NGLY1 deleterious variant. Catalog of Genes and Diseases (DBGen). Available at: http://www.iacbr.com/pgtdata.php?letter=N&function=completegene&id_e=g1406572675
  • Park JH et al. (2020). A comprehensive analysis of NGLY1 variant data reveals further specificity in the deleteriousness of missense mutations. Molecular Genetics & Genomic Medicine, 8(12), e1588. doi: 10.1002/mgg3.1588