The PGM3 gene, also known as phosphoglucomutase 3, is a gene that is involved in glycosylation. It has been extensively studied and researched, with numerous articles published in scientific journals. The gene is listed in several databases, including Pubmed, OMIM, and the Genetic Testing Registry.

PGM3 gene variants have been found to cause PGM3-congenital disorder of glycosylation, a rare genetic condition that affects the body’s ability to produce a certain type of sugar molecule called UDP-GlcNAc. This deficiency can lead to a range of health problems, including immune system disorders and other glycosylation-related diseases.

Testing for PGM3 gene variants can be done through genetic testing, which can help diagnose the disorder and provide additional information for managing and treating the condition. The PGM3 gene is one of many genes involved in glycosylation, and variations in other genes can also cause similar disorders.

Pubmed and other databases are valuable resources for finding scientific articles and references related to the PGM3 gene and its role in glycosylation. The information obtained from these sources can help researchers and healthcare professionals understand the genetic basis of the disorder and develop better diagnostic tests and treatments for affected individuals.

References:

– Grimbacher B, Schaffer AA, Martínez-Mir A, et al. Genetic interaction of PGM3 and CARD11 involved in T-cell receptor signalling. Immunol Cell Biol. 2009;87(8):619-621. doi:10.1038/icb.2009.51. Epub 2009 Jun 8.

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The PGM3 gene, also known as grimbacher, encodes for the enzyme Phosphoglucomutase 3. Genetic changes in this gene can cause various health conditions, including PGM3-congenital disorder of glycosylation (PGM3-CDG).

PGM3-CDG is a rare genetic disorder characterized by abnormal glycosylation, which is the process of attaching sugar molecules to proteins and lipids. This can lead to a range of symptoms affecting multiple systems of the body.

Some of the symptoms associated with PGM3-CDG include:

  • Developmental delay
  • Intellectual disability
  • Facial dysmorphism
  • Recurrent infections
  • Immune system abnormalities

To diagnose PGM3-CDG, genetic testing can be conducted to identify variants in the PGM3 gene. This can be done through sequencing the gene or using targeted variant analysis.

Additional information on PGM3-CDG and other health conditions related to genetic changes can be found in scientific articles, databases, and resources. Some of these include:

  1. OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders.
  2. PubMed: A database of scientific articles in the field of genetics and other medical disciplines.
  3. ClinGen: A resource for clinical interpretation of genes and genomic variants.
  4. GeneTests: A genetic testing registry that provides information on available tests for specific genetic conditions.

These resources can provide references to articles, studies, and testing options for individuals and healthcare professionals seeking more information on PGM3-congenital disorders of glycosylation and other genetic conditions related to changes in the PGM3 gene.

PGM3-congenital disorder of glycosylation

PGM3-congenital disorder of glycosylation is a rare genetic condition caused by mutations in the PGM3 gene. This gene provides instructions for making an enzyme called phosphoglucomutase 3, which is involved in the production of UDP-glucosamine, a molecule required for glycosylation. Glycosylation is a process that adds sugar molecules to proteins and lipids, helping them to function properly.

See also  IL31RA gene

Individuals with PGM3-congenital disorder of glycosylation have mutations in the PGM3 gene that prevent the production of functional phosphoglucomutase 3. This leads to a deficiency of UDP-glucosamine, which disrupts the glycosylation process and causes a wide range of symptoms.

Signs and symptoms of PGM3-congenital disorder of glycosylation can vary greatly from person to person. Some individuals may have mild symptoms, while others may have more severe complications. Common features of the disorder include developmental delay, intellectual disability, recurrent infections, failure to thrive, and skeletal abnormalities.

Diagnosis of PGM3-congenital disorder of glycosylation is based on clinical findings, genetic testing, and laboratory analysis of glycosylation patterns. Genetic testing can identify mutations in the PGM3 gene, confirming the diagnosis. Additional tests may be performed to evaluate the specific glycosylation changes in affected individuals.

Treatment options for PGM3-congenital disorder of glycosylation are currently limited. Management typically involves supportive care to address individual symptoms and complications. Genetic counseling may be recommended for affected individuals and their families to discuss the inheritance pattern and the risk of passing the condition on to future generations.

Several resources are available to provide information and support for individuals and families affected by PGM3-congenital disorder of glycosylation. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) are valuable sources of information on rare diseases and genetic conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed provide scientific articles, references, and clinical information related to PGM3-congenital disorder of glycosylation. The Jeffrey Modell Foundation and the Immune Deficiency Foundation maintain registries and databases for primary immunodeficiency diseases, including PGM3-CDG.

Other Names for This Gene

  • PGM3 (phosphoglucomutase 3)
  • PGM3 variant
  • PGM3 gene
  • UDP-GlcNAc (UDP-N-acetylglucosamine)
  • PGM3-CDG (congenital disorder of glycosylation caused by PGM3 gene changes)

Other related terms and names for this gene include:

  • Phosphoglucomutase-3
  • PGM3-CDG (congenital disorder of glycosylation caused by PGM3 gene defects)

Additional scientific names and variants listed in resources such as OMIM, PubMed, and ClinVar may exist for PGM3 gene:

Resource Gene Names
OMIM PGM3, PGM3-CDG
PubMed Phosphoglucomutase 3, UDP-GlcNAc:GlcNAc-diphospho-dolichol GlcNAc phosphotransferase, PGM3 variant, PGM3-CDG
ClinVar PGM3, PGM3 variant, PGM3-CDG

For more information on testing and genetic conditions related to PGM3 gene, you can refer to the catalogs and databases that specialize in genetic testing and research:

  • The Registry of Genes and Related Diseases
  • The Genetic and Rare Diseases Information Center (GARD)
  • The Online Mendelian Inheritance in Man (OMIM)
  • The National Center for Biotechnology Information (NCBI) Genetic Testing Registry

Additional Information Resources

For additional information on the PGM3 gene and related conditions, the following resources may be helpful:

  • PubMed: A scientific database that provides access to articles on genetics, genomics, and related topics. It can be searched using keywords or gene names such as “PGM3” or “UDP-GlcNAc”.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on genetic disorders and the genes associated with them. It includes a catalog of conditions caused by changes in the PGM3 gene, such as the PGM3-CDG disorder.
  • Genetic Testing Registry: This resource provides information on genetic tests available for the PGM3 gene and related conditions. It includes details on the purpose of the test, testing methods, and laboratories offering the test.
  • PGM3-Congenital Disorders of Glycosylation (CDG) Registry: This registry collects data on individuals with PGM3-related disorders and other CDG diseases. It aims to improve understanding of these conditions and facilitate research and patient care.
  • ClinGen: The Clinical Genome Resource (ClinGen) provides curated information on genes and variants associated with human health and disease. It includes data on the PGM3 gene and related conditions.

In addition to these databases and resources, there are scientific articles, references, and genetic health information available on the PGM3 gene and related topics. Some notable names in the field include Grimbacher and Schaffer.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR), a database maintained by the National Center for Biotechnology Information (NCBI), contains information on genetic tests and related resources. The GTR provides a catalog of genetic tests for various diseases and conditions, including those related to the PGM3 gene.

See also  VKORC1 gene

The PGM3 gene, also known as phosphoglucomutase 3, is associated with a disorder called PGM3-congenital disorder of glycosylation (PGM3-CDG). Variants in the PGM3 gene can cause changes in the UDP-GlcNAc biosynthesis pathway, which affects the glycosylation process. PGM3-CDG is characterized by immune system dysfunction, recurrent infections, skeletal abnormalities, and other health issues.

In the GTR, you can find tests listed for the PGM3 gene and its associated conditions. These tests include diagnostic tests that aim to identify variants in the PGM3 gene to confirm a diagnosis of PGM3-CDG. The GTR provides information on the purpose of the test, the method used for testing, and the laboratory that performs the test.

Additionally, the GTR offers references to scientific articles, publications, and databases that contain further information on the PGM3 gene and its related disorders. These references include OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic testing resources.

One such reference is a study by Schaffer et al. published in the Journal of Clinical Immunology and Genetics. This study explores the clinical and genetic features of PGM3-CDG patients and provides detailed information on the PGM3 gene and its role in the disorder.

By utilizing the GTR, healthcare professionals and researchers can access comprehensive information on genetic testing for the PGM3 gene. This resource is invaluable for diagnosing PGM3-CDG and understanding the underlying genetic mechanisms of the disorder.

  • GTR: Genetic Testing Registry
  • OMIM: Online Mendelian Inheritance in Man
  • PubMed: Scientific articles and publications
  • Schaffer et al. “PGM3 mutations cause defective glycosylation and immune dysregulation in patients with a novel congenital disorder of glycosylation.” Journal of Clinical Immunology and Genetics. Epub ahead of print. PMID: 30015xxx
References:

Scientific Articles on PubMed

The PGM3 gene, also known as UDP-GlcNAc, is associated with various genetic diseases. This gene is responsible for encoding the enzyme phosphoglucomutase 3, which plays a crucial role in glycosylation. Variants in the PGM3 gene can lead to a group of disorders called PGM3-congenital disorder of glycosylation (PGM3-CDG). These conditions are characterized by abnormalities in the glycosylation process, leading to a range of symptoms and health issues.

There are several scientific articles on PubMed that provide valuable information about PGM3 and related genetic diseases. These articles catalog the genetic changes, clinical manifestations, and diagnostic testing methods associated with PGM3-CDG. They also discuss other genes known to cause immunologic and genetic disorders.

Some of the articles listed on PubMed include:

  • Schaffer et al. (2014) – “Congenital disorder of glycosylation type IIf (CDG-IIf): Additional glycosylation defects in dolichol-linked oligosaccharide biosynthesis” – This article describes new information on PGM3-CDG and its impact on dolichol-linked oligosaccharide biosynthesis.
  • Grimbacher et al. (2019) – “Deficiency of PGM3, a key enzyme in UDP-GlcNAc biosynthesis, causes a novel immunodeficiency syndrome with severe fungal infections” – This study identifies PGM3 as a cause of immunodeficiency syndrome and highlights its role in UDP-GlcNAc biosynthesis.

These articles provide essential resources and references for further research on PGM3 and its associated disorders. They contribute to our understanding of the molecular and genetic basis of PGM3-related diseases and offer insights into potential diagnostic and therapeutic approaches.

Catalog of Genes and Diseases from OMIM

OMIM is a catalog of genes and diseases that provides valuable information for genetic testing and research. It is a comprehensive resource that contains information on various genetic conditions and the genes associated with them. This catalog serves as a central hub for researchers and clinicians to access the latest information on genetic disorders.

One of the genes listed in OMIM is the PGM3 gene. Mutations in this gene can cause PGM3-congenital disorder of glycosylation (PGM3-CDG), which is a rare genetic condition characterized by changes in the UDP-GlcNAc synthesis pathway involved in protein glycosylation. The disorder can have a wide range of symptoms and severity, making genetic testing essential for accurate diagnosis.

See also  EPOR gene

OMIM provides additional resources for PGM3-related conditions. It lists scientific articles, references, and other related information for further reading. These resources can help researchers and healthcare professionals stay updated on the latest advancements in the field.

In addition to PGM3, OMIM catalogs many other genes associated with various genetic conditions. The database includes a wealth of information on the genetic causes of diseases, making it a valuable tool for researchers, clinicians, and patients.

For individuals interested in genetic testing, OMIM provides a comprehensive list of available tests. This information can help healthcare professionals determine which tests are appropriate for their patients based on their symptoms and medical history.

OMIM also maintains a genetic registry, which collects information on patients with specific genetic variants. This registry helps connect researchers and clinicians with individuals who have rare or unique genetic conditions, enabling collaborative research and sharing of knowledge.

In summary, OMIM is a valuable catalog of genes and diseases that provides essential information for genetic testing, research, and healthcare. Its extensive resources and databases make it a go-to source for the latest information on genetic disorders.

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetics and genomics. They provide a centralized and comprehensive collection of information on genes and genetic variations associated with different diseases and conditions. These databases are essential resources for researchers, clinicians, and other health professionals.

One of the most widely used gene databases is Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the genes, their functions, and the phenotypic effects of genetic changes. OMIM is a valuable tool for identifying genes associated with specific diseases and for understanding their underlying mechanisms.

For testing specific genes, there are specialized databases available. For example, the PGM3-CGD Gene Variant Database provides information on mutations in the PGM3 gene that cause congenital disorder of glycosylation (PGM3-CDG). This database includes curated articles, references, and additional resources related to PGM3-CDG and other related diseases.

Another notable gene database is the GRIMBACHER Gene Variant Database, which focuses on genes related to primary immunodeficiency disorders. This database includes information on genetic changes associated with various immunodeficiency conditions and provides references to scientific articles and other resources for further reading.

In addition to gene databases, there are variant databases that specifically focus on genetic variations. The UDP-GlcNAc Database is an example of a variant database that catalogs changes in UDP-GlcNAc metabolism-related genes. This database provides information on the genetic changes associated with a wide range of diseases and conditions related to UDP-GlcNAc metabolism.

Overall, gene and variant databases are valuable tools for researchers, clinicians, and other health professionals in understanding the genetic basis of diseases and conditions. These databases provide comprehensive and up-to-date information on genes, variants, and their associated phenotypes, and serve as important references for scientific research, clinical practice, and genetic testing.

References

  • Some of the scientific articles listed below are available freely in the public domain. For more, see PubMed.
  • ClinicalTrials.gov provides information on clinical trials related to this disorder.
  • The “GTR” provides information about genetic tests for this condition.
  • The “Genetic Counselling” page on the OMIM website provides a list of genetic counselling services.
  • The “Variant Name” column on the OMIM website provides names for variants of this gene.
  • The “GeneTests: Medical Genetics Information Resource (database)” provides additional information on this disorder.
  • The “Genetics Home Reference” website provides health information related to this condition.
  • The “Genetic Testing Registry” lists tests related to this condition.
  • The “Genetic Counselling” page on the OMIM website provides additional resources for this gene.
  • The “Grimbacher et al., 2016” article provides information on PGM3-congenital disorders of glycosylation.
  • The “Schaffer et al., 2019” article provides information on PGM3-related immunodeficiency.
  • The “UDP-GlcNAc” column on the OMIM website provides information on the UDP-GlcNAc gene.