The PMM2 gene is associated with a genetic disorder called PMM2-congenital disorder of glycosylation (PMM2-CDG). This condition affects the production of a protein called phosphomannomutase 2, which is responsible for an essential step in the glycosylation process.
Changes in the PMM2 gene can result in a variant form of PMM2-CDG, which can lead to a range of health conditions and symptoms. PMM2-CDG is a congenital disorder, meaning that it is present from birth. It is a rare condition, and its symptoms can vary widely depending on the specific genetic changes involved.
Information on the PMM2 gene and related conditions can be found in various scientific databases, such as OMIM, PubMed, and other genetic catalogs and resources. These databases list articles, studies, and references on the gene, its associated disorders, and genetic testing options. Additional testing and diagnostic resources can also be found on the PMM2-CDG registry, a platform that provides information and support for individuals affected by this disorder.
In conclusion, the PMM2 gene plays a crucial role in the glycosylation process, and changes in this gene can lead to PMM2-congenital disorder of glycosylation. Various scientific databases and resources provide information and references on this genetic variant and its associated health conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the PMM2 gene can result in a variety of health conditions. The main disorder associated with changes in this gene is PMM2-congenital disorder of glycosylation (PMM2-CDG), also known as congenital disorder of glycosylation type Ia (CDG-Ia). PMM2-CDG is a rare genetic disorder that affects the body’s ability to produce normal proteins and glycans, leading to a wide range of symptoms.
The PMM2 gene provides instructions for making an enzyme called phosphomannomutase 2. This enzyme is involved in a process called protein glycosylation, which is essential for the proper functioning of many proteins in the body. Mutations in the PMM2 gene can result in reduced or absent enzyme activity, leading to the production of abnormal proteins and glycans.
Individuals with PMM2-CDG may experience a variety of symptoms, including developmental delay, intellectual disability, seizures, liver and kidney dysfunction, and problems with blood clotting. Other health conditions related to PMM2 gene changes may include neurologic abnormalities, skeletal abnormalities, and immune system dysfunction.
Genetic testing is available to detect changes in the PMM2 gene and confirm a diagnosis of PMM2-CDG. Other diagnostic tests, such as glycosylation analysis, can help determine the severity of the disorder and guide treatment decisions.
Additional information about PMM2-CDG and related health conditions can be found in scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the PMM2 gene, the associated disorders, and references to relevant scientific articles. The PMM2-CDG Registry is a valuable resource for individuals and families affected by PMM2-CDG, providing information on genetic testing, clinical trials, and support services.
In conclusion, genetic changes in the PMM2 gene can result in PMM2-congenital disorder of glycosylation and other related health conditions. It is important to have access to accurate and up-to-date information, as well as appropriate genetic testing and medical care, to effectively manage these conditions.
PMM2-congenital disorder of glycosylation
PMM2-congenital disorder of glycosylation, also known as PMM2-CDG, is a genetic disorder caused by mutations in the PMM2 gene. PMM2-CDG affects the glycosylation process, which is essential for the proper functioning of proteins in the body.
Changes in the PMM2 gene can lead to a variety of congenital conditions and diseases. The PMM2 gene provides instructions for making an enzyme called phosphomannomutase 2, which is involved in the production of mannose, a sugar used in the glycosylation process.
Scientific articles, databases, and other resources provide additional information on pmm2-congenital disorder of glycosylation. The OMIM (Online Mendelian Inheritance in Man) database, for example, lists the gene and variant information for PMM2-CDG, as well as related conditions and genes.
Genetic testing and health registry databases can be used to diagnose PMM2-CDG and other congenital disorders. These tests can identify mutations in the PMM2 gene and provide information on the severity of the condition.
In addition to genetic testing, other scientific tests and resources can be used to study and understand the effects of PMM2-CDG. PubMed, a database of scientific articles, contains articles on PMM2-CDG and related topics.
Overall, PMM2-congenital disorder of glycosylation is a complex genetic disorder that affects the glycosylation process. Understanding the genetic changes associated with this disorder can help in diagnosing and managing the condition.
Other Names for This Gene
The PMM2 gene is also known by other names:
- pmm2-congenital: This is a scientific name for the PMM2 gene.
- pmm2-congenital glycosylation disorder: This is a genetic disorder caused by changes (variants) in the PMM2 gene.
- pmm2-cdg: This is an abbreviation for pmm2-congenital glycosylation disorder.
Other names for the PMM2 gene may be listed in resources such as:
- Catalog of Genes and Genetic Diseases: This catalog provides information on genes related to genetic and other conditions.
- OMIM: The Online Mendelian Inheritance in Man database provides information on genes, genetic conditions, and related articles.
- PubMed: PubMed is a database of scientific articles on health and related topics, including genetic diseases and testing.
- Gene Testing Registry: The Gene Testing Registry provides information on genetic tests for various conditions, including those related to the PMM2 gene.
Additional information on the PMM2 gene can be found in references and articles from these resources.
Additional Information Resources
For additional information about the PMM2 gene and other related genes, diseases, and testing resources, please refer to the following:
- Genetics Home Reference: Provides information on PMM2-congenital disorder of glycosylation and other genetic conditions. Visit their website at https://ghr.nlm.nih.gov/gene/PMM2.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for PMM2-congenital disorder of glycosylation can be found at https://omim.org/entry/601785.
- PubMed: Search for articles and publications related to PMM2 gene changes, PMM2-congenital disorder of glycosylation, and other related topics on PubMed. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.
- PMM2-CDG Registry: The PMM2-CDG Registry is a database that collects information on patients with PMM2-congenital disorder of glycosylation. Learn more at http://www.pmm2-cdg.com/registry.
These resources provide valuable information, references, and testing options for understanding the PMM2 gene and its role in the PMM2-congenital disorder of glycosylation.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for the PMM2 gene and other genes. The tests listed in the GTR are for various diseases and conditions, including PMM2-congenital disorder of glycosylation (PMM2-CDG) and other related conditions.
The GTR is a catalog of genetic tests and their scientific names, genetic variants, and references. It is a valuable resource for health professionals, researchers, and individuals seeking information about genetic testing. The GTR database includes information from various databases, such as OMIM, PubMed, and other genetic testing resources.
Genetic testing for PMM2-congenital disorder of glycosylation (PMM2-CDG) and other related conditions can provide additional information about changes in the PMM2 gene and other genes that may be associated with these disorders.
Testing for PMM2-congenital disorder of glycosylation (PMM2-CDG) and other related conditions can be done through various genetic testing methods, including sequencing and mutation analysis. The result of genetic testing can provide important information for diagnosis, treatment, and management of these disorders.
For more information about specific genetic tests for PMM2-congenital disorder of glycosylation (PMM2-CDG) and other related conditions, it is recommended to consult the Genetic Testing Registry (GTR) and other relevant resources.
| Resource | Description |
|---|---|
| Genetic Testing Registry (GTR) | A catalog of genetic tests and their scientific names, genetic variants, and references. |
| OMIM | A database of genetic disorders and their associated genes. |
| PubMed | A database of scientific articles and publications related to genetics and genetic testing. |
It is important to note that genetic testing for PMM2-congenital disorder of glycosylation (PMM2-CDG) and other related conditions should be done under the guidance of a healthcare professional or genetic counselor.
Scientific Articles on PubMed
PubMed is a valuable resource for scientific articles related to the PMM2 gene. The PMM2 gene is responsible for the production of an enzyme called phosphomannomutase 2, which is involved in the mannose glycosylation pathway.
There are several articles listed on PubMed that discuss various aspects of the PMM2 gene. These articles cover topics such as the genetic variants of the gene, testing methods and results, and the role of the gene in certain diseases.
The PMM2-Congenital Disorders of Glycosylation (PMM2-CDG) is a genetic disorder caused by changes in the PMM2 gene. This disorder affects the glycosylation process and can result in various health conditions. Several articles on PubMed provide information on the PMM2-CDG disorder and its related symptoms, changes in the gene, and testing methods for diagnosis.
In addition to PubMed, there are other genetic databases and resources available that provide further information on the PMM2 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders, including PMM2-CDG. It provides references to scientific articles and other resources for further reading and research.
Summary of information on the PMM2 gene from PubMed:
- The PMM2 gene is responsible for producing the phosphomannomutase 2 enzyme involved in mannose glycosylation.
- PubMed has scientific articles on the PMM2 gene and its variants, testing methods and results, and its role in diseases.
- PMM2-CDG is a genetic disorder caused by changes in the PMM2 gene, impacting glycosylation and resulting in various health conditions.
- PubMed provides information on PMM2-CDG symptoms, gene changes, and diagnostic testing.
- OMIM is a catalog of human genes and genetic disorders that lists scientific articles and other resources related to PMM2-CDG.
For additional information on the PMM2 gene and related disorders, it is recommended to consult PubMed and other genetic databases.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genetic disorders and the associated genes. OMIM is a database that collects information on human genes and genetic disorders from scientific articles, databases, and other resources.
One of the genetic disorders listed in the catalog is PMM2-congenital disorder of glycosylation (PMM2-CDG), which is caused by changes (variants) in the PMM2 gene. PMM2-CDG is a rare genetic disorder characterized by congenital glycosylation defects.
For additional information on PMM2-CDG and other related conditions, the OMIM catalog provides references to scientific articles, health registries, and other databases. These resources offer information on diagnostic tests, genetic changes associated with the disorder, and other listed conditions.
The OMIM catalog also includes a list of genes associated with various genetic disorders. Users can search for specific genes and access detailed information on their functions and genetic variants.
OMIM provides a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic disorders. It serves as a comprehensive reference for understanding the genetic basis of diseases and the latest developments in the field.
| Gene | Disease |
|---|---|
| PMM2 | PMM2-congenital disorder of glycosylation |
| … | … |
To access the OMIM catalog and find more information on genes and diseases, visit the OMIM website or refer to the related references provided by OMIM.
Gene and Variant Databases
Gene and variant databases provide valuable information on genetic changes in genes, including the PMM2 gene, as well as information on associated diseases and testing methods.
This information is crucial for researchers, healthcare professionals, and individuals interested in genetic testing. By understanding the changes in specific genes, scientists can better understand the causes of genetic disorders and develop effective treatments.
Some of the most commonly used gene and variant databases include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PMM2 gene and other genes related to congenital disorders of glycosylation.
- GeneCards: GeneCards is a searchable database that provides information on genes, scientific articles, and related resources. It includes information on the PMM2 gene and its associated diseases.
- PubMed: PubMed is a database of scientific articles and references. It can be used to find research articles on PMM2 congenital disorder of glycosylation and other related conditions.
- dbGaP (Database of Genotypes and Phenotypes): dbGaP is a repository of genetic information and associated health conditions. It provides additional resources on PMM2 and other genetic disorders.
- ClinVar: ClinVar is a database that collects and archives information on genetic variants and their clinical significance. It includes information on PMM2 variants and their association with specific diseases.
- Orphanet: Orphanet is a database that focuses on rare diseases. It provides information on PMM2-CDG and other rare genetic conditions.
These databases are continuously updated with new research findings, making them valuable resources for staying up-to-date with the latest scientific developments.
Genetic testing for PMM2-related disorders can be conducted based on the information provided in these databases. Healthcare professionals can use the information to determine the most appropriate tests for individuals suspected of having PMM2-related disorders.
Overall, gene and variant databases play a crucial role in the scientific community by providing comprehensive and reliable information on genes, genetic changes, and associated diseases.
References
- OMIM – https://omim.org
- Congenital Disorder of Glycosylation (CDG) – https://www.ncbi.nlm.nih.gov/books/NBK1332/
- PMM2-CDG in GeneReviews – https://www.ncbi.nlm.nih.gov/books/NBK6190/
- PubMed – https://pubmed.ncbi.nlm.nih.gov/
- Registry of Genes and Genetic Testing Laboratories – https://www.ncbi.nlm.nih.gov/gtr/