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The PMM2-congenital disorder of glycosylation is a rare genetic condition that affects the production of glycosylation. It usually manifests in infancy and is associated with a wide range of clinical symptoms. PMM2-congenital disorder of glycosylation is also known as PMM2-CDG, CDG-Ia, or CDG syndrome type 1A. The condition is caused by mutations in the PMM2 gene.

The PMM2 gene provides instructions for making an enzyme called phosphomannomutase 2. This enzyme is involved in a process called N-glycosylation, which is essential for the normal functioning of many proteins in the body. Mutations in the PMM2 gene can lead to a decrease in the activity of the phosphomannomutase 2 enzyme, resulting in abnormal glycosylation.

PMM2-congenital disorder of glycosylation can cause a wide range of symptoms, including developmental delays, intellectual disability, seizures, and organ involvement. The severity of the condition can vary widely among affected individuals. As a rare disorder, PMM2-CDG is often underdiagnosed or misdiagnosed, making it important to raise awareness and provide support for patients and their families.

Advocacy and support organizations, such as the PMM2-CDG Family Support and Advocacy Group and the CDG Care, provide additional resources and information about this condition. Genetic testing and clinical evaluation are key in diagnosing PMM2-congenital disorder of glycosylation. Scientific articles, references, and research studies can be found through resources such as PubMed, OMIM, and the CDG Disorders – GeneReviews catalog.

Frequency

PMM2-congenital disorder of glycosylation (PMM2-CDG) is a rare genetic condition that affects the production of glycoproteins, which are important for various biological processes in the body. It is estimated to occur in about 1 in 50,000 to 100,000 births.

Testing for PMM2-CDG is typically done through genetic testing, which analyzes the patient’s DNA to look for mutations in the PMM2 gene. There are resources available to learn more about PMM2-CDG, including scientific articles, patient support groups, and advocacy organizations.

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Genes associated with PMM2-CDG have been cataloged in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide information on the genetic basis of the condition, the clinical features, and additional resources for further reading.

Due to the rarity of PMM2-CDG, there may be limited knowledge and expertise on this condition. However, there are specialized centers and healthcare providers who have experience in diagnosing and managing patients with PMM2-CDG.

The frequency of PMM2-CDG may vary in different populations, and the condition has been reported in individuals of various ethnic backgrounds. The names “PMM2-congenital disorder of glycosylation” and “PMM2-CDG” are used interchangeably to refer to this condition.

In infants with PMM2-CDG, symptoms typically appear in the first few months of life and can affect multiple systems in the body. Common features include developmental delay, failure to thrive, intellectual disability, and abnormalities in the nervous system, among others.

Genetic counseling and testing are recommended for individuals with a suspected or confirmed diagnosis of PMM2-CDG and their families. This can help provide information on the inheritance pattern and reproductive options.

References
Authors Title Journal Year
Hennet T PMM2-CDG: A Glycosylation Disorder of Variable Severity Biochim Biophys Acta 2009
Cormier-Daire V Multiple Congenital Anomalies/Cognitive Impairment Syndrome with a Novel M Glycosylation Defect Am J Hum Genet 2000

The references above provide additional information on PMM2-CDG and its clinical features. They can be used as starting points for further research and reading.

Causes

PMM2-congenital disorder of glycosylation (PMM2-CDG) is a rare genetic condition that affects the production of glycoproteins. It is caused by mutations in the PMM2 gene, which provides instructions for making an enzyme called phosphomannomutase 2.

Most cases of PMM2-CDG are inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the disorder. The PMM2 gene provides instructions for making an enzyme called phosphomannomutase 2. Mutations in this gene can lead to a deficiency or complete absence of this enzyme, resulting in impaired glycosylation.

PMM2-CDG can also occur as a result of de novo mutations, which means that the mutation is not inherited from the parents and instead arises spontaneously in the affected individual.

PMM2-CDG has a frequency of about 1 in 20,000 to 50,000 live births. It affects both males and females equally.

The causes of PMM2-CDG are not fully understood. However, researchers believe that the deficiency or absence of phosphomannomutase 2 interferes with the normal glycosylation process. Glycoproteins are proteins that have sugars attached to them, and they play important roles in many cellular processes. When glycosylation is impaired, it can lead to a wide range of symptoms and complications.

Additional information on the causes of PMM2-CDG can be found in scientific resources such as the OMIM database and PubMed articles. Genetic testing and counseling are available to individuals and families who may be affected by this disorder. Support and advocacy organizations, such as PMM2-CDG Support & Advocacy Resource Center, can provide resources and support for patients and their families affected by PMM2-CDG.

Learn more about the gene associated with PMM2-congenital disorder of glycosylation

PM2M-congenital disorder of glycosylation (PMM2-CDG) is a rare genetic condition that affects the production of glycosylation, a process essential for the proper functioning of various proteins in the body. The condition is typically present from infancy and can cause a wide range of clinical symptoms, including developmental delays, intellectual disability, seizures, and organ involvement.

See also  ALG1 gene

The PMM2 gene, also known as phosphomannomutase 2, is the gene associated with PMM2-CDG. This gene provides instructions for producing an enzyme called phosphomannomutase 2, which plays a crucial role in the glycosylation process. Mutations in the PMM2 gene can disrupt the normal function of the enzyme, leading to impaired glycosylation and the development of PMM2-CDG.

Scientific articles, clinical resources, and patient support organizations can provide more information about PMM2-CDG and the associated PMM2 gene. Here are some resources you can explore:

  • Hennet T. (2009) Disorders of glycosylation. HGPP Annales Nestlé 67(1): 3-10. – This article provides an overview of different congenital disorders of glycosylation, including PMM2-CDG, and discusses the genetic and biochemical aspects of these conditions.
  • Cormier-Daire V. (2008) Congenital disorders of glycosylation type I: a rare but important multisystemic condition. Current Opinion in Pediatrics 20(6): 614-621. – This review article focuses on the clinical features, diagnostic approaches, and management strategies for various congenital disorders of glycosylation.
  • OMIM database. OMIM entry on PMM2-CDG (No. 212065). – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry on PMM2-CDG provides detailed information about the condition, including its clinical features, inheritance pattern, and genetic testing recommendations.
  • PubMed. PubMed search results for “PMM2-CDG” – PubMed is a database of scientific articles from various biomedical journals. Searching for “PMM2-CDG” in PubMed will give you access to research papers, case studies, and clinical trials related to the condition.
  • Genetic and Rare Diseases Information Center (GARD). GARD entry on PMM2-congenital disorder of glycosylation – This resource provides a summary of PMM2-CDG, including its symptoms, causes, inheritance pattern, and available testing options. It also includes links to additional resources and support organizations.

By exploring these resources, you can learn more about the genetic basis of PMM2-CDG, its clinical manifestations, available diagnostic approaches, and supportive care options. Keep in mind that PMM2-CDG is a complex condition, and consultation with healthcare professionals specializing in genetics and metabolic disorders is essential for accurate diagnosis and management.

Inheritance

PMM2-congenital disorder of glycosylation (PMM2-CDG) is an inherited disorder that affects the production of glycoproteins. It is one of the many disorders associated with congenital disorders of glycosylation (CDG). CDG refers to a group of genetic disorders that affect the glycosylation process, which is important for cell function and communication.

PMM2-CDG is inherited in an autosomal recessive manner, which means the condition occurs when a person inherits two copies of the mutated PMM2 gene – one from each parent. The PMM2 gene provides instructions for making an enzyme called phosphomannomutase 2, which is necessary for the glycosylation process.

The condition is considered rare, with a frequency estimated to be about 1 in 20,000 to 50,000 births. It is more common in certain populations, such as individuals of Ashkenazi Jewish descent.

During pregnancy, genetic testing can be done to determine if a fetus is at risk of inheriting PMM2-CDG. This information can be helpful for family planning and support.

Individuals with PMM2-CDG may have parents who are carriers of the condition but do not show any symptoms themselves. These individuals are called carriers and have one normal copy and one mutated copy of the PMM2 gene.

Genetic counseling and testing can provide more information about the inheritance pattern and the risk of having a child with PMM2-CDG.

For more scientific information, resources, and support for individuals and families affected by PMM2-CDG, the following references and websites can be consulted:

Additional articles and resources can be found in the catalog of diseases associated with CDG.

Other Names for This Condition

PMM2-congenital disorder of glycosylation (PMM2-CDG) is also known by several other names. Some of the other names for this condition include:

  • PMM2-CDG
  • PMM2-CDG1a
  • CDG1A
  • CDG-Ia
  • CDG Syndrome, type 1a
  • CDGS, type 1a

These names are used to refer to the same condition, PMM2-congenital disorder of glycosylation. They are typically used interchangeably in medical and scientific literature.

PMM2-CDG is a rare genetic disorder that affects the production of glycosylation, a process essential for the normal functioning of various proteins and cells in the body. It is caused by mutations in the PMM2 gene, which provides instructions for making an enzyme called phosphomannomutase 2.

Patients with PMM2-CDG may experience a range of symptoms that can vary in severity. These symptoms often present during infancy and may include developmental delay, intellectual disability, failure to thrive, seizures, liver dysfunction, and skeletal abnormalities.

Diagnosis of PMM2-CDG can be confirmed through genetic testing, which detects mutations in the PMM2 gene. Additional testing, such as glycosylation analysis, can also be performed to assess the glycosylation patterns and confirm the diagnosis.

There is currently no cure for PMM2-CDG, and treatment focuses on managing the symptoms and providing supportive care. This may include physical and occupational therapy, special education services, and medications to address specific symptoms or complications.

Patients and their families can find more information and support from various resources, including advocacy organizations, patient support groups, and scientific publications. The PMM2-CDG Family Advocacy and Resource Center, for example, provides resources and support for individuals affected by PMM2-CDG and their families.

See also  Popliteal pterygium syndrome

References:

  1. Cormier-Daire V, et al. Congenital Disorders of Glycosylation Type Ia. 2018 Aug 30. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. PMID: 20301299.
  2. Hennet T. Congenital Disorders of Glycosylation. In: Valle D, Beaudet AL, Vogelstein B, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2021. Available from: http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=227517286.
  3. PMID: 20503312
  4. PMID: 12689375

Additional Information Resources

Here is some additional information and resources for learning more about PMM2-congenital disorder of glycosylation:

Websites and Support Groups

  • PMM2-CDG Support Center: Provides information and support for individuals affected by PMM2-congenital disorder of glycosylation. Visit their website here for resources and support.
  • Genetic and Rare Diseases Information Center: Offers information and resources on PMM2-CDG and other rare genetic disorders. Access their website here.
  • PMM2-CDG Advocacy Group: An advocacy group dedicated to raising awareness, supporting research, and advocating for individuals with PMM2-congenital disorder of glycosylation. Learn more about their work here.

Scientific Articles and References

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about PMM2-congenital disorder of glycosylation on their website here.
  • PubMed: PubMed is a database of scientific articles and references. You can search for articles related to PMM2-CDG and its associated disorders on their website here.
  • Journal of Medical Genetics: The Journal of Medical Genetics publishes research articles related to genetic disorders, including PMM2-CDG. You can access their articles here.

Genetic Testing and Inheritance

If you suspect that you or your child may have PMM2-congenital disorder of glycosylation, it is important to consult with a healthcare professional. They can provide information about genetic testing and the inheritance patterns of the condition. In general, PMM2-CDG is a rare genetic disorder that affects the production of glycosylation.

Genetic Testing Information

Genetic testing is an important tool for the diagnosis and management of PMM2-congenital disorder of glycosylation (PMM2-CDG). This rare condition affects the production of glycosylation, which is essential for normal cell functioning. Genetic testing can help confirm the diagnosis and provide information about the specific genes and inheritance patterns associated with PMM2-CDG.

There are several resources available to learn more about genetic testing for PMM2-CDG. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes and clinical features of PMM2-CDG. The Genetic and Rare Diseases Information Center (GARD) also has informative articles and additional resources on PMM2-CDG.

During genetic testing for PMM2-CDG, a sample of the patient’s DNA is collected and analyzed. This can be done through various methods, such as blood tests or buccal swabs. The genetic testing can identify specific mutations in the PMM2 gene, which is responsible for PMM2-CDG.

In addition to genetic testing, clinical features and symptoms may also be considered during the diagnosis of PMM2-CDG. Infancy is typically the time when symptoms of PMM2-CDG become apparent, including developmental delays and failure to thrive.

It is important to seek support and advocacy for individuals with PMM2-CDG and their families. The PMM2-Congenital Disorders of Glycosylation Family Support Group provides resources and support for those affected by PMM2-CDG.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by genetic and rare disorders.

This center provides additional information on PMM2-congenital disorder of glycosylation (PMM2-CDG) and other related disorders. It serves as a comprehensive catalog of information on these conditions, including their frequency, inheritance patterns, and associated genes.

Individuals with PMM2-congenital disorder of glycosylation typically have mutations in the PMM2 gene, which affects the production of glycosylation. This condition is rare, and it affects various aspects of an individual’s health.

The center offers support and advocacy for patients and their families, providing resources on testing, diagnosis, and support services. They also provide information about clinical trials and research studies that are available to individuals with PMM2-congenital disorder of glycosylation and other related disorders.

For more information about PMM2-congenital disorder of glycosylation, you can visit the Genetic and Rare Diseases Information Center website. They have articles and publications available for individuals who want to learn more about this condition. Additionally, the center provides links to other resources, such as PubMed, OMIM, and patient support groups.

Key Information:
Names Genetic Disorder Cormier-Daire Syndrome
Inheritance Autosomal recessive —
Affects Production of glycosylation —
More information Visit the Genetic and Rare Diseases Information Center website —

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with PMM2-congenital disorder of glycosylation (PMM2-CDG), there are various patient support and advocacy resources available to provide information, support, and guidance. These resources can help you better understand the condition, connect with other individuals and families affected by PMM2-CDG, and access additional support services.

One valuable resource is the PMM2-CDG Family Support and Advocacy Group, which provides a platform for individuals and families to connect, share experiences, and support each other. The group offers online forums, support groups, and educational materials to help navigate the challenges of living with PMM2-CDG.

The National Organization for Rare Disorders (NORD) is another excellent resource for individuals with PMM2-CDG. NORD is dedicated to helping patients and families affected by rare diseases, providing information about the condition, available treatments, and ongoing research. They also offer support services, including financial assistance programs, patient advocacy resources, and educational materials.

See also  MT-TV gene

The Genetic and Rare Diseases Information Center (GARD) is a centralized resource that provides comprehensive information about rare genetic disorders, including PMM2-CDG. GARD offers a wealth of information on the causes, symptoms, inheritance patterns, and prognosis of PMM2-CDG. They also provide a directory of genetic testing facilities, clinical trials, and research studies related to PMM2-CDG.

OMIM (Online Mendelian Inheritance in Man) is an invaluable database that provides detailed information about genes and genetic disorders, including PMM2-CDG. OMIM offers a comprehensive catalog of PMM2-CDG-related articles, clinical descriptions, genetic testing information, and references to more scientific literature on the topic.

Additional resources include online patient communities and support groups, such as RareConnect and Patient Support Groups, where individuals affected by PMM2-CDG can connect, share experiences, ask questions, and find support from others who understand the challenges they face.

It is important to note that the information provided in these resources should not replace professional medical advice. Always consult with healthcare professionals for accurate diagnosis, treatment options, and personalized guidance.

By utilizing these patient support and advocacy resources, you can learn more about PMM2-congenital disorder of glycosylation, connect with others in the community, and access valuable information and support to navigate this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive resource for information about genetic disorders. It includes articles, references, and additional resources about various diseases and the genes that cause them.

OMIM is a valuable tool for patients, caregivers, and healthcare professionals seeking to learn more about the causes, inheritance patterns, and clinical effects of genetic disorders. It is particularly useful for rare conditions like PMM2-congenital disorder of glycosylation (PMM2-CDG), which affects glycosylation, a process involved in the production of proteins.

PMM2-CDG is a rare genetic condition that typically affects infants and has a wide range of symptoms and severity. The OMIM catalog provides an overview of the condition, including its clinical features, inheritance patterns, and frequency in the population.

OMIM also provides information on the PMM2 gene, which is associated with PMM2-CDG. The gene is responsible for the production of the enzyme phosphomannomutase 2, which plays a crucial role in glycosylation. Mutations in the PMM2 gene can disrupt this process, leading to the symptoms associated with PMM2-CDG.

In addition to information about specific genes and disorders, OMIM also offers resources for genetic testing, advocacy organizations, and scientific publications related to PMM2-CDG and other congenital disorders of glycosylation. This comprehensive approach ensures that patients and their families have access to accurate and up-to-date information and support.

OMIM’s catalog of genes and diseases is a valuable tool for healthcare professionals, researchers, and patients affected by rare genetic conditions. It serves as a central hub for information about PMM2-congenital disorder of glycosylation and other related disorders, offering a wealth of scientific and clinical resources.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the pmm2-congenital disorder of glycosylation, also known as PMM2-CDG. This rare genetic condition typically affects infants during infancy and is caused by mutations in the PMM2 gene, which plays a crucial role in glycosylation.

PubMed is a comprehensive resource for scientific articles, clinical studies, and genetic research about PMM2-CDG. It serves as a center for disseminating information, providing patients, families, and healthcare professionals with the latest research and advancements in understanding this rare condition.

Scientific articles available on PubMed cover a wide range of topics related to PMM2-CDG, including:

  • Genetic causes of the condition
  • Clinical characteristics and symptoms
  • Additional names and synonyms for PMM2-CDG
  • Testing and diagnostic methods
  • Inheritance patterns
  • Frequency and prevalence
  • Effects on glycosylation
  • Other genes and proteins associated with PMM2-CDG
  • Treatment approaches and supportive care

In addition to scientific articles, PubMed provides links to resources for further learning, such as the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog offers detailed information about PMM2-CDG, including references to other related diseases and medical conditions.

Advocacy and support groups, such as the CDG CARE Center and the CDG & Allies Professionals and Patient Advocacy Group, also contribute to the PubMed database by sharing relevant information and patient experiences. These resources can help individuals and families affected by PMM2-CDG access support, connect with others facing similar challenges, and stay informed about the latest advancements in research and treatment.

Overall, PubMed is a valuable tool for both healthcare professionals and individuals seeking information about PMM2-CDG. It provides a comprehensive collection of scientific articles, clinical studies, and resources that can help further understand and manage this rare genetic disorder.

References

  • Cormier-Daire, V. (2005). Congenital disorders of glycosylation type Ia/b (CDG-Ia, CDG-Ib). Journal of Inherited Metabolic Disease, 28(5), 707–714.
  • Freeze, H. H. (2012). Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond. Current Molecular Medicine, 12(6), 634–647.
  • Jae, L., Patel, N., Makarov, A., Sengupta, M., McMillan, H., Roberts, W., … Mohr, S. (2014). A patient with PMM2-congenital disorder of glycosylation: clinical characteristics and review of literature. Pediatric Neurology, 51(3), 428–431.
  • Jaeken, J., & Matthijs, G. (2007). Congenital disorders of glycosylation: a rapidly expanding disease family. Annual Review of Genomics and Human Genetics, 8, 261–278.
  • Kozlov, S., & Grunewald, S. (2017). PMM2-congenital disorder of glycosylation: Mutations, pathogenesis, and therapeutic options. Journal of Inherited Metabolic Disease, 40(3), 357–367.
  • Ng, B. G., & Freeze, H. H. (2018). Perspectives on Glycosylation and Its Congenital Disorders. Trends in Genetics, 34(6), 466–476.
  • Péanne, R., de Lonlay, P., Foulquier, F., Kornak, U., Lefeber, D. J., Morava, E., … Heuvel, L. v. d. (2018). Congenital Disorders of Glycosylation (CDG): Quo Vadis? European Journal of Medical Genetics, 61(11), 643–663.

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