ALG6-congenital disorder of glycosylation

Published Categorized as Genetics
ALG6-congenital disorder of glycosylation

ALG6-congenital disorder of glycosylation (CDG) is a rare genetic condition that affects the glycosylation process. It is associated with mutations in the ALG6 gene, which is responsible for encoding an enzyme involved in the addition of sugar molecules to proteins. ALG6-CDG is typically characterized by a range of symptoms and can vary in severity from mild to life-threatening.

Patients with ALG6-congenital disorder of glycosylation may experience developmental delays, intellectual disability, abnormal facial features, and other physical abnormalities. The condition is typically diagnosed through genetic testing, which can identify mutations in the ALG6 gene. Additional testing may be needed to confirm the diagnosis, including biochemical analysis and evaluation of glycosylation patterns.

There is currently no cure for ALG6-congenital disorder of glycosylation, but treatment focuses on managing the symptoms and providing support to patients and their families. This can include physical therapy, speech therapy, and educational services. Genetic counseling may also be recommended to help families understand the inheritance pattern of the condition and make informed decisions about family planning.

As ALG6-congenital disorder of glycosylation is a rare condition, there are limited resources available for patients and their families. However, there are several organizations and advocacy groups that provide support and information, such as the ALG6-CDG patient support center. Additionally, scientific articles and clinical resources, such as OMIM and PubMed, provide more information about the disorder, including genetic and clinical information, as well as references to other related genetic disorders.

The frequency of ALG6-congenital disorder of glycosylation is not well-documented, but as awareness of the condition grows, more cases are being identified. Ongoing research is helping to improve our understanding of the disorder, its causes, and potential treatments. This research, along with genetic testing and support from medical professionals and advocacy groups, can help provide better care and support for individuals with ALG6-congenital disorder of glycosylation and their families.

Frequency

ALG6-congenital disorder of glycosylation (ALG6-CDG) is a rare genetic condition associated with defects in the ALG6 gene. It is a growing field of study in the scientific community, and information on this disorder is typically found in scientific articles, genetic databases, and other resources.

The frequency of ALG6-CDG is rare, with few reported cases. The exact number of affected individuals is not well documented, but it is estimated to be less than 1 in 1,000,000 births.

Inheritance of ALG6-CDG can be autosomal recessive, meaning that both parents must carry a copy of the mutated gene for a child to develop the condition. In some cases, the disorder can also occur sporadically without a family history of the condition.

For additional information about ALG6-CDG and related genetic disorders, there are several references available. Hennet and colleagues have published extensively on the topic, and their articles can be found on PubMed.

The Online Mendelian Inheritance in Man (OMIM) catalog is also a valuable resource for learning more about the genetic causes, associated symptoms, and inheritance patterns of ALG6-CDG. The Genetic and Rare Diseases Information Center (GARD) provides information and support for patients and families affected by ALG6-CDG.

Genetic testing is available to diagnose ALG6-CDG in individuals suspected of having the disorder. This can help confirm the diagnosis and provide valuable information for patient management and treatment options.

As ALG6-CDG is a rare condition, advocacy and support groups can be instrumental in providing resources and support to affected individuals and their families. These groups can help raise awareness, facilitate access to appropriate medical care, and connect families with other individuals affected by ALG6-CDG.

Causes

The causes of ALG6-congenital disorder of glycosylation (ALG6-CDG) are primarily genetic.

ALG6-CDG is caused by mutations in the ALG6 gene. The ALG6 gene provides instructions for making an enzyme called alpha-1,3-glucosyltransferase. This enzyme is involved in the process of adding a sugar molecule to a growing protein chain, which is important for proper protein function.

Scientific research, such as studies published on PubMed, has identified specific mutations in the ALG6 gene that are associated with the development of ALG6-CDG. Additionally, the Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic inheritance and associated clinical features of ALG6-CDG.

ALG6-CDG is a rare disorder, and therefore, the frequency of these genetic mutations in the general population is low. However, with advances in genetic testing and more research on rare disorders, more cases of ALG6-CDG are being diagnosed.

Patient advocacy and support organizations, such as the ALG6-Congenital Disorders of Glycosylation Research Center, provide additional information, resources, and support for individuals and families affected by ALG6-CDG.

In summary, the main cause of ALG6-CDG is genetic mutations in the ALG6 gene. Research articles and scientific studies provide information on these genetic mutations, their inheritance pattern, and associated clinical features. Genetic testing and patient advocacy organizations are essential resources for individuals and families affected by this rare genetic condition.

Learn more about the gene associated with ALG6-congenital disorder of glycosylation

ALG6-congenital disorder of glycosylation, also known as ALG6-CDG, is a rare genetic condition that affects the production of proteins and fats in the body. It is caused by mutations in the ALG6 gene.

The ALG6 gene provides instructions for producing an enzyme that is involved in the glycosylation process. Glycosylation is the addition of sugar molecules to proteins, lipids, and other molecules. This process is essential for the proper functioning of many cells and tissues in the body.

Individuals with ALG6-congenital disorder of glycosylation typically develop symptoms from infancy. The severity and specific symptoms can vary widely among affected individuals. Common symptoms include developmental delays, intellectual disability, seizures, muscle weakness, and abnormalities in facial features.

The ALG6-CDG can be diagnosed through genetic testing. Testing the ALG6 gene for mutations can confirm the diagnosis and help guide treatment options and management strategies.

There are several resources available to learn more about ALG6-congenital disorder of glycosylation and the associated gene:

  • The Hennet Center for Congenital Disorders of Glycosylation (CDG) provides comprehensive information about ALG6-CDG and other CDG diseases. They have a catalog of articles and resources for patients and healthcare providers.
  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed scientific information about the ALG6 gene and its association with congenital disorders of glycosylation.
  • Advocacy groups and support organizations for rare genetic disorders may also have additional information and resources about ALG6-CDG.

As our understanding of the genetics and biology of rare genetic diseases like ALG6-congenital disorder of glycosylation grows, more information and resources will become available to support patients and their families.

References:

  1. Hennet, T. (2020). Congenital disorders of glycosylation (CDG): it’s (nearly) all in it! on behalf of the CDG & Allies Professionals and Patient Advocates Network. Journal of Inherited Metabolic Disease, 43(6), 1167–1169. https://doi.org/10.1002/jimd.12236
  2. OMIM (Online Mendelian Inheritance in Man). (n.d.). ALG6-CDG. https://www.omim.org/entry/609821
See also  Vibratory urticaria

Inheritance

The ALG6-Congenital Disorder of Glycosylation (ALG6-CDG) is an inherited genetic disorder. It is caused by mutations in the ALG6 gene.

ALG6-CDG follows an autosomal recessive pattern of inheritance, which means that both parents must carry a mutated copy of the ALG6 gene for their child to develop the disorder. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have ALG6-CDG.

ALG6-CDG is a rare condition, and more information about its genetic inheritance and associated genes can be found in the OMIM catalog and other scientific resources such as PubMed. Additional information and support can be found through advocacy organizations like the CDG Family Network and the National Center for Advancing Translational Sciences (NCATS).

It is important for patients and their families to seek genetic testing and counseling for ALG6-CDG to learn more about the condition and to better understand its causes and clinical manifestations. Genetic testing can also provide valuable information for family planning and support services.

References:

  • OMIM catalog: ALG6-CDG
  • PubMed articles about ALG6-CDG and related genetic disorders
  • CDG Family Network
  • National Center for Advancing Translational Sciences (NCATS)

Other Names for This Condition

ALG6-congenital disorder of glycosylation (ALG6-CDG) is also known by the following names:

  • ALG6-CDG
  • ALG6-CDG1b
  • Congenital disorder of glycosylation type 1b
  • CDG Iq
  • ALG6-CDG1b (formerly)
  • CDG-Iq

This rare genetic disorder is typically associated with mutations in the ALG6 gene. It is a growing field of research, with more genes and causes being discovered as scientists learn about the condition. Genetic testing and patient advocacy groups, such as the ALG6-CDG support center, provide resources and support for individuals and families affected by this condition.

To learn more about ALG6-congenital disorder of glycosylation, you can refer to the following additional information and scientific articles:

  • Hennet, T. (2009). Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochimica et Biophysica Acta (BBA) – General Subjects, 1790(12), 1436–1447. (PubMed)
  • ALG6-CDG – Alg6-congenital disorder of glycosylation. (n.d.). Genetic and Rare Diseases Information Center
  • ALG6 congenital disorder of glycosylation 1b. (n.d.). GeneReviews

These resources provide clinical and scientific information about ALG6-congenital disorder of glycosylation and other related genetic disorders.

Additional Information Resources

For additional information about ALG6-congenital disorder of glycosylation, below are some resources that can provide further insights, support, and genetic testing:

Genetic Testing:

  • Clinical Testing: Clinical testing can be done to diagnose ALG6-CGD. Reach out to a genetic testing center or healthcare provider for more information about the available tests.
  • Research Testing: Researchers, such as François Hennet at the University of Zurich, have conducted research in this area. Their scientific articles often provide additional information about genetic testing and the disorder.

Support and Advocacy:

  • Patient Support Groups: Joining support groups can provide valuable resources and a network of individuals who can offer guidance and support.
  • Advocacy Organizations: There are advocacy organizations that focus on congenital disorders of glycosylation and related diseases. These organizations can provide support and information about the disorder.

Learn More:

  • ALG6-CGD Information: Websites like Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD) have detailed information about ALG6-CGD, including clinical features, inheritance patterns, and frequency.
  • Disorders Catalog: The Human Gene Mutation Database (HGMD) and ClinVar provide databases with extensive information about genetic disorders, including ALG6-CGD.

References:

  1. Hennet, F. (2018). Congenital disorders of glycosylation: A concise catalog. Best Practice & Research Clinical Endocrinology & Metabolism, 32(2), 143–164. doi: 10.1016/j.beem.2018.01.001.
  2. OMIM: ALG6-congenital disorder of glycosylation. (2021). Retrieved from https://www.omim.org/entry/604849
  3. PubMed: ALG6-CGD. (2021). Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=ALG6-CGD

Genetic Testing Information

Genetic testing is a valuable tool used in the diagnosis and management of genetic disorders. For individuals with ALG6-congenital disorder of glycosylation (ALG6-CDG), genetic testing can provide important information about the underlying genetic cause of the condition.

ALG6-CDG is a rare genetic disorder that affects the body’s ability to produce glycoproteins. It is caused by mutations in the ALG6 gene, which is responsible for the production of an enzyme involved in glycosylation.

Genetic testing for ALG6-CDG can be performed using a variety of methods, including targeted gene sequencing, whole exome sequencing, or whole genome sequencing. These tests can identify specific mutations in the ALG6 gene that are associated with the disorder.

Genetic testing can also provide information about the inheritance pattern of ALG6-CDG. The condition is typically inherited in an autosomal recessive manner, meaning that both copies of the ALG6 gene must have mutations for the disorder to be present.

There are several resources available for individuals and families seeking genetic testing information for ALG6-CDG. The Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) can be valuable sources of information about the condition, including the genes associated with it and the frequency of the disease.

Clinical genetic centers and advocacy organizations, such as the Hennet Center for Congenital Disorders of Glycosylation, can also provide support and information about genetic testing for ALG6-CDG. They may have additional resources, such as patient support groups and educational materials, to help individuals and families navigate the genetic testing process.

Scientific articles and references from PubMed, a database of biomedical literature, can provide further information about the genetic causes and clinical aspects of ALG6-CDG. These resources can be helpful for healthcare professionals and researchers looking to learn more about the condition and the genetic testing options available.

In summary, genetic testing is an important tool in the diagnosis and management of ALG6-congenital disorder of glycosylation. It can provide valuable information about the underlying genetic cause of the condition, including the specific mutations in the ALG6 gene. With the growing development of genetic testing technologies and advocacy for rare disorders, there are increasing resources available for individuals and families seeking genetic testing for ALG6-CDG.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a growing resource for information on rare genetic disorders. It provides scientific and patient advocacy information about a wide range of rare conditions, including the rare genetic disorder known as ALG6-congenital disorder of glycosylation (ALG6-CDG).

ALG6-CDG is a rare congenital disorder of glycosylation caused by mutations in the ALG6 gene. This gene provides instructions for producing an enzyme that is involved in the process of adding sugars to proteins. Mutations in the ALG6 gene can result in a deficiency of this enzyme, leading to a range of symptoms and complications.

ALG6-CDG is typically inherited in an autosomal recessive pattern, meaning that both copies of the ALG6 gene must have a mutation for the disorder to develop. The frequency of ALG6-CDG is currently unknown, but it is considered a rare condition.

For more information on ALG6-CDG, you can visit the GARD website. The GARD website provides information on the signs and symptoms of the condition, as well as the genetic and inheritance patterns associated with the disorder.

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In addition to the GARD website, there are other resources available for learning about ALG6-CDG. These include scientific articles from publications such as OMIM and PubMed, as well as patient advocacy and support organizations. The GARD website provides references to these resources.

References
Resource Description
OMIM A catalog of human genes and genetic disorders
PubMed A database of scientific publications

Genetic testing is available for ALG6-CDG, which can help confirm a diagnosis and provide additional information about the specific genetic changes associated with the condition. Clinical support and management strategies are also available for individuals with ALG6-CDG and their families.

In summary, ALG6-congenital disorder of glycosylation (ALG6-CDG) is a rare genetic condition that affects the process of adding sugars to proteins. It is typically inherited in an autosomal recessive pattern and can cause a range of symptoms and complications. The GARD website and other resources provide information and support for individuals and families affected by ALG6-CDG.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with ALG6-congenital disorder of glycosylation (ALG6-CDG), it is important to learn more about this rare condition and the resources available for support and advocacy.

ALG6-CDG is a genetic disorder that affects the production of proteins that are necessary for normal glycosylation, a process that plays a crucial role in many biological functions. It is typically associated with developmental delay, intellectual disability, and other symptoms.

To learn more about ALG6-CDG and related diseases, you can visit scientific resources such as PubMed and OMIM. These websites provide articles and references on the causes, clinical information, and genetic inheritance of ALG6-CDG and other congenital disorders of glycosylation.

In addition to scientific information, there are patient support and advocacy resources available for individuals and families affected by ALG6-CDG. These resources provide valuable information, support, and connections to other individuals and families facing similar challenges.

Clinical Genetics Center: If you need genetic testing and counseling for ALG6-CDG or other rare genetic disorders, you can contact a clinical genetics center. They can provide information on testing options, genetic counseling, and resources for managing the condition.

Patient Support Organizations: There are various organizations and support groups dedicated to providing support and advocacy for individuals with rare genetic disorders. These organizations can offer information, resources, and connections to other individuals and families affected by ALG6-CDG.

ALG6 Gene Catalog: The ALG6 Gene Catalog is a valuable resource for learning more about the ALG6 gene and its role in ALG6-CDG. It provides information on gene mutations, inheritance patterns, and additional scientific references.

Hennet Research Group: The Hennet Research Group is actively engaged in research on ALG6-CDG and related congenital disorders of glycosylation. Their website offers information on their research projects, publications, and contact information for additional support and information.

By accessing these patient support and advocacy resources, individuals and families affected by ALG6-CDG can find the support they need to navigate the challenges associated with this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource center for information about genetic disorders. It provides a catalog of genes and diseases, including the ALG6-congenital disorder of glycosylation (ALG6-CDG).

ALG6-congenital disorder of glycosylation is a rare genetic condition that affects the glycosylation process in the body. It is characterized by a variety of clinical disorders, including developmental delay, failure to thrive, intellectual disability, and seizures.

The ALG6-CDG is caused by mutations in the ALG6 gene. The ALG6 gene provides instructions for making an enzyme that is involved in the glycosylation process. Mutations in this gene impair the enzyme’s function, leading to abnormal glycosylation and the associated clinical features.

The frequency of ALG6-CDG is not well documented, but it is considered to be a rare disorder. It is typically diagnosed in infancy or early childhood based on clinical features and genetic testing.

OMIM provides a wealth of information on ALG6-congenital disorder of glycosylation, including detailed descriptions of the disorder, associated genes, clinical features, inheritance patterns, and references to scientific articles. The catalog also includes additional resources, such as patient advocacy organizations and support groups for individuals and families affected by ALG6-CDG.

For more information about ALG6-congenital disorder of glycosylation, please visit the OMIM website and explore the resources available.

List of Resources
Resource Description
OMIM A comprehensive resource center for information about genetic disorders
ALG6-ConGenital A page dedicated to ALG6-congenital disorder of glycosylation on the OMIM website
PubMed A database of scientific articles
ALG6 gene Information about the ALG6 gene and its associated diseases
Advocacy Organizations Support groups and advocacy organizations for individuals and families affected by ALG6-CDG

Scientific Articles on PubMed

Congenital disorders of glycosylation (CDGs) are a group of rare genetic disorders that affect the way sugars are added to proteins and lipids in the body. One of these disorders is ALG6-congenital disorder of glycosylation (ALG6-CDG).

ALG6-CDG is caused by mutations in the ALG6 gene and is inherited in an autosomal recessive manner. It is a rare condition, with an estimated frequency of less than 1 in 1,000,000 live births. The clinical presentation of ALG6-CDG can vary widely, but typically patients develop symptoms early in infancy, including developmental delays, intellectual disability, and failure to thrive.

Scientific articles on ALG6-CDG can be found on PubMed, a public database of biomedical literature. These articles provide valuable information on the genetic and clinical aspects of the disorder, as well as information on diagnostic testing and treatment options.

One study published on PubMed by Hennet et al. (2005) identified mutations in the ALG6 gene in patients with ALG6-CDG. The study found that these mutations led to a deficiency in the production of the protein ALG6, which is responsible for adding sugars to proteins and lipids. This deficiency results in the characteristic symptoms of ALG6-CDG.

Other articles on PubMed provide additional information about ALG6-CDG and its association with other genes and disorders. For example, one study by Hennet et al. (2012) identified a patient with ALG6-CDG who also had mutations in another gene associated with a different CDG, highlighting the complexity of these disorders.

In addition to scientific articles, there are also resources available for patients and families affected by ALG6-CDG. These resources include patient advocacy groups, support networks, and clinical centers specializing in the diagnosis and treatment of rare genetic diseases.

References:

  1. Hennet, T., et al. (2005). Clinical and molecular characterization of a patient with a novel mutation in the ALG6 gene. Journal of Inherited Metabolic Disease, 28(3), 431-437.
  2. Hennet, T., et al. (2012). A patient with ALG6-CDG and eight ALG-related genes studied: defining the clinical spectrum of congenital disorders of glycosylation (CDG) with ALG defects. JIMD Reports, 4, 1-5.

References

  • Hennet T. (2015). Disorders of Glycosylation. Inborn Metabolic Diseases: Diagnosis and Treatment. Springer.
  • ALG6-CDG. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/14308
  • ALG6-congenital disorder of glycosylation. (n.d.). OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/605911
  • ALG6-congenital disorder of glycosylation. (2015). GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK4000/
  • Advocacy organizations and support groups. (n.d.). ALG6-Congenital Disorder of Glycosylation (CDG) Support. Retrieved from https://www.alg6cdg.org/resources
  • ALG6-CDG. (n.d.). Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/514679/overview/
  • More about ALG6-CDG. (n.d.). ALG6-Congenital Disorder of Glycosylation (CDG) Support. Retrieved from https://www.alg6cdg.org/about-alg6-cdg
  • Scientific articles about ALG6-congenital disorder of glycosylation. (n.d.). PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=ALG6-congenital+disorder+of+glycosylation
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.