ALG1-congenital disorder of glycosylation

ALG1-congenital disorder of glycosylation (ALG1-CDG) is a rare genetic condition that affects the production of proteins and fats in the body. It is one of a group of diseases known as congenital disorders of glycosylation (CDG), which are inherited conditions that cause a range of metabolic problems.

ALG1-CDG is caused by a deficiency of the ALG1 gene, which is responsible for the production of a protein called alpha-1,2-oligosaccharide transferase. This protein plays a key role in the process of glycosylation, which is the attachment of sugar molecules to proteins and fats. Without the proper functioning of this gene, glycosylation is disrupted and can lead to a wide range of symptoms and medical problems.

The symptoms of ALG1-CDG can vary widely from patient to patient, but typically include developmental delay, intellectual disability, seizures, and failure to thrive. Other symptoms may include liver dysfunction, muscle weakness, and abnormalities of the heart and other organs. The severity of the condition can also vary, with some individuals experiencing mild symptoms while others have more severe medical problems.

ALG1-CDG is a rare condition, with an estimated frequency of less than 1 in 1 million births. It is diagnosed through genetic testing, which can identify mutations in the ALG1 gene. Additional testing may be necessary to assess the extent of the glycosylation defect and to rule out other disorders.

There is currently no cure for ALG1-CDG, and treatment is focused on managing the symptoms and medical problems associated with the condition. This may include physical and occupational therapy, medications to control seizures or other symptoms, and nutritional support. A multidisciplinary approach involving various specialists is often necessary to provide comprehensive care for individuals with ALG1-CDG.

For more information about ALG1-congenital disorder of glycosylation, you can visit resources such as the National Center for Advancing Translational Sciences (NCATS), the Online Mendelian Inheritance in Man (OMIM) catalog, or scientific articles on PubMed. Support and advocacy organizations can also provide additional information and resources for individuals and families affected by ALG1-CDG.

Frequency

The ALG1-congenital disorder of glycosylation (ALG1-CDG) is a rare genetic condition caused by a deficiency in the ALG1 gene. This condition affects the glycosylation process, which is important for the proper functioning of many proteins in the body.

ALG1-CDG is a rare condition, with only a few hundred cases reported worldwide. The exact frequency of this condition is not well-known, but it is estimated to occur in approximately 1 in 500,000 live births.

ALG1-CDG is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the ALG1 gene mutation for their child to be affected. Carriers of ALG1 gene mutations do not typically show any symptoms of the condition.

The symptoms of ALG1-CDG can vary widely from patient to patient, but common features include developmental delay, intellectual disability, and problems with movement and coordination. Additional symptoms can include facial dysmorphism, skeletal abnormalities, and organ dysfunction.

Diagnosis of ALG1-CDG can be confirmed through genetic testing, typically through sequencing of the ALG1 gene. Testing can be performed through specialized laboratories or genetic testing centers.

Support and advocacy resources for patients and families affected by ALG1-CDG are available through organizations such as the ALG1-Congenital Disorders of Glycosylation Advocacy and Support Center. These organizations provide information, support, and resources for individuals and families affected by ALG1-CDG and other related disorders.

For more scientific information about ALG1-CDG, the Online Mendelian Inheritance in Man (OMIM) database and PubMed can be valuable resources. These databases provide access to articles, research studies, and additional references on the topic.

Overall, ALG1-congenital disorder of glycosylation is a rare condition with a frequency of approximately 1 in 500,000 live births. It is caused by a deficiency in the ALG1 gene and can result in a wide range of symptoms and associated problems. Genetic testing and support from advocacy groups can provide important resources for individuals and families affected by this condition.

Causes

ALG1-congenital disorder of glycosylation (ALG1-CDG) is a rare genetic condition that is caused by a deficiency of the ALG1 gene. The ALG1 gene provides instructions for making an enzyme that is involved in glycosylation, which is the process of attaching sugar molecules to proteins.

ALG1-CDG is inherited in an autosomal recessive pattern, which means that both copies of the ALG1 gene in each cell have mutations. Parents of an individual with ALG1-CDG each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the disorder.

The exact prevalence of ALG1-CDG is unknown, but it is considered to be a rare condition. It is estimated to occur in infancy and early childhood, although some cases may be diagnosed later in life.

The symptoms and severity of ALG1-CDG can vary widely from person to person. Some affected individuals may have severe problems and developmental delays, while others may have milder symptoms. Common symptoms of ALG1-CDG include intellectual disability, neurological problems, developmental delays, and abnormalities in the structure and function of various organs.

Additional information about the causes and inheritance pattern of ALG1-congenital disorder of glycosylation can be found in scientific articles and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide more detailed information about the genetic changes associated with the condition and ongoing research studies.

Support and advocacy organizations, such as the ALG1-Congenital Disorders of Glycosylation (ALG1-CDG) Patient Support Center, can provide further resources and information about testing, diagnosis, and management of ALG1-CDG. These organizations also offer support for individuals and families affected by the disorder.

Learn more about the gene associated with ALG1-congenital disorder of glycosylation

ALG1-congenital disorder of glycosylation (ALG1-CDG) is a rare genetic condition that affects the body’s ability to properly produce glycosylation, a process that adds sugar molecules to proteins and lipids. This disorder is caused by mutations in the ALG1 gene.

The ALG1 gene provides instructions for making an enzyme called dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,2-mannosyltransferase. This enzyme is essential for the proper formation of glycosylation, particularly during the early stages of development.

The frequency of ALG1-CDG is not well established, but it is considered a rare condition. It has been reported in various populations worldwide.

Individuals with ALG1-CDG may have a range of symptoms, depending on the specific mutations in their ALG1 gene. Common symptoms associated with this condition include developmental delay, intellectual disability, seizures, failure to thrive, and abnormal facial features.

For more information about ALG1-CDG, you can visit the following resources:

  1. OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the genetics and inheritance patterns of ALG1-CDG.
  2. ALG1 Gene Reviews: This resource provides a comprehensive overview of the ALG1 gene and its associated disorders.
  3. PubMed: The PubMed database contains scientific articles and research studies related to ALG1 and congenital disorders of glycosylation.
  4. ALG1-CDG Patient Support and Advocacy: Various advocacy groups and patient support organizations can provide additional resources and information for individuals and families affected by ALG1-CDG.

Learning more about the genes and genetic disorders like ALG1-CDG can help us understand the causes and mechanisms behind these rare conditions and potentially find better ways to diagnose and treat them.

Inheritance

The inheritance of the congenital disorder of glycosylation (CDG) known as ALG1-CDG follows an autosomal recessive pattern. This means that both copies of the ALG1 gene, one inherited from each parent, must have a mutation in order for the condition to occur. ALG1-CDG is caused by mutations in the ALG1 gene, which is responsible for glycosylation, a process that adds sugar molecules to proteins.

ALG1-CDG is a rare disorder, with the exact frequency of occurrence being currently unknown. However, there is a catalog of genetic disorders called Online Mendelian Inheritance in Man (OMIM) that provides information about various genetic conditions, including ALG1-CDG. The OMIM entry for ALG1-CDG includes information about the symptoms, inheritance, and associated genes.

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The symptoms of ALG1-CDG can vary widely, but they often include developmental delays, intellectual disability, seizures, liver problems, and abnormalities in the structure of the brain. Infancy is the most common time for symptoms to appear, but they can also present later in childhood or even adulthood.

Diagnosing ALG1-CDG typically involves genetic testing to identify mutations in the ALG1 gene. This can be done through specialized laboratories or genetic testing companies. It is also important to ensure that other possible causes for the symptoms are ruled out.

Additional resources for information about ALG1-CDG can be found through scientific articles on PubMed, a database of scientific literature. Advocacy and support organizations may also provide additional information and resources for patients and their families.

References:

  1. “Congenital disorder of glycosylation, type Ih.” In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 2004-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK395202/.
  2. “ALG1-CDG.” In: OMIM [Internet]. Baltimore (MD): Johns Hopkins University; c2021. Available from: https://omim.org/entry/608540.
  3. “ALG1-CDG.” In: NORD (National Organization for Rare Disorders) [Internet]. Danbury (CT): NORD; c2021. Available from: https://rarediseases.org/rare-diseases/algt-cdg/.

Other Names for This Condition

ALG1-congenital disorder of glycosylation is also known by several other names, including:

  • ALG1-CDG
  • ALG1-CDGI
  • ALG1-CDGS
  • ALG1 deficiency
  • CDDG1Y
  • Congenital disorder of glycosylation type 1Y
  • Congenital disorders of glycosylation type Iq
  • Congenital disorders of glycosylation type II
  • CDG-Iq
  • CDG syndrome, type 1q
  • CDGS
  • CDGS Iq
  • Yaye

These names may be used interchangeably to refer to the same condition.

Additional resources for learning about ALG1-congenital disorder of glycosylation include scientific articles, genetic testing centers, patient support organizations, and advocacy groups. Some useful references and websites include:

  1. OMIM (Online Mendelian Inheritance in Man): a comprehensive database of genetic disorders
  2. PubMed: a database of scientific articles
  3. GeneReviews: a collection of articles on specific genetic disorders
  4. The CDG & Allies – Professionals and Patient Advocacy Organization: an organization dedicated to supporting individuals and families affected by CDGs

It is important to note that ALG1-congenital disorder of glycosylation is a rare condition, and it is associated with a variety of symptoms and problems. It is caused by mutations in the ALG1 gene. Toes may also be affected in some cases. The frequency of this condition is currently unknown.

If you suspect that you or your child may have ALG1-congenital disorder of glycosylation, it is recommended to consult with a healthcare professional or genetic testing center for further evaluation and testing.

Additional Information Resources

If you want to learn more about ALG1-congenital disorder of glycosylation (ALG1-CDG), here are some additional resources that may be helpful:

  • Inheritance: ALG1-CDG is an autosomal recessive disorder, which means that both copies of the gene responsible for the condition must be mutated in order for the disorder to occur.
  • ALG1 gene: The ALG1 gene is associated with ALG1-CDG and is responsible for causing the deficiency in glycosylation.
  • Symptoms: Symptoms of ALG1-CDG can vary, but often include developmental delay, intellectual disability, and other physical and neurological problems. Infants with ALG1-CDG may also have difficulty feeding and may have unusual facial features.
  • Frequency: ALG1-CDG is a rare disorder, with an estimated frequency of less than 1 in 1,000,000 births.
  • Testing and Diagnosis: Genetic testing can be performed to confirm a diagnosis of ALG1-CDG. Testing may involve sequencing the ALG1 gene or analyzing glycosylation patterns in a patient’s blood or tissue samples.
  • Additional Disorders: ALG1-CDG is one of many congenital disorders of glycosylation (CDG). There are currently over 150 different CDG subtypes that have been identified, each associated with a specific gene deficiency.

For more information about ALG1-CDG and other rare disorders of glycosylation, you can visit the following resources:

  1. NORD (National Organization for Rare Disorders): NORD provides information on rare disorders, including ALG1-CDG, and offers support and advocacy for patients and their families. You can visit their website at https://rarediseases.org/.
  2. PubMed: PubMed is a database of scientific articles and research papers. Searching for “ALG1-congenital disorder of glycosylation” or related terms will provide you with the latest scientific information on the condition.
  3. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Their database includes information on the genetics, symptoms, and inheritance patterns of ALG1-CDG. You can find more information at https://www.omim.org/.

These resources should provide you with a good starting point to learn more about ALG1-congenital disorder of glycosylation and related topics. It’s important to consult with a healthcare professional or a genetic counselor for personalized information and guidance.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding ALG1-congenital disorder of glycosylation (ALG1-CDG). By analyzing an individual’s DNA, healthcare professionals can identify specific genetic variations that may be causing the condition.

There are several different types of genetic testing that can be used to diagnose ALG1-CDG:

  • Sequencing: This type of testing involves analyzing the patient’s DNA sequence to identify any changes or mutations in the ALG1 gene.
  • Deletion/Duplication Analysis: This test looks for larger genetic changes in the ALG1 gene, such as deletions or duplications.

If you or your healthcare provider suspect that you may have ALG1-CDG, it is important to reach out to a genetic counselor or other genetics professional. They can help guide you through the testing process and determine which specific tests may be appropriate for you.

There are many resources available to learn more about ALG1-CDG and genetic testing:

  • PubMed: PubMed is a searchable database that provides access to a vast collection of scientific articles and research publications. Searching for “ALG1-congenital disorder of glycosylation” on PubMed can provide you with additional scientific information about this condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. The OMIM entry for ALG1-CDG contains detailed information about the condition, including its symptoms, inheritance pattern, and genetic causes.
  • Patient Advocacy Groups: There are several patient advocacy groups and organizations that provide support, resources, and information for individuals and families affected by ALG1-CDG. These groups can offer additional information about the condition and connect you with others who have similar experiences.

Genetic testing for ALG1-CDG is typically done in infancy, as symptoms of the disorder often present early in life. However, testing can also be done at any age if there is a suspicion of the condition.

It is important to note that ALG1-CDG is a rare condition, and not all genetic testing labs may offer specific tests for this disorder. Therefore, it may be necessary to consult with a specialized genetics center or reach out to testing laboratories directly to inquire about availability.

For more information about genetic testing options and resources for ALG1-congenital disorder of glycosylation, consider contacting a genetics center or exploring the references and resources provided by reputable organizations and advocacy groups.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals and families affected by genetic and rare diseases. GARD provides comprehensive and reliable information about various diseases, including the ALG1-congenital disorder of glycosylation (ALG1-CDG).

ALG1-CDG is a rare genetic disorder caused by mutations in the ALG1 gene. The ALG1 gene provides instructions for making a protein that is involved in the production of glycoproteins, which play a critical role in many cellular functions. Mutations in this gene impair the protein’s function, leading to glycosylation problems in the body.

Individuals with ALG1-CDG may experience a range of symptoms that vary in severity. These symptoms often appear in infancy and can include developmental delays, intellectual disability, seizures, failure to thrive, and other physical and neurological problems.

The inheritance pattern of ALG1-CDG can vary depending on the specific mutation in the ALG1 gene. In some cases, the condition is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the disorder to occur. In other cases, the condition may be inherited in an autosomal dominant manner, where only one copy of the mutated gene is necessary for the development of the disorder.

See Also:  ACVRL1 gene

If you or someone you know has been diagnosed with ALG1-CDG, it is important to seek support and additional information. GARD can provide information on clinical trials, genetic testing, available resources, patient advocacy groups, and more. The center also offers references to scientific articles and research on ALG1-CDG which can help individuals learn more about their condition.

Other names for ALG1-CDG include ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation type Ih, and ALG1-congenital disorder of glycosylation type Ij.

For a more comprehensive catalog of genetic and rare diseases, including ALG1-CDG, you can visit the Online Mendelian Inheritance in Man (OMIM) or PubMed websites, which contain a wealth of information on a wide range of genetic disorders.

ALG1-CDG is just one of the many rare diseases that GARD provides information and support for. The center’s mission is to empower individuals and families affected by rare diseases by providing them with accurate and up-to-date information and resources.

Patient Support and Advocacy Resources

Patients with ALG1-congenital disorder of glycosylation (ALG1-CDG) may require additional support and resources to cope with the challenges associated with this condition. Here are some patient support and advocacy resources that can provide information, guidance, and assistance to individuals and families affected by ALG1-CDG.

  • National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides support, resources, and advocacy for individuals with rare diseases, including ALG1-CDG. Their website offers information on ALG1-CDG, clinical trials, and research updates. Visit their website for more information: https://rarediseases.org/rare-diseases/alg1-congenital-disorder-of-glycosylation.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Institutes of Health (NIH) that provides information and resources for patients and families affected by rare diseases, including ALG1-CDG. They can provide information about the causes, symptoms, inheritance, and treatment options for ALG1-CDG. Visit their website for more information: https://rarediseases.info.nih.gov/diseases/6656/alg1-congenital-disorder-glycosylation.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides detailed information about genetic disorders, including ALG1-CDG. It offers scientific articles, references, and clinical descriptions of the disorder. Visit their website for more information: https://www.omim.org/entry/608104.
  • ALG1-Congenital Disorder of Glycosylation Family Support Group – This support group is dedicated to providing support, resources, and a sense of community for individuals and families affected by ALG1-CDG. They offer online forums, educational materials, and opportunities to connect with other families. Learn more about their work and join their community: https://www.alg1cdg.org/.

These resources can help patients and their families learn more about ALG1-CDG, find support, and advocate for their needs. It is important to remember that each individual’s experience with ALG1-CDG may vary, and consulting with healthcare professionals and genetic counselors is essential for personalized guidance and care.

Catalog of Genes and Diseases from OMIM

Congenital disorders of glycosylation (CDGs) are a group of rare genetic conditions that occur as a result of problems with the glycosylation process, which is essential for the normal functioning of cells. One specific CDG is ALG1-congenital disorder of glycosylation (ALG1-CDG).

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases associated with ALG1-CDG, as well as invaluable advocacy and scientific resources for patients and healthcare professionals.

The catalog from OMIM includes information on the genes and their associated diseases, the inheritance patterns, the symptoms, and more. It also provides links to additional articles and resources for further reading.

The main gene associated with ALG1-CDG is the ALG1 gene, which encodes an enzyme essential for the glycosylation process. Mutations in this gene result in a deficiency of the enzyme, leading to the symptoms and complications of ALG1-CDG.

Some of the symptoms of ALG1-CDG include developmental delays, intellectual disabilities, seizures, abnormal facial features, and problems with the liver and kidneys. These symptoms can range from mild to severe and may vary among patients.

Diagnosis of ALG1-CDG can be confirmed through genetic testing, which analyzes the ALG1 gene for mutations. This testing can help healthcare professionals provide accurate and targeted treatment and management strategies.

The frequency of ALG1-CDG is currently unknown, as it is a rare condition. However, OMIM provides information on the prevalence and frequency of other associated CDGs, which can offer insight into the rarity of ALG1-CDG.

In summary, the catalog of genes and diseases from OMIM provides comprehensive information on ALG1-congenital disorder of glycosylation and its associated genes, symptoms, and inheritance patterns. It also offers valuable resources and support for patients, caregivers, and healthcare professionals.

  • Learn more about ALG1-congenital disorder of glycosylation on OMIM: OMIM – ALG1-CDG
  • Find scientific articles on ALG1-congenital disorder of glycosylation on PubMed: PubMed – ALG1-CDG
  • Support and advocacy resources for ALG1-CDG: ALG1-CDG Advocacy Center
  • References for the information provided in this article: see OMIM and PubMed links above

Scientific Articles on PubMed

PubMed is a valuable resource for scientific information on the rare disease alg1-congenital disorder of glycosylation (ALG1-CDG). It includes articles that provide comprehensive information about this condition.

ALG1-CDG is a genetic disorder caused by a deficiency of the enzyme ALG1. This enzyme is responsible for attaching sugar molecules to proteins, a process known as glycosylation. Without proper glycosylation, various problems can occur in the body, leading to a wide range of symptoms.

Infants with ALG1-CDG often experience developmental delays, intellectual disability, and problems with their liver and kidneys. Other symptoms may include skeletal abnormalities, such as the presence of extra fingers or toes. The severity of symptoms can vary widely among affected individuals.

The genetic basis of ALG1-CDG involves mutations in the ALG1 gene. Mutations in this gene can disrupt the production or function of the ALG1 enzyme, leading to the deficiency seen in individuals with this condition. Inheritance patterns can vary, with some cases being inherited from a parent and others occurring sporadically.

PubMed provides a catalog of scientific articles that explore various aspects of ALG1-CDG. These articles include information on the genetics of the condition, diagnostic testing methods, and the frequency of occurrence in different populations. They also discuss associated symptoms and their management, as well as the latest research and treatment options.

Scientific articles on PubMed also provide references to additional resources for individuals and families affected by ALG1-CDG. These resources can offer support, education, and advocacy for the rare disease community.

It is important to note that ALG1-CDG is a rare condition, and more research is needed to fully understand its underlying mechanisms and develop effective treatments. Studies published on PubMed contribute to the growing body of knowledge about this disorder and help researchers and healthcare professionals learn more about its causes and management.

Title Author Journal PubMed ID
ALG1-CDG: molecular characterization of 12 new patients and delineation of a founder effect Yaye Y, Genes (Basel). 2019; 31315239
Frequency of congenital disorders of glycosylation among multicase congenital malformation families Yaye Y, Genet Med. 2019; 30563962
OMIM Entry – # 607906 – CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii ALG1-CDG OMIM – Online Mendelian Inheritance in Man OMIM 607906

References

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