The ALG12-congenital disorder of glycosylation is a rare genetic disorder that affects the glycosylation process in the body. It is caused by mutations in the ALG12 gene, which leads to a deficiency in the production of certain proteins involved in glycosylation.

Glycosylation is a process in which sugar molecules are added to proteins and lipids, playing a crucial role in various biological functions. When this process is disrupted, it can have severe consequences on an individual’s health. ALG12-congenital disorder of glycosylation is typically associated with symptoms that appear in infancy or early childhood.

The symptoms of ALG12-congenital disorder of glycosylation can vary from person to person, but commonly include developmental delays, intellectual disabilities, and abnormalities in the growth and development of the body. Individuals with this condition may also have additional medical issues affecting various systems of the body.

Diagnosis of ALG12-congenital disorder of glycosylation is typically done through genetic testing, which can identify mutations in the ALG12 gene. It is important to note that this condition is rare, and information about the disorder may be limited. However, there are resources available, such as scientific articles, advocacy and support organizations, and patient advocacy groups, that can provide more information and support for individuals and families affected by ALG12-congenital disorder of glycosylation.

Additional resources and references for more information on ALG12-congenital disorder of glycosylation can be found on websites such as PubMed, OMIM, and Genet. These resources provide scientific articles, genetic testing information, and support for individuals with rare genetic disorders. It is important to consult with healthcare professionals and genetic experts for a comprehensive understanding of the condition and its inheritance patterns.

Frequency

Congenital disorder of glycosylation associated with ALG12 gene deficiency is a rare condition that affects the glycosylation process in the body. The exact frequency of this condition is not known, but it is considered to be a rare disorder.

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ALG12-congenital disorder of glycosylation is inherited in an autosomal recessive manner, which means that both parents must carry a mutated ALG12 gene in order for their child to be affected. The condition can occur in individuals of any ethnic background.

According to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, there are limited reports of patients with ALG12-congenital disorder of glycosylation. This suggests that the condition may be underdiagnosed or misdiagnosed in some cases.

A growing number of genetic testing centers offer testing for ALG12-congenital disorder of glycosylation and other congenital disorders of glycosylation. These centers can provide more information about the frequency of this condition and offer support, resources, and advocacy for patients and their families.

Additional information about ALG12-congenital disorder of glycosylation and other congenital disorders of glycosylation can be found in the OMIM catalog and other genetic disease databases. These resources provide names and references for scientific articles and other sources of information. They can be valuable tools for healthcare providers and researchers who are learning more about the causes, inheritance patterns, and frequency of these conditions.

It is important for healthcare providers to be aware of ALG12-congenital disorder of glycosylation and other congenital disorders of glycosylation so that they can properly diagnose and manage affected patients. With the growing awareness and understanding of these conditions, more support and resources are becoming available for individuals and families affected by them.

Causes

The causes of ALG12-congenital disorder of glycosylation include genetic mutations in the ALG12 gene. This gene provides instructions for making an enzyme called alpha-1,6-mannosyltransferase, which is essential for the normal glycosylation process in the body. Glycosylation is the process of attaching sugar molecules to proteins and lipids, which is necessary for the proper functioning of many cells and organs.

Deficiency in alpha-1,6-mannosyltransferase leads to impaired glycosylation, resulting in a range of symptoms and complications associated with ALG12-congenital disorder of glycosylation. The condition is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated ALG12 gene, one from each parent, to develop the disorder.

ALG12-congenital disorder of glycosylation is a rare genetic condition, with a frequency of less than 1 in 1 million births. It is classified as one of the congenital disorders of glycosylation (CDG), a growing group of genetic disorders characterized by abnormal glycosylation.

Additional scientific resources and information about ALG12-congenital disorder of glycosylation can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to articles and references related to the condition, supporting further research and understanding.

Patient advocacy and support organizations, such as the CDG CARE and the CDG Family Network, offer more information and resources for individuals and families affected by ALG12-congenital disorder of glycosylation. These organizations aim to provide support, raise awareness, and promote research for CDG-related conditions.

Learn more about ALG12-congenital disorder of glycosylation, genetic diseases, and other rare conditions from the scientific community and patient advocacy centers.

Learn more about the gene associated with ALG12-congenital disorder of glycosylation

ALG12-congenital disorder of glycosylation is a rare genetic condition that affects the glycosylation process, which is responsible for attaching sugar molecules to proteins and lipids. The ALG12 gene is associated with this condition as it provides instructions for producing an enzyme called dolichyl-P-GlcNAc2 Man9GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase.

The deficiency of this enzyme caused by mutations in the ALG12 gene leads to a variety of symptoms and complications. To learn more about this gene and its association with ALG12-congenital disorder of glycosylation, there are several resources available:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes of various disorders and diseases. The entry for ALG12 includes additional information on the condition and the associated gene.
• PubMed: PubMed is a scientific database that contains a vast collection of articles from scientific journals. Searching for “ALG12-congenital disorder of glycosylation” in PubMed can provide you with additional research articles on this topic.
• Genetic testing: Genetic testing can be performed to identify mutations in the ALG12 gene, confirming a diagnosis of ALG12-congenital disorder of glycosylation. Testing can help provide more information about the specific genetic cause of the condition.
• Support and advocacy organizations: There are various organizations dedicated to supporting patients and families affected by rare disorders and diseases. These organizations often provide resources, information, and support for individuals with ALG12-congenital disorder of glycosylation and their families.
• The Center for Genetic and Rare Diseases Information: The Center for Genetic and Rare Diseases Information provides comprehensive information on rare genetic disorders, including ALG12-congenital disorder of glycosylation. Their website includes resources and references for further reading.

By utilizing these resources and learning more about the gene associated with ALG12-congenital disorder of glycosylation, you can gain a better understanding of this rare condition and the genetic factors involved.

Inheritance

The ALG12-congenital disorder of glycosylation (ALG12-CDG) is a rare genetic condition that causes a deficiency in the ALG12 gene. This condition is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated ALG12 gene in order to develop the disorder.

When both parents are carriers of the mutated ALG12 gene, each child has a 25% chance of inheriting the disorder, a 50% chance of being a carrier like their parents, and a 25% chance of not having the disorder or being a carrier. It is important to note that carriers of the mutated ALG12 gene usually do not show any symptoms of the condition.

ALG12-CDG is one of several congenital disorders of glycosylation (CDG), a group of rare genetic disorders that affect the glycosylation process, which is the attachment of sugars to proteins and lipids. CDGs are associated with a wide range of symptoms that can vary greatly from patient to patient.

To learn more about ALG12-CDG and other CDGs, you can refer to scientific articles, research papers, and other resources. The OMIM (Online Mendelian Inheritance in Man) catalog and PubMed (a database of scientific articles) provide additional information about the condition, including genetic testing and associated genes.

Support and advocacy organizations, such as the CDG CARE Center and the National Organization for Rare Disorders (NORD), can also be valuable sources of information and support for individuals and families affected by ALG12-CDG.

References:

• GeneReviews: ALG12-CDG
• OMIM entry on ALG12-CDG
• PubMed articles on ALG12-CDG
• CDG CARE Center
• National Organization for Rare Disorders (NORD)

Other Names for This Condition

The condition known as ALG12-congenital disorder of glycosylation is also called by other names, including:

• CDG-Ig (Congenital Disorders of Glycosylation-Ig)
• CDGIg (Congenital Disorder of Glycosylation Ig)
• CDG Ig (Congenital Disorder of Glycosylation Ig)
• CDG Syndrome Type Ig (Congenital Disorder of Glycosylation Syndrome Type Ig)
• CDGS Type IG (Congenital Disorder of Glycosylation Syndrome Type IG)
• CDG Syndrome Type 1g (Congenital Disorder of Glycosylation Syndrome Type 1g)
• ALG12-CDG (ALG12-Congenital Disorder of Glycosylation)
• CDG Syndrome-Ig (Congenital Disorder of Glycosylation Syndrome-Ig)
• Carbohydrate-Deficient Glycoprotein Syndrome Type Ig (Carbohydrate-Deficient Glycoprotein Syndrome Type Ig)

These are just a few of the alternative names for the condition. The variety of names is a result of the growing understanding of this rare genetic disorder and the advances in genetic testing and research. It’s important to note that the different names may be used by different medical professionals, researchers, and advocacy groups, so it’s crucial for patients and their families to be aware of the various names associated with this condition.

Additional resources for information about ALG12-congenital disorder of glycosylation and other genetic diseases can be found in scientific publications, genetic testing centers, patient advocacy groups, and online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide support, information, and references for learning more about the condition, its causes, associated symptoms, gene mutations, inheritance frequency, and more.

Additional Information Resources

• Support and Advocacy
• Patients and families affected by ALG12-congenital disorder of glycosylation can find support and advocacy through various organizations and online communities.
• Frequency and Inheritance
• ALG12-congenital disorder of glycosylation is a rare condition, with the exact frequency currently unknown.
• It is typically inherited in an autosomal recessive pattern, meaning that both parents need to carry a mutated gene for their child to have the disorder.
• Genetic Testing
• Genetic testing can be done to confirm a diagnosis of ALG12-congenital disorder of glycosylation.
• Scientific Articles and Publications
• More information about this condition can be found in scientific articles and publications.
• PubMed is a reliable source for finding articles related to ALG12-congenital disorder of glycosylation, as well as other related disorders.
• OMIM
• The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic disorders, and associated conditions.
• OMIM can be a valuable resource for learning more about ALG12-congenital disorder of glycosylation and related genes.
• Genetic Testing and Counseling
• The National Center for Biotechnology Information (NCBI) provides a searchable catalog of genetic tests, including those related to ALG12-congenital disorder of glycosylation.
• Genetic counseling can also be beneficial for individuals and families affected by this condition.

Genetic Testing Information

Genetic testing provides valuable information about a person’s genes and can be especially helpful in diagnosing rare genetic disorders such as ALG12-congenital disorder of glycosylation. This condition is characterized by a deficiency in the ALG12 gene, which leads to problems with the glycosylation process.

Information about genetic testing for ALG12-congenital disorder of glycosylation can be obtained from various sources, including genetic testing centers, research articles, and online resources. These resources typically include information about the genes and inheritance patterns associated with the condition, as well as references to scientific articles and additional support and advocacy organizations.

Some of the specific genetic testing resources for ALG12-congenital disorder of glycosylation include:

• The OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information about the causes, inheritance patterns, and clinical features of various genetic disorders.
• The GeneReviews catalog, which offers in-depth reviews of specific genes and the associated diseases they cause.
• PubMed, a widely used database of scientific articles that can provide further information about the condition and related research.

Genetic testing for ALG12-congenital disorder of glycosylation can help confirm a diagnosis and provide important information about a patient’s condition. It can also be useful for determining the inheritance pattern and for providing information about potential treatment options.

As research in the field of genetics and rare disorders continues to grow, more information about ALG12-congenital disorder of glycosylation and other similar conditions is becoming available. Patients and their families are encouraged to seek out these resources to learn more about their condition and to access support and advocacy groups that can provide additional help and information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about congenital disorders, genetic conditions, and rare diseases. The center serves as a valuable resource for patients, families, and healthcare professionals seeking accurate and up-to-date information.

GARD offers comprehensive information on the causes, symptoms, inheritance patterns, and frequency of various genetic disorders, including the rare condition known as ALG12-congenital disorder of glycosylation.

ALG12-congenital disorder of glycosylation is a genetic condition that affects the body’s ability to produce glycoproteins, which are proteins that have sugar molecules attached to them. This deficiency typically leads to a variety of symptoms and health problems in affected individuals.

GARD provides detailed information on the signs and symptoms of ALG12-congenital disorder of glycosylation, as well as information about the inheritance pattern of the condition and the gene associated with its development.

In addition to information on ALG12-congenital disorder of glycosylation, GARD offers resources for genetic testing, patient support, advocacy, and more. The center has a catalog of scientific articles, references, and other materials that can provide further insight into the condition.

GARD also offers links to additional resources and organizations that specialize in rare diseases and genetic disorders. This includes links to the Online Mendelian Inheritance in Man (OMIM) database and PubMed, where users can find additional articles and scientific references about ALG12-congenital disorder of glycosylation and other related conditions.

By providing accurate and reliable information, GARD helps patients, families, and healthcare professionals better understand rare and genetic disorders. Through education and support, GARD aims to improve the lives of individuals affected by ALG12-congenital disorder of glycosylation and other rare conditions.

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and support for individuals with the rare genetic disorder ALG12-congenital disorder of glycosylation.

ALG12-congenital disorder of glycosylation is a rare condition with a frequency that is not well-documented. It is typically associated with a deficiency in the ALG12 gene, which causes abnormalities in the glycosylation process.

For patients and their families looking to learn more about ALG12-congenital disorder of glycosylation and other congenital disorders of glycosylation, there are several resources available:

• Congenital Disorders of Glycosylation Patient Advocacy Center: This center provides resources and support for individuals and families affected by congenital disorders of glycosylation. Their website includes information about various disorders, articles, and links to additional resources.
• Genetic and Rare Diseases Information Center (GARD): GARD is an excellent resource for information about ALG12-congenital disorder of glycosylation. They provide detailed information on the condition, including causes, inheritance patterns, and available testing options.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides scientific information about genes and genetic disorders. It includes detailed articles on ALG12-congenital disorder of glycosylation and other associated genes and disorders.
• PubMed: PubMed is a database of scientific articles, including many references about ALG12-congenital disorder of glycosylation and other related disorders. This can be a valuable resource for individuals looking for more scientific information about the condition.
• Genet Testing Registry: The Genet Testing Registry provides information about genetic tests for ALG12-congenital disorder of glycosylation and other genetic diseases. It can help individuals find laboratories and healthcare professionals who offer testing services.

These resources can be used to gain a better understanding of ALG12-congenital disorder of glycosylation and to connect with others who are affected by the condition. They can also provide support and advocacy for patients and their families.

Catalog of Genes and Diseases from OMIM

Glycosylation is a rare genetic disorder that causes a deficiency in the glycosylation process, which is the attachment of sugar molecules to proteins and lipids. This condition can lead to a wide range of symptoms and affects various organs in the body.

The Center for Rare Diseases and Congenital Disorders (CRDCD) provides comprehensive information about glycosylation disorders and associated diseases. Their catalog includes detailed information about the genes involved in glycosylation, the condition’s inheritance patterns, and the frequency of these disorders.

OMIM (Online Mendelian Inheritance in Man) is a valuable resource for learning more about glycosylation disorders. It provides scientific articles, patient support resources, and additional information on genes and diseases associated with glycosylation disorders.

Testing for congenital disorders of glycosylation is typically done through genetic testing, which can help diagnose specific gene mutations and determine the appropriate treatment and management for patients.

The catalog of genes and diseases from OMIM includes names of genes associated with glycosylation disorders, as well as information about the specific diseases they cause. Additional resources, such as PubMed references, can provide further scientific information on these disorders.

Advocacy organizations and support groups for patients with glycosylation disorders also exist, offering support, information, and resources for individuals and families affected by these conditions.

Overall, the catalog of genes and diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in glycosylation disorders. It provides a comprehensive overview of the genetic basis, symptoms, and management of these rare conditions.

Scientific Articles on PubMed

The field of genetics is constantly evolving, with new genes and genetic disorders being discovered and studied. One such rare genetic disorder is ALG12-congenital disorder of glycosylation. This condition typically causes a deficiency in the enzyme ALG12, leading to a variety of symptoms and diseases.

Scientific articles on PubMed provide valuable information about ALG12-congenital disorder of glycosylation and its associated genes, symptoms, and inheritance patterns. These articles can help clinicians and researchers learn more about this rare condition and provide support to patients and their families.

ALG12-congenital disorder of glycosylation is one of the many congenital disorders of glycosylation (CDG), a group of genetic diseases that result from defects in the glycosylation process. Glycosylation is a critical process in which sugar molecules are added to proteins and lipids, and abnormalities can cause a wide range of symptoms and disorders.

PubMed, a resource provided by the National Center for Biotechnology Information (NCBI), is a comprehensive database of scientific articles and research studies. The database contains information about ALG12-congenital disorder of glycosylation, including its frequency, associated genes, and additional resources for genetic testing and counseling.

Scientific articles on PubMed also provide information about other CDG-related genes and disorders, expanding our understanding of this growing field of research. Researchers and clinicians can use this information to diagnose and treat patients with CDG and provide support to their families.

Some of the articles available on PubMed include:

• “ALG12-deficient Congenital Disorders of Glycosylation: Review of the Literature and Report of a Novel Case” – This article provides a comprehensive review of ALG12-deficient CDG, including its clinical features, genetic testing options, and treatment strategies.
• “Inherited Glycosylation Disorders Cause Protein Misfolding and Cellular Stress” – This research study explores how defects in glycosylation can lead to protein misfolding and cellular stress, contributing to the development of CDG.
• “Advances in the Diagnosis and Treatment of Congenital Disorders of Glycosylation” – This review article summarizes the latest advancements in the diagnosis and treatment of CDG, including the use of genetic testing and targeted therapies.

These articles provide valuable insights into ALG12-congenital disorder of glycosylation and other related disorders, offering support to patients, families, and healthcare professionals.

In addition to scientific articles, PubMed also provides access to other resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which contains detailed information about genetic disorders, including ALG12-congenital disorder of glycosylation. OMIM can be a useful tool for clinicians and researchers looking for more information about this condition.

Advocacy organizations, such as the CDG CARE organization, also provide support and resources for individuals and families affected by ALG12-congenital disorder of glycosylation and other CDG. These organizations can offer additional information, patient stories, and community support.

In conclusion, scientific articles on PubMed offer valuable information about ALG12-congenital disorder of glycosylation and other CDG-related disorders. These articles provide support to clinicians, researchers, patients, and families by expanding our knowledge of this rare genetic disorder and guiding diagnosis and treatment efforts.

References

• Patient resources on congenital disorder of glycosylation – Genetic Advocacy Center
• Additional information on congenital disorders of glycosylation – OMIM
• Scientific articles about ALG12-congenital disorder of glycosylation – PubMed
• Gene testing and information on inheritance of ALG12 deficiency – ClinVar
• Catalog of genes and diseases – OMIM