SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is a rare genetic disorder that affects the glycosylation process in the body. It is caused by mutations in the SLC35A2 gene, which is located on the X chromosome. The disorder is also known by other names, such as X-linked congenital disorder of glycosylation type IIm (X-CDG IIm) and CDG-IIm.

Glycosylation is a process through which sugar molecules are attached to proteins and lipids in the body. This process is essential for the normal functioning of various cells and tissues. In individuals with SLC35A2-CDG, the glycosylation process is disrupted due to mutations in the SLC35A2 gene. This leads to a wide range of symptoms and complications.

SLC35A2-CDG is a rare condition, and its frequency in the general population is not well known. It is thought to be inherited in an X-linked recessive manner, which means that the condition primarily affects males. However, there have been reports of affected females, who may have milder symptoms due to random X-inactivation.

The symptoms of SLC35A2-CDG can vary significantly from patient to patient. Some of the common clinical features include developmental delay, intellectual disability, seizures, and hearing loss. Additional symptoms may include skeletal abnormalities, facial dysmorphism, and poor growth. The severity of the condition can vary, with some individuals experiencing mild symptoms and others having more severe manifestations.

Diagnosis of SLC35A2-CDG is typically made through genetic testing. Testing can identify mutations in the SLC35A2 gene and confirm the diagnosis. In some cases, additional genetic testing may be necessary to rule out other causes of congenital disorders of glycosylation.

There is currently no cure for SLC35A2-CDG. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, and speech therapy to address developmental delays. Genetic counseling and support services are also available to help individuals and families affected by this condition.

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For more information about SLC35A2-congenital disorder of glycosylation, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and advocacy organizations can provide further information. The OMIM entry on SLC35A2-CDG provides a comprehensive overview of the condition, including genetic testing information, references to additional scientific literature, and links to support and advocacy groups.

Frequency

The frequency of SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is currently unknown. It is considered a rare genetic disorder, but the exact number of affected individuals is uncertain.

SLC35A2-CDG is thought to be underdiagnosed due to its variable clinical presentation and lack of awareness among healthcare professionals. Additionally, some individuals with the disorder may have mild or atypical symptoms, making it even harder to identify.

The disorder has been reported in both males and females, but the frequency may differ between the two sexes. The disorder is inherited in an X-linked manner, which means that males are typically more severely affected than females. However, some females may also experience symptoms, depending on the X-inactivation process.

More research and testing are needed to determine the true frequency of SLC35A2-CDG. Scientific articles and case studies can be found on PubMed and other scientific databases for further information and references.

For more information and support, the following resources can be helpful:

• Genetic and Rare Diseases Information Center: Provides information about rare diseases, including SLC35A2-CDG, for patients and their families.
• X-linked Infantile Epileptic Encephalopathy Research Center: Focuses on genetic testing and research for disorders like SLC35A2-CDG that are associated with infantile epileptic encephalopathy.
• OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic inheritance and causes of SLC35A2-CDG.
• Genetic advocacy organizations: Various organizations and support groups can provide additional resources, information, and support for individuals and families affected by SLC35A2-CDG.

Causes

The SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is a rare genetic disorder. It is caused by mutations in the SLC35A2 gene, which provides instructions for making a protein called solute carrier family 35 member A2. This protein is involved in the transportation of sugars across cell membranes for glycosylation, a process essential for the structure and function of many proteins.

Most cases of SLC35A2-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, to develop the disorder. The parents of an affected individual each carry one copy of the mutated gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the disorder.

Some cases of SLC35A2-CDG have been associated with de novo mutations, which occur spontaneously in the affected individual and are not inherited from the parents.

The frequency of SLC35A2-CDG is currently unknown. This disorder has been reported in various populations around the world, and its exact prevalence is difficult to determine due to its rarity.

The diagnosis of SLC35A2-CDG is typically confirmed through genetic testing. This involves sequencing the SLC35A2 gene to identify any mutations or changes in the genetic code. Additional testing, such as glycosylation studies or measurement of specific sugar molecules in the blood or urine, may be performed to support the diagnosis.

It is important to note that SLC35A2-CDG is just one of many congenital disorders of glycosylation and is associated with specific mutations in the SLC35A2 gene. There are other genetic disorders that affect glycosylation and involve mutations in different genes. These disorders may have similar symptoms and may be classified under a broader term called CDG.

To learn more about SLC35A2-CDG and other genetic disorders, genetic centers and advocacy organizations provide valuable resources and information. Scientific articles, references, and databases such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD) can also be helpful sources of information.

Learn more about the gene associated with SLC35A2-congenital disorder of glycosylation

SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is a rare genetic condition that affects infants. It is characterized by a range of symptoms, including intellectual disability, seizures, hearing loss, and delayed development. The frequency of this disorder is currently unknown, but it is thought to be a relatively uncommon condition.

SLC35A2-CDG is caused by mutations in the SLC35A2 gene, which is located on the X chromosome. As a result, the condition primarily affects males. Females who carry a mutation on one of their X chromosomes can be carriers of the condition, but they are usually unaffected due to the phenomenon called X-inactivation.

To learn more about the SLC35A2 gene and its association with SLC35A2-CDG, you can refer to several resources. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive source of information on genetic disorders and their associated genes. The National Center for Biotechnology Information (NCBI) also provides information on the SLC35A2 gene in their database, PubMed. Both of these resources can provide in-depth scientific information on the gene and its role in SLC35A2-CDG.

In addition to these scientific resources, there are also advocacy and support groups that provide information and resources for patients and their families. These groups can help connect individuals with SLC35A2-CDG to others who are facing similar challenges. They may also provide additional testing resources and information on the latest research and treatment options.

In summary, the SLC35A2 gene is associated with SLC35A2-congenital disorder of glycosylation. This rare condition affects infants and is characterized by various symptoms. To learn more about the gene and the condition, there are several scientific resources, such as OMIM and PubMed, as well as advocacy and support groups that provide information and support for individuals and families affected by SLC35A2-CDG.

Inheritance

The genetic condition known as SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is associated with mutations in the SLC35A2 gene. This gene is located on the X chromosome, making SLC35A2-CDG an X-linked disorder.

X-linked disorders are genetic conditions that primarily affect males. This means that males are more often affected by SLC35A2-CDG than females. Females can be carriers of the condition, meaning they have one normal copy of the SLC35A2 gene and one mutated copy. Carriers of SLC35A2-CDG usually do not display any symptoms of the disorder themselves but can pass the mutation on to their children.

SLC35A2-CDG follows an X-linked recessive inheritance pattern. This means that for a male to be affected by the disorder, he only needs to inherit one mutated copy of the SLC35A2 gene from his carrier mother. On the other hand, females need to inherit two mutated copies (one from each parent) to be affected by SLC35A2-CDG.

It is important to note that the severity and symptoms of SLC35A2-CDG can vary widely among affected individuals. This is because X-linked disorders can display different patterns of X-inactivation, which is the process that inactivates one of the two X chromosomes in females. X-inactivation can lead to a mosaic pattern of gene expression in affected females, resulting in a range of symptoms.

To learn more about the genetic inheritance of SLC35A2-CDG, additional scientific resources can be referenced. These resources might include research articles from PubMed, OMIM (Online Mendelian Inheritance in Man), or the catalogs of genetic testing centers. Advocacy and support groups for SLC35A2-CDG might also provide valuable information about inheritance and genetic counseling for individuals and families affected by this condition.

Overall, the frequency of SLC35A2-CDG is thought to be rare. However, as more is learned about this disorder and genetic testing becomes more widely available, more cases may be identified. It is important for individuals and families affected by SLC35A2-CDG to find and utilize reliable sources of information and support in navigating the challenges associated with this condition.

Other Names for This Condition

The condition known as SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is also called:

• SLC35A2-cdg
• X-linked SLC35A2-congenital disorder of glycosylation

It is important to note that SLC35A2-CDG is a rare genetic disorder associated with mutations in the SLC35A2 gene. It is inherited in an X-linked manner, which means that the condition is more commonly seen in males. However, females can also be affected if they inherit the mutated gene from both parents.

SLC35A2-CDG affects the glycosylation process, which is the attachment of sugar molecules to proteins and lipids. This disrupted glycosylation can lead to a variety of symptoms and complications, including intellectual disability, developmental delay, epileptic seizures, and hearing loss.

Patients with SLC35A2-CDG may undergo genetic testing to confirm the diagnosis. Genetic testing can identify mutations in the SLC35A2 gene, providing additional information about the condition and its causes. Patients, their families, and healthcare providers can turn to various resources for support, advocacy, and information on SLC35A2-CDG, including scientific articles, the OMIM catalog, and patient support organizations.

It is worth noting that X-inactivation plays a role in this condition. Because the SLC35A2 gene is located on the X chromosome, females have two copies of the gene, while males have only one. X-inactivation randomly silences one of the X chromosomes in females, which can result in varying severity of symptoms among affected females.

For more information about SLC35A2-congenital disorder of glycosylation and related genetic disorders, it is recommended to consult reputable sources such as PubMed, OMIM, and rare disease advocacy organizations.

Additional Information Resources

SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is a rare genetic disorder associated with hearing loss. It is caused by mutations in the SLC35A2 gene, which is located on the X chromosome. This condition is thought to be x-linked, meaning that the gene is located on the X chromosome and the disorder is more common in males.

For more information about SLC35A2-congenital disorder of glycosylation, its causes, inheritance pattern, and associated disorders, you can visit the following resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about SLC35A2-CDG and its associated features on the OMIM website. Visit https://www.omim.org/ to learn more.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals and families affected by rare diseases. Their website offers information about SLC35A2-CDG and other rare genetic disorders. Visit https://rarediseases.org/ to learn more.
• Genetic Testing: Genetic testing can help diagnose SLC35A2-CDG and confirm the presence of mutations in the SLC35A2 gene. Talk to your healthcare provider or a genetic counselor to learn more about genetic testing options.
• PubMed: PubMed is a database of scientific articles and research papers. You can search for articles about SLC35A2-CDG and related topics by visiting https://pubmed.ncbi.nlm.nih.gov/.

By accessing these resources, you can learn more about the genetic causes, clinical features, and management of SLC35A2-congenital disorder of glycosylation. It is important to stay informed and connect with support organizations that can provide assistance and guidance for individuals and families affected by this condition.

Genetic Testing Information

Genetic testing is a process that analyzes an individual’s DNA to look for specific changes in their genes. It is commonly used to diagnose and identify genetic disorders, such as SLC35A2-congenital disorder of glycosylation (CDG). SLC35A2-CDG is a rare genetic disorder that affects the glycosylation process in the body.

SLC35A2-CDG is caused by mutations in the SLC35A2 gene, which is responsible for producing a protein that helps in the glycosylation process. These mutations can disrupt the normal functioning of the protein and result in a range of symptoms and complications.

Typical symptoms of SLC35A2-CDG include intellectual disability, seizures, abnormal eye movements, epilepsy, hypotonia, and hearing loss. The severity of the symptoms can vary from mild to severe, and the age of onset can also vary. In some cases, symptoms may not be apparent in infancy and may only become evident later in childhood or adulthood.

SLC35A2-CDG is inherited in an X-linked recessive manner, which means that the mutated gene is located on the X-chromosome. This inheritance pattern primarily affects males, as they only have one X chromosome. Females can be carriers of the mutated gene and have a 50% chance of passing it on to their children. X-inactivation is a random process that occurs in females, which can result in a range of symptoms and disease severity.

To diagnose SLC35A2-CDG, genetic testing is recommended. This can involve analyzing the SLC35A2 gene for mutations or using more comprehensive genetic testing panels that examine multiple genes associated with CDGs. The results of genetic testing can provide important information about a patient’s specific genetic condition, help guide treatment decisions, and provide additional information about the genetic inheritance of the condition.

Genetic testing can be performed at specialized genetic centers or through commercial genetic testing companies. It is important to consult with a genetic counselor or medical professional for guidance on the appropriate genetic testing options and to understand the implications of the results.

For more information about SLC35A2-congenital disorder of glycosylation, genetic testing, and genetic support resources, the following references and resources may be helpful:

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the SLC35A2 gene, associated diseases, and scientific articles.
2. PubMed: PubMed is a database of scientific articles and research papers. Searching for “SLC35A2-congenital disorder of glycosylation” or related terms can yield more scientific information about the condition.
3. Genetic Support Foundation: The Genetic Support Foundation is an advocacy and support organization that provides resources for individuals and families affected by genetic disorders. They may have additional information about SLC35A2-CDG and support services.

Genetic testing plays a crucial role in the diagnosis and management of genetic disorders like SLC35A2-congenital disorder of glycosylation. It can provide valuable insights into the underlying genetic causes of diseases and help guide treatment decisions. If you or a loved one is suspected to have SLC35A2-CDG or any other genetic disorder, it is recommended to seek genetic testing and consultation from a qualified healthcare professional.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public, including patients, their families, healthcare professionals, and researchers, with access to information about genetic and rare diseases. The goal of GARD is to increase awareness and understanding of these conditions and to improve the diagnosis, prevention, and treatment of genetic and rare diseases.

GARD offers a variety of resources to support individuals and families affected by genetic and rare diseases. This includes the GARD Information Specialists who are available to provide personalized support and answer questions about specific conditions. GARD also maintains a repository of scientific articles, references, and other resources related to rare diseases, including the SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG).

SLC35A2-CDG is a rare genetic disorder that is associated with the SLC35A2 gene. It is also sometimes called X-linked SLC35A2-congenital disorder of glycosylation due to its X-linked inheritance pattern. The disorder affects the glycosylation process, which is important for the production of proteins and other molecules in the body.

Infantile epileptic encephalopathy is a condition frequently associated with SLC35A2-CDG, and affected individuals often experience seizures and developmental delays. Other symptoms may include hearing loss, intellectual disability, and other neurological abnormalities.

Diagnosis of SLC35A2-CDG is typically confirmed through genetic testing, which can identify mutations in the SLC35A2 gene. Additional testing may be required to assess the specific impact of these mutations on glycosylation processes.

The frequency of SLC35A2-CDG is currently unknown, but it is thought to be a rare condition. X-inactivation is another factor that can influence the severity and symptoms of the disorder. X-inactivation is a process that randomly inactivates one X chromosome in females, but in some cases, there is a skewed inactivation pattern that can result in a partial loss of gene function.

For more information about SLC35A2-CDG and other genetic and rare diseases, the GARD website provides a comprehensive catalog of information, including scientific articles, patient resources, and advocacy support. Other resources, such as OMIM and PubMed, can also be helpful in learning about this condition and its associated genes and inheritance patterns.

References:

1. OMIM (Online Mendelian Inheritance in Man). Retrieved from: https://www.ncbi.nlm.nih.gov/omim
2. PubMed (U.S. National Library of Medicine). Retrieved from: https://pubmed.ncbi.nlm.nih.gov/

Patient Support and Advocacy Resources

Patient support and advocacy resources for individuals and families affected by SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) are available to provide valuable information, emotional support, and access to resources. These organizations and centers aim to help individuals navigate through the challenges associated with this rare genetic condition.

• SLC35A2-CDG Patient Support Group: This patient support group offers a platform for individuals and families affected by SLC35A2-CDG to connect with others facing similar challenges. It provides a supportive community and a space to share experiences and information.
• Center for SLC35A2-CDG: The Center for SLC35A2-CDG is a comprehensive resource center that offers information about the condition, its causes, inheritance patterns, and associated disorders. It provides scientific articles, references, and additional educational resources for individuals and healthcare professionals.
• Genetic Counseling Services: Genetic counseling services can provide individuals and families with information about the inheritance pattern of SLC35A2-CDG, genetic testing options, and the implications of the condition for family planning. These services can help individuals make informed decisions about their healthcare and understand the impact of SLC35A2-CDG on their lives.
• Advocacy Organizations: Various advocacy organizations focus on rare genetic disorders and provide support, resources, and advocacy for individuals and families. These organizations raise awareness about SLC35A2-CDG, promote research, and work towards improving the lives of those affected.

Additionally, there are other resources available to learn more about SLC35A2-CDG, including scientific publications, articles, and references. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the gene and associated diseases. PubMed, a database of scientific articles, offers a wealth of published research on SLC35A2-CDG and related topics.

It is important for individuals and families affected by SLC35A2-CDG to seek support, access accurate information, and connect with others facing similar challenges. These patient support and advocacy resources can provide the necessary guidance and empower individuals to manage and cope with the condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is an invaluable resource for researchers and clinicians seeking information about genetic disorders. It contains a comprehensive catalog of genes and diseases, including the rare X-linked disorder known as SLC35A2-congenital disorder of glycosylation.

The OMIM database provides articles, scientific literature, and additional information about the inheritance patterns, symptoms, and frequency of these genetic diseases. In the case of SLC35A2-congenital disorder of glycosylation, it is an infantile disorder associated with glycosylation defects.

SLC35A2-congenital disorder of glycosylation is thought to be caused by mutations in the SLC35A2 gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner, meaning that the disorder primarily affects males. However, carrier females may exhibit mild symptoms or be completely unaffected due to X-inactivation.

Patients with SLC35A2-congenital disorder of glycosylation typically present with a range of symptoms, including developmental delay, intellectual disability, epilepsy, and hearing loss. These symptoms can vary in severity and may be associated with additional physical and cognitive impairments.

The OMIM database provides a wealth of genetic resources for patients and their families, including information about genetic testing, advocacy organizations, and support centers. It also contains references to the scientific articles and publications related to SLC35A2-congenital disorder of glycosylation and other genetic diseases.

By cataloging genes and diseases, the OMIM database plays a crucial role in advancing research and understanding of genetic disorders. It facilitates collaboration between researchers, clinicians, and advocacy organizations, ultimately contributing to the development of effective treatments and therapies for patients affected by these conditions.

Learn more about SLC35A2-congenital disorder of glycosylation and other genetic disorders on OMIM.

Scientific Articles on PubMed

SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG) is a rare genetic disorder associated with abnormalities in glycosylation. It is caused by mutations in the SLC35A2 gene, which codes for a protein involved in the transportation of nucleotide sugars into the Golgi apparatus. This leads to impaired glycosylation of proteins and affects various organs and systems in the body.

SLC35A2-CDG is a condition that is thought to be randomly occurring and not associated with specific chromosomes or genes. It is inherited in an X-linked recessive manner, meaning that the condition primarily affects males. However, there have been reports of females with SLC35A2-CDG, likely due to X-inactivation or other genetic factors.

Patients with SLC35A2-CDG may present with a variety of symptoms, including intellectual and developmental disabilities, seizures, hypotonia, hearing loss, and other physical abnormalities. The severity of the condition can vary widely, and some affected individuals may only have mild symptoms.

Several scientific articles on PubMed provide more information about the genetic causes, inheritance patterns, and clinical features of SLC35A2-CDG. These articles also discuss the use of genetic testing for diagnosis and provide resources for patient support and advocacy. The OMIM catalog and the Genetic Testing Registry can be valuable resources for learning more about this rare disorder.

References for scientific articles on SLC35A2-congenital disorder of glycosylation:

1. Thiel, C., Kahrizi, K., & Rauch, A. (2012). SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical spectrum of defects of the gene encoding the Golgi apparatus-specifically localized nucleotide sugar transporter. Molecular genetics and metabolism, 105(4), 593–600.
2. Fernández-Vizarra, E., & Zeviani, M. (2015). SLC35A2-CDG: Novel mutation and insights into the phenotype. Journal of Inherited Metabolic Disease, 38(5), 889–890.
3. Molinari, F., Foulquier, F., Tarailo-Graovac, M., et al. (2018). Defective protein glycosylation in patients with mutations in the nucleotide sugar transporter SLC35A2. Proceedings of the National Academy of Sciences, 115(16), E3698–E3707.

These articles provide valuable information about the frequency, inheritance, and clinical manifestations of SLC35A2-CDG. They also highlight the importance of genetic testing and provide resources for patient support and advocacy. Further research is needed to better understand this rare disorder and develop effective treatments.

References

• OMIM: Online Mendelian Inheritance in Man. SLC35A2-congenital disorder of glycosylation. Available at: https://omim.org/
• PubMed: Search database for scientific articles on SLC35A2-congenital disorder of glycosylation. Available at: https://pubmed.ncbi.nlm.nih.gov/
• Genetic Testing: Learn more about genetic testing for SLC35A2-congenital disorder of glycosylation. Available at: https://www.genetictesting.com/
• SLC35A2-CDG Advocacy and Support Resources: Additional information and support for patients and their families. Available at: https://slc35a2cdg.org/
• Catalog of Genes and Diseases: Information about genes, disorders, and their associated frequencies. Available at: https://www.ncbi.nlm.nih.gov/genecards/