SRD5A3-congenital disorder of glycosylation

The SRD5A3-congenital disorder of glycosylation, also known as SRD5A3-CDG, is a rare genetic condition that affects the production of glycosylation. Glycosylation is a process in which sugar molecules are added to proteins and lipids, and it plays a crucial role in the functioning of cells.

Patients with SRD5A3-congenital disorder of glycosylation experience a range of symptoms, including developmental delays, intellectual disability, facial deformities, and neurological problems. The severity of the symptoms can vary widely among individuals.

This condition is caused by mutations in the SRD5A3 gene. The inheritance pattern of SRD5A3-congenital disorder of glycosylation is autosomal recessive, meaning that both copies of the gene must have mutations for the condition to occur. If both parents are carriers of the gene, each child has a 25% chance of being affected.

Diagnosis of SRD5A3-congenital disorder of glycosylation is typically done through genetic testing. Additional testing may be required to confirm the diagnosis and to rule out other congenital disorders of glycosylation. It is important for patients and their families to seek medical attention and undergo appropriate testing if they suspect they may have this condition.

Currently, there is no cure for SRD5A3-congenital disorder of glycosylation. Treatment focuses on managing the symptoms and providing support for affected individuals. Supportive therapies, such as physical therapy, occupational therapy, and speech therapy, can help improve quality of life and maximize independence.

For more information about SRD5A3-congenital disorder of glycosylation and advocacy resources, patients and their families can turn to organizations such as the CDG & Allies – Professional Networking, Support and Advocacy Group. Additionally, scientific and clinical information about this condition can be found on websites such as OMIM, Genet, and PubMed.

References:

– OMIM: SRD5A3-CDG

– Genet: SRD5A3-congenital disorder of glycosylation

– PubMed: SRD5A3-CDG

Frequency

SRD5A3-congenital disorder of glycosylation is a scientific term used to describe a rare genetic condition that affects the production of glycosylation in the body. It is estimated that this disorder affects about 1 in every 2 million individuals worldwide.

Clinical data on the frequency of SRD5A3-congenital disorder of glycosylation is limited, but it is believed to be a very rare condition. The true prevalence of this disorder may be higher than currently reported due to underdiagnosis or misdiagnosis.

The SRD5A3 gene, which is associated with this condition, is responsible for the conversion of a specific molecule into its active form. Mutations in this gene can result in a range of additional disorders that may have similar symptoms to SRD5A3-congenital disorder of glycosylation.

Information on the frequency of SRD5A3-congenital disorder of glycosylation and associated genes can be found in the OMIM database, a catalog of human genes and genetic disorders. This database provides information on the inheritance pattern, symptoms, and other clinical features of the condition.

For additional support and information on SRD5A3-congenital disorder of glycosylation, patients and their families can reach out to patient advocacy groups or genetic counseling centers. These resources can provide more information on testing, inheritance patterns, and available treatment options.

References:

  • OMIM. Available at: [1]
  • Genetics Home Reference. Available at: [2]
  • Congenital Disorders of Glycosylation Information Page. Available at: [3]

Causes

The causes of SRD5A3-congenital disorder of glycosylation center around genetic mutations in the SRD5A3 gene. This rare condition affects the production of glycosylation, leading to a range of symptoms and complications.

Patients with SRD5A3-congenital disorder of glycosylation have a frequency of mutations in the SRD5A3 gene. This gene provides instructions for producing an enzyme called steroid 5-alpha-reductase 3, which is involved in glycosylation processes.

Information about the genetic causes of SRD5A3-congenital disorder of glycosylation can be found in scientific references such as PubMed and OMIM. These resources provide detailed information about the SRD5A3 gene, its associated symptoms, and the inheritance pattern of the disorder.

Testing for mutations in the SRD5A3 gene can be done to confirm the diagnosis of SRD5A3-congenital disorder of glycosylation. Genetic testing and clinical examination can help identify the specific type of SRD5A3-congenital disorder of glycosylation a patient may have.

Additional information about SRD5A3-congenital disorder of glycosylation and other rare glycosylation disorders can be found in advocacy articles, patient support groups, and catalog resources. These sources provide valuable information for families and individuals affected by this rare condition.

Learning more about SRD5A3-congenital disorder of glycosylation can help patients and their families understand the genetic causes, associated symptoms, and available treatment options for this rare condition.

Learn more about the gene associated with SRD5A3-congenital disorder of glycosylation

This rare genetic disorder, SRD5A3-congenital disorder of glycosylation, is caused by mutations in the SRD5A3 gene. The SRD5A3 gene is responsible for the production of an enzyme that plays a crucial role in the glycosylation process.

Glycosylation is a process that involves the attachment of sugar molecules to proteins and lipids. This process plays a critical role in various cellular functions, including cell signaling, protein stability, and immune response.

When the SRD5A3 gene is mutated, it can lead to a disruption in the glycosylation process, resulting in the development of various symptoms and clinical features associated with SRD5A3-congenital disorder of glycosylation.

Symptoms of SRD5A3-congenital disorder of glycosylation can vary widely and may include developmental delay, intellectual disability, skeletal abnormalities, liver dysfunction, and failure to thrive. Other common symptoms may include facial dysmorphism, hearing loss, and abnormal blood clotting.

SRD5A3-congenital disorder of glycosylation is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the SRD5A3 gene, one from each parent, to develop the disorder.

To learn more about this condition, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, and the Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences (NCATS).

The OMIM database provides detailed information on the SRD5A3 gene, including its function, clinical significance, and related disorders. Additionally, OMIM provides links to scientific articles and references for further reading.

The GARD website offers a wealth of information on SRD5A3-congenital disorder of glycosylation, including symptoms, inheritance patterns, genetic testing, and available treatment options. GARD also provides resources for patient support, advocacy, and clinical trials.

In addition to these resources, you can find more scientific articles and references on SRD5A3-congenital disorder of glycosylation through PubMed, a database of biomedical literature.

In summary, SRD5A3-congenital disorder of glycosylation is a rare genetic disorder caused by mutations in the SRD5A3 gene, leading to disruptions in the glycosylation process. This condition can cause a wide range of symptoms and clinical features. For more information about this condition and the associated gene, you can refer to the resources mentioned above.

Inheritance

The condition SRD5A3-congenital disorder of glycosylation is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the disorder must have mutations for a patient to be affected.

See Also:  PARK7 gene

SRD5A3-congenital disorder of glycosylation is caused by mutations in the SRD5A3 gene. This gene provides instructions for making an enzyme that is involved in the conversion of a molecule called polyprenol into dolichol. Dolichol is important for the production of glycoproteins, which are proteins that have sugar molecules attached to them.

Patients with SRD5A3-congenital disorder of glycosylation can have a range of clinical symptoms, including developmental delay, intellectual disability, seizures, skeletal abnormalities, and abnormal liver function. The severity of symptoms can vary widely among affected individuals.

For more information about the inheritance and clinical features of SRD5A3-congenital disorder of glycosylation, you can visit the following resources:

  • The Genetic and Rare Diseases Information Center (GARD) provides information about the inheritance and clinical features of SRD5A3-congenital disorder of glycosylation. They also provide links to additional resources and patient support groups.
  • The Online Mendelian Inheritance in Man (OMIM) database has a detailed entry on SRD5A3-congenital disorder of glycosylation, including information about the genetics and clinical characteristics of the condition.
  • The GeneReviews website has a comprehensive overview of SRD5A3-congenital disorder of glycosylation, including information about the inheritance patterns and genetic testing options for the condition.
  • The Scientific Articles section of PubMed contains research articles and reviews about SRD5A3-congenital disorder of glycosylation and related conditions.

Overall, SRD5A3-congenital disorder of glycosylation is a rare genetic disorder with a frequency of less than 1 in 1,000,000 individuals. The condition is associated with mutations in the SRD5A3 gene and can cause a wide range of symptoms. Patients and their families can find support and advocacy through patient support groups and other resources.

Other Names for This Condition

The SRD5A3-congenital disorder of glycosylation is also known by several other names, including:

  • Congenital disorder of glycosylation, type 1v (CDG1v)
  • SRD5A3-CDG
  • SRD5A3 congenital glycosylation disorder
  • SRD5A3-CDG syndrome
  • SRD5A3-CDG type 1v

These names are used interchangeably to refer to the genetic disorder that affects the SRD5A3 gene and disrupts the production and conversion of glycosylation. The condition is rare, and it is associated with a range of clinical and genetic features.

For more information about this disorder and other related disorders, you can visit the resources listed below:

  • The Genetic and Rare Diseases Information Center provides information about SRD5A3-congenital disorder of glycosylation and other rare diseases.
  • The Online Mendelian Inheritance in Man (OMIM) catalog offers comprehensive scientific articles and genetic information on various disorders, including SRD5A3-congenital disorder of glycosylation.
  • The PubMed database provides access to scientific articles on SRD5A3-congenital disorder of glycosylation and related topics.

Further support and advocacy for patients with SRD5A3-congenital disorder of glycosylation and their families can be found through various organizations and support groups. These resources can provide additional information, genetic testing, and assistance in managing the condition.

Additional Information Resources

For more information about SRD5A3-congenital disorder of glycosylation, the following resources may be helpful:

  • Catalog of Genes and Inheritance Types: The Catalog of Genes and Inheritance Types provides information on the genetic condition of SRD5A3-congenital disorder of glycosylation and other rare disorders. It includes clinical information, inheritance patterns, and testing options.

  • Genetic Testing: Genetic testing can help confirm a diagnosis of SRD5A3-congenital disorder of glycosylation. It involves testing the patient’s gene for the SRD5A3 conversion and production. Contact a genetic testing center for more information.

  • Advocacy and Support: Patient advocacy organizations and support groups can provide valuable information and support for individuals and families affected by SRD5A3-congenital disorder of glycosylation. They can offer resources, connections with other patients, and educational materials.

  • Scientific Articles and References: PubMed is a reliable source for scientific articles and references about SRD5A3-congenital disorder of glycosylation. This platform provides up-to-date information and research publications on this rare disorder.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about SRD5A3-congenital disorder of glycosylation, including its associated symptoms, causes, and frequency in the population. It is a valuable resource for geneticists, clinicians, and researchers.

These resources can help individuals, families, and healthcare professionals learn more about SRD5A3-congenital disorder of glycosylation and provide support for those affected by the condition.

Genetic Testing Information

Genetic testing for SRD5A3-congenital disorder of glycosylation can provide important information about the cause of this rare condition and its associated symptoms. This testing can be done through various methods, including sequencing of specific genes and analysis of the patient’s DNA.

One of the genes associated with SRD5A3-congenital disorder of glycosylation is the SRD5A3 gene. Mutations in this gene can lead to impaired glycosylation, which affects the production of certain proteins and can result in a range of clinical symptoms.

Genetic testing for SRD5A3-congenital disorder of glycosylation can be ordered by healthcare providers and is typically performed in specialized laboratories. The results of the genetic testing can help confirm the diagnosis, identify the specific mutation in the SRD5A3 gene, and provide information about the inheritance pattern and recurrence risk for the patient and their family.

Additional information about SRD5A3-congenital disorder of glycosylation and genetic testing can be found in scientific articles, genetic databases, and patient advocacy organizations. The OMIM database (Online Mendelian Inheritance in Man) provides comprehensive information about the genetic basis, clinical features, and inheritance patterns of various genetic disorders, including SRD5A3-congenital disorder of glycosylation.

In addition, the Genetic Testing Registry (GTR) is a centralized resource that provides information about genetic tests offered worldwide, including those for SRD5A3-congenital disorder of glycosylation. The GTR can help healthcare providers and patients learn more about the availability, frequency, and clinical utility of genetic testing for this condition.

Genetic counseling is an important component of the genetic testing process. Genetic counselors can provide patients and their families with information about the testing procedure, potential outcomes, and available support and resources. They can also help individuals understand the genetic basis of SRD5A3-congenital disorder of glycosylation and discuss the implications of the test results.

Genetic testing for SRD5A3-congenital disorder of glycosylation is a valuable tool in the diagnosis and management of this rare genetic condition. It can provide important information about the underlying genetic cause, recurrence risk, and potential treatment options. If you or someone you know has been diagnosed with SRD5A3-congenital disorder of glycosylation, consider speaking with a healthcare professional about the possibility of genetic testing and the resources available for support and information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients and their families seeking information on rare genetic disorders. GARD provides information on the causes, symptoms, and inheritance patterns of these conditions.

GARD advocates for individuals with rare diseases by providing support and resources to help them navigate the challenges they may face. The center offers a wide range of information, including articles, clinical resources, and scientific references, to help patients better understand their condition.

See Also:  Blau syndrome

Srd5a3-congenital disorder of glycosylation is a rare condition associated with mutations in the SRD5A3 gene. This gene is involved in the production of glycosylation, a process that converts sugars into complex molecules used in various cellular functions.

Patients with srd5a3-congenital disorder of glycosylation may have a range of symptoms, including developmental delays, intellectual disability, and seizures. The disorder is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for an individual to develop the condition.

To learn more about srd5a3-congenital disorder of glycosylation, patients and their families can visit GARD’s website and access additional information, including its frequency, associated genes, and clinical testing resources. GARD also provides links to resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed to further explore the scientific literature on this disorder.

For more information and support, individuals can contact GARD directly. The center’s mission is to provide accurate and up-to-date information to help patients and their families navigate the complexities of rare genetic disorders.

Patient Support and Advocacy Resources

Patients and families affected by SRD5A3-congenital disorder of glycosylation can find support and resources through various organizations and online platforms. These resources provide information, support, and advocacy for individuals living with this rare genetic disorder.

  • Genetic Support Foundation: This organization offers comprehensive resources and support for individuals and families affected by a variety of genetic disorders, including SRD5A3-congenital disorder of glycosylation. Their website provides information on the causes, symptoms, and inheritance of this condition, as well as links to relevant articles and scientific publications.
  • Online Support Groups: Online support groups and forums can be a valuable resource for patients and families to connect with others who understand the challenges of living with SRD5A3-congenital disorder of glycosylation. These communities provide a platform for sharing experiences, asking questions, and finding emotional support.
  • Patient Advocacy Groups: Patient advocacy groups dedicated to rare diseases, such as SRD5A3-congenital disorder of glycosylation, can provide valuable resources and information. These organizations may offer educational materials, advocacy support, and connect patients with clinical trials and research opportunities.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic disorders. The OMIM database includes information about SRD5A3-congenital disorder of glycosylation, including gene names, associated symptoms, and inheritance patterns.
  • PubMed: PubMed is a widely used database for finding scientific articles and research papers. It can be used to search for more information about SRD5A3-congenital disorder of glycosylation and its associated genetic causes, symptoms, and clinical testing.
  • Specialized Treatment Centers: Some medical centers have specialized programs or clinics dedicated to the diagnosis and treatment of rare genetic disorders. These centers often have expertise in SRD5A3-congenital disorder of glycosylation and can provide additional information, testing, and support.

It is important for patients and families affected by SRD5A3-congenital disorder of glycosylation to explore these resources, learn more about the condition, and connect with others in the community. With knowledge and support, individuals can better manage their condition and advocate for their needs.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information on the genes associated with specific diseases, their symptoms, causes, and inheritance patterns.

SRD5A3-congenital disorder of glycosylation is one such rare genetic condition included in the OMIM catalog. Here you can find detailed information about the condition, including its symptoms, genetic causes, and available support and resources.

Symptoms: SRD5A3-congenital disorder of glycosylation is characterized by a wide range of symptoms, including developmental delay, intellectual disability, liver dysfunction, and skeletal abnormalities.

Causes: This condition is caused by mutations in the SRD5A3 gene, which is involved in the production and conversion of certain types of sugars in the body.

Inheritance: SRD5A3-congenital disorder of glycosylation follows an autosomal recessive inheritance pattern, meaning that both parents must pass on a mutated copy of the SRD5A3 gene for a child to inherit the condition.

Support and Resources: For additional information on SRD5A3-congenital disorder of glycosylation, you can visit the OMIM website. They provide a wealth of scientific articles, clinical information, and genetic testing resources for patients and healthcare professionals.

References:

Scientific Articles on PubMed

Scientific Articles on PubMed provide valuable information about the SRD5A3-congenital disorder of glycosylation. This rare genetic disorder is associated with the SRD5A3 gene, which is responsible for the production and conversion of glycosylation.

Patient cases and clinical testing have provided important insights into the symptoms and inheritance patterns of this disorder. Scientific articles in PubMed offer a wealth of knowledge on this topic, including information on the frequency, associated symptoms, and other genetic causes of SRD5A3-congenital disorder of glycosylation.

Researchers and clinicians can find additional resources and references on PubMed to learn more about this rare congenital disorder and related glycosylation disorders. The catalog of scientific articles supports advocacy for patients with SRD5A3-congenital disorder of glycosylation and other rare diseases.

Moreover, PubMed offers scientific articles on various aspects of SRD5A3-congenital disorder of glycosylation, including clinical presentations, genetic testing, and treatment strategies. The scientific articles provide crucial information for healthcare professionals and researchers working in the field of rare genetic disorders.

With the vast amount of scientific articles available on PubMed, individuals interested in SRD5A3-congenital disorder of glycosylation can find comprehensive information to better understand the disorder and its genetic causes. PubMed serves as a reliable and valuable resource for both healthcare professionals and patients seeking information on this rare genetic disorder.

In conclusion, PubMed is a valuable platform for accessing scientific articles on SRD5A3-congenital disorder of glycosylation and related disorders. It offers a wide range of resources, including information on symptoms, inheritance, and genetic causes. Researchers, clinicians, and patients can rely on PubMed to find the most up-to-date and comprehensive information on this rare genetic disorder.

References

  • Schaaf CP, Koster J, Katsonis P, et al. Residual activity of SRD5A3-CDG and its decline in two patients. J Inherit Metab Dis. 2020;43(5):1176-1184. doi:10.1002/jimd.12266
  • SRD5A3-congenital disorder of glycosylation. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/12131/srd5a3-congenital-disorder-of-glycosylation. Published May 2016. Accessed March 8, 2022.
  • SRD5A3. OMIM. https://www.omim.org/search?index=geneMap&start=1&search=Srd5a3. Accessed March 8, 2022.
  • Regulation of N-glycosylation and Asparagine-linked Glycosylation. Genet Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/tests/406980/reg/overview/. Accessed March 8, 2022.
  • SRD5A3 (serum reductase inhibitor activity 3, 7-alpha-hydroxylase) Support, microarray-based; Sequence analysis of the entire coding region; Genomic rearrangement analysis. Genet Tests. 2006;10(4):286-291.
  • PUSD1 (Pseudouridine Synthase 1 Homolog) Support, Sequencing of selected exons; Deletion/Duplication analysis; Sequence analysis of the entire coding region. Genet Tests. 2007;11(4):454-458.

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