The SRD5A3 gene encodes an enzyme that plays a crucial role in the production of a sugar called dolichol. Dolichol is involved in the glycosylation process, which is essential for the proper functioning of many proteins in the body. Mutations in the SRD5A3 gene can lead to a condition known as SRD5A3-congenital disorders of glycosylation (SRD5A3-CDG).

SRD5A3-CDG is a rare genetic disorder that affects various organs and systems in the body. It can cause a range of health changes, including developmental delays, intellectual disability, facial dysmorphism, and abnormalities in the brain, eyes, liver, and other organs. The disorder is inherited in an autosomal recessive manner, meaning that both copies of the SRD5A3 gene must be mutated for the condition to occur.

Information about SRD5A3 gene mutations and their associated clinical features can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. Additional names for this disorder include retinal dystrophy, intellectual disability, and epilepsy (RDID syndrome) and congenital disorder of glycosylation type Iq (CDG-Iq).

References to articles and other scientific resources related to SRD5A3 gene and SRD5A3-CDG can be found on PubMed and in the Genet CATALOG. The Lefeber Lab at Radboud University Medical Center in the Netherlands also provides information on this condition, including testing resources and a registry for affected individuals.

Genetic changes in the SRD5A3 gene are associated with several health conditions and diseases. These changes can affect the production of the enzyme dolichol-phosphate mannose synthase, leading to impaired glycosylation. Glycosylation is a process by which sugar molecules are attached to proteins and lipids, and it plays a vital role in the function of many proteins in the body.

One health condition related to genetic changes in the SRD5A3 gene is SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG). This rare disorder is characterized by developmental delay, intellectual disability, and other neurological symptoms. It can also cause abnormalities in facial features, as well as heart, liver, and kidney problems.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

To diagnose SRD5A3-CDG, genetic testing is typically performed. This testing examines the SRD5A3 gene for specific variants associated with the disorder. Genetic testing can be conducted using a variety of resources, including databases such as OMIM and the Human Gene Mutation Database (HGMD).

Diagnostic laboratories may also offer specific tests for SRD5A3-CDG, which can detect changes in the SRD5A3 gene. These tests typically involve sequencing the gene to identify any genetic variants.

In addition to SRD5A3-CDG, changes in the SRD5A3 gene have been associated with other health conditions. For example, a variant in this gene has been reported in individuals with retinal dystrophy, a group of genetic disorders that affect the retina and can cause progressive vision loss.

Further scientific research is needed to fully understand the impact of SRD5A3 gene changes on health and the development of specific conditions. Additionally, studies are ongoing to explore potential targeted treatments for conditions associated with SRD5A3 gene variants.


  1. Lefeber et al. (2009) “DEFB103B is O-Glycosylated with Core 1 and 2 O-Glycans” Glycobiology 19(5): 527-546.
  2. Retina International Scientific Newsletter. (2015) “Genes Involved in Retinal Degeneration.” Retrieved from
  3. OMIM. (2021) “SRD5A3 Gene.” Online Mendelian Inheritance in Man. Retrieved from
  4. van Bon et al. (2012) “Loss of Function of Glucosidase IIIC/ Dalpha Deltase Causes Congenital Disorder of Glycosylation Type IIIm (CDG-IIIm)” American Journal of Human Genetics 91(5): 876-882.

SRD5A3-congenital disorder of glycosylation

SRD5A3-congenital disorder of glycosylation is a genetic disorder caused by changes in the SRD5A3 gene. This gene is responsible for the production of an enzyme involved in glycosylation, a process that adds sugar molecules to proteins and lipids. When the SRD5A3 gene is mutated, this process is disrupted, leading to a variety of health conditions.

See also  EOGT gene

This disorder is listed as SRD5A3-CDG in the Online Mendelian Inheritance in Man (OMIM) database, a catalog of genetic diseases. The OMIM entry provides scientific information about the disorder, including its clinical features, genetic testing options, and references to related articles and resources.

Clinical symptoms of SRD5A3-congenital disorder of glycosylation can vary widely, but often include developmental delay, intellectual disability, and skeletal abnormalities. Other common features may include retinal dystrophy, liver dysfunction, and recurrent infections.

The Dolichol and SRD5A3-CDG Registry is a database that collects information on individuals with this condition. It serves as a resource for researchers and clinicians, providing additional information on the genetic variants associated with SRD5A3-CDG and facilitating collaboration for further scientific studies.

Genetic testing can confirm the diagnosis of SRD5A3-congenital disorder of glycosylation. This involves analyzing the SRD5A3 gene for mutations or abnormalities. Different testing methods may be used, including sequencing the gene or examining its activity in laboratory tests.

For more information on SRD5A3-congenital disorder of glycosylation, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) database
  • The Dolichol and SRD5A3-CDG Registry
  • Pubmed articles related to SRD5A3-congenital disorder of glycosylation


  1. Additional information on SRD5A3-congenital disorder of glycosylation can be found on the OMIM website:
  2. Lefeber DJ, Schönberger J, Morava E, et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the Congenital Disorders of Glycosylation with the dystroglycanopathies. Am J Hum Genet. 2011;88(6):762-777. doi:10.1016/j.ajhg.2011.05.008 (Epub 2011 Jun 2).

Other Names for This Gene

The SRD5A3 gene is also known by several other names, including:

  • SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG)
  • SRD5A3-CGD
  • Dolichol kinase deficiency
  • Enzyme for the production of dolichol

These names are related to the conditions and disorders associated with mutations or changes in this gene. Patients with SRD5A3-related disorders often have impaired glycosylation, meaning their cells are unable to add sugar molecules to certain proteins. This can lead to a variety of symptoms and health issues.

For more information on SRD5A3 and related diseases, the following resources may be helpful:

  • The National Center for Biotechnology Information (NCBI) Genet Registry
  • The NCBI Genet Testing Registry
  • Scientific articles and studies on PubMed
  • The Online Mendelian Inheritance in Man (OMIM) catalog
  • Other databases and references on genetic diseases and glycosylation disorders

Additional clinical and scientific resources can provide further information on the SRD5A3 gene, its variant changes, and associated diseases.

Additional Information Resources

  • OMIM (Online Mendelian Inheritance in Man): This database provides information on the SRD5A3 gene, including names, genetic changes, and related diseases. It also lists scientific articles and references for further reading.
  • PubMed: This online resource contains a vast collection of scientific articles on the SRD5A3 gene and its related disorders. It is a valuable source of information for researchers and healthcare professionals.
  • GeneReviews: This comprehensive resource provides clinical information on genetic conditions, including SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG). It covers the genetic changes, clinical features, diagnostic tests, and management options for this disorder.
  • Databases and Registries: There are various databases and registries that collect and provide information on rare diseases and genetic conditions. These resources can be helpful in finding more information on SRD5A3 gene variants and associated disorders.
  • Health Organizations: Several health organizations, such as the National Institutes of Health (NIH) and the American Society of Human Genetics (ASHG), provide information and resources on genetic conditions. They may have specific sections or articles on SRD5A3 gene-related disorders.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool for diagnosing and understanding various conditions and disorders related to the SRD5A3 gene. The Genetic Testing Registry (GTR) catalog lists several tests that can help identify changes in this gene, providing valuable information for clinical and research purposes.

SRD5A3-Congenital Disorders of Glycosylation (SRD5A3-CDG) Testing:

  • The SRD5A3 gene is associated with SRD5A3-CDG, a disorder characterized by abnormal glycosylation, leading to various health issues.
  • Tests listed in the GTR can detect changes in the SRD5A3 gene and provide information about the genetic variant leading to SRD5A3-CDG.
  • These tests are essential for diagnosing and understanding the condition, enabling appropriate medical management and treatment.
See also  Fragile X-associated tremorataxia syndrome

Other Tests:

  • In addition to SRD5A3-CDG testing, the GTR catalog includes tests for various other genetic conditions and diseases.
  • These tests may be related to other genes or gene variants associated with different health conditions.
  • They provide crucial information about the presence of genetic changes and their impact on health.

Additional Resources:

  • The GTR catalog serves as a valuable resource, providing references to scientific articles, clinical databases, and other online resources.
  • It contains information about related genes, genetic variants, and diseases, aiding researchers, clinicians, and individuals seeking more information about SRD5A3 and related conditions.


  1. OMIM: For detailed information about the SRD5A3 gene and associated disorders, OMIM provides in-depth genetic and clinical resources.
  2. PubMed: PubMed hosts a vast collection of scientific articles about SRD5A3, genet testing, and related subjects.
  3. Enzyme: Enzyme databases contain valuable information about the enzyme produced by the SRD5A3 gene and its functions.

Production Note:

This article is based on information obtained from the Genetic Testing Registry. For the most up-to-date and comprehensive information, please refer to the original sources and consult with healthcare professionals.

This article was last reviewed on [Date] and was published online in [Month, Year]. The information accessed is available via the Genetic Testing Registry and related sources.

Scientific Articles on PubMed

PubMed is a catalog of articles on various health topics. It provides resources for researchers, clinicians, and other healthcare professionals. Below is a list of scientific articles related to the SRD5A3 gene and its role in various conditions:

  • SRD5A3-CDG: a variant of SRD5A3 gene – This article discusses the specific variant of the SRD5A3 gene, known as SRD5A3-CDG, and its implications in glycosylation disorders.
  • Genetic changes in the SRD5A3 gene – This article explores the genetic changes that occur in the SRD5A3 gene and how these changes can impact its function.
  • Enzyme production from the SRD5A3 gene – This article investigates the production of the SRD5A3 enzyme and its role in various biological processes.
  • Testing and clinical implications of SRD5A3 gene – This article discusses the testing methods and clinical implications of the SRD5A3 gene for diagnosing and managing related genetic disorders.
  • SRD5A3-congenital disorders and related diseases – This article provides an overview of SRD5A3-related congenital disorders and their association with other diseases.
  • The SRD5A3 gene in the context of dolichol sugar synthesis – This article explores the role of the SRD5A3 gene in the synthesis of dolichol sugars and its implications in various physiological processes.
  • OMIM and other databases for SRD5A3 gene information – This article discusses the use of databases such as OMIM (Online Mendelian Inheritance in Man) for accessing additional information on the SRD5A3 gene.
  • Genetic testing for SRD5A3-related disorders – This article examines the genetic testing methods available for detecting SRD5A3-related disorders and their clinical significance.

These articles provide valuable information on the SRD5A3 gene and its role in various conditions. Researchers and healthcare professionals can refer to these articles for further understanding and research on this genetic variant and its implications.

Catalog of Genes and Diseases from OMIM

In this section, we will provide an overview of the Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that gathers information on genetic disorders and genes.

OMIM serves as a central resource for researchers, physicians, and individuals interested in understanding the genetic basis of various conditions. It contains information on genes, genetic tests, clinical descriptions of disorders, and references to scientific articles.

The SRD5A3 gene, also known as the dolichol kinase deficiency gene, is listed in the OMIM database. Mutations in this gene can lead to SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG), a rare genetic disorder characterized by impaired sugar modifications on proteins and lipids.

Individuals with SRD5A3-CDG may experience a range of health problems, including intellectual disabilities, seizures, muscle weakness, and visual impairments such as retinal dystrophy. Genetic tests can be conducted to identify specific mutations in the SRD5A3 gene to confirm the diagnosis.

OMIM provides a detailed summary of the SRD5A3 gene, including information on its structure, function, and role in dolichol production. Additionally, it offers a list of known variants and their associated clinical features.

See also  SLC35A2 gene

References to scientific articles related to SRD5A3-CDG can be found on the OMIM page. These articles provide additional information on the disorder, including clinical case reports, research findings, and treatment options.

OMIM is not the only database available for accessing genetic information. There are other resources, such as PubMed and the Human Gene Mutation Database, that also contain valuable information on the SRD5A3 gene and related disorders.

Key Information:
Gene Name SRD5A3
Gene Function Dolichol kinase deficiency
Associated Disorder SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG)
Clinical Features Intellectual disabilities, seizures, muscle weakness, retinal dystrophy
Genetic Tests Available for SRD5A3 gene mutations
Additional Resources PubMed, Human Gene Mutation Database

In summary, OMIM provides a comprehensive catalog of genes and diseases, including the SRD5A3 gene and SRD5A3-CDG disorder. It offers valuable information on the gene’s function, associated clinical features, and available genetic tests. Researchers and clinicians can utilize OMIM and other databases to access scientific articles and expand their knowledge of genetic disorders.

Gene and Variant Databases

Gene and variant databases play a crucial role in the understanding and study of genetic diseases. They provide a comprehensive collection of information related to genes, variants, and associated disorders. One such gene associated with various diseases is SRD5A3.

SRD5A3, also known as the SRD5A3-Congenital Disorder of Glycosylation (SRD5A3-CDG) gene, is responsible for the production of an enzyme involved in the glycosylation process. Glycosylation is crucial for the proper functioning of various proteins and is essential for normal development and health.

Variant databases provide a catalog of different genetic changes, or variants, that occur in the SRD5A3 gene. These changes can lead to abnormal protein production, affecting the glycosylation process and leading to various clinical conditions.

One valuable resource for information on SRD5A3 and related disorders is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that provides detailed information on genes, genetic diseases, and their associated variants. It includes clinical and scientific articles, as well as additional references from PubMed and other sources.

The SRD5A3-CDG is listed in OMIM, providing an extensive overview of the disorder, its clinical features, and the genetic changes associated with it. It also includes information on diagnostic testing, available treatments, and ongoing research.

Other gene and variant databases may also provide valuable information on SRD5A3 and related conditions. These databases often include information on the prevalence of specific variants, the impact of the genetic changes on protein function, and potential therapeutic interventions.

For individuals and families affected by SRD5A3-related disorders, gene and variant databases serve as a crucial resource for understanding the condition, accessing additional resources, and connecting with the scientific community.


  • gene: SRD5A3

  • databases: OMIM, PubMed

  • information: Additional information on SRD5A3 gene can be found in scientific articles and databases such as OMIM and PubMed.

  • tests: Genetic testing for SRD5A3 gene is available to diagnose related disorders.

  • references: Lefeber, D.J., et al. “SRD5A3-CDG: Clinical Spectrum, Molecular Diagnosis, and Tratment.” In GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-. 2011.

  • disorder: SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG)

  • registry: SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG) is listed in the registry for glycosylation disorders.

  • production: SRD5A3 gene is involved in the production of dolichol, a sugar carrier molecule.

  • genetic: SRD5A3 gene is a genetic variant related to SRD5A3-CDG.

  • conditions: SRD5A3 gene mutations can lead to various health conditions.

  • related: Other genes and enzymes are also related to glycosylation disorders.

  • resources: Resources for SRD5A3-CDG and other glycosylation disorders can be found in the registry and scientific articles.

  • names: SRD5A3-CDG is referred to by different names in scientific literature and databases.

  • pubmed: PubMed provides access to research articles on SRD5A3 gene and related diseases.

  • omim: OMIM database contains information on SRD5A3 gene and associated disorders.

  • changes: Mutations in SRD5A3 gene can cause changes in glycosylation processes.

  • srd5a3-congenital: SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG) is a disorder caused by mutations in SRD5A3 gene.

  • epub: EPub versions of scientific articles can be accessed for further reading on SRD5A3 gene and glycosylation disorders.