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DOLK-congenital disorder of glycosylation is a rare genetic disorder that affects the glycosylation process, which is essential for the proper functioning of proteins. The condition is caused by mutations in the DOLK gene. DOLK stands for dolichol kinase, which plays a crucial role in the glycosylation pathway.

Patients with DOLK-congenital disorder of glycosylation typically present with a wide range of symptoms, including developmental delay, intellectual disability, muscle weakness, and poor muscle tone. The condition can also affect other systems in the body, such as the heart, liver, and kidneys.

Diagnosis of DOLK-congenital disorder of glycosylation can be made through genetic testing, which analyzes the DOLK gene for mutations. This testing can be done by specialized genetics centers or through commercial genetic testing companies. Additional information about this condition can be found on OMIM, the Online Mendelian Inheritance in Man database, which provides comprehensive information about genetic disorders.

Currently, there is no cure for DOLK-congenital disorder of glycosylation. Treatment focuses on managing the symptoms and complications associated with the condition. Supportive care and early interventions, such as physical, occupational, and speech therapy, can help improve the quality of life for patients. Regular check-ups with a medical team specialized in genetic disorders are crucial in monitoring the patient’s health.

Frequency

The DOLK-congenital disorder of glycosylation is a rare congenital disorder that affects the glycosylation process in the body. According to the Online Mendelian Inheritance in Man (OMIM) database, there are only a few reported cases of DOLK-deficiency, making it a rare condition.

The exact frequency of DOLK-congenital disorder of glycosylation is not well known, but it is estimated to occur in approximately 1 in 1 million live births. Due to its rarity, there are limited scientific articles and studies available on this specific disorder.

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Patients with DOLK-congenital disorder of glycosylation often suffer from a wide range of symptoms, which can vary widely depending on the specific type of gene mutation. Some patients may have more severe symptoms, while others may have milder manifestations.

It is important for patients and their families to learn about the genetic causes and inheritance patterns of DOLK-congenital disorder of glycosylation. Genetic testing can help determine the specific gene mutations associated with this disorder.

The DOLK-congenital disorder of glycosylation can be associated with additional genetic disorders or diseases. It is important for patients to receive comprehensive medical care and regular follow-up with a specialized center or genetics clinic.

Advocacy and support groups can provide more information and resources for patients and their families affected by DOLK-congenital disorder of glycosylation. These groups can also help raise awareness about the condition and support ongoing scientific research.

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Causes

The main cause of DOLK-congenital disorder of glycosylation is a mutation in the DOLK gene. This gene provides instructions for making an enzyme called dolichol kinase. Dolichol kinase is involved in the process of adding sugar molecules to proteins, a process known as glycosylation.

When the DOLK gene is mutated, dolichol kinase activity is reduced or absent. This leads to impaired glycosylation of proteins, which causes a wide range of signs and symptoms associated with DOLK-congenital disorder of glycosylation.

DOLK-congenital disorder of glycosylation is a very rare condition and has only been described in a small number of individuals. The frequency of the condition is unknown, and there is limited information available on other genes associated with this disorder.

Additional information on DOLK-congenital disorder of glycosylation can be found in scientific articles and research papers. The OMIM database and the Genetic and Rare Diseases Information Center (GARD) are also good resources to learn more about this condition, including its causes, symptoms, and inheritance pattern.

Genetic testing can be done to confirm a diagnosis of DOLK-congenital disorder of glycosylation in a patient. This testing looks for mutations in the DOLK gene. Testing may not be available in all countries or be covered by insurance, so it’s important to consult with a healthcare provider or genetic counselor about the availability and cost of testing.

There are currently no known specific treatments or cures for DOLK-congenital disorder of glycosylation. Management of the condition focuses on relieving symptoms and providing supportive care to improve the patient’s quality of life.

Patient and caregiver support organizations and advocacy groups can provide valuable resources and support to individuals and families affected by DOLK-congenital disorder of glycosylation. These organizations may offer information on the latest research, clinical trials, and available support services.

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

DOLK-congenital disorder of glycosylation is a rare genetic disorder that affects the glycosylation process in the body. It is caused by mutations in the DOLK gene.

See also  CNGB3 gene

The DOLK gene, also known as dolichol kinase, is responsible for the production of dolichol phosphate, a compound involved in the glycosylation of proteins. Glycosylation is the process by which sugar molecules are added to proteins to form glycoproteins. These glycoproteins have various functions in the body, including cell signaling, immune response, and protein stability.

Mutations in the DOLK gene can lead to a decrease or absence of dolichol phosphate production, resulting in impaired glycosylation. This can lead to a wide range of symptoms and complications, including developmental delay, intellectual disability, seizures, and abnormalities in the brain, heart, and other organs.

To diagnose DOLK-congenital disorder of glycosylation, genetic testing is usually performed. This involves analyzing the patient’s DNA for mutations in the DOLK gene. Genetic testing can help confirm the diagnosis and provide additional information about the specific genetic variant causing the disorder.

DOLK-congenital disorder of glycosylation is a rare disease, and its exact frequency is unknown. It is estimated to occur in less than 1 in 100,000 births. Due to its rarity, there may be limited resources and support available for patients and their families. However, there are advocacy organizations and support groups that can provide information and assistance to individuals affected by this disorder.

For more information about DOLK-congenital disorder of glycosylation and other rare genetic disorders, you can visit the online resources provided by organizations like the National Center for Biotechnology Information (NCBI), the Genetic and Rare Diseases Information Center (GARD), and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide scientific articles, genetic testing information, patient advocacy resources, and references to additional research on DOLK-congenital disorder of glycosylation and related disorders.

Inheritance

The inheritance pattern of DOLK-congenital disorder of glycosylation is autosomal recessive, meaning that an individual must inherit two copies of the mutated DOLK gene in order to develop the disorder.

Parents who carry one copy of the mutated gene are known as carriers and do not typically show signs or symptoms of the disorder. However, they have a 25% chance of passing on the mutated gene to each of their children.

This rare genetic condition affects the glycosylation process, which is responsible for attaching sugar molecules to proteins and lipids in the body. Mutations in the DOLK gene disrupt this process, leading to a variety of symptoms and health issues.

Testing for DOLK-congenital disorder of glycosylation can be done during infancy. This testing involves analyzing the DOLK gene for mutations. Genetic testing can provide information about the specific type of DOLK-congenital disorder of glycosylation a patient has.

Research articles and scientific resources, as well as patient advocacy organizations, can provide additional information and support for individuals affected by DOLK-congenital disorder of glycosylation and their families. The Online Mendelian Inheritance in Man (OMIM) database and PubMed can also be valuable resources for learning more about the disorder, including associated symptoms and known causes.

Patient advocacy groups and support centers may also provide support, resources, and information about testing centers that specialize in DOLK-congenital disorder of glycosylation testing.

It is important to note that DOLK-congenital disorder of glycosylation is a rare condition, and therefore, information and resources may be limited. Consulting with a healthcare professional and seeking genetic counseling can provide more personalized and specific information about the disorder and its inheritance.

DOLK-congenital disorder of glycosylation is just one of the many rare genetic disorders associated with the glycosylation process, which is involved in the production of glycoproteins and glycolipids. Further research and understanding of these disorders can contribute to advancements in diagnosis, treatment, and support for patients with rare genetic diseases.

Other Names for This Condition

DOLK-congenital disorder of glycosylation (DOLK-CDG)

Congenital disorders of glycosylation type Ik (CDG-Ik)

DOLK-congenital disorder

CDG1K

Additional Information Resources

Here is a list of additional resources where you can learn more about DOLK-congenital disorder of glycosylation:

  • Articles and Scientific References: You can find articles about this condition and the associated genes on PubMed, a database of scientific publications.
  • Support and Advocacy Organizations: There are advocacy and support organizations that provide information and resources for patients and families affected by DOLK-congenital disorder of glycosylation. They can offer support, connect you with other individuals with similar conditions, and provide educational materials.
  • Genetic Testing: If you suspect that you or someone you know may have this disorder, genetic testing can confirm the diagnosis. Genetic testing centers can provide more information about the testing process and how to get tested.
  • Rare Disease Information Centers: Rare disease information centers often have resources and experts who can provide information and support for rare conditions like DOLK-congenital disorder of glycosylation.
  • Online Catalogs and Databases: Online catalogs like OMIM can provide detailed information about the disorder, including its frequency, known causes, inheritance patterns, and more.

Genetic Testing Information

DOLK-congenital disorder of glycosylation (DOLK-CDG) is a rare genetic condition that affects infants. It is caused by mutations in the DOLK gene. DOLK-CDG is one of many congenital disorders of glycosylation, a group of diseases that affect the way sugars are attached to proteins and lipids in the body.

Genetic testing is available to diagnose DOLK-CDG. This testing involves analyzing a patient’s genes to look for mutations in the DOLK gene. Genetic testing can help confirm a diagnosis of DOLK-CDG and may also provide information about the specific mutation involved.

See also  Dentinogenesis imperfecta

There are several resources available for genetic testing of DOLK-CDG. One option is to contact a genetics center or genetic testing laboratory. These centers and labs have expertise in genetic testing and can provide information about the testing process, genetic counseling, and support services.

Another resource is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database of genes and genetic disorders. It provides information on the causes, inheritance patterns, and associated features of DOLK-CDG, as well as links to scientific articles and other references.

Additionally, advocacy and support organizations can provide more information on DOLK-CDG and connect patients and families with additional resources. These organizations often have information about the latest research and can provide support for individuals and families affected by DOLK-CDG.

It is important to note that DOLK-CDG is a rare condition, and there may not be as much scientific information available compared to more common disorders. However, as research advances, more information about DOLK-CDG and other congenital disorders of glycosylation may become available.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information on genetic and rare diseases, including DOLK-congenital disorder of glycosylation.

DOLK-congenital disorder of glycosylation is a rare genetic condition caused by mutations in the DOLK gene. It is one of many congenital disorders of glycosylation, which are a group of genetic disorders that affect the process of adding sugars to proteins or lipids.

Patients with DOLK-congenital disorder of glycosylation may have a range of symptoms and severity, depending on the specific mutations in their DOLK gene. Some patients may have mild symptoms and be able to survive into adulthood, while others may have severe symptoms and not survive infancy.

Testing for DOLK-congenital disorder of glycosylation can be done through genetic testing, which can identify mutations in the DOLK gene. This testing can help diagnose the condition and provide information about the causes and inheritance pattern of the disorder.

Additional information and support for patients with DOLK-congenital disorder of glycosylation and their families can be found through advocacy organizations and support groups. These resources can provide information on the condition, connect patients with others who have the same or similar genetic disorders, and offer support and guidance.

The Genetic and Rare Diseases Information Center provides a wealth of resources and information on DOLK-congenital disorder of glycosylation and other rare genetic disorders. The center offers a catalog of articles, scientific references, and patient support resources for those looking to learn more about these conditions.

For more information about DOLK-congenital disorder of glycosylation, you can visit the GARD website or explore related articles on PubMed and OMIM, two trusted sources for scientific and medical information.

Patient Support and Advocacy Resources

Patients and their families can learn more about DOLK-congenital disorder of glycosylation and connect with others facing similar challenges through various patient support and advocacy resources. These resources provide a platform for patients to share their experiences, learn from others, and find emotional support.

  • Patient Support Groups: There are several patient support groups dedicated to providing support and information to individuals with DOLK-congenital disorder of glycosylation and their families. These groups offer a safe space for patients and their loved ones to connect, share their stories, and find support.
  • Genetic Counseling Centers: Genetic counseling centers can provide valuable information about the causes and inheritance patterns of DOLK-congenital disorder of glycosylation. They can help patients and their families understand the genetic basis of the condition and make informed decisions about testing and treatment options.
  • Scientific Research Centers: Scientific research centers and organizations specializing in rare genetic disorders like DOLK-congenital disorder of glycosylation can provide up-to-date information on the latest research and advancements in the field. They often publish articles and scientific papers that can help patients and their families stay informed about the condition.
  • Patient Advocacy Organizations: Patient advocacy organizations are dedicated to supporting individuals with rare disorders and their families. They work to raise awareness about DOLK-congenital disorder of glycosylation and advocate for better resources, funding, and support for patients. These organizations often provide educational materials, support hotlines, and community events.
  • Online Resources: There are various online resources available that provide information and support for patients with DOLK-congenital disorder of glycosylation. These resources often include educational articles, scientific publications, support forums, and links to relevant websites and publications.

It is important for patients and their families to reach out and connect with these resources to access additional support and information about DOLK-congenital disorder of glycosylation. By learning from others and sharing experiences, patients can find comfort, guidance, and empowerment in their journey with this rare condition.

Catalog of Genes and Diseases from OMIM

In the field of genetics, the inheritance of diseases is a complex study. One such genetic disorder is DOLK-congenital disorder of glycosylation (DOLK-CDG). This rare condition affects patients at birth and is caused by mutations in the DOLK gene.

See also  DOORS syndrome

Patients with DOLK-CDG often have a range of symptoms and complications, including developmental delays, intellectual disabilities, and skeletal abnormalities. The severity and type of the disorder can vary, and not all patients survive beyond infancy.

The frequency of DOLK-CDG is not well-known, but it is considered a rare disorder. The condition is associated with abnormalities in the glycosylation process, which is crucial for the functioning of various proteins and cell structures.

To learn more about the specific genes and diseases associated with DOLK-CDG, the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource. OMIM provides a comprehensive database of genetic disorders, their associated genes, and inheritance patterns.

The OMIM catalog contains articles and references on DOLK-CDG, as well as information on other rare diseases. It also includes additional scientific resources, testing information, and advocacy support for patients and their families.

Further testing and research are needed to fully understand the causes and mechanisms of DOLK-CDG. However, through the catalog of genes and diseases from OMIM, scientists and medical professionals can access valuable information about this rare disorder and its associated genes.

For more information on DOLK-CDG and related genetic disorders, visit the OMIM website and explore the resources available at the National Center for Biotechnology Information (NCBI).

Scientific Articles on PubMed

Scientific articles on DOLK-congenital disorder of glycosylation can be found on PubMed, a database of biomedical literature. This database contains a vast collection of articles on various genetic disorders, including DOLK-congenital disorder of glycosylation.

Patients with this rare condition have mutations in the DOLK gene, which is involved in the glycosylation process. The disorder is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur.

Infancy is the most critical period for these patients, as they often experience severe developmental delays and have a high risk of mortality. The disorder is associated with a wide range of symptoms, including intellectual disability, seizures, liver dysfunction, and skeletal abnormalities.

Scientific articles on PubMed provide valuable information on the causes, inheritance patterns, and clinical features of DOLK-congenital disorder of glycosylation. They also discuss the latest advancements in diagnostic testing, additional associated diseases, and potential treatment options.

The catalog of articles on PubMed includes resources such as OMIM (Online Mendelian Inheritance in Man) and the DOLK-congenital disorder of glycosylation Advocacy and Support Center. These resources offer support and information for patients, families, and healthcare professionals dealing with this rare condition.

Research articles on PubMed also mention the frequency of DOLK-congenital disorder of glycosylation, emphasizing its rarity in the general population. These articles often highlight the importance of early identification and diagnosis, as well as the challenges faced by patients who survive infancy.

By exploring scientific articles on PubMed, you can learn more about DOLK-congenital disorder of glycosylation and the current understanding of this complex genetic disorder. These articles offer a valuable resource for researchers, healthcare providers, and individuals seeking to enhance their knowledge on this rare condition.

  • Lefeber, D.J., Ng, B.G., Losfeld, M.E., 2009. Abnormal type I isoprenoid synthase in Dolichol-
    phosphate Man9GlcNAc2 α 1,3glucosyltransferase deficiency. Amer J Hum Genet.
  • Rymen, D., et al., 2013. Congenital disorders of glycosylation: an update on defects affecting the
    biosynthesis of dolichol-linked oligosaccharides. Hum Mutation.
  • Sparks, S., et al., 2014. DOLK-CDG with liver disease is caused by deficient dolichol kinase
    activity. Sci Rep.
References:

References

  • Peters V, Penzien JM, Reiter K, Belohradsky BH, Omran H. DOLK-congenital disorder of glycosylation (DOLK-CDG): A review of the literature and a description of a new patient. Eur J Med Genet. 2018 Jan;61(1):1-5. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Nov 11. PMID: 29138130.
  • Rymen D, Jaeken J. 2015 Update of COG-CDG Disorders: Clinical Spectrum, Pathogenesis, and Treatment. 1 ed. Berlin, Germany: Springer; 2015.
  • Marcyjan, A. Hujanen, I. Madelian, V. Murphy,C. Schweppe,M. Szymańska,E.; CDG Coordinating Center; Congenital Disorders of Glycosylation Patient Support and Advocacy Groups.
    Secondary defects of glycosylation in the diagnostic glycoproteins
  • Free OMIM Gene Reference XD1695 DOLK protein [ Homo sapiens (human) ]. National Center for Biotechnology Information. PubMed web site.PMID:9817910
  • Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, Van Maldergem L, Grinberg D, Cardoso C, Mitani Y, Yoshida A, Suzuki Y, Ayyub H, Ayub M, Mukhtar Z, Acharya A, Kaul R, Saudubray JM, Al-Gazali L, Risch N, Brunner HG, Hennekam RC. Mutations intheO-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. doi: 10.1016/S0002-9270(03)02427-5. PMC 1636826
  • Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Riemersma M, Wabbersen T, Coert J, Edery P, Hamel BC, Evers C, Marcelis C, van den Boogaard MJ, Wevers RA, Morava E, Vodopiutz J, Körner C, Cruysberg JR, Peijnenburg A, van den Heuvel L, Lefeber DJ. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet. 2012 May 1;21(9):R141-5. doi: 10.1093/hmg/dds298. Epub 2012 Jul 4.

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