Transcobalamin deficiency is a rare genetic condition associated with the failure to transport cobalamin, also known as vitamin B12, within the body’s cells. This deficiency leads to a wide range of cellular and neurological symptoms, causing significant morbidity and mortality in affected individuals.

The inheritance pattern of transcobalamin deficiency is autosomal recessive, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the condition. The genetic basis of this disorder has been extensively studied, with several genes identified and cataloged in resources such as OMIM and PubMed.

Clinical trials.gov is a valuable resource for additional information on ongoing studies and testing for transcobalamin deficiency. Advocacy groups and research centers also offer support and resources for patients and families affected by this rare condition. Scientific articles, patient stories, and other clinical trials.gov provide a wealth of knowledge on the symptoms, causes, and testing of transcobalamin deficiency.

Frequency

Transcobalamin deficiency is a rare genetic condition that is associated with neurological diseases. The frequency of this condition is not well known, but it is thought to be a rare disorder.

There are only a few articles and scientific studies that have been published on this condition, with limited information available. However, research is ongoing to better understand the frequency and causes of this genetic deficiency.

Patients with transcobalamin deficiency may develop clinical symptoms such as neurological abnormalities and failure to thrive. Genetic testing can be performed to confirm the diagnosis.

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Currently, there are no compounds or specific treatments available for transcobalamin deficiency. Supportive care and management of the symptoms are the main approaches for patients with this condition.

For more information on testing, resources, and advocacy support for transcobalamin deficiency, clinicaltrialsgov and OMIM are valuable resources. Additional information can also be found at genetic testing centers and research catalogs.

Resources Websites
Clinical Trials clinicaltrialsgov.org
OMIM omim.org

Researchers are continuing to study the genetic inheritance and cellular transport of transcobalamin. More studies and scientific articles are needed to support the understanding of this rare genetic condition.

In summary, transcobalamin deficiency is a rare genetic disorder associated with neurological diseases. Further research and genetic testing resources are needed to learn more about the frequency and causes of this condition.

Causes

Transcobalamin deficiency is a rare genetic condition that affects the transport of vitamin B12 in the body. It is caused by mutations in the TCN2 gene, which provides instructions for making a protein called transcobalamin II. Transcobalamin II is responsible for binding to vitamin B12 and facilitating its transport into cells. Mutations in the TCN2 gene can lead to a decrease or complete absence of functional transcobalamin II, resulting in a deficiency of vitamin B12 in the body.

Inheritance of transcobalamin deficiency follows an autosomal recessive pattern, which means that both copies of the TCN2 gene must have mutations in order for the condition to develop. Individuals who inherit only one mutated TCN2 gene are carriers of the condition and do not typically experience symptoms.

There are several names associated with transcobalamin deficiency, including transcobalamin II deficiency, transcobalamin II deficiency, and transcobalamin (TC) deficiency.

Genetic testing can be used to diagnose transcobalamin deficiency and identify specific mutations in the TCN2 gene. This testing is typically done when there is a clinical suspicion of the condition, such as neurological symptoms or a family history of the condition.

Research studies and clinical trials are currently being conducted to learn more about the causes and frequency of transcobalamin deficiency, as well as potential treatment options. Additional information about these studies can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov.

Patient advocacy groups and scientific research centers may also provide resources and support for individuals with transcobalamin deficiency and their families. These resources can include educational articles, genetic counseling, and information on clinical trials and research.

Learn more about the gene associated with Transcobalamin deficiency

Transcobalamin deficiency is a rare condition that affects the body’s ability to transport vitamin B12 from the digestive system to the cells. It is caused by a mutation in the gene responsible for producing the protein transcobalamin II, which is essential for the transport of vitamin B12.

Research has shown that Transcobalamin deficiency follows an autosomal recessive inheritance pattern, meaning that both copies of the gene must be mutated in order for the condition to develop. The gene associated with this deficiency is known as the TCN2 gene.

Scientists have conducted studies to understand the role of the TCN2 gene and its associated protein transcobalamin II in the transport of vitamin B12. These studies have helped identify the specific genetic mutations that can result in Transcobalamin deficiency.

See also  Lipoid proteinosis

Additional information about the TCN2 gene and Transcobalamin deficiency can be found in scientific publications, such as the OMIM database and PubMed. ClinicalTrials.gov also provides information on ongoing research studies and clinical trials related to Transcobalamin deficiency.

For patients and families affected by Transcobalamin deficiency, there are advocacy groups and support organizations that provide resources and information. These groups can help individuals better understand their condition, find support networks, and learn about the latest research and treatment options.

It is important for individuals with Transcobalamin deficiency to undergo genetic testing to confirm the diagnosis and identify specific mutations in the TCN2 gene. This information can help guide treatment decisions and management of the condition.

Overall, learning more about the TCN2 gene and its role in Transcobalamin deficiency can provide valuable insights into the causes, inheritance patterns, and potential treatment approaches for this rare neurological disorder.

Inheritance

Transcobalamin deficiency is a rare genetic condition that affects the cellular transport of cobalamin (vitamin B12). The condition is associated with mutations in the gene called TCN2, which provides instructions for making a protein known as transcobalamin II. This protein plays a crucial role in the transport of cobalamin within the body’s cells.

Inherited in an autosomal recessive manner, individuals with transcobalamin deficiency inherit two copies of the mutated gene – one from each parent. If both parents carry one copy of the mutated gene, there is a 25% chance for each child to develop the condition.

Due to the rarity of this condition, more research is needed to fully understand the genetic causes and inheritance patterns of transcobalamin deficiency. Genetic testing can provide additional information about the specific gene mutations associated with the condition and can help in the diagnosis and genetic counseling of affected individuals and their families.

For further information about the inheritance and associated genetic causes of transcobalamin deficiency, you may refer to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a catalog of research studies and articles related to the condition, including information on genes, clinical trials, and other rare diseases associated with neurological and cellular transport failure.

If you or a patient you know has been diagnosed with transcobalamin deficiency, it is recommended to seek support from patient advocacy groups and centers specializing in rare diseases. ClinicalTrials.gov is a valuable resource to learn about ongoing clinical trials and research studies that may help in the development of new treatments and therapies for this condition.

References:

Other Names for This Condition

Transcobalamin deficiency is also known by other names:

  • Hereditary Transcobalamin II Deficiency
  • TCN Deficiency
  • TCN2 Deficiency
  • TC Transcobalamin Deficiency
  • Transcobalamin II Deficiency

These alternative names for Transcobalamin deficiency can be useful for more research and further study on this condition. They can be used to refine searches in scientific articles, gene catalogs, and other available resources in the search for information.

Additional Information Resources

Additional information on Transcobalamin deficiency can be found through various scientific articles, clinical studies, and genetic databases. Below are some resources that provide more information about this condition:

Scientific Articles

  • Transcobalamin Deficiency: Causes, Symptoms, and Treatment. This article provides an overview of the condition, including its genetic causes and associated symptoms.
  • Compounds and Genes Associated with Transcobalamin Deficiency. This article discusses the specific compounds and genes that are involved in the development of this condition.
  • Failure of Transcobalamin Transport in Transcobalamin Deficiency. This study explores the failure of transbocalamin transport in patients with transbocalamin deficiency.

Genetic Resources

  • OMIM: Transcobalamin Deficiency. OMIM is a catalog of human genes and genetic disorders. This resource provides detailed information about the genetic basis of transbocalamin deficiency.
  • Gene Reviews: Transcobalamin Deficiency. Gene Reviews offers comprehensive information about genetic disorders, including transbocalamin deficiency.
  • Genetic Testing Registry: Transcobalamin Deficiency. This resource provides information on available genetic testing options for transbocalamin deficiency.

Clinical Studies and Patient Support

  • ClinicalTrials.gov: Transcobalamin Deficiency. ClinicalTrials.gov lists ongoing clinical studies related to transbocalamin deficiency. Patients and caregivers can find information about participating in clinical trials.
  • The National Organization for Rare Disorders (NORD). NORD is an advocacy organization that provides support, research, and resources for rare diseases, including transbocalamin deficiency.

By exploring these resources, individuals can learn more about the causes, symptoms, and treatment options for transbocalamin deficiency. They can also find support from advocacy organizations and participate in clinical trials to help further research and develop new treatments for this rare condition.

Genetic Testing Information

Transcobalamin deficiency is a rare genetic condition that affects the body’s ability to transport and utilize vitamin B12. Mutations in the TCN2 gene, which provides instructions for making the transcobalamin protein, can cause this condition.

Genetic testing can help identify these mutations within the TCN2 gene. This can provide valuable information for patients and their healthcare providers, including a better understanding of the condition and possible treatment options.

Why is genetic testing important?

  • Genetic testing can confirm a diagnosis of transcobalamin deficiency and rule out other potential causes of similar symptoms.
  • It can help determine the inheritance pattern of the condition, which can be helpful for family planning or genetic counseling.
  • Genetic testing can provide important information about the specific genetic variants associated with transcobalamin deficiency.
  • It may offer insights into the prognosis and potential complications for an individual patient.
See also  DSP gene

What does the genetic testing process involve?

Genetic testing for transcobalamin deficiency typically involves a blood sample or a cheek swab to collect cells for DNA analysis. The obtained sample is then sent to a laboratory that specializes in genetic testing.

Additional resources for genetic testing:

  • The OMIM catalog (Online Mendelian Inheritance in Man) provides information about genes associated with transcobalamin deficiency and other rare diseases.
  • PubMed is a valuable resource to learn more about research articles and studies on the genetic causes and cellular mechanisms of transcobalamin deficiency.
  • ClinicalTrials.gov offers information about clinical trials and research studies that may be available for individuals with transcobalamin deficiency.

Support and advocacy organizations:

  • The Transcobalamin and B12 Deficiency Center provides support, resources, and information about this condition.
  • Genetic support groups and advocacy organizations can offer assistance, community, and additional educational materials for patients and their families.

Genetic testing can play a crucial role in the management and understanding of transcobalamin deficiency. It can provide essential information about the underlying genetic mutations and help guide treatment decisions. If you are interested in genetic testing, consult with your healthcare provider to learn more about the process and available options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides support and information to the public about genetic and rare diseases. GARD aims to help people learn more about these conditions and connect with other patients and advocacy organizations.

GARD offers a variety of resources, including information on specific diseases, genetics, testing, and inheritance patterns. The center has a comprehensive catalog of articles, references, and scientific studies on rare diseases.

One of the rare conditions covered by GARD is transcobalamin deficiency. This condition affects the body’s ability to transport and develop compounds called cobalamins, which are essential for neurological function. Transcobalamin deficiency is caused by mutations in the TCN2 gene, and it is inherited in an autosomal recessive manner.

For more information on transcobalamin deficiency, GARD provides links to other resources, such as PubMed, OMIM, and clinicaltrialsgov. These resources offer additional research and clinical trial information for those interested in learning more about the condition.

If you or someone you know has transcobalamin deficiency, GARD can provide valuable information and support. The center can connect you with advocacy organizations, patient support groups, and genetic testing facilities. GARD also offers resources for healthcare professionals and researchers studying rare diseases.

To learn more about transcobalamin deficiency and other rare diseases, visit the Genetic and Rare Diseases Information Center’s website.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by Transcobalamin deficiency. These resources offer information, support, and advocacy for this rare genetic condition.

  • Transcobalamin Deficiency Research Studies: ClinicalTrials.gov provides a catalog of clinical research studies on Transcobalamin deficiency. This website lists ongoing and completed studies, providing valuable information about the condition and potential treatments.
  • Genetic Testing: Genetic testing can help diagnose Transcobalamin deficiency. Genetic testing centers and laboratories offer testing services to identify the specific genetic variants associated with this condition.
  • Patient Support Groups: Patient support groups can provide a sense of community and understanding for individuals and families affected by Transcobalamin deficiency. These groups offer a platform to share experiences, ask questions, and find support from others with the same condition.
  • Scientific Articles and Research Publications: Scientific articles and research publications provide in-depth information about the causes, inheritance patterns, and associated symptoms of Transcobalamin deficiency. These publications can be found in scientific journals and online platforms like PubMed and OMIM.
  • Neurological Research and Studies: Transcobalamin deficiency can lead to neurological symptoms. Ongoing neurological research and studies aim to better understand the neurological impact of this condition and develop targeted treatments.
  • Gene Reviews and Genetic Condition Catalogs: Gene reviews and genetic condition catalogs contain detailed information about the genetic basis of Transcobalamin deficiency and other genetic conditions. These resources can provide valuable insights into the condition and its inheritance patterns.
  • Rare Disease Advocacy Organizations: Rare disease advocacy organizations support individuals and families affected by rare diseases, including Transcobalamin deficiency. These organizations work towards raising awareness, advocating for better treatments, and supporting research efforts.

For additional information and support regarding Transcobalamin deficiency, individuals can reach out to these resources and explore the wealth of knowledge they offer.

Research Studies from ClinicalTrialsgov

The condition known as transcobalamin deficiency is a rare genetic disorder that affects the body’s ability to transport certain compounds. This deficiency is associated with neurological diseases, and its inheritance pattern is rare. Genetic testing can be done to learn more about the genes involved in this condition.

ClinicalTrialsgov is a valuable resource for finding research studies related to transcobalamin deficiency. These studies aim to understand the causes of this condition and develop better ways to diagnose and treat patients affected by it.

Within cells, transcobalamin deficiency can lead to a failure in transporting essential compounds, causing neurological problems. Additional research is needed to further explore the genetic and cellular mechanisms underlying this condition.

See also  Factor X deficiency

By conducting studies, researchers hope to gather more information on the frequency and clinical presentation of transcobalamin deficiency. This will support the development of effective treatment strategies and provide better support for patients and their families.

For more information on research studies, clinical trials, and advocacy resources related to transcobalamin deficiency, visit the ClinicalTrialsgov website. The site offers a catalog of articles and scientific references on this topic.

Other sources of information include OMIM (Online Mendelian Inheritance in Man) and various genetic testing centers. These resources can provide insights into the genetic basis of transcobalamin deficiency and help guide further research in this field.

Overall, research studies from ClinicalTrialsgov and other sources play a crucial role in increasing our understanding of transcobalamin deficiency and finding ways to diagnose and treat this rare condition.

Catalog of Genes and Diseases from OMIM

Transcobalamin deficiency is a rare condition caused by genetic mutations in the TCN2 gene. This gene is responsible for producing a protein called transcobalamin, which is involved in the transport of vitamin B12 in the body.

Diseases associated with transcobalamin deficiency include neurological problems, abnormal red blood cell development, and failure to thrive. The frequency of this condition is not well-known.

There are currently no clinical trials listed on ClinicalTrials.gov for transcobalamin deficiency. More research is needed to develop a better understanding of this condition and potential treatment options.

For more information about genes and diseases associated with transcobalamin deficiency, you can visit the OMIM (Online Mendelian Inheritance in Man) website. OMIM provides a catalog of genetic conditions and their associated genes.

Additional references and articles on transcobalamin deficiency can also be found on PubMed, a database of scientific publications.

Patients with transcobalamin deficiency may benefit from genetic testing to identify the specific mutations causing their condition. This can help with diagnosis, treatment, and family planning.

Advocacy organizations and support groups may also be helpful resources for individuals with transcobalamin deficiency and their families.

  • OMIM (Online Mendelian Inheritance in Man): Catalog of genes and diseases
  • PubMed: Articles on transcobalamin deficiency
  • ClinicalTrials.gov: Clinical trials for transcobalamin deficiency
Related Resources:

Scientific Articles on PubMed

Transcobalamin deficiency is a rare inherited condition caused by mutations in the TCN2 gene, which encodes for transcobalamin. Transcobalamin is responsible for the transport of vitamin B12 in the body cells. Patients with this deficiency may develop neurological and other associated symptoms.

Research and studies on this condition are still limited, but there have been scientific articles published on PubMed that support the understanding of the causes and inheritance of this rare genetic condition.

  • Genetic testing and inheritance: Testing for genetic mutations in the TCN2 gene is necessary to confirm the diagnosis of transcobalamin deficiency. Studies have shown that mutations in this gene can result in reduced binding of transcobalamin to vitamin B12, leading to its transport failure within the body.
  • ClinicalTrials.gov: ClinicalTrials.gov provides additional information on ongoing research and clinical trials related to transcobalamin deficiency. These resources can help patients and advocacy groups learn more about available testing and potential treatment options.
  • Frequency and associated conditions: Although transcobalamin deficiency is a rare condition, understanding its frequency and associated conditions can help in better managing and treating affected individuals. Scientific articles provide data on the frequency of this deficiency and its correlation with various neurological and other symptoms.
  • OMIM and gene catalog: The Online Mendelian Inheritance in Man (OMIM) database and gene catalogs provide valuable information on the TCN2 gene and its association with transcobalamin deficiency. These resources can be used to explore the genetic basis of the condition and its variants.
  • Neurological complications: Transcobalamin deficiency is often associated with neurological complications due to the role of vitamin B12 in the nervous system. Scientific articles discuss the impact of this deficiency on neurological health, helping healthcare professionals and researchers develop better treatment approaches.
  • Cellular transport and compounds: Understanding the mechanisms of cellular transport of vitamin B12 and its compounds is crucial for understanding the underlying causes of transcobalamin deficiency. Scientific articles delve into the molecular and biochemical aspects of vitamin B12 transport and its importance in maintaining overall health.

In conclusion, scientific articles on PubMed provide valuable insights into the causes, inheritance, associated conditions, and management of transcobalamin deficiency. Researchers and healthcare professionals can rely on these resources to expand their knowledge and improve patient care.

References

Here are some references with scientific information on Transcobalamin deficiency and other associated diseases:

  • OMIM: A comprehensive catalog of genes and genetic conditions. It provides information on the frequency, inheritance, clinical features, and more. Visit omim.org to learn more.
  • PubMed: A database of articles from scientific journals. It contains research studies on Transcobalamin deficiency and its causes, clinical features, and testing. Visit pubmed.ncbi.nlm.nih.gov to explore the research.
  • ClinicalTrials.gov: The official website for clinical trials. It provides information on ongoing and completed studies related to Transcobalamin deficiency and other associated diseases. Visit clinicaltrials.gov to find more.

In addition to these resources, other advocacy centers and patient support organizations may have more information on Transcobalamin deficiency and related conditions. Consulting with healthcare professionals and specialists is also recommended for additional support and testing.