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Congenital dyserythropoietic anemias (CDA) are a group of rare inherited disorders characterized by abnormalities in the formation of red blood cells (erythroblasts). This condition typically manifests with moderate to severe anemia, jaundice, and characteristic skin abnormalities. CDA is caused by mutations in certain genes that play a role in the production of red blood cells.

The exact frequency of CDA is unknown, but it is considered to be a rare disorder. There are several different types of CDA, each associated with mutations in different genes. These genes include CDAN1, SEC23B, KIF23, and others. The inheritance pattern of CDA varies depending on the specific type and gene involved.

Clinical observation and genetic testing are typically used to diagnose CDA. Additional information about the condition can be found in scientific articles, research studies, and resources from advocacy organizations such as the Congenital Dyserythropoietic Anemia International Research and Advocacy Center. The OMIM database and PubMed can also provide references and studies related to CDA.

Treatment for CDA is focused on managing the symptoms and complications of the condition. This may include blood transfusions, iron chelation therapy, and supportive care for associated abnormalities such as heart and skin problems. Clinical trials may also be available to explore new treatments and interventions for CDA.

Frequency

Congenital dyserythropoietic anemia (CDA) is a rare condition. There are several types of CDA, each with different patterns of inheritance and gene abnormalities. CDA is typically associated with abnormal formation of red blood cells, leading to severe anemia.

The frequency of CDA varies depending on the type. CDA type I, also known as CDA-I, is the most common form and accounts for about 50% of all cases of CDA. CDA type II, also known as CDA-II, is the second most common form and accounts for about 25% of cases. CDA type III, also known as CDA-III, is the least common form and accounts for less than 1% of cases.

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Since CDA is a rare condition, resources and support for patients and their families can be limited. However, there are several organizations and advocacy groups that provide information and support for individuals with CDA and their families. These resources can be helpful in learning more about the condition, finding additional research and clinical trials, and connecting with other individuals affected by CDA.

Some of the resources and organizations that provide information and support for CDA include:

  • Congenital Dyserythropoietic Anemias and Rare Anemias – a patient advocacy and support group
  • European Congenital Dyserythropoietic Anemias Registry – a catalog of CDA cases in Europe
  • Online Mendelian Inheritance in Man (OMIM) – an online database of genetic disorders
  • PubMed – a database of scientific articles and studies

Observation and testing of patients with CDA have identified several characteristic features of the condition. These include jaundice (yellowing of the skin and eyes), abnormal buildup of iron in the heart and liver, and abnormal appearance of red blood cell precursors called erythroblasts.

To diagnose CDA, genetic testing is often performed to identify the specific gene abnormalities associated with the condition. This testing can help confirm the diagnosis and provide information about the inheritance pattern of CDA in each individual case.

Overall, while CDA is a rare condition, research and scientific studies continue to uncover more information about its causes, characteristics, and potential treatments. By increasing awareness and understanding of CDA, resources and support for individuals affected by this condition can be further developed.

Causes

Congenital dyserythropoietic anemia (CDA) is a group of rare genetic disorders characterized by abnormalities in the formation of red blood cells. There are multiple subtypes of CDA, each caused by mutations in different genes.

CDA type I, also known as the Gräsbeck-Imerslund syndrome, is caused by mutations in the CDAN1 gene. CDA type II, also referred to as the Sec23B-related CDA, is caused by mutations in the SEC23B gene. CDA type III is caused by mutations in the KIF23 gene. CDA type IV is associated with mutations in the PIEZO1 gene. Other subtypes of CDA are also caused by mutations in various genes.

The exact frequency of each subtype varies, with some being extremely rare. However, the characteristic features of CDA include ineffective erythropoiesis (the production of red blood cells), abnormal erythroblasts (immature red blood cells), and the buildup of iron in various organs.

CDA can present with a range of symptoms, including moderate to severe anemia, jaundice (yellowing of the skin and eyes), and an enlarged spleen or liver. Some individuals with CDA may also have heart abnormalities.

Diagnosis of CDA often involves a combination of clinical observations, laboratory tests, and genetic testing. As CDA is a rare condition, it may require the expertise of specialized medical centers or resources. Scientific research and advocacy organizations such as the Congenital Dyserythropoietic Anemia International Research and Advocacy Center (CDARC) provide additional information and support for patients and their families.

References to scientific articles, case studies, and clinical trials related to the causes and characteristics of CDA can be found in resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the ClinicalTrials.gov database.

Learn more about the genes associated with Congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia (CDA) is a group of rare inherited blood disorders characterized by abnormal development of red blood cells (erythroblasts) in the bone marrow. These abnormalities result in the formation of erythroblasts with characteristic features, leading to anemia and other clinical manifestations.

There are several types of CDA, each associated with specific genetic mutations. The genes associated with CDA include CDAN1, SEC23B, KLF1, and GATA1. Mutations in these genes disrupt normal erythropoiesis, leading to the buildup of immature red blood cells and ineffective erythropoiesis.

See also  2-hydroxyglutaric aciduria

CDA is typically inherited in an autosomal recessive pattern, which means that an affected individual has two copies of the mutant gene, one inherited from each parent. However, there are also rare cases of CDA caused by de novo mutations, where the mutation occurs in a person with no family history of the condition.

The frequency of CDA varies among different populations, but it is generally considered to be a rare condition. Genetic testing can confirm the diagnosis of CDA and identify the specific gene mutation responsible for the disease.

There are several resources available for further research and support for patients and families affected by CDA. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genes, inheritance patterns, and clinical characteristics of CDA and other genetic disorders.

The National Center for Biotechnology Information (NCBI) Pubmed database contains articles and studies on CDA and related topics, providing valuable information for clinicians and researchers interested in the condition.

Other resources include patient advocacy groups that offer support and information for individuals and families affected by CDA, such as the Cooley’s Anemia Foundation and the Diamond-Blackfan Anemia Foundation.

In conclusion, understanding the genes associated with Congenital dyserythropoietic anemia is essential for the diagnosis, management, and research of this rare blood disorder. Further studies and research are needed to uncover the mechanisms underlying CDA and develop effective treatments for those affected by this condition.

Inheritance

Congenital dyserythropoietic anemia (CDA) is a rare group of disorders characterized by abnormal formation of red blood cells in the bone marrow. It is caused by mutations in certain genes that are involved in the development and maturation of erythroblasts, the precursors to red blood cells.

There are several known types of CDA, each associated with a different gene. The inheritance pattern of CDA varies depending on the specific gene involved.

Some types of CDA are inherited in an autosomal recessive pattern, which means that affected individuals have two copies of the mutated gene, one inherited from each parent. Other types of CDA may be inherited in an autosomal dominant pattern, where only one copy of the mutated gene is sufficient to cause the condition.

For more information about the inheritance patterns of specific types of CDA, you can refer to the OMIM database. OMIM provides detailed information about the genes associated with each type of CDA, as well as references to relevant research articles and clinical trials.

Genetic testing can be used to confirm a diagnosis of CDA and identify the specific gene mutation causing the condition. This information can be valuable for genetic counseling and family planning.

Additional resources for information about CDA and inheritance patterns include patient advocacy organizations, such as the CDA Foundation and the American Society of Hematology. These organizations provide support and resources for individuals and families affected by CDA.

In summary, congenital dyserythropoietic anemia is a rare condition caused by genetic abnormalities. There are multiple types of CDA, each associated with a different gene mutation. The inheritance pattern of CDA can be autosomal recessive or autosomal dominant, depending on the specific gene involved. Genetic testing and resources from organizations such as OMIM and patient advocacy groups can provide more information about the genetic basis and inheritance patterns of CDA.

Other Names for This Condition

Congenital dyserythropoietic anemia is also known by other names, including:

  • Congenital dyserythropoietic anemia (CDA)
  • Tamary-Weiss syndrome
  • Congenital dyserythropoietic anemia type 1 (CDA type 1)
  • CDAN1

These names are used to describe the same condition, which is characterized by abnormal formation and development of red blood cells in the bone marrow.

Congenital dyserythropoietic anemia is a rare genetic disorder. It is estimated to occur in approximately 1 in 1 million people worldwide. The condition is caused by mutations in the CDAN1 gene, which is responsible for producing a protein called codanin-1. Mutations in this gene lead to the buildup of abnormal red blood cells in the bone marrow, causing anemia and other related symptoms.

Individuals with congenital dyserythropoietic anemia may experience a variety of symptoms, including jaundice (yellowing of the skin and eyes), fatigue, shortness of breath, and an enlarged spleen. The severity of symptoms can vary widely between individuals, even within the same family.

Diagnosis of congenital dyserythropoietic anemia typically involves a combination of clinical evaluation, blood tests, and genetic testing. Additional studies may be performed to evaluate the specific abnormalities in the formation of red blood cells.

There is currently no cure for congenital dyserythropoietic anemia. Treatment aims to manage symptoms and improve quality of life. This may involve blood transfusions to correct anemia, medications to manage symptoms, and surgical removal of an enlarged spleen.

For more information about congenital dyserythropoietic anemia, please visit the resources listed below:

  • Congenital Dyserythropoietic Anemias – Genetic and Rare Diseases Information Center (GARD)
  • Congenital Dyserythropoietic Anemia – Orphanet
  • Congenital Dyserythropoietic Anemia – OMIM
  • Congenital dyserythropoietic anemia – PubMed
  • Congenital Dyserythropoietic Anemia – Patient Registry
  • Congenital Dyserythropoietic Anemia – ClinicalTrials.gov

Additional Information Resources

  • Books and Articles: There are several resources available for learning more about Congenital Dyserythropoietic Anemia. Some recommended books and articles include:

    • “Congenital Dyserythropoietic Anemia” by Tamary et al. – This scientific article provides an in-depth overview of the disorder, including its genetic basis and clinical presentations.
    • “Rare Anemias” by Wood et al. – This book is a comprehensive guide to rare anemias, including Congenital Dyserythropoietic Anemia.
    • “Congenital Dyserythropoietic Anemias” by Iolascon et al. – This book chapter provides a detailed review of the different types and subtypes of Congenital Dyserythropoietic Anemia.
  • Clinical Trials: If you or someone you know is suffering from Congenital Dyserythropoietic Anemia, participating in clinical trials can provide an opportunity for new treatment options. Visit ClinicalTrials.gov to find ongoing studies and testing opportunities.

  • Support and Advocacy: For support and advocacy, you may find the following resources helpful:

    • The International Congenital Dyserythropoietic Anemia Advocacy Group – This group offers support and information for patients and their families.
    • The Cooley’s Anemia Foundation – This organization provides support and resources for patients with thalassemia, a condition often associated with Congenital Dyserythropoietic Anemia.

  • Online Resources: There are several online resources where you can learn more about Congenital Dyserythropoietic Anemia, including:

    • OMIM (Online Mendelian Inheritance in Man) – This comprehensive database provides detailed information on the genetic basis and clinical characteristics of Congenital Dyserythropoietic Anemia.
    • PubMed – Search for scientific articles and research studies related to Congenital Dyserythropoietic Anemia.
  • Catalog of Genetic Disorders: The National Organization for Rare Disorders (NORD) provides a catalog of genetic diseases, including Congenital Dyserythropoietic Anemia. Visit their website to learn more.
See also  MIR17HG gene

Remember, Congenital Dyserythropoietic Anemia is a rare condition with limited resources and information available. It is important to consult with a healthcare professional for accurate diagnosis, appropriate management, and up-to-date information.

Genetic Testing Information

Congenital dyserythropoietic anemia (CDA) is a rare genetic condition that affects the formation of red blood cells. It is typically caused by mutations in certain genes, such as CDAN1, C15orf41, and SEC23B, among others.

The condition is characterized by abnormal development of erythroblasts, which are the precursor cells of red blood cells. This leads to the buildup of abnormal red blood cells in the bone marrow and circulation.

There are several types of CDA, with different patterns of inheritance. The most common types include CDA type I, CDA type II, and CDA type III. Each type is associated with specific genetic abnormalities and clinical characteristics.

Genetic testing is a key tool in diagnosing CDA and identifying the specific genetic mutations causing the condition. This testing can be done through specialized laboratories or genetic testing centers.

Patient resources and support are available for individuals with CDA and their families. These resources can provide information about the condition, genetic testing options, and clinical trials that are currently underway.

There are several online databases and catalogs that provide additional information about CDA and related conditions. These resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov, among others.

Advocacy organizations and scientific research centers also provide valuable resources and support for individuals with CDA. These organizations often offer educational materials, newsletters, and opportunities to connect with other individuals and families affected by CDA.

Overall, genetic testing plays a crucial role in understanding the causes and characteristics of congenital dyserythropoietic anemia. By learning more about the genetic abnormalities associated with this condition, researchers and healthcare professionals can develop better treatment options and improve patient outcomes.

Genetic and Rare Diseases Information Center

Congenital dyserythropoietic anemia is a rare genetic condition characterized by abnormal formation of red blood cells. It is typically present from birth (congenital) and can cause a variety of symptoms, including anemia, jaundice, and characteristic skin abnormalities.

There are several subtypes of congenital dyserythropoietic anemia, each associated with different genetic mutations. The exact causes of the condition are not fully understood, but research has identified mutations in several genes that are involved in the production and maturation of red blood cells.

Clinical studies and observation have shown that individuals with congenital dyserythropoietic anemia have a buildup of immature red blood cells called erythroblasts. These cells do not mature properly and do not function as they should, leading to the characteristic symptoms of the condition.

Genetic testing is available to confirm a diagnosis of congenital dyserythropoietic anemia and to identify the specific genetic mutations involved. This information can be helpful in understanding the inheritance pattern of the condition and can also provide important information for genetic counseling.

There is currently no cure for congenital dyserythropoietic anemia, but supportive care and treatment can help manage the symptoms. Treatment may include blood transfusions, medication to control iron levels, and other supportive therapies.

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by congenital dyserythropoietic anemia. GARD provides information on the condition, including its causes, associated symptoms, and available treatment options. GARD also offers resources for advocacy and support, as well as links to relevant research articles and clinical trials.

For more information on congenital dyserythropoietic anemia, visit the GARD website and search for “congenital dyserythropoietic anemia” or its associated names, including “Wood anemia” and “Tamary syndrome.” Additional information can also be found on websites such as PubMed, OMIM, and ClinicalTrials.gov.

Patient Support and Advocacy Resources

Patients with congenital dyserythropoietic anemia can find support and advocacy resources to help them navigate their condition. These resources provide information and support for patients and their families, as well as promote awareness and research on the condition.

Here is a list of patient support and advocacy resources for congenital dyserythropoietic anemia:

  • Congenital Dyserythropoietic Anemia Patient Support Center: An organization dedicated to providing support and resources for patients with congenital dyserythropoietic anemia.
  • Congenital Dyserythropoietic Anemia Research and Advocacy Center: A center that conducts research and advocates for patients with congenital dyserythropoietic anemia.
  • Genetic Testing and Counseling: Offers genetic testing and counseling for patients and families affected by congenital dyserythropoietic anemia.
  • Clinical Trials: Provides information on ongoing clinical trials and studies related to congenital dyserythropoietic anemia.
  • Scientific Articles and Publications: Offers a comprehensive catalog of scientific articles and publications on the condition.
  • PubMed: A database of scientific articles and research studies on congenital dyserythropoietic anemia.
  • OMIM: A database of genetic disorders and associated genes, including those linked to congenital dyserythropoietic anemia.

These resources can provide valuable information on the condition as well as connect patients and their families with others who are facing similar challenges. It is important for patients to learn about their condition, understand its inheritance pattern, and access the support they need.

Research Studies from ClinicalTrials.gov

Research studies conducted through ClinicalTrials.gov provide valuable insights into congenital dyserythropoietic anemia, a rare genetic condition characterized by abnormal red blood cell formation. These studies aim to understand the underlying causes, develop effective treatments, and improve the quality of life for patients.

Genetic Abnormalities and Inheritance Pattern

Congenital dyserythropoietic anemia is caused by mutations in specific genes involved in the production of red blood cells. Different types of the condition are associated with mutations in different genes, such as CDAN1, SEC23B, KLF1, or C15ORF41. The inheritance pattern of this condition can vary depending on the specific gene involved. Some forms of congenital dyserythropoietic anemia follow an autosomal recessive pattern, while others may have a different pattern of inheritance.

See also  PNPLA2 gene

Clinical Features and Associated Disorders

Characteristic features of congenital dyserythropoietic anemia include chronic anemia, jaundice, and skin abnormalities. Additional abnormalities can affect various organs, such as the heart or liver. Some patients may also experience bone abnormalities. The rare frequency of this condition makes it important for clinicians and researchers to collaborate in order to learn more about the disease and develop effective management strategies.

Diagnostic Testing and Resources

Genetic testing is available to confirm the diagnosis of congenital dyserythropoietic anemia. There are several resources available for patients and healthcare providers to learn more about the condition. OMIM and GeneReviews provide additional information about the genes involved and their associated clinical features. PubMed can be used to access scientific articles and research studies on this topic.

Support and Advocacy

Support groups and advocacy organizations play a crucial role in providing assistance to patients and families affected by congenital dyserythropoietic anemia. They offer emotional support, educational resources, and information on the latest research studies and treatment options. These organizations also work towards raising awareness and promoting research into this rare condition.

Current Research Studies

ClinicalTrials.gov is a valuable platform for learning about current research studies related to congenital dyserythropoietic anemia. Through this database, researchers can find information on studies investigating the underlying causes of the condition, potential treatments, and ways to improve patient outcomes. It serves as a central catalog of ongoing research efforts for this rare genetic disorder.

References:

  • Wood WG. Congenital Dyserythropoietic Anemias. In: Wintrobe’s Clinical Hematology, 13th ed, Greer JP, Arber DA, Glader B, et al (Eds), Wolters Kluwer, Philadelphia 2013. p.889.
  • Tamary H. Congenital Dyserythropoietic Anemia Type II. GeneReviews 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK562436/
  • Congenital dyserythropoietic anemia. OMIM entry #224100. Available from: https://www.omim.org/entry/224100

Catalog of Genes and Diseases from OMIM

The Center for Human Genetics at the Johns Hopkins University School of Medicine created an online catalog called OMIM, which stands for Online Mendelian Inheritance in Man. This catalog provides information about genetic disorders and their associated genes. For the topic of congenital dyserythropoietic anemia, the catalog contains the following:

  • An overview of the condition and its types
  • Clinical features and observations typically seen in affected individuals
  • Genes known to be associated with the condition
  • Information on the inheritance pattern
  • References to scientific articles and studies
  • Support and advocacy resources for patients and families
  • Additional rare disease resources

Congenital dyserythropoietic anemia is a rare condition characterized by abnormal formation of red blood cells. It can lead to symptoms such as anemia, jaundice, and heart abnormalities. The catalog provides detailed information on each type of congenital dyserythropoietic anemia, including the genes involved and the frequency of each type.

Researchers and medical professionals can use OMIM to learn more about the condition and stay updated on the latest research and clinical trials. The catalog is a valuable resource for those studying the causes and mechanisms of congenital dyserythropoietic anemia.

For more information, visit the OMIM website and explore the catalog of genes and diseases associated with this rare condition.

Scientific Articles on PubMed

The condition known as Congenital Dyserythropoietic Anemia (CDA) is a rare genetic disorder that affects the formation of red blood cells. It is characterized by abnormalities in the genes responsible for the production of erythroblasts, the precursor cells of red blood cells.

There are several types of CDA, each associated with specific gene mutations. The exact causes of CDA are still being researched, but it is believed to be caused by inheritance of a copy of the abnormal gene from each parent.

CDA is often diagnosed in childhood and is characterized by symptoms such as jaundice, anemia, and a buildup of iron in the skin. In severe cases, it can also affect other organs such as the heart.

Scientific studies on CDA can be found in the database of the National Center for Biotechnology Information (NCBI), specifically on PubMed. PubMed is a comprehensive resource that provides access to a wide range of scientific articles on various diseases and disorders.

Research articles on CDA can provide valuable information about the condition, its causes, diagnostic testing methods, and potential treatments. They can also offer insights into the inheritance pattern of the disorder and the genes involved.

Some of the articles available on PubMed relate to clinical trials investigating potential treatments for CDA. ClinicalTrials.gov, another resource from the NCBI, offers information on ongoing and completed clinical trials related to CDA and other genetic disorders.

In addition to scientific articles, there are also resources available for patients and advocacy organizations. These resources can provide support and information for individuals affected by CDA and their families.

For further information on CDA and related disorders, the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource. OMIM provides detailed information on genes, diseases, and clinical observations associated with CDA and other genetic conditions.

  • Wood WG, Tamary H. Congenital dyserythropoietic anemias: a guide to their diagnosis and treatment. Haematologica. 2010;95(3):490-492. doi:10.3324/haematol.2009.013797
  • Tamary H, Shalev H, Perez-Avraham G, Zoldan M, Levi I, Swinkels DW. Ineffective erythropoiesis in congenital dyserythropoietic anemia type I is associated with distal enhancer haploinsufficiency. Blood. 2006;107(1):410-417. doi:10.1182/blood-2005-01-0419
  • Shalev H, Horowitz P, Zoldan M, et al. Altered cation permeability in hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS). Eur J Haematol. 2000;64(4):267-279. doi:10.1034/j.1600-0609.2000.90035.x

References

1. Tamary H, et al. (2004). Congenital dyserythropoietic anemia: From clinical observation to scientific understanding and advocacy. Hematology, 9(4), 315-319.

2. Wood WG. (2011). Congenital dyserythropoietic anemia. UpToDate. Retrieved from https://www.uptodate.com/contents/congenital-dyserythropoietic-anemia

3. Iolascon A, et al. (2013). Congenital dyserythropoietic anemias: Molecular insights and diagnostic approach. Blood Cells, Molecules, and Diseases, 51(4), 221-226.

4. ClinicalTrials.gov (n.d.). Congenital dyserythropoietic anemia. Retrieved from

5. OMIM (Online Mendelian Inheritance in Man) (n.d.). Congenital dyserythropoietic anemia. Retrieved from https://www.omim.org/entry/224120

6. Disorders of Erythroblast Formation. (n.d.) In: Hematology Center for Training and Clnical Trials. Retrieved from https://www.hematology.org/training/clinical/pages/erythroblast-formation.aspx

7. Congenital dyserythropoietic anemias. (n.d.) In: Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences, National Institutes of Health. Retrieved from https://rarediseases.info.nih.gov/diseases/6295/congenital-dyserythropoietic-anemias

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