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Disease Profile

Congenital dyserythropoietic anemia type 1

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

D64.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CDA I; Dyserythropoietic anemia, congenital type 1; Anemia, dyserythropoietic, congenital type 1;

Categories

Blood Diseases; Congenital and Genetic Diseases

Summary

Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. CDA type I usually results from mutations in the CDAN1 (about 90% of the cases) and C150RF41 genes (about 1% of the cases). In about 9% of the cases no cause can be identified. It is inherited in an autosomal recessive pattern.[1][2] Treatment involves medication such as interferon, and sometimes bone marrow transplant.[3]

Symptoms

Signs and symptoms of congenital dyserythropoietic anemia type 1 (CDA1) commonly become apparent in the newborn period. Symptoms may include:[3] 

  • Anemia: Which is moderate in most cases
  • Jaundice
  • Iron overload (hemochromatosis): Increased iron absorption may result in heart problems such as congestive heart failure and altered heart rhythm (arrhythmia), as well as liver disease (cirrhosis) and diabetes.
  • Splenomegaly and/or hepatomegaly: May be absent in infants or young children, but develop later with age.
  • Gallstones: May be present in some affected people.
  • Skeletal findings: Specifically in the fingers and toes. 
  • Eye problems resulting in poor vision

Some cases begin in childhood or adulthood, and rarely, in the fetal period, where it presents as hydrops fetalis. Other signs and symptoms that have been reported in people with CDA1 include scoliosis and vertebral defects.[3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small nail
Small nails
0001792
Syndactyly
Webbed fingers or toes
0001159
Percent of people who have these symptoms is not available through HPO
Anemia of inadequate production
0010972
Anisocytosis
Unequal size of red blood cells
0011273
Autosomal recessive inheritance
0000007
Endopolyploidy on chromosome studies of bone marrow
0003352
Erythroid hyperplasia
0012132
Hepatomegaly
Enlarged liver
0002240
Hydrops fetalis
0001789
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Macrocytic dyserythropoietic anemia
0005532
Mild postnatal growth retardation
0001530
Pallor
0000980
Poikilocytosis
0004447
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Reduced level of N-acetylglucosaminyltransferase II
0003655
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells

[ more ]

0001923
Splenomegaly
Increased spleen size
0001744

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • Genetics Home Reference (GHR) contains information on Congenital dyserythropoietic anemia type 1. This website is maintained by the National Library of Medicine.

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        Congenital dyserythropoietic anemia type Ia
        Congenital dyserythropoietic anemia type Ib
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital dyserythropoietic anemia type 1. Click on the link to view a sample search on this topic.

        References

        1. Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia.
        2. Congenital Dyserythropoietic Anemia Type I. Orphanet. September, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98869.
        3. Tamary H & Dgany O. Congenital Dyserythropoietic Anemia Type I. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK5313/.

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