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Disease Profile
Congenital dyserythropoietic anemia type 1
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
CDA I; Dyserythropoietic anemia, congenital type 1; Anemia, dyserythropoietic, congenital type 1;
Categories
Blood Diseases; Congenital and Genetic Diseases
Summary
Symptoms
- 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
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 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Small nail |
Small nails
|
0001792 |
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 |
0000007 | ||
Endopolyploidy on |
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 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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The diagnosis of CDA should be considered following exclusion of other causes of macrocytosis (B12 deficiency, folic acid deficiency or other megaloblastic anemias such as pernicious anemia or thiamine-responsive megaloblastic anemia syndrome; see this term), acquired dyserythropoiesis (myelodysplastic disorders) and hemolytic anemias. Gilbert syndrome (see this term) and infections should be also excluded.
Visit the Orphanet disease page for more information.
|
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
-
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: [email protected]
Website: https://www.enerca.org -
Iron Disorders Institute Inc.
P.O. Box 4891
Greenville, SC 29608
Fax: 864-292-1878
E-mail: [email protected]
Website: https://www.irondisorders.org/
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
- Congenital dyserythropoietic anemia. Genetics Home Reference (GHR). July 2009; https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia.
- Congenital Dyserythropoietic Anemia Type I. Orphanet. September, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98869.
- Tamary H & Dgany O. Congenital Dyserythropoietic Anemia Type I. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK5313/.
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