CDA
MCID: CNG003
MIFTS: 41

Congenital Dyserythropoietic Anemia (CDA) malady

Blood category

Summaries for Congenital Dyserythropoietic Anemia

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.

MalaCards: Congenital Dyserythropoietic Anemia, also known as CDA, is related to congenital dyserythropoietic anemia type i and thalassemia. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (codanin 1). The compounds 23-diphosphoglycerate and iron have been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and bone marrow.

Disease Ontology:8 A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (rbcs) in the body and a less than normal quantity of hemoglobin in the blood.

Wikipedia:64 Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is... more...

Description from OMIM:47 224100,105600,224120,613673

Aliases & Classifications for Congenital Dyserythropoietic Anemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 47OMIM, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
congenital dyserythropoietic anemia:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

congenital dyserythropoietic anemia 8 43 21 10 49 61
cda 21 49
anemia, dyserythropoietic, congenital 21
congenital dyshaematopoietic anaemia 8
dyserythropoietic anemia, congenital 43
anemia, congenital dyshematopoietic 8
anemia dyserythropoietic congenital 45


External Ids:

Disease Ontology8 DOID:1338
MeSH35 D000742
NCIt40 C84646
SNOMED-CT57 52951008, 191272005
MESH via Orphanet36 D000742
ICD10 via Orphanet26 D64.4
SNOMED-CT via Orphanet58 52951008
UMLS via Orphanet62 C0002876

Related Diseases for Congenital Dyserythropoietic Anemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Congenital Dyserythropoietic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1congenital dyserythropoietic anemia type i31.4CDAN1
2thalassemia30.7HBB, HAMP, KLF1
3hemochromatosis30.7HBB, HAMP
4deficiency anemia30.5SEC23B, GDF15, HBB, CDAN1, HAMP, KLF1
5beta thalassemia30.5HBB, KLF1
6congenital dyserythropoietic anemia type 310.7
7congenital dyserythropoietic anemia type iv10.7
8majeed syndrome10.6
9congenital dyserythropoietic anemia type 210.6
10hydrops fetalis10.4
11gilbert syndrome10.4
12chronic recurrent multifocal osteomyelitis10.4
13thrombocytopenia, x-linked, with or without dyserythropoietic anemia10.4
14acute leukemia10.2
15gout10.2
16dyskeratosis congenita10.2
17piebaldism10.2
18pulmonary alveolar proteinosis10.2
19priapism10.2
20dubin-johnson syndrome10.2
21aplastic anemia10.2
22t-cell leukemia10.2
23corneal dystrophy avellino type10.2
24cd4 deficiency10.2
25congenital pulmonary alveolar proteinosis10.2
26ectodermal dysplasia10.2
27splenomegaly10.2
28hematopoietic stem cell transplantation10.2
29acute myeloid leukemia10.2
30systemic lupus erythematosus10.1
31down syndrome10.1
32adenocarcinoma10.1
33arthritis10.1
34b-cell lymphomas10.1
35xeroderma pigmentosum, group d10.1
36hereditary persistence of fetal hemoglobin10.0KLF1
37sickle cell disease10.0GYPE, HBB
38hemoglobinopathy10.0HBB, KLF1
39siderosis10.0SEC23B
40acute erythroid leukemia10.0HBB, GYPE, KLF1
41angioid streaks9.9
42xeroderma pigmentosum9.9
43hereditary spherocytosis9.9
44diffuse large b-cell lymphoma9.9
45tuberculosis9.9
46myelodysplastic syndromes9.9
47leukopenia9.9
48endotheliitis9.9

Graphical network of the top 20 diseases related to Congenital Dyserythropoietic Anemia:



Diseases related to congenital dyserythropoietic anemia

Clinical Features for Congenital Dyserythropoietic Anemia

Sources:
47OMIM
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Clinical features from OMIM:

224100,105600,224120,613673

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Dyserythropoietic Anemia

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Genetic Tests for Congenital Dyserythropoietic Anemia

Anatomical Context for Congenital Dyserythropoietic Anemia

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33MalaCards
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MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

33
Skin, Spleen, Bone marrow, B cells

Animal Models for Congenital Dyserythropoietic Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Dyserythropoietic Anemia

Sources:
51PubMed
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Articles related to Congenital Dyserythropoietic Anemia:

(show top 50)    (show all 172)
idTitleAuthorsYear
1
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. (24420417)
2014
2
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. (23935019)
2013
3
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (23716552)
2013
4
Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report. (22953144)
2012
5
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1-alpha localization in erythroblasts. (21364188)
2011
6
Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship. (20442439)
2010
7
Remission from transfusion-dependence in a patient with congenital dyserythropoietic anemia (CDA) and increased intensity of iron chelation. (19606459)
2009
8
Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia. (19333601)
2009
9
Tophaceous gout with congenital dyserythropoietic anemia. (19902585)
2009
10
Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? (19150496)
2009
11
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. (18824595)
2008
12
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene. (18575862)
2008
13
A new type of transfusion-dependent congenital dyserythropoietic anemia. (18024378)
2007
14
Congenital dyserythropoietic anemia type II - a case report of two siblings in a family. (23100929)
2007
15
A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis. (16521204)
2006
16
Interferon therapy in congenital dyserythropoietic anemia type I/II. (15804998)
2005
17
Acute parvovirus B19 infection mimicking congenital dyserythropoietic anemia. (14767207)
2004
18
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (12434312)
2002
19
Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b. (12218603)
2002
20
Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. (12068798)
2002
21
Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality. (11764104)
2001
22
On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. (10969284)
2000
23
Erythropoiesis: Case Report: Congenital Dyserythropoietic Anemia Type II in a Woman Presenting with Jaundice, Anemia, and Splenomegaly. (11399576)
1999
24
Genetic heterogeneity of congenital dyserythropoietic anemia type I. (10454800)
1999
25
No response to recombinant human erythropoietin therapy in patients with congenital dyserythropoietic anemia type I. (10100277)
1999
26
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. (9345103)
1997
27
Neonatal manifestations of congenital dyserythropoietic anemia type I. (9255198)
1997
28
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. (7711721)
1995
29
New variant of congenital dyserythropoietic anemia with trilineage myelodysplasia. (7484009)
1995
30
A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. (7507739)
1994
31
Congenital dyserythropoietic anemia type III with unbalanced globin chain synthesis. (8005239)
1994
32
Congenital dyserythropoietic anemia type II diagnosed in a 69-year-old patient with iron overload. (1485605)
1992
33
An aberrant type of congenital dyserythropoietic anemia associated with a beta-thalassemia trait. (2049466)
1991
34
Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. (1858788)
1991
35
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. (2809904)
1989
36
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. (2953718)
1987
37
Congenital dyserythropoietic anemia type I: report of a pair of siblings. (3096054)
1986
38
Abnormal fatty acid composition of erythrocyte glycosphingolipids in congenital dyserythropoietic anemia type II. (4009062)
1985
39
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. (7078263)
1982
40
A case of variant congenital dyserythropoietic anemia revisited. (7112028)
1982
41
Proteolytic dissection of band 3 protein from human erythrocyte in congenital dyserythropoietic anemia type II. (7312435)
1981
42
Congenital dyserythropoietic anemia type I: report of a pair of siblings in Japan. (476312)
1979
43
Abnormal lipid composition of the red cell membrane in congenital dyserythropoietic anemia type II (HEMPAS). (1141728)
1975
44
Congenital dyserythropoietic anemia, type II (Hempas). First five reported cases in Italy. (4451733)
1974
45
Ultrastructural studies in a particular case of congenital dyserythropoietic anemia (CDA). (4757883)
1973
46
Congenital dyserythropoietic anemia, type II: report of two cases and a review of the literature. (4636452)
1972
47
Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow. (5008922)
1972
48
Congenital dyserythropoietic anemia type II. Ultrastructure of erythroid cells and hepatocytes. (4333076)
1972
49
Electron and light microscopic study of the erythroblasts of patients with congenital dyserythropoietic anemia. (5542151)
1971
50
Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. (5658197)
1968

Genetic Variations for Congenital Dyserythropoietic Anemia

Expression for genes affiliated with Congenital Dyserythropoietic Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Dyserythropoietic Anemia

Search GEO for disease gene expression data for Congenital Dyserythropoietic Anemia.

Pathways for genes affiliated with Congenital Dyserythropoietic Anemia

Compounds for genes affiliated with Congenital Dyserythropoietic Anemia

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45Novoseek, 24HMDB
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Compounds related to Congenital Dyserythropoietic Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate4510.3HBB, GYPE
2iron45 2410.7GDF15, HBB, CDAN1, GYPE, HAMP

GO Terms for genes affiliated with Congenital Dyserythropoietic Anemia

Sources:
16Gene Ontology
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Biological processes related to Congenital Dyserythropoietic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide cross-linkingGO:01814910.3TGM5, EPB42
2erythrocyte maturationGO:04324910.0EPB42, KLF1

Molecular functions related to Congenital Dyserythropoietic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein-glutamine gamma-glutamyltransferase activityGO:00381010.3TGM5, EPB42

Products for genes affiliated with Congenital Dyserythropoietic Anemia

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Sources for Congenital Dyserythropoietic Anemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet