CDA
MCID: CNG003
MIFTS: 43

Congenital Dyserythropoietic Anemia (CDA) malady

Genetic diseases, Rare diseases, Blood diseases, Metabolic diseases categories
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Summaries for Congenital Dyserythropoietic Anemia

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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 based summary: Congenital Dyserythropoietic Anemia, also known as anemia, dyserythropoietic, congenital, is related to dyserythropoietic anemia, congenital, type ib and congenital dyserythropoietic anemia type i. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (codanin 1). Affiliated tissues include skin, bone 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:65 Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is... more...

Descriptions from OMIM:46 224100,613673,105600,224120

Aliases & Classifications for Congenital Dyserythropoietic Anemia

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Congenital Dyserythropoietic Anemia, Aliases & Descriptions:

Name: Congenital Dyserythropoietic Anemia 8 42 21 10 62
Anemia, Dyserythropoietic, Congenital 21
Congenital Dyshaematopoietic Anaemia 8
Dyserythropoietic Anemia, Congenital 42
 
Anemia, Congenital Dyshematopoietic 8
Anemia Dyserythropoietic Congenital 44
Cda, Nos 62
Cda 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Blood diseases


External Ids:

Disease Ontology8 DOID:1338
NCIt39 C84646
SNOMED-CT57 52951008, 191272005
MeSH34 D000742

Related Diseases for Congenital Dyserythropoietic Anemia

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Diseases in the Congenital Dyserythropoietic Anemia Type 2 family:

congenital dyserythropoietic anemia Congenital Dyserythropoietic Anemia Type I
Congenital Dyserythropoietic Anemia Type 3 Congenital Dyserythropoietic Anemia Type Iv
Dyserythropoietic Anemia, Congenital, Type Ib Dyserythropoietic Anemia, Congenital, Type Ia

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1dyserythropoietic anemia, congenital, type ib31.1CDAN1
2congenital dyserythropoietic anemia type i11.0
3congenital dyserythropoietic anemia type iv10.7
4congenital dyserythropoietic anemia type 210.7
5congenital dyserythropoietic anemia type 310.7
6majeed syndrome10.6
7thalassemia10.5
8hemochromatosis10.5
9hydrops fetalis10.5
10thrombocytopenia, x-linked, with or without dyserythropoietic anemia10.5
11hematopoietic stem cell transplantation10.4
12hypertension10.4
13pulmonary hypertension10.4
14beta thalassemia10.4
15osteomyelitis10.4
16chronic recurrent multifocal osteomyelitis10.4
17ectodermal dysplasia10.2
18hemolytic anemia10.2
19leukemia10.2
20dyskeratosis congenita10.2
21gout10.2
22priapism10.2
23pulmonary alveolar proteinosis10.2
24dubin-johnson syndrome10.2
25piebaldism10.2
26congenital hemolytic anemia10.2
27hairy cell leukemia10.2
28mediastinitis10.2
29corneal dystrophy avellino type10.2
30splenomegaly10.2
31dyserythropoietic anemia, congenital, type ia10.2
32xeroderma pigmentosum, group d10.1
33acute myeloid leukemia10.0
34chronic lymphocytic leukemia10.0
35hepatocellular carcinoma10.0
36neutropenia10.0
37hereditary spherocytosis10.0
38angioid streaks10.0
39herpes simplex10.0
40lung cancer10.0
41myeloid leukemia10.0
42deficiency anemia9.9CDAN1, KLF1, SEC23B

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



Diseases related to congenital dyserythropoietic anemia

Symptoms for Congenital Dyserythropoietic Anemia

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Clinical features from OMIM:

224100,613673,105600,224120

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

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Drug clinical trials:

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Genetic Tests for Congenital Dyserythropoietic Anemia

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Anatomical Context for Congenital Dyserythropoietic Anemia

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MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

32
Skin, Bone, Bone marrow, Testes, Spleen

Animal Models for Congenital Dyserythropoietic Anemia or affiliated genes

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Publications for Congenital Dyserythropoietic Anemia

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Articles related to Congenital Dyserythropoietic Anemia:

(show top 50)    (show all 172)
idTitleAuthorsYear
1
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. (25044164)
2014
2
A novel variant mutation for congenital dyserythropoietic anemia, type II. (24801741)
2014
3
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. (23935019)
2013
4
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. (23570799)
2013
5
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. (20941788)
2010
6
The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. (20421275)
2010
7
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (19561605)
2009
8
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. (19621418)
2009
9
Remission from transfusion-dependence in a patient with congenital dyserythropoietic anemia (CDA) and increased intensity of iron chelation. (19606459)
2009
10
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. (19336738)
2009
11
A new type of transfusion-dependent congenital dyserythropoietic anemia. (18024378)
2007
12
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. (17339199)
2007
13
Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. (16767397)
2006
14
Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child. (16020112)
2005
15
Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. (15278299)
2004
16
Excess of Pappenheimer bodies (siderocytes) in two splenectomized siblings with congenital dyserythropoietic anemia--type II (CDA-II) and iron overload. (15568737)
2004
17
A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. (15543010)
2004
18
Sleep disruption and objective sleepiness in children with beta-thalassemia and congenital dyserythropoietic anemia. (12742882)
2003
19
Congenital dyserythropoietic anemia: clinical and hematological profile. (12824665)
2003
20
Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. (12070051)
2002
21
A case of congenital dyserythropoietic anemia type II, Gilbert's syndrome and malleolar trophic ulcers. (12243985)
2002
22
Priapism in a 15-year-old boy with congenital dyserythropoietic anemia type II (hereditary erythroblastic multinuclearity with positive acidified serum lysis test). (11743348)
2002
23
New sporadic case of congenital dyserythropoietic anemia type III in an aged woman: detailed description of ultrastructural findings. (11994986)
2002
24
Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality. (11764104)
2001
25
Possible oxidative stress involvement in congenital dyserythropoietic anemia type 1. (11920245)
2001
26
Congenital dyserythropoietic anemia type III. (10897128)
2000
27
Congenital dyserythropoietic anemia type III associated with congenital atrioseptal defect has led to severe cardiac problems in a 32-year-old patient. (10911387)
2000
28
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). (10753261)
2000
29
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. (11071669)
2000
30
Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated. (11310976)
2000
31
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. (9345103)
1997
32
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. (8639805)
1996
33
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. (8634422)
1996
34
Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia. (7521883)
1994
35
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
36
A case of congenital dyserythropoietic anemia type II associated with hemochromatosis. (1611191)
1992
37
An aberrant type of congenital dyserythropoietic anemia associated with a beta-thalassemia trait. (2049466)
1991
38
Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia. (1951301)
1991
39
Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. (1858788)
1991
40
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. (2809904)
1989
41
Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: association of low level of membrane-bound form of galactosyltransferase. (2495036)
1989
42
A case of congenital dyserythropoietic anemia in a male Chinese. (3725428)
1986
43
Transient anti-D in an Rh-positive patient with congenital dyserythropoietic anemia type II. (6324425)
1984
44
Type I congenital dyserythropoietic anemia (CDA I): ultrastructural findings. (6404705)
1983
45
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. (7078263)
1982
46
An unusual type of congenital dyserythropoietic anemia with thalassemia features. (750539)
1978
47
Ultrastructural studies in a particular case of congenital dyserythropoietic anemia (CDA). (4757883)
1973
48
Congenital dyserythropoietic anemia, type II: report of two cases and a review of the literature. (4636452)
1972
49
Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow. (5008922)
1972
50
Congenital dyserythropoietic anemia type II. Ultrastructure of erythroid cells and hepatocytes. (4333076)
1972

Variations for Congenital Dyserythropoietic Anemia

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Expression for genes affiliated with Congenital Dyserythropoietic Anemia

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Expression patterns in normal tissues for genes affiliated with Congenital Dyserythropoietic Anemia

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Pathways for genes affiliated with Congenital Dyserythropoietic Anemia

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Compounds for genes affiliated with Congenital Dyserythropoietic Anemia

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GO Terms for genes affiliated with Congenital Dyserythropoietic Anemia

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Biological processes related to Congenital Dyserythropoietic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide cross-linkingGO:0181499.1EPB42, TGM5
2erythrocyte maturationGO:0432498.8KLF1, EPB42

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

idNameGO IDScoreTop Affiliating Genes
1protein-glutamine gamma-glutamyltransferase activityGO:0038109.1EPB42, TGM5

Products for genes affiliated with Congenital Dyserythropoietic Anemia

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Sources for Congenital Dyserythropoietic Anemia

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3CDC
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25ICD10
26ICD10 via Orphanet
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28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
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51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
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