CDA
MCID: CNG003
MIFTS: 44

Congenital Dyserythropoietic Anemia (CDA) malady

Blood diseases category

Summaries for Congenital Dyserythropoietic Anemia

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 hemochromatosis. 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, 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:63 Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is... more...

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

Aliases & Classifications for Congenital Dyserythropoietic Anemia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 60UMLS, 44Novoseek, 34MeSH, 46OMIM, 56SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 10 48 60
cda 21 48
anemia, dyserythropoietic, congenital 21
dyserythropoietic anemia, congenital 42
congenital dyshaematopoietic anaemia 8
anemia, congenital dyshematopoietic 8
anemia dyserythropoietic congenital 44


External Ids:

Disease Ontology8 DOID:1338
MeSH34 D000742
NCIt39 C84646
SNOMED-CT56 52951008, 191272005
MESH via Orphanet35 D000742
ICD10 via Orphanet26 D64.4
SNOMED-CT via Orphanet57 52951008
UMLS via Orphanet61 C0002876

Related Diseases for Congenital Dyserythropoietic Anemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Dyserythropoietic Anemia Type I family:

congenital dyserythropoietic anemia Congenital Dyserythropoietic Anemia Type 2
Congenital Dyserythropoietic Anemia Type 3 Congenital Dyserythropoietic Anemia Type Iv

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1congenital dyserythropoietic anemia type i31.5CDAN1
2hemochromatosis30.7HBB, HAMP
3deficiency anemia30.4KLF1, HAMP, CDAN1, HBB, GDF15, SEC23B
4beta thalassemia30.4HBB, KLF1
5congenital dyserythropoietic anemia type iv10.7
6congenital dyserythropoietic anemia type 310.6
7congenital dyserythropoietic anemia type 210.6
8majeed syndrome10.6
9thalassemia10.5
10thrombocytopenia, x-linked, with or without dyserythropoietic anemia10.4
11congenital hemolytic anemia10.3
12hemolytic anemia10.3
13hypertension10.3
14neonatal anemia10.3
15osteomyelitis10.3
16sideroblastic anemia10.3
17acute leukemia10.2
18childhood leukemia10.2
19gout10.2
20dyskeratosis congenita10.2
21piebaldism10.2
22pulmonary alveolar proteinosis10.2
23priapism10.2
24dubin-johnson syndrome10.2
25aplastic anemia10.2
26chromosomal disease10.2
27hairy cell leukemia10.2
28leukemia10.2
29mediastinitis10.2
30hemochromatosis type 210.2
31corneal dystrophy avellino type10.2
32acute myeloid leukemia10.1
33lung cancer10.1
34lymphoblastic leukemia10.1
35myeloid leukemia10.1
36neutropenia10.1
37systemic lupus erythematosus10.0
38down syndrome10.0
39adenocarcinoma10.0
40arthritis10.0
41chronic lymphocytic leukemia10.0
42esophagitis10.0
43lupus erythematosus10.0
44neuroblastoma10.0
45ovarian cancer10.0
46pancreatic cancer10.0
47pancreatitis10.0
48rheumatoid arthritis10.0
49t-cell leukemia10.0
50b-cell lymphomas10.0

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



Diseases related to congenital dyserythropoietic anemia

Clinical Features for Congenital Dyserythropoietic Anemia

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

224100,105600,224120,613673

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Congenital Dyserythropoietic Anemia

Drug clinical trials:

Search ClinicalTrials for Congenital Dyserythropoietic Anemia

Search NIH Clinical Center for Congenital Dyserythropoietic Anemia

Search CenterWatch for Congenital Dyserythropoietic Anemia

Genetic Tests for Congenital Dyserythropoietic Anemia

About this section

Anatomical Context for Congenital Dyserythropoietic Anemia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

32
Skin, Bone, Bone marrow, Testes, Spleen

Animal Models for Congenital Dyserythropoietic Anemia or affiliated genes

About this section

Publications for Congenital Dyserythropoietic Anemia

About this section
Sources:
50PubMed
See all sources

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50)    (show all 172)
idTitleAuthorsYear
1
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. (23935019)
2013
2
Congenital dyserythropoietic anemia in China: a case report from two families and a review. (24196372)
2013
3
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. (23605369)
2013
4
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. (23453696)
2013
5
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1-alpha localization in erythroblasts. (21364188)
2011
6
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. (21055716)
2010
7
Tophaceous gout with congenital dyserythropoietic anemia. (19902585)
2009
8
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). (18166993)
2008
9
Aplastic crisis as a complication of congenital dyserythropoietic anemia type II. (17127819)
2007
10
A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis. (16521204)
2006
11
Interferon therapy in congenital dyserythropoietic anemia type I/II. (15804998)
2005
12
Acute parvovirus B19 infection mimicking congenital dyserythropoietic anemia. (14767207)
2004
13
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. (12933587)
2003
14
Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. (12070051)
2002
15
A case of congenital dyserythropoietic anemia type II, Gilbert's syndrome and malleolar trophic ulcers. (12243985)
2002
16
Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. (12068798)
2002
17
Possible oxidative stress involvement in congenital dyserythropoietic anemia type 1. (11920245)
2001
18
Natural history of congenital dyserythropoietic anemia type II. (11493480)
2001
19
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). (10753261)
2000
20
Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated. (11310976)
2000
21
Congenital dyserythropoietic anemias. (10698292)
2000
22
Genetic heterogeneity of congenital dyserythropoietic anemia type I. (10454800)
1999
23
No response to recombinant human erythropoietin therapy in patients with congenital dyserythropoietic anemia type I. (10100277)
1999
24
Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3. (9545404)
1998
25
Genetic heterogeneity of congenital dyserythropoietic anemia type II. (9746803)
1998
26
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. (8639805)
1996
27
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. (8634422)
1996
28
Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects. (9009444)
1996
29
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. (7711721)
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
An aberrant type of congenital dyserythropoietic anemia associated with a beta-thalassemia trait. (2049466)
1991
32
Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia. (1951301)
1991
33
Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. (1858788)
1991
34
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. (2217175)
1990
35
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
36
Erythroblast multinuclearity in bone marrow and spleen. Congenital dyserythropoietic anemia-like abnormalities without functional evidence of dyserythropoiesis. (3579510)
1987
37
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. (2953718)
1987
38
Congenital dyserythropoietic anemia, type II (HEMPAS). (3744513)
1986
39
Proliferation kinetics of bone marrow cells in congenital dyserythropoietic anemia type II. (3845819)
1985
40
A case of congenital dyserythropoietic anemia type II (HEMPAS). (4003011)
1985
41
Congenital dyserythropoietic anemia type I: a freeze-fracture and thin section electron microscopic study. (6850102)
1983
42
Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II. (6185913)
1982
43
A family with congenital dyserythropoietic anemia type II (HEMPAS). (7315134)
1981
44
Congenital dyserythropoietic anemia type I. Report of a case. (7214028)
1981
45
Letter: Congenital dyserythropoietic anemia in Jews from Morocco. (4406730)
1974
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
Type II congenital dyserythropoietic anemia. (4340898)
1972
49
Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II. (4996567)
1971
50
Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. (5658197)
1968

Genetic Variations for Congenital Dyserythropoietic Anemia

About this section

Expression for genes affiliated with Congenital Dyserythropoietic Anemia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Congenital Dyserythropoietic Anemia

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Congenital Dyserythropoietic Anemia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate4410.3HBB, GYPE
2iron44 2410.7GDF15, HBB, CDAN1, GYPE, HAMP

GO Terms for genes affiliated with Congenital Dyserythropoietic Anemia

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Dyserythropoietic Anemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet