MCID: CNG045
MIFTS: 50

Congenital Dyserythropoietic Anemia Type I malady

Blood diseases category

Summaries for Congenital Dyserythropoietic Anemia Type I

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42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 gene. it is inherited in an autosomal recessive pattern. last updated: 5/23/2012

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

Description from OMIM:46 615631,224120

GeneReviews summary for cda1

Aliases & Classifications for Congenital Dyserythropoietic Anemia Type I

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60UMLS, 19GeneReviews, 48Orphanet, 46OMIM, 42NIH Rare Diseases, 44Novoseek, 20GeneTests, 22GTR, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital dyserythropoietic anemia type i:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

congenital dyserythropoietic anemia type i 19 48 46
type i congenital dyserythropoietic anemia 42 20 22
cda i 42 44 48
congenital dyserythropoietic anemia type 1 42 48
anemia, dyserythropoietic, congenital type 1 42
anemia, congenital dyserythropoietic, type i 46
dyserythropoietic anemia, congenital type 1 42
congenital dyserythropoietic anemia, type i 60
congenital dyserythropoietic anemia 60
cda type i 48
cda type 1 48


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ICD10 via Orphanet26 D64.4
SNOMED-CT via Orphanet57 59548005
UMLS via Orphanet61 C0271933

Related Diseases for Congenital Dyserythropoietic Anemia Type I

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Congenital Dyserythropoietic Anemia Type I:



Diseases related to congenital dyserythropoietic anemia type i

Clinical Features for Congenital Dyserythropoietic Anemia Type I

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46OMIM
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Clinical features from OMIM:

615631,224120

Clinical synopsis from OMIM:

224120

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia Type I

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Dyserythropoietic Anemia Type I

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20GeneTests, 22GTR
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Genetic tests related to Congenital Dyserythropoietic Anemia Type I:

id Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia Type I20 CDAN1
2 Congenital Dyserythropoietic Anemia, Type I22

Anatomical Context for Congenital Dyserythropoietic Anemia Type I

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32MalaCards
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MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia Type I:

32
Heart, Bone, Skin, Liver, Eye, Spleen

Animal Models for Congenital Dyserythropoietic Anemia Type I or affiliated genes

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Publications for Congenital Dyserythropoietic Anemia Type I

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50PubMed
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Articles related to Congenital Dyserythropoietic Anemia Type I:

(show all 41)
idTitleAuthorsYear
1
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. (24420417)
2014
2
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (23716552)
2013
3
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. (23095116)
2013
4
Congenital dyserythropoietic anemia type I. (20012793)
2010
5
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. (19336738)
2009
6
Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II. (19407313)
2009
7
Pregnancy outcome in congenital dyserythropoietic anemia type I. (18573172)
2008
8
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. (18824595)
2008
9
Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. (16767397)
2006
10
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (16754775)
2006
11
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. (16141353)
2006
12
Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child. (16020112)
2005
13
Interferon therapy in congenital dyserythropoietic anemia type I/II. (15804998)
2005
14
Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in a cohort of French children. (16096522)
2005
15
A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. (15543010)
2004
16
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (12434312)
2002
17
Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. (12180113)
2002
18
Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. (12068798)
2002
19
Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated. (11310976)
2000
20
Congenital dyserythropoietic anemia type I with ringed sideroblasts. (10841325)
2000
21
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn. (10753260)
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 &lt;1-cM interval on chromosome 15q15.1-15.3. (9545404)
1998
25
Neonatal manifestations of congenital dyserythropoietic anemia type I. (9255198)
1997
26
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. (8634422)
1996
27
Congenital Dyserythropoietic Anemia Type I (20301759)
1993
28
Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. (1858788)
1991
29
Congenital dyserythropoietic anemia type I: report of a pair of siblings. (3096054)
1986
30
Type I congenital dyserythropoietic anemia (CDA I): ultrastructural findings. (6404705)
1983
31
Congenital dyserythropoietic anemia type I: a freeze-fracture and thin section electron microscopic study. (6850102)
1983
32
Transmission and scanning electron microscopy study on congenital dyserythropoietic anemia type I. (6414210)
1983
33
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. (7078263)
1982
34
Congenital dyserythropoietic anemia type I. Report of a case. (7214028)
1981
35
Congenital dyserythropoietic anemia type I: report of a pair of siblings in Japan. (476312)
1979
36
Congenital dyserythropoietic anemia with ultrastructural features of type I and II. (1191780)
1975
37
Congenital dyserythropoietic anemia with ultrastructure findings compatible with both types I and II. (4213835)
1974
38
Congenital dyserythropoietic anemia (CDA), type I. Light and electron microscopy, erythroblastic proliferation, erythrokinetic and cytogenetic studies in one case. (4219002)
1974
39
Congenital dyserythropoietic anemia type I. Report of a case with increased erythrocyte agglutinability by anti-i serum. (4843203)
1974
40
DNA , histone-, RNA-, hemoglobin-content and DNA synthesis in erythroblasts in a case of congenital dyserythropoietic anemia type I. (4110250)
1972
41
Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II. (4996567)
1971

Genetic Variations for Congenital Dyserythropoietic Anemia Type I

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Dyserythropoietic Anemia Type I:

62
id Symbol AA change Variation ID SNP ID
1CDAN1p.Asn599SerVAR_017218
2CDAN1p.Pro672LeuVAR_017219
3CDAN1p.Glu698LysVAR_017220
4CDAN1p.Arg714TrpVAR_017221rs80338696
5CDAN1p.Phe868IleVAR_017222
6CDAN1p.Val869MetVAR_017223
7CDAN1p.Arg1042TrpVAR_017224
8CDAN1p.Asp1043ValVAR_017225
9CDAN1p.Pro1130LeuVAR_017226

Expression for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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

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Pathways for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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Compounds for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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44Novoseek, 24HMDB
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Compounds related to Congenital Dyserythropoietic Anemia Type I according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate449.9HBB, GYPE
2iron44 249.8GDF15, HBB, CDAN1, GYPE, HAMP

GO Terms for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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

idNameGO IDScoreTop Affiliating Genes
1peptide cross-linkingGO:01814910.0TGM5, EPB42

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

idNameGO IDScoreTop Affiliating Genes
1protein-glutamine gamma-glutamyltransferase activityGO:00381010.0TGM5, EPB42

Products for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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Sources for Congenital Dyserythropoietic Anemia Type I

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3CDC
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14FMA
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
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44Novoseek
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50PubMed
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57SNOMED-CT via Orphanet
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