CDAI
MCID: CNG045
MIFTS: 41

Congenital Dyserythropoietic Anemia Type I (CDAI) malady

Blood category

Summaries for Congenital Dyserythropoietic Anemia Type I

Sources:
43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 thalassemia and deficiency anemia. 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 skin, liver and spleen.

Description from OMIM:47 224120

GeneReviews summary for cda1

Aliases & Classifications for Congenital Dyserythropoietic Anemia Type I

Sources:
61UMLS, 19GeneReviews, 43NIH Rare Diseases, 49Orphanet, 45Novoseek, 20GeneTests, 22GTR, 47OMIM, 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 type 1:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

congenital dyserythropoietic anemia type i 19
type i congenital dyserythropoietic anemia 43 20 22
congenital dyserythropoietic anemia type 1 43 49
cda i 43 45
carbohydrate-deficient glycoprotein syndromes 19
anemia, congenital dyserythropoietic, type i 47
anemia, dyserythropoietic, congenital type 1 43
dyserythropoietic anemia, congenital type 1 43
congenital dyserythropoietic anemia, type i 61
congenital dyserythropoietic anemia 61
cdg syndromes 19
cda type 1 49
cdai 49


External Ids:

OMIM47 224120
ICD10 via Orphanet26 D64.4
SNOMED-CT via Orphanet58 59548005
UMLS via Orphanet62 C0271933

Related Diseases for Congenital Dyserythropoietic Anemia Type I

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1thalassemia30.7HBB, HAMP
2deficiency anemia30.5GDF15, HAMP, CDAN1, HBB
3hemochromatosis30.5HAMP, HBB
4congenital dyserythropoietic anemia11.1
5congenital dyserythropoietic anemia type 310.7
6congenital dyserythropoietic anemia type iv10.7
7majeed syndrome10.6
8congenital dyserythropoietic anemia type 210.6
9char syndrome10.5
10n syndrome10.5
11micro syndrome10.5
12hydrops fetalis10.4
13olivopontocerebellar atrophy10.4
14cerebellar hypoplasia10.4
15congenital disorder of glycosylation, type iii10.4
16gilbert syndrome10.4
17beta thalassemia10.4
18chronic recurrent multifocal osteomyelitis10.4
19thrombocytopenia, x-linked, with or without dyserythropoietic anemia10.4
20irritable bowel syndrome10.3
21alcohol abuse10.2
22brachydactyly10.2
23west syndrome10.2
24hypoglycemia10.2
25hyperinsulinemic hypoglycemia10.2
26autosomal recessive disease10.2
27brain disease10.2
28short syndrome10.2
29congenital disorder of glycosylation type 1i10.2
30congenital disorder of glycosylation type i/iix10.2
31cerebral palsy, spastic quadriplegic, 210.2
32cataract, congenital10.2
33gout10.2
34dyskeratosis congenita10.2
35piebaldism10.2
36pulmonary alveolar proteinosis10.2
37priapism10.2
38dubin-johnson syndrome10.2
39aplastic anemia10.2
40t-cell leukemia10.2
41corneal dystrophy avellino type10.2
42cd4 deficiency10.2
43congenital pulmonary alveolar proteinosis10.2
44ectodermal dysplasia10.2
45splenomegaly10.2
46hematopoietic stem cell transplantation10.2
47crohn's disease10.2
48congenital disorder of glycosylation, type iik10.2
49congenital disorder of glycosylation, type im10.2
50congenital disorder of glycosylation, type iih10.2

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

Sources:
47OMIM
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Clinical features from OMIM:

224120

Clinical synopsis from OMIM:

224120

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia Type I

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

Search CenterWatch for Congenital Dyserythropoietic Anemia Type I

Drug clinical trials:

Search ClinicalTrials for Congenital Dyserythropoietic Anemia Type I

Search NIH Clinical Center for Congenital Dyserythropoietic Anemia Type I

Search CenterWatch for Congenital Dyserythropoietic Anemia Type I

Genetic Tests for Congenital Dyserythropoietic Anemia Type I

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia Type I:

33
Skin, Liver, Spleen, Heart

Animal Models for Congenital Dyserythropoietic Anemia Type I or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Dyserythropoietic Anemia Type I

Sources:
51PubMed
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Articles related to Congenital Dyserythropoietic Anemia Type I:

(show all 22)
idTitleAuthorsYear
1
A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level. (22504250)
2012
2
E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. (21252497)
2011
3
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. (20941788)
2010
4
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
5
Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. (16767397)
2006
6
A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis. (16521204)
2006
7
Successful treatment of iron overload with phlebotomies in two siblings with congenital dyserythropoietic anemia--type II (CDA-II). (17117609)
2006
8
Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child. (16020112)
2005
9
Interferon therapy in congenital dyserythropoietic anemia type I/II. (15804998)
2005
10
Excess of Pappenheimer bodies (siderocytes) in two splenectomized siblings with congenital dyserythropoietic anemia--type II (CDA-II) and iron overload. (15568737)
2004
11
Ineffective erythropoiesis underlies the clinical heterogeneity of congenital dyserythropoietic anemia type II (CDA II). (15151542)
2004
12
Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b. (12218603)
2002
13
Possible oxidative stress involvement in congenital dyserythropoietic anemia type 1. (11920245)
2001
14
Localization of the gene for congenital dyserythropoietic anemia type I to a &lt;1-cM interval on chromosome 15q15.1-15.3. (9545404)
1998
15
Successful treatment of iron overload by phlebotomies in a patient with severe congenital dyserythropoietic anemia type II. (9108433)
1997
16
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. (8634422)
1996
17
Congenital dyserythropoietic anemia type II diagnosed in a 69-year-old patient with iron overload. (1485605)
1992
18
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. (2217175)
1990
19
Isolation and characterization of poly-N-acetyllactosaminylceramides accumulated in the erythrocytes of congenital dyserythropoietic anemia type II patients. (3829205)
1986
20
Paravertebral extramedullary hematopoiesis associated with improvement of anemia in congenital dyserythropoietic anemia type II. (3717146)
1986
21
Congenital dyserythropoietic anemia, type II (Hempas). First five reported cases in Italy. (4451733)
1974
22
Congenital dyserythropoietic anemia type I. Report of a case with increased erythrocyte agglutinability by anti-i serum. (4843203)
1974

Genetic Variations for Congenital Dyserythropoietic Anemia Type I

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Dyserythropoietic Anemia Type I:

63
id Symbol AA change Variation 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

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

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

Pathways for genes affiliated with Congenital Dyserythropoietic Anemia Type I

Compounds for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate459.9HBB, GYPE
2iron45 249.8GDF15, HBB, CDAN1, GYPE, HAMP

GO Terms for genes affiliated with Congenital Dyserythropoietic Anemia Type I

Sources:
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

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