MCID: CNG045
MIFTS: 39

Congenital Dyserythropoietic Anemia Type I malady

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

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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 based summary: Congenital Dyserythropoietic Anemia Type I, also known as type i congenital dyserythropoietic anemia, is related to dyserythropoietic anemia, congenital, type ib 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, eye and spleen.

GeneReviews summary for cda1

Aliases & Classifications for Congenital Dyserythropoietic Anemia Type I

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Congenital Dyserythropoietic Anemia Type I, Aliases & Descriptions:

Name: Congenital Dyserythropoietic Anemia Type I 19
Type I Congenital Dyserythropoietic Anemia 42 20 22
Cda I 42 44
Anemia, Dyserythropoietic, Congenital Type 1 42
 
Dyserythropoietic Anemia, Congenital Type 1 42
Congenital Dyserythropoietic Anemia, Type I 62
Congenital Dyserythropoietic Anemia Type 1 42


Classifications:

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


Related Diseases for Congenital Dyserythropoietic Anemia Type I

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Graphical network of diseases related to Congenital Dyserythropoietic Anemia Type I:



Diseases related to congenital dyserythropoietic anemia type i

Symptoms for Congenital Dyserythropoietic Anemia Type I

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Drugs & Therapeutics for Congenital Dyserythropoietic Anemia Type I

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Dyserythropoietic Anemia Type I

Genetic Tests for Congenital Dyserythropoietic Anemia Type I

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

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

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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Articles related to Congenital Dyserythropoietic Anemia Type I:

(show all 36)
idTitleAuthorsYear
1
Congenital dyserythropoietic anemia type I: report of a case. (24554823)
2014
2
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. (24420417)
2014
3
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (23716552)
2013
4
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. (23095116)
2013
5
Congenital dyserythropoietic anemia type I. (20012793)
2010
6
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. (19336738)
2009
7
Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II. (19407313)
2009
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
Neonatal manifestations of congenital dyserythropoietic anemia type I. (9255198)
1997
25
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. (8634422)
1996
26
Congenital Dyserythropoietic Anemia Type I (20301759)
1993
27
Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. (1858788)
1991
28
Congenital dyserythropoietic anemia type I: report of a pair of siblings. (3096054)
1986
29
Congenital dyserythropoietic anemia type I: a freeze-fracture and thin section electron microscopic study. (6850102)
1983
30
Transmission and scanning electron microscopy study on congenital dyserythropoietic anemia type I. (6414210)
1983
31
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. (7078263)
1982
32
Congenital dyserythropoietic anemia type I. Report of a case. (7214028)
1981
33
Congenital dyserythropoietic anemia type I: report of a pair of siblings in Japan. (476312)
1979
34
Congenital dyserythropoietic anemia type I. Report of a case with increased erythrocyte agglutinability by anti-i serum. (4843203)
1974
35
DNA , histone-, RNA-, hemoglobin-content and DNA synthesis in erythroblasts in a case of congenital dyserythropoietic anemia type I. (4110250)
1972
36
Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II. (4996567)
1971

Variations for Congenital Dyserythropoietic Anemia Type I

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Clinvar genetic disease variations for Congenital Dyserythropoietic Anemia Type I:

6
id Gene Name Type Significance SNP ID Assembly Location
1CDAN1NM_138477.2(CDAN1): c.156C> G (p.Phe52Leu)single nucleotide variantPathogenicrs80338694GRCh37Chr 15, 43028913: 43028913
2CDAN1NM_138477.2(CDAN1): c.2140C> T (p.Arg714Trp)single nucleotide variantPathogenicrs80338696GRCh37Chr 15, 43022830: 43022830
3CDAN1NM_138477.2(CDAN1): c.3128A> T (p.Asp1043Val)single nucleotide variantPathogenicrs80338698GRCh37Chr 15, 43018584: 43018584
4CDAN1NM_138477.2(CDAN1): c.3124C> T (p.Arg1042Trp)single nucleotide variantPathogenicrs80338697GRCh37Chr 15, 43018588: 43018588
5CDAN1NM_138477.2(CDAN1): c.3389C> T (p.Pro1130Leu)single nucleotide variantPathogenicrs80338699GRCh37Chr 15, 43017748: 43017748
6CDAN1NM_138477.2(CDAN1): c.1796A> G (p.Asn599Ser)single nucleotide variantPathogenicrs120074166GRCh37Chr 15, 43023473: 43023473
7CDAN1NM_138477.2(CDAN1): c.2012C> T (p.Pro671Leu)single nucleotide variantPathogenicrs80338695GRCh37Chr 15, 43022958: 43022958
8CDAN1NM_138477.2(CDAN1): c.2602T> A (p.Phe868Ile)single nucleotide variantPathogenicrs120074168GRCh37Chr 15, 43021264: 43021264
9CDAN1NM_138477.2(CDAN1): c.1860+5G> Asingle nucleotide variantPathogenicrs113313967GRCh37Chr 15, 43023404: 43023404
10CDAN1NM_138477.2(CDAN1): c.1117_1119delGTT (p.Val373del)deletionPathogenicrs120074169GRCh37Chr 15, 43027315: 43027317

Expression for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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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

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Compounds for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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

idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate449.9GYPE, HBB
2iron44 249.9CDAN1, GYPE, HBB, GDF15, HAMP

GO Terms for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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

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

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

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

Products for genes affiliated with Congenital Dyserythropoietic Anemia Type I

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Dyserythropoietic Anemia Type I

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet