MCID: CNG003
MIFTS: 38

Congenital Dyserythropoietic Anemia malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Metabolic diseases

Aliases & Classifications for Congenital Dyserythropoietic Anemia

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Aliases & Descriptions for Congenital Dyserythropoietic Anemia:

Name: Congenital Dyserythropoietic Anemia 11 46 24 13 66
Anemia, Dyserythropoietic, Congenital 24 37
Congenital Dyshaematopoietic Anaemia 11
 
Dyserythropoietic Anemia, Congenital 46
Anemia Dyserythropoietic Congenital 48
Cda 24

Classifications:



External Ids:

Disease Ontology11 DOID:1338
ICD1028 D64.4
SNOMED-CT60 191272005, 52951008
MeSH37 D000742
NCIt43 C84646

Summaries for Congenital Dyserythropoietic Anemia

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NIH Rare Diseases:46 Congenital dyserythropoietic anemia is a hereditary condition that affects the production of red blood cells (erythropoiesis) and is characterized by anemia and problems in various organs. the signs and symptoms include fatigue, weakness, pale skin, larger-than-normal liver and spleen, and problems of the heart. there are four major types of the condition. each type has a different cause and the additional signs and symptoms mentioned below. type 1: diabetes and problems in the bones of the fingers and is caused by changes (mutations) in the cdan1 gene type 2: gallbladder stones and milder form of anemia and is caused by mutations in the sec23b gene  type 3: the most severe form of the types. the liver is unaffected, but eye and blood problems (monoclonal gammopathy) are present. the exact cause of this type is currently unknown.  type 4: very severe anemia and is caused by mutations in the klf1 gene.  types 1 and 2 are inherited in an autosomal recessive manner. type 3 appears to be inherited in an autosomal dominant manner. type 4 is inherited in an autosomal dominant manner. treatment may involve the use of a medication called interferon, and a bone marrow transplant. in some cases, the spleen may be removed (splenectomy). last updated: 12/16/2015

MalaCards based summary: Congenital Dyserythropoietic Anemia, also known as anemia, dyserythropoietic, congenital, is related to dyserythropoietic anemia, congenital, type ia and dyserythropoietic anemia, congenital, type ii. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (Codanin 1), and among its related pathways is MHC class II antigen presentation. Affiliated tissues include skin, bone and bone marrow.

Disease Ontology:11 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.

Genetics Home Reference:24 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.

Wikipedia:69 Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is... more...

Related Diseases for Congenital Dyserythropoietic Anemia

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Diseases in the Congenital Dyserythropoietic Anemia family:

Dyserythropoietic Anemia, Congenital, Type Ib Dyserythropoietic Anemia, Congenital, Type Iv
Dyserythropoietic Anemia, Congenital, Type Ia Dyserythropoietic Anemia, Congenital, Type Iii
Dyserythropoietic Anemia, Congenital, Type Ii

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1dyserythropoietic anemia, congenital, type ia11.9
2dyserythropoietic anemia, congenital, type ii11.9
3dyserythropoietic anemia, congenital, type iii11.8
4majeed syndrome11.8
5dyserythropoietic anemia, congenital, type iv11.8
6dyserythropoietic anemia, congenital, type ib11.6
7thrombocytopenia, x-linked, with or without dyserythropoietic anemia11.3
8corneal dystrophy, avellino type11.1
9glomerulosclerosis, focal segmental, 610.3C15orf41, CDAN1
10thalassemia10.3
11hemochromatosis10.2
12vacterl association10.2C15orf41, CDAN1
13hematopoietic stem cell transplantation10.2
14hydrops fetalis10.2
15chronic recurrent multifocal osteomyelitis10.1
16pulmonary hypertension10.1
17osteomyelitis10.1
18childhood malignant mesenchymoma10.1CDAN1, SEC23B
19pyruvate kinase deficiency9.9
20dubin-johnson syndrome9.9
21piebaldism9.9
22ectodermal dysplasia9.9
23hemolytic anemia9.9
24leukemia9.9
25pulmonary alveolar proteinosis9.9
26gout9.9
27dyskeratosis congenita9.9
28hairy cell leukemia9.9
29antiphospholipid syndrome9.9
30cerebritis9.9
31congenital hemolytic anemia9.9
32mediastinitis9.9
33priapism9.9
34fibromuscular dysplasia9.9
35splenomegaly9.9
36dic in newborn9.9KIF23, KLF1
37glucosephosphate dehydrogenase deficiency9.9HAMP, KLF1
38tongue squamous cell carcinoma9.9HAMP, KLF1
39typhus9.6HAMP, LPIN2
40megaloblastic anemia6.7C15orf41, CDAN1, HAMP, KIF23, KLF1, LPIN2

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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Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

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Drugs for Congenital Dyserythropoietic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Proton pump inhibitorsPhase 41057
Synonyms:
 
PPIs
2
OmeprazolePhase 433173590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazole
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
Morecon
NCGC00016925-01
 
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
3
IronPhase 410807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSECNot yet recruitingNCT01795794Phase 4
2GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisNot yet recruitingNCT01201135

Search NIH Clinical Center for Congenital Dyserythropoietic Anemia


Cochrane evidence based reviews: anemia, dyserythropoietic, congenital

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:

34
Skin, Bone, Bone marrow, Spleen, Eye, Liver, Heart

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 187)
idTitleAuthorsYear
1
New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia. (27408412)
2016
2
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. (27548341)
2016
3
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. (27206021)
2016
4
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. (27540014)
2016
5
Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India. (25692053)
2015
6
Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III. (25900788)
2015
7
A novel variant mutation for congenital dyserythropoietic anemia, type II. (24801741)
2014
8
Congenital dyserythropoietic anemia type I: report of a case. (24554823)
2014
9
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 AA a89A G mutation, and pseudo-Gaucher cells in two siblings. (24801240)
2014
10
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. (23935019)
2013
11
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. (23570799)
2013
12
Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. (23522491)
2013
13
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload. (21108711)
2012
14
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
15
The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. (20421275)
2010
16
Congenital dyserythropoietic anemia type I. (20012793)
2010
17
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (19561605)
2009
18
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. (19621418)
2009
19
Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia. (19333601)
2009
20
Tophaceous gout with congenital dyserythropoietic anemia. (19902585)
2009
21
Aplastic crisis as a complication of congenital dyserythropoietic anemia type II. (17127819)
2007
22
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. (16754775)
2006
23
Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child. (16020112)
2005
24
Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. (15278299)
2004
25
Excess of Pappenheimer bodies (siderocytes) in two splenectomized siblings with congenital dyserythropoietic anemia--type II (CDA-II) and iron overload. (15568737)
2004
26
A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. (15543010)
2004
27
Sleep disruption and objective sleepiness in children with beta-thalassemia and congenital dyserythropoietic anemia. (12742882)
2003
28
Congenital dyserythropoietic anemia: clinical and hematological profile. (12824665)
2003
29
Priapism in a 15-year-old boy with congenital dyserythropoietic anemia type II (hereditary erythroblastic multinuclearity with positive acidified serum lysis test). (11743348)
2002
30
New sporadic case of congenital dyserythropoietic anemia type III in an aged woman: detailed description of ultrastructural findings. (11994986)
2002
31
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. (11071669)
2000
32
Genetic heterogeneity of congenital dyserythropoietic anemia type I. (10454800)
1999
33
Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II. (9694508)
1998
34
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. (8639805)
1996
35
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. (8634422)
1996
36
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. (7711721)
1995
37
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
38
Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. (1858788)
1991
39
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. (2809904)
1989
40
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
41
Variant of congenital dyserythropoietic anemia. (3992310)
1985
42
Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2. (3938164)
1985
43
Transient anti-D in an Rh-positive patient with congenital dyserythropoietic anemia type II. (6324425)
1984
44
Congenital dyserythropoietic anemia with ultrastructural features of type I and II. (1191780)
1975
45
Letter: Congenital dyserythropoietic anemia in Jews from Morocco. (4406730)
1974
46
Ultrastructural studies in a particular case of congenital dyserythropoietic anemia (CDA). (4757883)
1973
47
Congenital dyserythropoietic anemia. (4703412)
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
DNA , histone-, RNA-, hemoglobin-content and DNA synthesis in erythroblasts in a case of congenital dyserythropoietic anemia type I. (4110250)
1972

Variations for Congenital Dyserythropoietic Anemia

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Expression for genes affiliated with Congenital Dyserythropoietic Anemia

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

Pathways for genes affiliated with Congenital Dyserythropoietic Anemia

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Pathways related to Congenital Dyserythropoietic Anemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5KIF23, SEC23A

GO Terms for genes affiliated with Congenital Dyserythropoietic Anemia

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Cellular components related to Congenital Dyserythropoietic Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1COPII vesicle coatGO:00301279.7SEC23A, SEC23B

Biological processes related to Congenital Dyserythropoietic Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vesicle-mediated transportGO:00161929.9SEC23A, SEC23B
2antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:00198869.5KIF23, SEC23A

Sources for Congenital Dyserythropoietic Anemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet