MCID: CNG003
MIFTS: 39

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 48 25 13 68
Anemia, Dyserythropoietic, Congenital 25 39
Congenital Dyshaematopoietic Anaemia 11
 
Dyserythropoietic Anemia, Congenital 48
Anemia Dyserythropoietic Congenital 50
Cda 25

Classifications:



External Ids:

Disease Ontology11 DOID:1338
ICD1030 D64.4
SNOMED-CT62 191272005, 52951008
MeSH39 D000742
NCIt45 C84646

Summaries for Congenital Dyserythropoietic Anemia

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NIH Rare Diseases:48 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 iii. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (Codanin 1), and among its related pathways are Hematopoietic cell lineage and Vesicle-mediated transport. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotype hematopoietic system.

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:25 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:71 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1dyserythropoietic anemia, congenital, type ia11.9
2dyserythropoietic anemia, congenital, type iii11.9
3dyserythropoietic anemia, congenital, type iv11.9
4dyserythropoietic anemia, congenital, type ii11.9
5majeed syndrome11.8
6dyserythropoietic anemia, congenital, type ib11.7
7thrombocytopenia, x-linked, with or without dyserythropoietic anemia11.2
8corneal dystrophy, avellino type11.0
9thalassemia10.2
10glomerulosclerosis, focal segmental, 610.2C15orf41, CDAN1
11hemochromatosis10.1
12hematopoietic stem cell transplantation10.1
13hydrops fetalis10.1
14chronic recurrent multifocal osteomyelitis10.0
15pulmonary hypertension10.0
16osteomyelitis10.0
17childhood malignant mesenchymoma9.9CDAN1, SEC23B
18pyruvate kinase deficiency9.8
19dubin-johnson syndrome9.8
20piebaldism9.8
21ectodermal dysplasia9.8
22hemolytic anemia9.8
23leukemia9.8
24pulmonary alveolar proteinosis9.8
25hereditary spherocytosis9.8
26gout9.8
27dyskeratosis congenita9.8
28hairy cell leukemia9.8
29antiphospholipid syndrome9.8
30cerebritis9.8
31congenital hemolytic anemia9.8
32mediastinitis9.8
33priapism9.8
34fibromuscular dysplasia9.8
35splenomegaly9.8
36sickle cell anemia9.8KLF1, RHD
37dic in newborn9.6KIF23, KLF1

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



Diseases related to congenital dyserythropoietic anemia

Symptoms & Phenotypes for Congenital Dyserythropoietic Anemia

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MGI Mouse Phenotypes related to Congenital Dyserythropoietic Anemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.8CD44, CD55, KLF1, MAN2A1, RHD, SEC23B

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 411237439-89-623925
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
2
Omeprazoleapproved, investigational, vet_approvedPhase 433773590-58-64594
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
Proton pump inhibitorsPhase 41080
Synonyms:
 
PPIs
4Gastrointestinal AgentsPhase 48109
5Anti-Ulcer AgentsPhase 41767
6AntacidsPhase 41767

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSECUnknown statusNCT01795794Phase 4
2GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisUnknown statusNCT01201135
3The Congenital Dyserythropoietic Anemia Registry (CDAR)RecruitingNCT02964494

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:

36
Skin, Bone, Bone marrow, Testes, Spleen

Publications for Congenital Dyserythropoietic Anemia

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Articles related to Congenital Dyserythropoietic Anemia:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Distal limb anomalies in patients with congenital dyserythropoietic anemia. (27759939)
2017
2
CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. (27784127)
2016
3
New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia. (27408412)
2016
4
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. (27548341)
2016
5
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. (27206021)
2016
6
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. (27540014)
2016
7
Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha. (27408411)
2016
8
Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia. (27960647)
2016
9
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. (27342114)
2016
10
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
11
Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III. (25900788)
2015
12
Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene. (25912935)
2015
13
A novel variant mutation for congenital dyserythropoietic anemia, type II. (24801741)
2014
14
Congenital dyserythropoietic anemia type I: report of a case. (24554823)
2014
15
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 AA a89A G mutation, and pseudo-Gaucher cells in two siblings. (24801240)
2014
16
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II. (24724984)
2014
17
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. (25044164)
2014
18
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. (24420417)
2014
19
Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II. (25418799)
2014
20
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. (23935019)
2013
21
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. (23570799)
2013
22
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
23
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. (23605369)
2013
24
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. (23719252)
2013
25
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. (23095116)
2013
26
Congenital dyserythropoietic anemia in China: a case report from two families and a review. (24196372)
2013
27
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (23716552)
2013
28
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. (23453696)
2013
29
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload. (21108711)
2012
30
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
31
Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report. (22953144)
2012
32
Florid erythroid dysplasia mimicking congenital dyserythropoietic anemia during the preleukemic phase of acute erythroleukemia. (22292463)
2012
33
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. (22208203)
2011
34
E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. (21252497)
2011
35
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1-alpha localization in erythroblasts. (21364188)
2011
36
The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. (20421275)
2010
37
Congenital dyserythropoietic anemia type I. (20012793)
2010
38
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. (20015893)
2010
39
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. (20941788)
2010
40
Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship. (20442439)
2010
41
Congenital dyserythropoietic anemia. (20820969)
2010
42
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. (21055716)
2010
43
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (19561605)
2009
44
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. (19621418)
2009
45
Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia. (19333601)
2009
46
Tophaceous gout with congenital dyserythropoietic anemia. (19902585)
2009
47
Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II. (19407313)
2009
48
Remission from transfusion-dependence in a patient with congenital dyserythropoietic anemia (CDA) and increased intensity of iron chelation. (19606459)
2009
49
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. (19336738)
2009
50
Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? (19150496)
2009

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
19.7CD44, CD55
2
Show member pathways
8.3CD55, KIF23, MAN2A1, 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
1endoplasmic reticulum-Golgi intermediate compartment membraneGO:003311610.5CD55, SEC23B
2COPII vesicle coatGO:003012710.0SEC23A, SEC23B
3Golgi membraneGO:00001398.5CD55, MAN2A1, SEC23A, SEC23B

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

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi vesicle-mediated transportGO:00068889.0CD55, SEC23A, SEC23B

Sources for Congenital Dyserythropoietic Anemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet