CDA
MCID: CNG003
MIFTS: 40

Congenital Dyserythropoietic Anemia (CDA) 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 27 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 disease that affects the production of red blood cells (erythropoiesis) and is characterized by anemia and problems in various organs. the signs and symptoms may include fatigue, weakness, pale skin, yellowing of the skin and eyes (jaundice), larger-than-normal liver and spleen (hepatosplenomegaly), 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: characterized by moderate to severe anemia; jaundice; hepatosplenomegaly; and iron overload, which can lead to heart problems, liver disease (cirrhosis), and diabetes. some people are born with skeletal defects of the fingers and/or toes. in some cases, the disease can be detected before birth as a hydrops fetalis. it is usually caused by changes (mutations) in the cdan1 and c15orf41(less frequently) genes.  type 2: characterized by hepatosplenomegaly, gallbladder stones, and a milder form of anemia. after 20 years of age, some affected people develop iron overload. it is caused by mutations in the sec23b gene  type 3: the rarest 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 but it likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. type 4: characterized by very severe anemia. it 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. last updated: 2/20/2017

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 is Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Affiliated tissues include skin, bone and bone marrow.

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.

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.

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 38)
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
8thalassemia10.2
9hemochromatosis10.1
10glomerulosclerosis, focal segmental, 610.1C15orf41, CDAN1
11hematopoietic stem cell transplantation10.1
12hydrops fetalis10.1
13branchiootorenal syndrome10.0C15orf41, CDAN1
14chronic recurrent multifocal osteomyelitis10.0
15pulmonary hypertension10.0
16osteomyelitis10.0
17thalassemia-beta, dominant inclusion-body9.9KLF1, RHD
18meningeal melanocytoma9.9CDAN1, KLF1, SEC23B
19disseminated intravascular coagulation9.9KIF23, KLF1
20pyruvate kinase deficiency9.8
21dubin-johnson syndrome9.8
22piebaldism9.8
23ectodermal dysplasia9.8
24hemolytic anemia9.8
25leukemia9.8
26pulmonary alveolar proteinosis9.8
27hereditary spherocytosis9.8
28gout9.8
29dyskeratosis congenita9.8
30hairy cell leukemia9.8
31antiphospholipid syndrome9.8
32cerebritis9.8
33congenital hemolytic anemia9.8
34mediastinitis9.8
35priapism9.8
36fibromuscular dysplasia9.8
37splenomegaly9.8
38gastrointestinal anthrax8.6C15orf41, CD44, CD55, CDAN1, KIF23, 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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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 411657439-89-623925
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 434873590-58-64594
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 41123
Synonyms:
 
PPIs
4Gastrointestinal AgentsPhase 48402
5Anti-Ulcer AgentsPhase 41842
6AntacidsPhase 41842

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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Genetic tests related to Congenital Dyserythropoietic Anemia:

id Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia27

Anatomical Context for Congenital Dyserythropoietic Anemia

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MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

36
Skin, Bone, Bone marrow, Spleen, Eye, Liver, Heart

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
Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha. (27408411)
2016
3
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. (27548341)
2016
4
Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia. (27960647)
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 associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. (27342114)
2016
8
New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia. (27408412)
2016
9
CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. (27784127)
2016
10
Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III. (25900788)
2015
11
Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene. (25912935)
2015
12
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
13
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 AA a89A G mutation, and pseudo-Gaucher cells in two siblings. (24801240)
2014
14
A novel variant mutation for congenital dyserythropoietic anemia, type II. (24801741)
2014
15
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II. (24724984)
2014
16
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. (24420417)
2014
17
Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II. (25418799)
2014
18
Congenital dyserythropoietic anemia type I: report of a case. (24554823)
2014
19
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
20
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. (23453696)
2013
21
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. (23716552)
2013
22
Congenital dyserythropoietic anemia in China: a case report from two families and a review. (24196372)
2013
23
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. (23570799)
2013
24
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. (23935019)
2013
25
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. (23719252)
2013
26
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
27
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. (23095116)
2013
28
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. (23605369)
2013
29
Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report. (22953144)
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
Florid erythroid dysplasia mimicking congenital dyserythropoietic anemia during the preleukemic phase of acute erythroleukemia. (22292463)
2012
32
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload. (21108711)
2012
33
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1-alpha localization in erythroblasts. (21364188)
2011
34
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. (22208203)
2011
35
E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. (21252497)
2011
36
Congenital dyserythropoietic anemia type I. (20012793)
2010
37
Congenital dyserythropoietic anemia. (20820969)
2010
38
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. (21055716)
2010
39
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. (20941788)
2010
40
The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. (20421275)
2010
41
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
42
Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship. (20442439)
2010
43
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. (19621418)
2009
44
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (19561605)
2009
45
Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia. (19333601)
2009
46
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated. (19336738)
2009
47
Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II. (19407313)
2009
48
Tophaceous gout with congenital dyserythropoietic anemia. (19902585)
2009
49
Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? (19150496)
2009
50
Remission from transfusion-dependence in a patient with congenital dyserythropoietic anemia (CDA) and increased intensity of iron chelation. (19606459)
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
19.3SEC23A, SEC23B

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