MCID: CNG003
MIFTS: 37

Congenital Dyserythropoietic Anemia malady

Categories: Genetic diseases, Rare 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 10 45 23 12 65
Anemia, Dyserythropoietic, Congenital 23 36
Congenital Dyshaematopoietic Anaemia 10
 
Dyserythropoietic Anemia, Congenital 45
Anemia Dyserythropoietic Congenital 47
Cda 23

Classifications:



External Ids:

Disease Ontology10 DOID:1338
ICD1027 D64.4
SNOMED-CT59 191272005, 52951008
MeSH36 D000742
NCIt42 C84646
UMLS65 C0002876

Summaries for Congenital Dyserythropoietic Anemia

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NIH Rare Diseases:45 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 iii and thrombocytopenia with congenital dyserythropoietic anemia. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (Codanin 1), and among its related pathways are Hematopoietic cell lineage and MHC class II antigen presentation. Affiliated tissues include skin, bone and liver.

Disease Ontology:10 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:23 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:68 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 top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1dyserythropoietic anemia, congenital, type iii33.4C15orf41, CDAN1
2thrombocytopenia with congenital dyserythropoietic anemia12.6
3dyserythropoietic anemia, congenital, type ia12.3
4dyserythropoietic anemia, congenital, type ii12.2
5dyserythropoietic anemia, congenital, type iv12.2
6majeed syndrome12.1
7dyserythropoietic anemia, congenital, type ib12.0
8corneal dystrophy, avellino type11.5
9lymphoma10.5
10endotheliitis10.5
11hiv-110.4
12leukemia10.4
13thyroiditis10.4
14rheumatoid arthritis10.3
15lung cancer10.3
16renal cell carcinoma10.3
17arthritis10.3
18gastric cancer10.3
19sarcoma10.3
20disseminated intravascular coagulation10.3
21adenocarcinoma10.3
22herpes zoster10.3
23myeloid leukemia10.3
24neuropathy10.3
25leishmaniasis10.3
26glioma10.3
27colorectal cancer10.2
28systemic lupus erythematosus10.2
29asthma10.2
30breast cancer10.2
31gastroesophageal reflux10.2
32peutz-jeghers syndrome10.2
33spondyloepiphyseal dysplasia tarda10.2
34incontinentia pigmenti10.2
35lipoma10.2
36acute lymphocytic leukemia10.2
37anaplastic large cell lymphoma10.2
38arteriovenous fistula10.2
39burns10.2
40calpainopathy10.2
41chronic granulomatous disease10.2
42cutaneous leishmaniasis10.2
43glomerulonephritis10.2
44ischemic optic neuropathy10.2
45liver disease10.2
46male infertility10.2
47mycosis fungoides10.2
48primary biliary cirrhosis10.2
49renal tubular acidosis10.2
50spinal cord injury10.2

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
Omeprazoleapproved, investigationalPhase 432173590-58-64594
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
Being Well Omeprazole
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Care One Omeprazole
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dg Health Omeprazole
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Equaline Omeprazole
Equate Omeprazole Delayed Release acid reducer
Erbolin
Esomeprazole
Esomperazole
Esopral
Exchange Select Omeprazole
Exter
Family Wellness Omeprazole
Formu Care Omeprazole
Fulton Street Market Omeprazole
Gasec
Gastrimut
Gastroloc
Gibancer
Good Neighbor Pharmacy Omeprazole
Good Sense Omeprazole
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
Harmon Face Values Omeprazole
Health Mart Omeprazole
Healthy Accents Omeprazole
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
Kirkland Signature Omeprazole
LS-7629
Leader Omeprazole
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Members Mark Omeprazole
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
Olex
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Delayed Release
Omeprazole Delayed-release
Omeprazole Magnesium
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazole sodium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesec
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Preferred Plus Omeprazole
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Quality Choice Omeprazole
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
Shoprite Omeprazole
Simply Right Omeprazole
Smart Sense Omeprazole
Sunmark Omeprazole
TL8005099
Tedec Ulceral
Topcare Omeprazole
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
2
IronapprovedPhase 410217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
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:

33
Skin, Bone, Liver, Heart, Bone marrow, Eye, Spleen

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 181)
idTitleAuthorsYear
1
Cholangiocarcinoma with a paraneoplastic leukemoid reaction mimicking a pyogenic liver abscess. (25589843)
2015
2
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. (24801231)
2014
3
Influence of component 5a receptor 1 (C5AR1) -1330T/G polymorphism on nonsedating H1-antihistamines therapy in Chinese patients with chronic spontaneous urticaria. (25455139)
2014
4
Nothing as it seems. Todd's paralysis. (23400673)
2013
5
Feline small cell lymphosarcoma versus inflammatory bowel disease: treatment and prognosis. (23814916)
2013
6
Computer-assisted local resection for exostosis osteochondroma of the mandibular condyle. (23851898)
2013
7
Schedule for rating disabilities; AL amyloidosis (primary amyloidosis). Final rule. (22359806)
2012
8
Chikungunya outbreak--Cambodia, February-March 2012. (22992571)
2012
9
Structural studies of the TGF-I^s and their receptors - insights into evolution of the TGF-I^ superfamily. (22651914)
2012
10
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients. (21226712)
2011
11
Alternative therapeutic advantages of catfish bile on atopic dermatitis: protection of T cell-mediated skin disease via antioxidant activities. (21899549)
2011
12
mTOR drives its own activation via SCF(I^TrCP)-dependent degradation of the mTOR inhibitor DEPTOR. (22017875)
2011
13
Cardiovascular autonomic dysfunction in Parkinson's disease. (19740484)
2010
14
Identification of potential vectors of and detection of antibodies against Rift Valley fever virus in livestock during interepizootic periods. (20433377)
2010
15
Arterial biopsy in giant cell arteries and polymyalgia rheumatica. (21111949)
2010
16
Comment on: Below-Knee Bare Nitinol Stent Placement in High-risk Patients with Critical Limb Ischemia and Unlimited Supragenicular Inflow as Treatment of Choice "K.P. Donas, A. Schwindt, T. SchAPnefeld, J. Tessarek, G. Torsello". (19328025)
2009
17
Borrelia burgdorferi is not associated with genital lichen sclerosus in men. (19077073)
2009
18
Decreased sputum mature dendritic cells in healthy smokers and patients with chronic obstructive pulmonary disease. (19571571)
2009
19
Protein 4.1 and its interaction with other cytoskeletal proteins in Xenopus laevis oogenesis. (19304341)
2009
20
Molecular cloning and preliminary expression analysis of banded dogfish (Triakis scyllia) TNF decoy receptor 3 (TNFRSF6B). (18201904)
2008
21
Arg25Pro polymorphism of transforming growth factor-beta1 and its role in the pathogenesis of essential hypertension in Russian population of the Central Chernozem Region. (18256755)
2007
22
Human cytochrome p450 family 4 enzymes: function, genetic variation and regulation. (17786636)
2007
23
A model to infer the pathogenic significance of CDH1 germline missense variants. (16924464)
2006
24
Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A. (16380445)
2006
25
Short photoperiod enhances thermogenic capacity in Brandt's voles. (15924911)
2005
26
Acarbose attenuates hypoglycemia from dumping syndrome in an elderly man with gastrectomy. (15673372)
2005
27
Link protein has greater affinity for versican than aggrecan. (14724283)
2004
28
The TF-603A/G gene promoter polymorphism and circulating monocyte tissue factor gene expression in healthy volunteers. (14961150)
2004
29
Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant. (12812987)
2003
30
Comparison of human and mouse Fuc-TX and Fuc-TXI genes, and expression studies in the mouse. (12370785)
2002
31
Dietary fibre and coronary heart disease. (12395688)
2002
32
Disruption of the D2 dopamine receptor alters GH and IGF-I secretion and causes dwarfism in male mice. (11897683)
2002
33
Macrolide therapy of group A streptococcal pharyngitis: 10 days of macrolide therapy (clarithromycin) is more effective in streptococcal eradication than 5 days (azithromycin). (11360224)
2001
34
Structure-directed discovery of potent non-peptidic inhibitors of human urokinase that access a novel binding subsite. (10801494)
2000
35
Efficacy of antithrombin replacement therapy in severe early-onset preeclampsia. (10625203)
1999
36
Severe atrophic gastritis with Helicobacter pylori infection and gastric cancer. (11957055)
1998
37
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (8755644)
1996
38
A common BRCA1 mutation in Norwegian breast and ovarian cancer families? (8755943)
1996
39
Adhesion of flowing leucocytes to immobilized platelets. (7539623)
1995
40
Dialkyldithiocarbamates inhibit tyrosine hydroxylase activity in PC12 cells and in fibroblasts that express tyrosine hydroxylase. (8581560)
1995
41
Physical mapping of chromosome 17p13.3 in the region of a putative tumor suppressor gene important in medulloblastoma. (7829075)
1994
42
Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. (1505991)
1992
43
Nucleolar organizer regions in congenital mesoblastic nephroma. (1333074)
1992
44
Serum interleukin-6 concentrations are elevated and associated with elevated tumor necrosis factor-alpha and immunoglobulin G and A concentrations in children with HIV infection. (1768380)
1991
45
Hypercalcaemia and serum TNF-alpha in T-cell leukaemia. (1970078)
1990
46
Vitreous fluorophotometry in patients with cone-rod dystrophy. (6733074)
1984
47
Recurrent ketoacidosis in acquired, total lipodystrophy (lipoatrophic diabetes). (6432502)
1984
48
Haemoconcentration in severe pre-eclampsia. (7126500)
1982
49
Primary systematized amyloidosis with macroglossia; a syndrome related to Bence Jones proteinuria and myeloma. (20287348)
1947
50

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
19.5CD44, CD55
29.1KIF23, SEC23A
3
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:00331169.7CD55, SEC23B
2COPII vesicle coatGO:00301279.4SEC23A, SEC23B

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

idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:00198869.1KIF23, SEC23A

Sources for Congenital Dyserythropoietic Anemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet