MCID: CNG003
MIFTS: 40

Congenital Dyserythropoietic Anemia malady

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

Aliases & Classifications for Congenital Dyserythropoietic Anemia

About this section

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

About this section
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 bone marrow.

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

About this section

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 32)
idRelated DiseaseScoreTop Affiliating Genes
1dyserythropoietic anemia, congenital, type iii32.8C15orf41, CDAN1
2thrombocytopenia with congenital dyserythropoietic anemia12.2
3dyserythropoietic anemia, congenital, type ia11.9
4dyserythropoietic anemia, congenital, type ii11.8
5dyserythropoietic anemia, congenital, type iv11.8
6majeed syndrome11.7
7dyserythropoietic anemia, congenital, type ib11.6
8corneal dystrophy, avellino type11.1
9hemochromatosis10.2
10thalassemia10.2
11hematopoietic stem cell transplantation10.2
12hydrops fetalis10.2
13serous labyrinthitis10.2C15orf41, CDAN1
14pulmonary hypertension10.1
15osteomyelitis10.1
16chronic recurrent multifocal osteomyelitis10.1
17dubin-johnson syndrome9.9
18piebaldism9.9
19ectodermal dysplasia9.9
20hemolytic anemia9.9
21leukemia9.9
22pulmonary alveolar proteinosis9.9
23gout9.9
24dyskeratosis congenita9.9
25hairy cell leukemia9.9
26antiphospholipid syndrome9.9
27congenital hemolytic anemia9.9
28mediastinitis9.9
29priapism9.9
30splenomegaly9.9
31transient neonatal neutropenia9.3KIF23, KLF1
32pernicious anemia6.6C15orf41, CD44, CD55, CDAN1, KIF23, KLF1

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



Diseases related to congenital dyserythropoietic anemia

Symptoms for Congenital Dyserythropoietic Anemia

About this section

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

About this section

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

About this section

Anatomical Context for Congenital Dyserythropoietic Anemia

About this section

MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

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

Animal Models for Congenital Dyserythropoietic Anemia or affiliated genes

About this section

Publications for Congenital Dyserythropoietic Anemia

About this section

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
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
2
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
3
A novel variant mutation for congenital dyserythropoietic anemia, type II. (24801741)
2014
4
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. (23935019)
2013
5
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. (23570799)
2013
6
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. (20941788)
2010
7
The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. (20421275)
2010
8
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (19561605)
2009
9
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. (19621418)
2009
10
Remission from transfusion-dependence in a patient with congenital dyserythropoietic anemia (CDA) and increased intensity of iron chelation. (19606459)
2009
11
A new type of transfusion-dependent congenital dyserythropoietic anemia. (18024378)
2007
12
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. (17339199)
2007
13
Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child. (16020112)
2005
14
Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. (15278299)
2004
15
Excess of Pappenheimer bodies (siderocytes) in two splenectomized siblings with congenital dyserythropoietic anemia--type II (CDA-II) and iron overload. (15568737)
2004
16
A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. (15543010)
2004
17
Sleep disruption and objective sleepiness in children with beta-thalassemia and congenital dyserythropoietic anemia. (12742882)
2003
18
Congenital dyserythropoietic anemia: clinical and hematological profile. (12824665)
2003
19
Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. (12070051)
2002
20
A case of congenital dyserythropoietic anemia type II, Gilbert's syndrome and malleolar trophic ulcers. (12243985)
2002
21
Priapism in a 15-year-old boy with congenital dyserythropoietic anemia type II (hereditary erythroblastic multinuclearity with positive acidified serum lysis test). (11743348)
2002
22
Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality. (11764104)
2001
23
Possible oxidative stress involvement in congenital dyserythropoietic anemia type 1. (11920245)
2001
24
Congenital dyserythropoietic anemia type III. (10897128)
2000
25
Congenital dyserythropoietic anemia type III associated with congenital atrioseptal defect has led to severe cardiac problems in a 32-year-old patient. (10911387)
2000
26
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). (10753261)
2000
27
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. (11071669)
2000
28
Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated. (11310976)
2000
29
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. (9345103)
1997
30
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. (8639805)
1996
31
Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. (8634422)
1996
32
Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia. (7521883)
1994
33
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
34
A case of congenital dyserythropoietic anemia type II associated with hemochromatosis. (1611191)
1992
35
An aberrant type of congenital dyserythropoietic anemia associated with a beta-thalassemia trait. (2049466)
1991
36
Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia. (1951301)
1991
37
Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. (1858788)
1991
38
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. (2809904)
1989
39
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
40
A case of congenital dyserythropoietic anemia in a male Chinese. (3725428)
1986
41
Transient anti-D in an Rh-positive patient with congenital dyserythropoietic anemia type II. (6324425)
1984
42
Type I congenital dyserythropoietic anemia (CDA I): ultrastructural findings. (6404705)
1983
43
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. (7078263)
1982
44
An unusual type of congenital dyserythropoietic anemia with thalassemia features. (750539)
1978
45
Congenital dyserythropoietic anemia, type II (Hempas). First five reported cases in Italy. (4451733)
1974
46
Ultrastructural studies in a particular case of congenital dyserythropoietic anemia (CDA). (4757883)
1973
47
Congenital dyserythropoietic anemia, type II: report of two cases and a review of the literature. (4636452)
1972
48
Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow. (5008922)
1972
49
Congenital dyserythropoietic anemia type II. Ultrastructure of erythroid cells and hepatocytes. (4333076)
1972
50

Variations for Congenital Dyserythropoietic Anemia

About this section

Expression for genes affiliated with Congenital Dyserythropoietic Anemia

About this section
Search GEO for disease gene expression data for Congenital Dyserythropoietic Anemia.

Pathways for genes affiliated with Congenital Dyserythropoietic Anemia

About this section

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

About this section

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

About this section
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