CDA
MCID: CNG003
MIFTS: 40

Congenital Dyserythropoietic Anemia (CDA) malady

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

Aliases & Classifications for Congenital Dyserythropoietic Anemia

Aliases & Descriptions for Congenital Dyserythropoietic Anemia:

Name: Congenital Dyserythropoietic Anemia 12 50 25 14 69
Anemia, Dyserythropoietic, Congenital 25 29 42
Congenital Dyshaematopoietic Anaemia 12
Dyserythropoietic Anemia, Congenital 50
Anemia Dyserythropoietic Congenital 52
Cda 25

Classifications:



External Ids:

Disease Ontology 12 DOID:1338
ICD10 33 D64.4
MeSH 42 D000742
NCIt 47 C84646
SNOMED-CT 64 191272005 52951008
UMLS 69 C0002876

Summaries for Congenital Dyserythropoietic Anemia

NIH Rare Diseases : 50 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/superpathways is Sterol Regulatory Element-Binding Proteins (SREBP) signalling. The drugs Iron and Omeprazole have been mentioned in the context of this disorder. 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 : 12 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

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)
id Related Disease Score Top Affiliating Genes
1 dyserythropoietic anemia, congenital, type ia 11.9
2 dyserythropoietic anemia, congenital, type iii 11.9
3 dyserythropoietic anemia, congenital, type iv 11.9
4 dyserythropoietic anemia, congenital, type ii 11.9
5 majeed syndrome 11.8
6 dyserythropoietic anemia, congenital, type ib 11.7
7 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.2
8 thalassemia 10.2
9 hemochromatosis 10.1
10 glomerulosclerosis, focal segmental, 6 10.1 C15orf41 CDAN1
11 hematopoietic stem cell transplantation 10.1
12 hydrops fetalis 10.1
13 branchiootorenal syndrome 10.0 C15orf41 CDAN1
14 osteomyelitis 10.0
15 chronic recurrent multifocal osteomyelitis 10.0
16 pulmonary hypertension 10.0
17 thalassemia-beta, dominant inclusion-body 9.9 KLF1 RHD
18 meningeal melanocytoma 9.9 CDAN1 KLF1 SEC23B
19 disseminated intravascular coagulation 9.9 KIF23 KLF1
20 pulmonary alveolar proteinosis 9.8
21 hereditary spherocytosis 9.8
22 gout 9.8
23 piebaldism 9.8
24 dyskeratosis congenita 9.8
25 hairy cell leukemia 9.8
26 antiphospholipid syndrome 9.8
27 cerebritis 9.8
28 congenital hemolytic anemia 9.8
29 mediastinitis 9.8
30 priapism 9.8
31 ectodermal dysplasia 9.8
32 fibromuscular dysplasia 9.8
33 hemolytic anemia 9.8
34 splenomegaly 9.8
35 pyruvate kinase deficiency 9.8
36 leukemia 9.8
37 dubin-johnson syndrome 9.8
38 gastrointestinal anthrax 8.6 C15orf41 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

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 23925
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3 Antacids Phase 4
4 Anti-Ulcer Agents Phase 4
5 Gastrointestinal Agents Phase 4
6
Proton pump inhibitors Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4
2 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 The Congenital Dyserythropoietic Anemia Registry (CDAR) Recruiting NCT02964494

Search NIH Clinical Center for Congenital Dyserythropoietic Anemia

Cochrane evidence based reviews: anemia, dyserythropoietic, congenital

Genetic Tests for Congenital Dyserythropoietic Anemia

Genetic tests related to Congenital Dyserythropoietic Anemia:

id Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia 29

Anatomical Context for Congenital Dyserythropoietic Anemia

MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

39
Skin, Bone, Bone Marrow, Spleen, Heart, Eye, Liver

Publications for Congenital Dyserythropoietic Anemia

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50) (show all 190)
id Title Authors Year
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

Expression for Congenital Dyserythropoietic Anemia

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

Pathways for Congenital Dyserythropoietic Anemia

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

id Super pathways Score Top Affiliating Genes
1 10.49 SEC23A SEC23B

GO Terms for Congenital Dyserythropoietic Anemia

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

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.26 CD55 MAN2A1 SEC23A SEC23B
2 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.16 CD55 SEC23B
3 COPII vesicle coat GO:0030127 8.62 SEC23A SEC23B

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

id Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 8.8 CD55 SEC23A SEC23B

Sources for Congenital Dyserythropoietic Anemia

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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