MCID: CNG003
MIFTS: 42

Congenital Dyserythropoietic Anemia

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

Aliases & Classifications for Congenital Dyserythropoietic Anemia

MalaCards integrated aliases for Congenital Dyserythropoietic Anemia:

Name: Congenital Dyserythropoietic Anemia 12 72 49 24 28 14 69
Anemia, Dyserythropoietic, Congenital 24 41
Dyserythropoietic Anemia, Congenital 72 49
Congenital Dyshaematopoietic Anaemia 12
Anemia Dyserythropoietic Congenital 51
Cda 24

Classifications:



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Disease Ontology 12 DOID:1338
ICD10 32 D64.4
MeSH 41 D000742
NCIt 46 C84646
SNOMED-CT 64 191272005 52951008
UMLS 69 C0002876

Summaries for Congenital Dyserythropoietic Anemia

NIH Rare Diseases : 49 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 anemia, congenital dyserythropoietic, type ia and congenital hemolytic anemia. 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 : 24 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 : 72 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:

Anemia, Congenital Dyserythropoietic, Type Iii Anemia, Congenital Dyserythropoietic, Type Ii
Anemia, Congenital Dyserythropoietic, Type Ia Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Congenital Dyserythropoietic, Type Ib

Diseases related to Congenital Dyserythropoietic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type ia 33.5 C15orf41 CDAN1
2 congenital hemolytic anemia 29.4 CDAN1 KLF1 SEC23B
3 anemia, congenital dyserythropoietic, type iii 12.2
4 anemia, congenital dyserythropoietic, type ii 12.2
5 anemia, congenital dyserythropoietic, type iv 12.1
6 majeed syndrome 12.0
7 anemia, congenital dyserythropoietic, type ib 11.7
8 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.3
9 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.1
10 blood group, i system 10.7
11 thalassemia 10.3
12 hemosiderosis 10.2
13 beta-thalassemia 10.2
14 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
15 hematopoietic stem cell transplantation 10.1
16 hydrops fetalis 10.1
17 chronic recurrent multifocal osteomyelitis 10.0
18 pulmonary hypertension 10.0
19 osteomyelitis 10.0
20 hereditary spherocytosis 10.0
21 fibromuscular dysplasia 9.9
22 hemochromatosis, type 1 9.9
23 dubin-johnson syndrome 9.9
24 pyruvate kinase deficiency of red cells 9.9
25 aging 9.9
26 neutrophilic dermatosis, acute febrile 9.9
27 multiple mitochondrial dysfunctions syndrome 5 9.9
28 ectodermal dysplasia 9.9
29 hemolytic anemia 9.9
30 leukemia 9.9
31 pulmonary alveolar proteinosis 9.9
32 gout 9.9
33 dyskeratosis congenita 9.9
34 hairy cell leukemia 9.9
35 glucosephosphate dehydrogenase deficiency 9.9
36 antiphospholipid syndrome 9.9
37 cerebritis 9.9
38 mediastinitis 9.9
39 priapism 9.9
40 splenomegaly 9.9
41 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.9
42 acrodysostosis 9.9 C15orf41 CDAN1
43 anemia, autoimmune hemolytic 9.9 CD55 RHD

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)
# 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:


# Name Status NCT ID Phase Drugs
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 omeprazole
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:

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia 28

Anatomical Context for Congenital Dyserythropoietic Anemia

MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

38
Skin, Bone, Bone Marrow, Spleen, Eye, Liver, Heart

Publications for Congenital Dyserythropoietic Anemia

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50) (show all 199)
# Title Authors Year
1
Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. ( 29049846 )
2018
2
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. ( 29031773 )
2018
3
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. ( 29300242 )
2017
4
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. ( 28879554 )
2017
5
A case of congenital dyserythropoietic anemia type IV. ( 28265383 )
2017
6
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II. ( 28550189 )
2017
7
Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers. ( 29075082 )
2017
8
Distal limb anomalies in patients with congenital dyserythropoietic anemia. ( 27759939 )
2017
9
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis. ( 28755517 )
2017
10
Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia. ( 28319077 )
2017
11
Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha. ( 27408411 )
2016
12
New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia. ( 27408412 )
2016
13
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. ( 27206021 )
2016
14
Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia. ( 27960647 )
2016
15
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. ( 27342114 )
2016
16
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. ( 27548341 )
2016
17
CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. ( 27784127 )
2016
18
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. ( 27540014 )
2016
19
Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III. ( 25900788 )
2015
20
Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene. ( 25912935 )
2015
21
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
22
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. ( 24420417 )
2014
23
Congenital dyserythropoietic anemia type I: report of a case. ( 24554823 )
2014
24
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II. ( 24724984 )
2014
25
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 AA a89A G mutation, and pseudo-Gaucher cells in two siblings. ( 24801240 )
2014
26
Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II. ( 25418799 )
2014
27
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
28
A novel variant mutation for congenital dyserythropoietic anemia, type II. ( 24801741 )
2014
29
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. ( 23453696 )
2013
30
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. ( 23716552 )
2013
31
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. ( 23605369 )
2013
32
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. ( 23935019 )
2013
33
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. ( 23719252 )
2013
34
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. ( 23095116 )
2013
35
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. ( 23570799 )
2013
36
Congenital dyserythropoietic anemia in China: a case report from two families and a review. ( 24196372 )
2013
37
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
38
Florid erythroid dysplasia mimicking congenital dyserythropoietic anemia during the preleukemic phase of acute erythroleukemia. ( 22292463 )
2012
39
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload. ( 21108711 )
2012
40
Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report. ( 22953144 )
2012
41
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
42
Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1-alpha localization in erythroblasts. ( 21364188 )
2011
43
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. ( 22208203 )
2011
44
E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. ( 21252497 )
2011
45
Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship. ( 20442439 )
2010
46
The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. ( 20421275 )
2010
47
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. ( 21055716 )
2010
48
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
49
Congenital dyserythropoietic anemia type I. ( 20012793 )
2010
50
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. ( 20941788 )
2010

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.26 CD55 MAN2A1 SEC23A SEC23B
2 ER to Golgi transport vesicle membrane GO:0012507 9.16 SEC23A SEC23B
3 COPII vesicle coat GO:0030127 8.62 SEC23A SEC23B

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.13 CD55 SEC23A SEC23B
2 COPII-coated vesicle budding GO:0090114 8.62 SEC23A SEC23B

Sources for Congenital Dyserythropoietic Anemia

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