CDA
MCID: CNG003
MIFTS: 49

Congenital Dyserythropoietic Anemia (CDA)

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

Aliases & Classifications for Congenital Dyserythropoietic Anemia

MalaCards integrated aliases for Congenital Dyserythropoietic Anemia:

Name: Congenital Dyserythropoietic Anemia 12 74 52 25 58 29 6 15 71
Dyserythropoietic Anemia, Congenital 74 52
Cda 25 58
Anemia, Dyserythropoietic, Congenital 25
Congenital Dyshaematopoietic Anaemia 12
Anemia Dyserythropoietic Congenital 54

Characteristics:

Orphanet epidemiological data:

58
congenital dyserythropoietic anemia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:1338
MeSH 43 D000742
NCIt 49 C84646
SNOMED-CT 67 52951008
ICD10 32 D64.4
MESH via Orphanet 44 D000742
ICD10 via Orphanet 33 D64.4
UMLS via Orphanet 72 C0002876
Orphanet 58 ORPHA85
UMLS 71 C0002876

Summaries for Congenital Dyserythropoietic Anemia

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. Researchers have identified three major types of CDA: type I, type II, and type III. The types have different genetic causes and different but overlapping patterns of signs and symptoms. CDA type I is characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis. The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). Several other variants of CDA have been described, although they appear to be rare and not much is known about them. Once researchers discover the genetic causes of these variants, some of them may be grouped with the three major types of CDA.

MalaCards based summary : Congenital Dyserythropoietic Anemia, also known as dyserythropoietic anemia, congenital, is related to anemia, congenital dyserythropoietic, type iv and anemia, congenital dyserythropoietic, type ii. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (Codanin 1), and among its related pathways/superpathways are Hematopoietic cell lineage and Hematopoietic Stem Cell Differentiation. The drugs Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and liver, and related phenotypes are hematopoietic system and homeostasis/metabolism

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.

NIH Rare Diseases : 52 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 .

Wikipedia : 74 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 top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type iv 33.7 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
2 anemia, congenital dyserythropoietic, type ii 33.6 SEC23B SEC23A KLF1 KIF23 CDIN1 CDAN1
3 anemia, congenital dyserythropoietic, type iii 33.5 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN3
4 anemia, congenital dyserythropoietic, type ib 33.2 SEC23B KLF1 KIF23 HAMP GATA1 CDIN1
5 anemia, congenital dyserythropoietic, type ia 32.2 TFRC SEC23B KLF1 KIF23 HAMP GDF15
6 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.8 TFRC HFE HAMP GATA1 EPO
7 deficiency anemia 30.8 TFRC HFE HAMP GATA1 EPO
8 hemosiderosis 30.5 TFRC HFE HAMP EPO
9 erythroleukemia, familial 30.3 KLF1 GATA1 EPO
10 hemolytic anemia 30.1 TFRC RHD PKLR KLF1 EPO CD55
11 siderosis 30.1 TFRC HFE HAMP
12 pyruvate kinase deficiency of red cells 29.8 PKLR CDIN1
13 hemochromatosis, type 1 29.8 TFRC PKLR HFE HAMP GDF15 ERFE
14 thrombocytopenia 29.7 TFRC RHD GATA1 EPO CD44
15 neonatal anemia 29.7 RHD PKLR KLF1 EPO CDIN1
16 hemoglobinopathy 29.4 TFRC KLF1 HFE HAMP EPO
17 iron metabolism disease 29.4 TFRC HFE HAMP EPO
18 iron deficiency anemia 29.4 TFRC HFE HAMP EPO
19 hereditary spherocytosis 29.2 TFRC SEC23B RHD PKLR KLF1 HFE
20 thalassemia 29.0 TFRC KLF1 HFE HAMP GDF15 GATA1
21 congenital hemolytic anemia 28.9 TFRC SEC23B PKLR KLF1 HAMP GATA1
22 myelodysplastic syndrome 28.8 TFRC HFE HAMP GATA1 EPO CD55
23 beta-thalassemia 28.6 TFRC RHD KLF1 HFE HAMP GDF15
24 majeed syndrome 12.5
25 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.0
26 chronic recurrent multifocal osteomyelitis 11.7
27 beta-thalassemia, dominant inclusion body type 11.6
28 leukemia, chronic lymphocytic 11.6
29 leukemia, acute myeloid 11.6
30 corneal dystrophy, avellino type 11.5
31 acute leukemia 11.4
32 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.4
33 leukemia, acute lymphoblastic 11.3
34 hematologic cancer 11.3
35 pancreatic adenocarcinoma 11.3
36 immunodeficiency with hyper-igm, type 2 11.2
37 rare hereditary hemochromatosis 10.8
38 macrocytic anemia 10.7
39 splenomegaly 10.6
40 autosomal recessive disease 10.6
41 hydrops fetalis, nonimmune 10.5
42 gallbladder disease 1 10.4
43 cholelithiasis 10.4
44 bilirubin metabolic disorder 10.4
45 chromosome 2q35 duplication syndrome 10.3
46 pulmonary hypertension 10.3
47 epileptic encephalopathy, early infantile, 50 10.3 SEC23B PKLR
48 chromophobe renal cell carcinoma 10.3
49 renal oncocytoma 10.3
50 gilbert syndrome 10.3

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



Diseases related to Congenital Dyserythropoietic Anemia

Symptoms & Phenotypes for Congenital Dyserythropoietic Anemia

MGI Mouse Phenotypes related to Congenital Dyserythropoietic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 CD44 CD55 EPO ERFE GATA1 GDF15
2 homeostasis/metabolism MP:0005376 10.2 CD44 CD55 EPO ERFE GATA1 GDF15
3 growth/size/body region MP:0005378 10.18 CD44 CD55 CDAN1 CDIN1 GATA1 GDF15
4 embryo MP:0005380 10.03 CDAN1 CDIN1 EPO GATA1 KLF1 LPIN2
5 immune system MP:0005387 10 CD44 CD55 EPO GATA1 HFE KLF1
6 liver/biliary system MP:0005370 9.85 CD44 EPO ERFE GATA1 GDF15 HFE
7 mortality/aging MP:0010768 9.83 CD44 CD55 CDAN1 CDIN1 EPO GATA1
8 normal MP:0002873 9.28 CD44 CDAN1 EPO GATA1 HFE PKLR

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
3 Antacids Phase 4
4 Anti-Ulcer Agents Phase 4
5 Proton Pump Inhibitors Phase 4
6 Gastrointestinal Agents Phase 4
7 Papaya Approved
8 Antioxidants

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 The Impact of Growth Differentiating Factor (GDF) 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 Oxidative Stress Contributes to Hemolysis in Patients With Hereditary Spherocytosis (HS) and Can be Ameliorated by Fermented Papaya Preparation (FPP) Unknown status NCT01201174
4 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Attending to Assuit University Children Hospital Unknown status NCT03533322
5 French National Registry of Congenital Dyserythropoietic Anemia Recruiting NCT03983629
6 The Congenital Dyserythropoietic Anemia Registry (CDAR) Recruiting NCT02964494

Search NIH Clinical Center for Congenital Dyserythropoietic Anemia

Genetic Tests for Congenital Dyserythropoietic Anemia

Genetic tests related to Congenital Dyserythropoietic Anemia:

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia 29

Anatomical Context for Congenital Dyserythropoietic Anemia

MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

40
Skin, Spleen, Liver, Eye, Heart, Bone, Bone Marrow

Publications for Congenital Dyserythropoietic Anemia

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50) (show all 375)
# Title Authors PMID Year
1
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). 61 54
18166993 2008
2
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. 54 61
11071669 2000
3
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-)]. 61 54
7507739 1994
4
Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS). 61 54
7506081 1994
5
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. 54 61
2217175 1990
6
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020
7
Hemoglobin switching in mice carrying the Klf1Nan variant. 61
32467144 2020
8
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil. 61
32266426 2020
9
E. coli Monomicrobial Necrotizing Fasciitis in an Iron-Overloaded Adolescent. 61
31815828 2020
10
Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a. 61
32302424 2020
11
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. 61
32293259 2020
12
Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant. 61
32221653 2020
13
A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature. 61
32032242 2020
14
A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity. 61
31818881 2020
15
Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation. 61
31760486 2020
16
Managing the Unusual Causes of Fetal Anemia. 61
31505487 2020
17
Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis. 61
31529567 2019
18
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. 61
30872368 2019
19
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 61
31727123 2019
20
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant. 61
31400017 2019
21
Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature. 61
31593005 2019
22
Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report. 61
31598604 2019
23
Caution is Needed in Interpreting Hemoglobin A1c Levels in the Muslim Bedouin Population of Southern Israel. 61
31474018 2019
24
Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation. 61
30679331 2019
25
KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells. 61
30876823 2019
26
Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors. 61
31126231 2019
27
Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report. 61
31183007 2019
28
[New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review]. 61
31104444 2019
29
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. 61
29668551 2019
30
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia. 61
31572203 2019
31
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 61
31191338 2019
32
Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia. 61
29846281 2018
33
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. 61
30786798 2018
34
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 61
29936674 2018
35
Clinical and genetic features of congenital dyserythropoietic anemia (CDA). 61
29901818 2018
36
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. 61
29300242 2018
37
Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. 61
30065114 2018
38
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations. 61
29599085 2018
39
Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia. 61
30002048 2018
40
Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. 61
29885034 2018
41
[Congenital dyserythropoietic anemia type Ⅱ with rare SEC23B mutations: a case report]. 61
30032575 2018
42
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias. 61
29792684 2018
43
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. 61
29396846 2018
44
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 61
29779353 2018
45
CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis. 61
27784127 2018
46
Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. 61
29049846 2018
47
Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations. 61
29047116 2018
48
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. 61
29031773 2018
49
Rare anemias from the group of congenital bone marrow failure syndromes. 61
30193517 2018
50
Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers. 61
29075082 2017

Variations for Congenital Dyserythropoietic Anemia

ClinVar genetic disease variations for Congenital Dyserythropoietic Anemia:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC23B NM_006363.6(SEC23B):c.1079del (p.Leu360fs)deletion Likely pathogenic 666985 20:18508222-18508222 20:18527578-18527578
2 CDAN1 NM_138477.4(CDAN1):c.1489_1494AGCCAC[3] (p.497_498SH[3])short repeat Uncertain significance 315948 rs778227051 15:43024563-43024564 15:42732365-42732366
3 SEC23B NM_032986.4(SEC23B):c.-15+35C>TSNV Uncertain significance 337780 rs886056522 20:18488348-18488348 20:18507704-18507704
4 CDAN1 NM_138477.4(CDAN1):c.*775_*778AACA[1]short repeat Uncertain significance 315908 rs531320636 15:43015907-43015910 15:42723709-42723712
5 CDAN1 NM_138477.4(CDAN1):c.*249_*252GTTT[1]short repeat Uncertain significance 315913 rs767935615 15:43016433-43016436 15:42724235-42724238
6 SEC23B NM_032986.4(SEC23B):c.-91A>CSNV Uncertain significance 337778 rs561908920 20:18488237-18488237 20:18507593-18507593
7 SEC23B NM_032986.4(SEC23B):c.-15+132G>TSNV Uncertain significance 337782 rs138178711 20:18488445-18488445 20:18507801-18507801
8 SEC23B NM_032986.4(SEC23B):c.-15+224C>GSNV Uncertain significance 337783 rs886056523 20:18488537-18488537 20:18507893-18507893
9 SEC23B NM_032986.4(SEC23B):c.-15+238G>ASNV Uncertain significance 337784 rs886056524 20:18488551-18488551 20:18507907-18507907
10 SEC23B NM_032986.4(SEC23B):c.-15+242G>CSNV Uncertain significance 337785 rs373348732 20:18488555-18488555 20:18507911-18507911
11 SEC23B NM_032986.4(SEC23B):c.-15+266T>GSNV Uncertain significance 337787 rs191103191 20:18488579-18488579 20:18507935-18507935
12 SEC23B NM_032986.4(SEC23B):c.-15+17G>ASNV Uncertain significance 337779 rs886056521 20:18488330-18488330 20:18507686-18507686
13 CDAN1 NM_138477.4(CDAN1):c.*463_*465deldeletion Likely benign 315911 rs111961345 15:43016224-43016226 15:42724026-42724028
14 SEC23B NM_032986.4(SEC23B):c.-15+261G>CSNV Likely benign 337786 rs113396443 20:18488574-18488574 20:18507930-18507930
15 SEC23B NM_006363.6(SEC23B):c.*9_*10deldeletion Benign/Likely benign 195501 rs142180765 20:18541392-18541393 20:18560748-18560749
16 SEC23B NM_006363.6(SEC23B):c.*318dupduplication Benign 337801 rs397793825 20:18541699-18541700 20:18561055-18561056
17 SEC23B NM_032986.4(SEC23B):c.-15+86C>GSNV Benign 337781 rs4813333 20:18488399-18488399 20:18507755-18507755
18 SEC23B NM_006363.6(SEC23B):c.1233+25dupduplication Benign 337793 rs57738665 20:18511458-18511459 20:18530814-18530815

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 10.92 TFRC EPO CD55 CD44
2 10.81 KLF1 GATA1 EPO
3 10.34 TFRC HAMP
4 10 HFE HAMP

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 cell GO:0005623 9.63 TFRC KIF23 HFE HAMP ERFE CD55
2 COPII vesicle coat GO:0030127 8.96 SEC23B SEC23A
3 HFE-transferrin receptor complex GO:1990712 8.62 TFRC HFE

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

# Name GO ID Score Top Affiliating Genes
1 response to vitamin A GO:0033189 9.46 HAMP EPO
2 response to iron ion GO:0010039 9.43 HFE HAMP
3 acute-phase response GO:0006953 9.43 HFE HAMP EPO
4 cargo loading into COPII-coated vesicle GO:0090110 9.4 SEC23B SEC23A
5 multicellular organismal iron ion homeostasis GO:0060586 9.37 HFE HAMP
6 COPII-coated vesicle budding GO:0090114 9.32 SEC23B SEC23A
7 cellular iron ion homeostasis GO:0006879 9.26 TFRC HFE HAMP ERFE
8 response to iron ion starvation GO:1990641 9.16 HFE HAMP
9 erythrocyte differentiation GO:0030218 8.92 KLF1 GATA1 EPO CDIN1

Molecular functions related to Congenital Dyserythropoietic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 HAMP ERFE EPO

Sources for Congenital Dyserythropoietic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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53 NINDS
54 Novoseek
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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