CDA
MCID: CNG003
MIFTS: 48

Congenital Dyserythropoietic Anemia (CDA)

Categories: Blood diseases, Bone 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 73 20 43 58 29 6 15 70
Dyserythropoietic Anemia, Congenital 73 20
Cda 43 58
Anemia, Dyserythropoietic, Congenital 43
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 44 D000742
NCIt 50 C84646
SNOMED-CT 67 191272005
ICD10 32 D64.4
MESH via Orphanet 45 D000742
ICD10 via Orphanet 33 D64.4
UMLS via Orphanet 71 C0002876
Orphanet 58 ORPHA85
UMLS 70 C0002876

Summaries for Congenital Dyserythropoietic Anemia

MedlinePlus Genetics : 43 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 iii. An important gene associated with Congenital Dyserythropoietic Anemia is SEC23B (SEC23 Homolog B, COPII Coat Complex Component), 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 heart, liver and spleen, and related phenotypes are growth/size/body region and hematopoietic system

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.

GARD : 20 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 : 73 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 231)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type iv 32.8 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN1
2 anemia, congenital dyserythropoietic, type iii 32.7 SEC23B KLF1 KIF23 GATA1 CDIN1 CDAN3
3 anemia, congenital dyserythropoietic, type ii 32.6 SEC23B SEC23A KLF1 KIF23 ERFE CDIN1
4 anemia, congenital dyserythropoietic, type ib 32.4 SEC23B KLF1 KIF23 HAMP GATA1 CDIN1
5 anemia, congenital dyserythropoietic, type ia 31.6 TFRC SEC23B KLF1 KIF23 HAMP GDF15
6 rare hereditary hemochromatosis 31.4 HFE HAMP
7 hemosiderosis 31.1 HFE HAMP EPO
8 acute erythroid leukemia 30.5 KLF1 GATA1 EPO
9 thalassemia minor 30.3 KLF1 GATA1 EPO
10 siderosis 30.0 TFRC HFE HAMP
11 hemolytic anemia 29.9 TFRC RHD PKLR KLF1 HFE EPO
12 paroxysmal nocturnal hemoglobinuria 29.9 TFRC EPO CD55
13 neonatal anemia 29.9 RHD PKLR KLF1 EPO
14 thrombocytopenia 29.9 TFRC RHD GATA1 EPO CD44
15 pyruvate kinase deficiency of red cells 29.8 PKLR CDIN1
16 hemochromatosis, type 1 29.7 TFRC PKLR HFE HAMP GDF15 ERFE
17 iron metabolism disease 29.6 TFRC HFE HAMP EPO
18 iron deficiency anemia 29.5 TFRC HFE HAMP EPO
19 congenital hemolytic anemia 29.5 SEC23B PKLR KLF1 HAMP GATA1 EPO
20 deficiency anemia 29.5 TFRC RHD PKLR KLF1 HFE HAMP
21 hereditary spherocytosis 29.4 TFRC SEC23B RHD PKLR KLF1 HFE
22 hemoglobinopathy 29.2 TFRC KLF1 HFE HAMP GATA1 ERFE
23 beta-thalassemia 29.2 TFRC RHD KLF1 HFE HAMP GDF15
24 myelodysplastic syndrome 28.9 TFRC HFE HAMP GATA1 ERFE EPO
25 majeed syndrome 11.8
26 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.5
27 beta-thalassemia, dominant inclusion body type 11.4
28 lung cancer 11.3
29 corneal dystrophy, avellino type 11.2
30 chronic recurrent multifocal osteomyelitis 11.2
31 acute leukemia 11.2
32 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.1
33 leukemia, acute lymphoblastic 11.0
34 hematologic cancer 11.0
35 leukemia, acute myeloid 11.0
36 immunodeficiency with hyper-igm, type 2 10.9
37 arachnoiditis 10.9
38 macrocytic anemia 10.6
39 splenomegaly 10.6
40 autosomal recessive disease 10.5
41 thalassemia 10.5
42 hydrops fetalis, nonimmune 10.4
43 lymphatic malformation 7 10.4
44 cowden syndrome 7 10.4
45 pulmonary hypertension 10.4
46 cowden syndrome 10.4
47 leukemia, chronic lymphocytic 10.4
48 gallbladder disease 1 10.4
49 bilirubin metabolic disorder 10.4
50 chromosome 2q35 duplication 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 CD44 CD55 CDAN1 CDIN1 GATA1 GDF15
2 hematopoietic system MP:0005397 10.24 CD44 CD55 CDAN1 EPO ERFE GATA1
3 homeostasis/metabolism MP:0005376 10.2 CD44 CD55 EPO ERFE GATA1 GDF15
4 immune system MP:0005387 10 CD44 CD55 EPO GATA1 HFE KLF1
5 liver/biliary system MP:0005370 9.85 CD44 EPO ERFE GATA1 GDF15 HFE
6 mortality/aging MP:0010768 9.83 CD44 CD55 CDAN1 CDIN1 EPO GATA1
7 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 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Iron Approved Phase 4 7439-89-6 23925 29936
3 Antacids Phase 4
4 Gastrointestinal Agents Phase 4
5 Proton Pump Inhibitors Phase 4
6 Anti-Ulcer Agents 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 The Impact of Growth Differentiating Factor (GDF) 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 French National Registry of Congenital Dyserythropoietic Anemia Recruiting NCT03983629
4 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
Heart, Liver, Spleen, Eye, Bone Marrow, Retina, Thyroid

Publications for Congenital Dyserythropoietic Anemia

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50) (show all 389)
# Title Authors PMID Year
1
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). 54 61
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. 61 54
2217175 1990
6
Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report. 61
33777192 2021
7
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). 61
33401150 2021
8
An IDH1-vitamin C crosstalk drives human erythroid development by inhibiting pro-oxidant mitochondrial metabolism. 61
33535038 2021
9
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features. 61
33670882 2021
10
Hemoglobin switching in mice carrying the Klf1Nan variant. 61
32467144 2021
11
Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene. 61
33159567 2021
12
ER-to-Golgi transport and SEC23-dependent COPII vesicles regulate T cell alloimmunity. 61
33463537 2021
13
Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant. 61
32221653 2021
14
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. 61
33186543 2020
15
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene. 61
32720728 2020
16
Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation. 61
33075436 2020
17
Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I. 61
32918595 2020
18
Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III. 61
32818800 2020
19
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020
20
Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1). 61
33339573 2020
21
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
22
Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature. 61
31593005 2020
23
Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a. 61
32302424 2020
24
RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway. 61
32759740 2020
25
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil. 61
32266426 2020
26
E. coli Monomicrobial Necrotizing Fasciitis in an Iron-Overloaded Adolescent. 61
31815828 2020
27
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. 61
32293259 2020
28
A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity. 61
31818881 2020
29
Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation. 61
31760486 2020
30
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 61
32848870 2020
31
Managing the Unusual Causes of Fetal Anemia. 61
31505487 2020
32
Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis. 61
31529567 2019
33
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. 61
30872368 2019
34
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant. 61
31400017 2019
35
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 61
31727123 2019
36
Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report. 61
31598604 2019
37
Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation. 61
30679331 2019
38
Caution is Needed in Interpreting Hemoglobin A1c Levels in the Muslim Bedouin Population of Southern Israel. 61
31474018 2019
39
Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors. 61
31126231 2019
40
KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells. 61
30876823 2019
41
Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report. 61
31183007 2019
42
[New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review]. 61
31104444 2019
43
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. 61
29668551 2019
44
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia. 61
31572203 2019
45
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 61
31191338 2019
46
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
47
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. 61
30786798 2018
48
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 61
29936674 2018
49
Clinical and genetic features of congenital dyserythropoietic anemia (CDA). 61
29901818 2018
50
Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. 61
30065114 2018

Variations for Congenital Dyserythropoietic Anemia

ClinVar genetic disease variations for Congenital Dyserythropoietic Anemia:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEC23B NM_006363.6(SEC23B):c.1079del (p.Leu360fs) Deletion Likely pathogenic 666985 rs1600244935 GRCh37: 20:18508222-18508222
GRCh38: 20:18527578-18527578
2 SEC23B NM_032986.5(SEC23B):c.-15+224C>G SNV Uncertain significance 337783 rs886056523 GRCh37: 20:18488537-18488537
GRCh38: 20:18507893-18507893
3 CDAN1 NM_138477.4(CDAN1):c.*249_*252GTTT[1] Microsatellite Uncertain significance 315913 rs767935615 GRCh37: 15:43016433-43016436
GRCh38: 15:42724235-42724238
4 SEC23B NM_032986.5(SEC23B):c.-15+266T>G SNV Uncertain significance 337787 rs191103191 GRCh37: 20:18488579-18488579
GRCh38: 20:18507935-18507935
5 SEC23B NM_032986.5(SEC23B):c.-15+35C>T SNV Uncertain significance 337780 rs886056522 GRCh37: 20:18488348-18488348
GRCh38: 20:18507704-18507704
6 CDAN1 NM_138477.4(CDAN1):c.1489_1494AGCCAC[3] (p.497_498SH[3]) Microsatellite Uncertain significance 315948 rs778227051 GRCh37: 15:43024563-43024564
GRCh38: 15:42732365-42732366
7 SEC23B NM_032986.5(SEC23B):c.-15+238G>A SNV Uncertain significance 337784 rs886056524 GRCh37: 20:18488551-18488551
GRCh38: 20:18507907-18507907
8 CDAN1 NM_138477.4(CDAN1):c.*775_*778AACA[1] Microsatellite Uncertain significance 315908 rs531320636 GRCh37: 15:43015907-43015910
GRCh38: 15:42723709-42723712
9 SEC23B NM_032986.5(SEC23B):c.-91A>C SNV Uncertain significance 337778 rs561908920 GRCh37: 20:18488237-18488237
GRCh38: 20:18507593-18507593
10 SEC23B NM_032986.5(SEC23B):c.-15+17G>A SNV Uncertain significance 337779 rs886056521 GRCh37: 20:18488330-18488330
GRCh38: 20:18507686-18507686
11 SEC23B NM_032986.5(SEC23B):c.-15+242G>C SNV Uncertain significance 337785 rs373348732 GRCh37: 20:18488555-18488555
GRCh38: 20:18507911-18507911
12 SEC23B NM_032986.5(SEC23B):c.-15+132G>T SNV Uncertain significance 337782 rs138178711 GRCh37: 20:18488445-18488445
GRCh38: 20:18507801-18507801
13 SEC23B NM_006363.6(SEC23B):c.*9_*10del Deletion Likely benign 195501 rs142180765 GRCh37: 20:18541392-18541393
GRCh38: 20:18560748-18560749
14 CDAN1 NM_138477.4(CDAN1):c.*463_*465del Deletion Likely benign 315911 rs111961345 GRCh37: 15:43016224-43016226
GRCh38: 15:42724026-42724028
15 SEC23B NM_032986.5(SEC23B):c.-15+261G>C SNV Likely benign 337786 rs113396443 GRCh37: 20:18488574-18488574
GRCh38: 20:18507930-18507930
16 SEC23B NM_006363.6(SEC23B):c.*318dup Duplication Benign 337801 rs397793825 GRCh37: 20:18541699-18541700
GRCh38: 20:18561055-18561056
17 SEC23B NM_006363.6(SEC23B):c.1233+25dup Duplication Benign 337793 rs57738665 GRCh37: 20:18511458-18511459
GRCh38: 20:18530814-18530815
18 SEC23B NM_032986.5(SEC23B):c.-15+86C>G SNV Benign 337781 rs4813333 GRCh37: 20:18488399-18488399
GRCh38: 20:18507755-18507755

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 COPII vesicle coat GO:0030127 8.96 SEC23B SEC23A
2 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 9.43 HAMP EPO
2 acute-phase response GO:0006953 9.43 HFE HAMP EPO
3 response to iron ion GO:0010039 9.4 HFE HAMP
4 cargo loading into COPII-coated vesicle GO:0090110 9.37 SEC23B SEC23A
5 COPII-coated vesicle budding GO:0090114 9.32 SEC23B SEC23A
6 cellular iron ion homeostasis GO:0006879 9.26 TFRC HFE HAMP ERFE
7 response to iron ion starvation GO:1990641 9.16 HFE HAMP
8 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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