CDA
MCID: CNG003
MIFTS: 47

Congenital Dyserythropoietic Anemia (CDA)

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

Aliases & Classifications for Congenital Dyserythropoietic Anemia

MalaCards integrated aliases for Congenital Dyserythropoietic Anemia:

Name: Congenital Dyserythropoietic Anemia 12 75 53 25 59 29 6 15 72
Anemia, Dyserythropoietic, Congenital 25 44
Dyserythropoietic Anemia, Congenital 75 53
Cda 25 59
Congenital Dyshaematopoietic Anaemia 12
Anemia Dyserythropoietic Congenital 55

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Disease Ontology 12 DOID:1338
MeSH 44 D000742
NCIt 50 C84646
SNOMED-CT 68 52951008
ICD10 33 D64.4
MESH via Orphanet 45 D000742
ICD10 via Orphanet 34 D64.4
UMLS via Orphanet 73 C0002876
Orphanet 59 ORPHA85
UMLS 72 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 anemia, dyserythropoietic, congenital, is related to anemia, congenital dyserythropoietic, type ia and macrocytic anemia. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (Codanin 1), and among its related pathways/superpathways is Hematopoietic Stem Cell Differentiation. The drugs Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related phenotype is 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.

NIH Rare Diseases : 53 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 : 75 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 154)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type ia 34.4 CDAN1 C15orf41
2 macrocytic anemia 30.8 CDAN1 C15orf41
3 congenital hemolytic anemia 30.4 SEC23B KLF1
4 erythroleukemia, familial 30.2 KLF1 GATA1
5 beta-thalassemia 30.2 RHD KLF1 GATA1
6 hereditary spherocytosis 29.7 SEC23B RHD KLF1 GATA1
7 anemia, autoimmune hemolytic 29.6 RHD CD55
8 majeed syndrome 12.5
9 anemia, congenital dyserythropoietic, type ii 12.5
10 anemia, congenital dyserythropoietic, type iii 12.5
11 anemia, congenital dyserythropoietic, type iv 12.5
12 anemia, congenital dyserythropoietic, type ib 12.2
13 corneal dystrophy, avellino type 12.0
14 chronic recurrent multifocal osteomyelitis 11.7
15 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.7
16 beta-thalassemia, dominant inclusion body type 11.6
17 hematologic cancer 11.4
18 extraosseous osteosarcoma 11.4
19 echolalia 11.4
20 refractory hairy cell leukemia 11.4
21 refractory hematologic cancer 11.4
22 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.4
23 deficiency anemia 11.1
24 hemosiderosis 10.8
25 rare hereditary hemochromatosis 10.8
26 hemochromatosis, type 1 10.7
27 hemolytic anemia 10.7
28 splenomegaly 10.6
29 thalassemia 10.5
30 autosomal recessive disease 10.5
31 fetal edema 10.5
32 hydrops fetalis 10.5
33 gallbladder disease 1 10.4
34 cholelithiasis 10.4
35 bilirubin metabolic disorder 10.4
36 leukemia, chronic lymphocytic 10.4
37 lymphocytic leukemia 10.4
38 leukemia, b-cell, chronic 10.4
39 acrodysostosis 10.3 CDAN1 C15orf41
40 chromosome 2q35 duplication syndrome 10.3
41 pulmonary hypertension 10.3
42 thrombocytopenia 10.3
43 leukemia, acute myeloid 10.3
44 chromophobe renal cell carcinoma 10.3
45 renal oncocytoma 10.3
46 gilbert syndrome 10.3
47 liver cirrhosis 10.3
48 hematopoietic stem cell transplantation 10.3
49 spherocytosis, type 4 10.2 KLF1 GATA1
50 angioid streaks 10.2

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 hematopoietic system MP:0005397 9.17 CD44 CD55 GATA1 KLF1 MAN2A1 RHD

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 23925 27284
3 Gastrointestinal Agents Phase 4
4 Antacids Phase 4
5 Proton Pump Inhibitors Phase 4
6 Anti-Ulcer 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 French National Registry of Congenital Dyserythropoietic Anemia Recruiting NCT03983629
5 The Congenital Dyserythropoietic Anemia Registry (CDAR) Recruiting NCT02964494
6 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Attending to Assuit University Children Hospital Not yet recruiting NCT03533322

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 29

Anatomical Context for Congenital Dyserythropoietic Anemia

MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

41
Skin, Liver, Spleen, Heart, Eye, Bone, Bone Marrow

Publications for Congenital Dyserythropoietic Anemia

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50) (show all 358)
# Title Authors PMID Year
1
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). 9 38
18166993 2008
2
Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia. 9 38
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-)]. 9 38
7507739 1994
4
Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS). 9 38
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. 9 38
2217175 1990
6
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant. 38
31400017 2019
7
Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation. 38
30679331 2019
8
KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells. 38
30876823 2019
9
Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors. 38
31126231 2019
10
Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report. 38
31183007 2019
11
[New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review]. 38
31104444 2019
12
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. 38
30872368 2019
13
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. 38
29668551 2019
14
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 38
31191338 2019
15
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. 38
29846281 2018
16
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. 38
30786798 2018
17
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 38
29936674 2018
18
Clinical and genetic features of congenital dyserythropoietic anemia (CDA). 38
29901818 2018
19
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. 38
29300242 2018
20
Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. 38
30065114 2018
21
Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia. 38
30002048 2018
22
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations. 38
29599085 2018
23
Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. 38
29885034 2018
24
[Congenital dyserythropoietic anemia type Ⅱ with rare SEC23B mutations: a case report]. 38
30032575 2018
25
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias. 38
29792684 2018
26
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. 38
29396846 2018
27
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 38
29779353 2018
28
Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. 38
29049846 2018
29
CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis. 38
27784127 2018
30
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. 38
29031773 2018
31
Rare anemias from the group of congenital bone marrow failure syndromes. 38
30193517 2018
32
Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations. 38
29047116 2018
33
Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers. 38
29075082 2017
34
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. 38
28879554 2017
35
[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II]. 38
29188620 2017
36
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis. 38
28755517 2017
37
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II. 38
28550189 2017
38
Heavy metal levels in patients with ineffective erythropoiesis. 38
28818403 2017
39
Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia. 38
28319077 2017
40
A case of congenital dyserythropoietic anemia type IV. 38
28265383 2017
41
Distal limb anomalies in patients with congenital dyserythropoietic anemia. 38
27759939 2017
42
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. 38
27206021 2017
43
Expression and methylation data from SLE patient and healthy control blood samples subdivided with respect to ARID3a levels. 38
27656675 2016
44
An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations. 38
28361594 2016
45
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. 38
27548341 2016
46
[A case of genetically diagnosed congenital dyserythropoietic anemia]. 38
27806797 2016
47
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. 38
27540014 2016
48
Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases? 38
27708211 2016
49
Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia. 38
27960647 2016
50
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. 38
27342114 2016

Variations for Congenital Dyserythropoietic Anemia

ClinVar genetic disease variations for Congenital Dyserythropoietic Anemia:

6 (show top 50) (show all 135)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SEC23B NM_006363.6(SEC23B): c.1512T> C (p.Asn504=) single nucleotide variant Conflicting interpretations of pathogenicity rs138198461 20:18523663-18523663 20:18543019-18543019
2 SEC23B NM_006363.6(SEC23B): c.1503C> T (p.Ile501=) single nucleotide variant Conflicting interpretations of pathogenicity rs147036760 20:18523038-18523038 20:18542394-18542394
3 CDAN1 NM_138477.4(CDAN1): c.2872C> T (p.Leu958=) single nucleotide variant Conflicting interpretations of pathogenicity rs764432820 15:43020228-43020228 15:42728030-42728030
4 CDAN1 NM_138477.4(CDAN1): c.2463G> A (p.Gly821=) single nucleotide variant Conflicting interpretations of pathogenicity rs139809959 15:43021505-43021505 15:42729307-42729307
5 SEC23B NM_006363.6(SEC23B): c.816T> C (p.Ile272=) single nucleotide variant Conflicting interpretations of pathogenicity rs115177758 20:18506558-18506558 20:18525914-18525914
6 SEC23B NM_006363.6(SEC23B): c.773A> G (p.Gln258Arg) single nucleotide variant Uncertain significance rs534770840 20:18506515-18506515 20:18525871-18525871
7 CDAN1 NM_138477.4(CDAN1): c.1839G> A (p.Gly613=) single nucleotide variant Uncertain significance rs148994527 15:43023430-43023430 15:42731232-42731232
8 CDAN1 NM_138477.4(CDAN1): c.1740-10T> A single nucleotide variant Uncertain significance rs886051157 15:43023539-43023539 15:42731341-42731341
9 CDAN1 NM_138477.4(CDAN1): c.1322C> T (p.Ala441Val) single nucleotide variant Uncertain significance rs886051158 15:43026181-43026181 15:42733983-42733983
10 CDAN1 NM_138477.4(CDAN1): c.255G> A (p.Arg85=) single nucleotide variant Uncertain significance rs886051159 15:43028814-43028814 15:42736616-42736616
11 CDAN1 NM_138477.4(CDAN1): c.*788G> T single nucleotide variant Uncertain significance rs886051154 15:43015901-43015901 15:42723703-42723703
12 CDAN1 NM_138477.4(CDAN1): c.*775_*778AACA[1] short repeat Uncertain significance rs531320636 15:43015907-43015910 15:42723709-42723712
13 CDAN1 NM_138477.4(CDAN1): c.*249_*252GTTT[1] short repeat Uncertain significance rs767935615 15:43016433-43016436 15:42724235-42724238
14 CDAN1 NM_138477.4(CDAN1): c.*349A> G single nucleotide variant Uncertain significance rs886051156 15:43016340-43016340 15:42724142-42724142
15 CDAN1 NM_138477.4(CDAN1): c.*58G> A single nucleotide variant Uncertain significance rs567117839 15:43016631-43016631 15:42724433-42724433
16 CDAN1 NM_138477.4(CDAN1): c.3559-11A> G single nucleotide variant Uncertain significance rs375128684 15:43016825-43016825 15:42724627-42724627
17 CDAN1 NM_138477.4(CDAN1): c.2984G> A (p.Arg995His) single nucleotide variant Uncertain significance rs369919247 15:43019931-43019931 15:42727733-42727733
18 CDAN1 NM_138477.4(CDAN1): c.2700G> A (p.Gln900=) single nucleotide variant Uncertain significance rs61745640 15:43020954-43020954 15:42728756-42728756
19 CDAN1 NM_138477.4(CDAN1): c.3590A> T (p.Asn1197Ile) single nucleotide variant Uncertain significance rs771780683 15:43016783-43016783 15:42724585-42724585
20 CDAN1 NM_138477.4(CDAN1): c.3204+5G> A single nucleotide variant Uncertain significance rs201125492 15:43018503-43018503 15:42726305-42726305
21 CDAN1 NM_138477.4(CDAN1): c.2805-11T> A single nucleotide variant Uncertain significance rs200767055 15:43020476-43020476 15:42728278-42728278
22 CDAN1 NM_138477.4(CDAN1): c.2428G> C (p.Ala810Pro) single nucleotide variant Uncertain significance rs747975571 15:43021540-43021540 15:42729342-42729342
23 CDAN1 NM_138477.4(CDAN1): c.1058-11T> G single nucleotide variant Uncertain significance rs372671684 15:43027387-43027387 15:42735189-42735189
24 SEC23B NM_006363.6(SEC23B): c.-301G> A single nucleotide variant Uncertain significance rs886056521 20:18488330-18488330 20:18507686-18507686
25 SEC23B NM_006363.6(SEC23B): c.1809A> G (p.Ser603=) single nucleotide variant Uncertain significance rs139882548 20:18529318-18529318 20:18548674-18548674
26 SEC23B NM_006363.6(SEC23B): c.*292T> G single nucleotide variant Uncertain significance rs886056526 20:18541676-18541676 20:18561032-18561032
27 SEC23B NM_006363.6(SEC23B): c.*448C> T single nucleotide variant Uncertain significance rs550932027 20:18541832-18541832 20:18561188-18561188
28 SEC23B NM_006363.6(SEC23B): c.85C> T (p.Leu29=) single nucleotide variant Uncertain significance rs886056525 20:18491564-18491564 20:18510920-18510920
29 SEC23B NM_006363.6(SEC23B): c.1198T> C (p.Phe400Leu) single nucleotide variant Uncertain significance rs142461689 20:18511412-18511412 20:18530768-18530768
30 SEC23B NM_006363.6(SEC23B): c.*494T> C single nucleotide variant Uncertain significance rs561479544 20:18541878-18541878 20:18561234-18561234
31 KLF1 NM_006563.4(KLF1): c.*254C> T single nucleotide variant Uncertain significance rs564687827 19:12995445-12995445 19:12884631-12884631
32 KLF1 NM_006563.4(KLF1): c.*263C> T single nucleotide variant Uncertain significance rs867980189 19:12995436-12995436 19:12884622-12884622
33 KLF1 NM_006563.4(KLF1): c.690C> T (p.Ala230=) single nucleotide variant Uncertain significance rs775669419 19:12996354-12996354 19:12885540-12885540
34 KLF1 NM_006563.4(KLF1): c.353G> A (p.Gly118Asp) single nucleotide variant Uncertain significance rs886054237 19:12996691-12996691 19:12885877-12885877
35 SEC23B NM_006363.6(SEC23B): c.-80G> A single nucleotide variant Uncertain significance rs886056524 20:18488551-18488551 20:18507907-18507907
36 SEC23B NM_006363.6(SEC23B): c.-94C> G single nucleotide variant Uncertain significance rs886056523 20:18488537-18488537 20:18507893-18507893
37 SEC23B NM_006363.6(SEC23B): c.-76G> C single nucleotide variant Uncertain significance rs373348732 20:18488555-18488555 20:18507911-18507911
38 SEC23B NM_006363.6(SEC23B): c.-52T> G single nucleotide variant Uncertain significance rs191103191 20:18488579-18488579 20:18507935-18507935
39 KLF1 NM_006563.4(KLF1): c.255G> A (p.Pro85=) single nucleotide variant Uncertain significance rs886054238 19:12996789-12996789 19:12885975-12885975
40 SEC23B NM_006363.6(SEC23B): c.1483C> T (p.Arg495Cys) single nucleotide variant Uncertain significance rs768018657 20:18523018-18523018 20:18542374-18542374
41 CDAN1 NM_138477.4(CDAN1): c.-4C> G single nucleotide variant Uncertain significance rs776319103 15:43029304-43029304 15:42737106-42737106
42 CDAN1 NM_138477.4(CDAN1): c.-14G> A single nucleotide variant Uncertain significance rs190314153 15:43029314-43029314 15:42737116-42737116
43 KLF1 NM_006563.4(KLF1): c.478G> A (p.Glu160Lys) single nucleotide variant Uncertain significance rs772655521 19:12996566-12996566 19:12885752-12885752
44 SEC23B NM_006363.6(SEC23B): c.-394A> C single nucleotide variant Uncertain significance rs561908920 20:18488237-18488237 20:18507593-18507593
45 SEC23B NM_006363.6(SEC23B): c.-186G> T single nucleotide variant Uncertain significance rs138178711 20:18488445-18488445 20:18507801-18507801
46 SEC23B NM_006363.6(SEC23B): c.2227C> T (p.Pro743Ser) single nucleotide variant Uncertain significance rs375734554 20:18541307-18541307 20:18560663-18560663
47 SEC23B NM_006363.6(SEC23B): c.*493A> G single nucleotide variant Uncertain significance rs886056527 20:18541877-18541877 20:18561233-18561233
48 CDAN1 NM_138477.4(CDAN1): c.*827A> G single nucleotide variant Uncertain significance rs573659922 15:43015862-43015862 15:42723664-42723664
49 CDAN1 NM_138477.4(CDAN1): c.*223G> C single nucleotide variant Uncertain significance rs568387944 15:43016466-43016466 15:42724268-42724268
50 CDAN1 NM_138477.4(CDAN1): c.3142G> A (p.Val1048Ile) single nucleotide variant Uncertain significance rs745816995 15:43018570-43018570 15:42726372-42726372

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 10.3 KLF1 GATA1

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 SEC23B SEC23A MAN2A1 CD55
2 ER to Golgi transport vesicle membrane GO:0012507 9.16 SEC23B SEC23A
3 COPII vesicle coat GO:0030127 8.62 SEC23B SEC23A

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 9.33 SEC23B SEC23A CD55
2 erythrocyte differentiation GO:0030218 9.26 KLF1 GATA1
3 cargo loading into COPII-coated vesicle GO:0090110 8.96 SEC23B SEC23A
4 COPII-coated vesicle budding GO:0090114 8.62 SEC23B SEC23A

Sources for Congenital Dyserythropoietic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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