CDA
MCID: CNG003
MIFTS: 50

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
Anemia, Dyserythropoietic, Congenital 25 43
Dyserythropoietic Anemia, Congenital 74 52
Cda 25 58
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 anemia, dyserythropoietic, congenital, is related to anemia, congenital dyserythropoietic, type ia and anemia, congenital dyserythropoietic, type iii. 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 Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, 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 167)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type ia 34.6 CDAN1 C15orf41
2 anemia, congenital dyserythropoietic, type iii 34.4 KIF23 CDAN3
3 hemosiderosis 30.9 HFE HAMP EPO
4 erythroleukemia, familial 30.2 KLF1 GATA1 EPO
5 neonatal anemia 30.2 RHD KLF1 EPO
6 hemolytic anemia 30.1 RHD KLF1 EPO EPB42 CD55
7 hemochromatosis, type 1 30.0 HFE HAMP GDF15 ERFE EPO
8 hereditary elliptocytosis 29.9 SEC23B RHD EPB42
9 deficiency anemia 29.8 RHD KLF1 HFE HAMP GATA1 ERFE
10 iron metabolism disease 29.8 HFE HAMP EPO
11 iron deficiency anemia 29.7 HFE HAMP EPO
12 hemoglobinopathy 29.6 KLF1 HFE HAMP EPO
13 thalassemia 29.3 KLF1 HFE HAMP GDF15 GATA1 ERFE
14 hereditary spherocytosis 29.2 SEC23B RHD KLF1 HFE GATA1 EPB42
15 myelodysplastic syndrome 28.9 HFE HAMP GATA1 EPO CD55
16 beta-thalassemia 28.9 RHD KLF1 HFE HAMP GDF15 GATA1
17 anemia, congenital dyserythropoietic, type ii 12.6
18 anemia, congenital dyserythropoietic, type iv 12.6
19 majeed syndrome 12.5
20 anemia, congenital dyserythropoietic, type ib 12.3
21 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.0
22 lung cancer 11.9
23 chronic recurrent multifocal osteomyelitis 11.7
24 beta-thalassemia, dominant inclusion body type 11.6
25 leukemia, acute myeloid 11.6
26 corneal dystrophy, avellino type 11.5
27 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.4
28 leukemia, acute lymphoblastic 11.4
29 hematologic cancer 11.4
30 pancreatic adenocarcinoma 11.4
31 immunodeficiency with hyper-igm, type 2 11.2
32 rare hereditary hemochromatosis 10.8
33 macrocytic anemia 10.7
34 splenomegaly 10.6
35 autosomal recessive disease 10.5
36 hydrops fetalis, nonimmune 10.5
37 gallbladder disease 1 10.4
38 cholelithiasis 10.4
39 thrombocytopenia 10.4
40 bilirubin metabolic disorder 10.4
41 leukemia, chronic lymphocytic 10.4
42 lymphocytic leukemia 10.4
43 chromosome 2q35 duplication syndrome 10.3
44 pulmonary hypertension 10.3
45 chromophobe renal cell carcinoma 10.3
46 renal oncocytoma 10.3
47 gilbert syndrome 10.3
48 liver cirrhosis 10.3
49 angioid streaks 10.2
50 neutropenia 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 CD44 CD55 EPB42 EPO ERFE GATA1
2 homeostasis/metabolism MP:0005376 10.1 CD44 EPB42 EPO ERFE GATA1 GDF15
3 immune system MP:0005387 9.85 CD44 EPB42 EPO GATA1 HFE KLF1
4 liver/biliary system MP:0005370 9.61 CD44 EPO ERFE GATA1 GDF15 HFE
5 mortality/aging MP:0010768 9.44 C15orf41 CD44 CDAN1 EPO GATA1 GDF15

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
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3 Gastrointestinal Agents Phase 4
4 Anti-Ulcer Agents Phase 4
5 Proton Pump Inhibitors Phase 4
6 Antacids 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:

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

Publications for Congenital Dyserythropoietic Anemia

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50) (show all 369)
# 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-)]. 54 61
7507739 1994
4
Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS). 54 61
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
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
7
Managing the Unusual Causes of Fetal Anemia. 61
31505487 2020
8
Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation. 61
31760486 2020
9
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. 61
30872368 2019
10
Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis. 61
31529567 2019
11
A Krüppel-like factor 1 (KLF1) mutation associated with severe congenital dyserythropoietic anemia alters its DNA-binding specificity. 61
31818881 2019
12
E. coli Monomicrobial Necrotizing Fasciitis in an Iron-Overloaded Adolescent. 61
31815828 2019
13
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant. 61
31400017 2019
14
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 61
31727123 2019
15
Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature. 61
31593005 2019
16
Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report. 61
31598604 2019
17
Caution is Needed in Interpreting Hemoglobin A1c Levels in the Muslim Bedouin Population of Southern Israel. 61
31474018 2019
18
Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation. 61
30679331 2019
19
KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells. 61
30876823 2019
20
Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors. 61
31126231 2019
21
Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report. 61
31183007 2019
22
[New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review]. 61
31104444 2019
23
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. 61
29668551 2019
24
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia. 61
31572203 2019
25
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein. 61
31191338 2019
26
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
27
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. 61
30786798 2018
28
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 61
29936674 2018
29
Clinical and genetic features of congenital dyserythropoietic anemia (CDA). 61
29901818 2018
30
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. 61
29300242 2018
31
Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. 61
30065114 2018
32
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations. 61
29599085 2018
33
Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia. 61
30002048 2018
34
Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias. 61
29792684 2018
35
[Congenital dyserythropoietic anemia type Ⅱ with rare SEC23B mutations: a case report]. 61
30032575 2018
36
Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. 61
29885034 2018
37
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. 61
29396846 2018
38
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 61
29779353 2018
39
Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. 61
29049846 2018
40
CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis. 61
27784127 2018
41
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. 61
29031773 2018
42
Rare anemias from the group of congenital bone marrow failure syndromes. 61
30193517 2018
43
Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations. 61
29047116 2018
44
[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II]. 61
29188620 2017
45
Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers. 61
29075082 2017
46
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. 61
28879554 2017
47
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis. 61
28755517 2017
48
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II. 61
28550189 2017
49
Heavy metal levels in patients with ineffective erythropoiesis. 61
28818403 2017
50
Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia. 61
28319077 2017

Variations for Congenital Dyserythropoietic Anemia

ClinVar genetic disease variations for Congenital Dyserythropoietic Anemia:

6 (show top 50) (show all 136) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 SEC23B NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)SNV Conflicting interpretations of pathogenicity 337792 rs142461689 20:18511412-18511412 20:18530768-18530768
3 SEC23B NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)SNV Conflicting interpretations of pathogenicity 337797 rs138198461 20:18523663-18523663 20:18543019-18543019
4 SEC23B NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)SNV Conflicting interpretations of pathogenicity 337798 rs139882548 20:18529318-18529318 20:18548674-18548674
5 CDAN1 NM_138477.4(CDAN1):c.2869-5C>TSNV Conflicting interpretations of pathogenicity 315926 rs370304543 15:43020236-43020236 15:42728038-42728038
6 CDAN1 NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser)SNV Conflicting interpretations of pathogenicity 315943 rs139202766 15:43023163-43023163 15:42730965-42730965
7 CDAN1 NM_138477.4(CDAN1):c.1524A>G (p.Gln508=)SNV Conflicting interpretations of pathogenicity 315947 rs147500837 15:43024540-43024540 15:42732342-42732342
8 CDAN1 NM_138477.4(CDAN1):c.2008-8C>TSNV Conflicting interpretations of pathogenicity 315940 rs201733620 15:43022970-43022970 15:42730772-42730772
9 SEC23B NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)SNV Conflicting interpretations of pathogenicity 337794 rs767683935 20:18513373-18513373 20:18532729-18532729
10 SEC23B NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)SNV Conflicting interpretations of pathogenicity 337795 rs146587686 20:18516317-18516317 20:18535673-18535673
11 SEC23B NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)SNV Conflicting interpretations of pathogenicity 198541 rs534770840 20:18506515-18506515 20:18525871-18525871
12 SEC23B NM_006363.6(SEC23B):c.1503C>T (p.Ile501=)SNV Conflicting interpretations of pathogenicity 95383 rs147036760 20:18523038-18523038 20:18542394-18542394
13 CDAN1 NM_138477.4(CDAN1):c.2872C>T (p.Leu958=)SNV Conflicting interpretations of pathogenicity 262373 rs764432820 15:43020228-43020228 15:42728030-42728030
14 CDAN1 NM_138477.4(CDAN1):c.2463G>A (p.Gly821=)SNV Conflicting interpretations of pathogenicity 262372 rs139809959 15:43021505-43021505 15:42729307-42729307
15 SEC23B NM_006363.6(SEC23B):c.816T>C (p.Ile272=)SNV Conflicting interpretations of pathogenicity 259967 rs115177758 20:18506558-18506558 20:18525914-18525914
16 CDAN1 NM_138477.4(CDAN1):c.2700G>A (p.Gln900=)SNV Conflicting interpretations of pathogenicity 315930 rs61745640 15:43020954-43020954 15:42728756-42728756
17 CDAN1 NM_138477.4(CDAN1):c.1839G>A (p.Gly613=)SNV Conflicting interpretations of pathogenicity 315944 rs148994527 15:43023430-43023430 15:42731232-42731232
18 CDAN1 NM_138477.4(CDAN1):c.3204+5G>ASNV Conflicting interpretations of pathogenicity 315921 rs201125492 15:43018503-43018503 15:42726305-42726305
19 CDAN1 NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser)SNV Conflicting interpretations of pathogenicity 315953 rs543791953 15:43028813-43028813 15:42736615-42736615
20 CDAN1 NM_138477.4(CDAN1):c.*722G>ASNV Uncertain significance 315909 rs528323093 15:43015967-43015967 15:42723769-42723769
21 CDAN1 NM_138477.4(CDAN1):c.*600A>GSNV Uncertain significance 315910 rs886051155 15:43016089-43016089 15:42723891-42723891
22 CDAN1 NM_138477.4(CDAN1):c.2361G>A (p.Ala787=)SNV Uncertain significance 315936 rs377342875 15:43021812-43021812 15:42729614-42729614
23 CDAN1 NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)SNV Uncertain significance 315938 rs181448047 15:43022911-43022911 15:42730713-42730713
24 CDAN1 NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly)SNV Uncertain significance 315945 rs148074362 15:43023503-43023503 15:42731305-42731305
25 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
26 CDAN1 NM_138477.4(CDAN1):c.773+14G>ASNV Uncertain significance 315952 rs543228844 15:43028059-43028059 15:42735861-42735861
27 SEC23B NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser)SNV Uncertain significance 337799 rs375734554 20:18541307-18541307 20:18560663-18560663
28 SEC23B NM_032986.4(SEC23B):c.-91A>CSNV Uncertain significance 337778 rs561908920 20:18488237-18488237 20:18507593-18507593
29 SEC23B NM_032986.4(SEC23B):c.-15+132G>TSNV Uncertain significance 337782 rs138178711 20:18488445-18488445 20:18507801-18507801
30 SEC23B NM_006363.6(SEC23B):c.*493A>GSNV Uncertain significance 337803 rs886056527 20:18541877-18541877 20:18561233-18561233
31 CDAN1 NM_138477.4(CDAN1):c.*827A>GSNV Uncertain significance 315906 rs573659922 15:43015862-43015862 15:42723664-42723664
32 CDAN1 NM_138477.4(CDAN1):c.*223G>CSNV Uncertain significance 315914 rs568387944 15:43016466-43016466 15:42724268-42724268
33 CDAN1 NM_138477.4(CDAN1):c.2805-11T>ASNV Uncertain significance 315928 rs200767055 15:43020476-43020476 15:42728278-42728278
34 CDAN1 NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro)SNV Uncertain significance 315934 rs747975571 15:43021540-43021540 15:42729342-42729342
35 CDAN1 NM_138477.4(CDAN1):c.1058-11T>GSNV Uncertain significance 315950 rs372671684 15:43027387-43027387 15:42735189-42735189
36 CDAN1 NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val)SNV Uncertain significance 315949 rs886051158 15:43026181-43026181 15:42733983-42733983
37 CDAN1 NM_138477.4(CDAN1):c.255G>A (p.Arg85=)SNV Uncertain significance 315954 rs886051159 15:43028814-43028814 15:42736616-42736616
38 CDAN1 NM_138477.4(CDAN1):c.*788G>TSNV Uncertain significance 315907 rs886051154 15:43015901-43015901 15:42723703-42723703
39 CDAN1 NM_138477.4(CDAN1):c.*775_*778AACA[1]short repeat Uncertain significance 315908 rs531320636 15:43015907-43015910 15:42723709-42723712
40 CDAN1 NM_138477.4(CDAN1):c.*249_*252GTTT[1]short repeat Uncertain significance 315913 rs767935615 15:43016433-43016436 15:42724235-42724238
41 CDAN1 NM_138477.4(CDAN1):c.-4C>GSNV Uncertain significance 315958 rs776319103 15:43029304-43029304 15:42737106-42737106
42 CDAN1 NM_138477.4(CDAN1):c.-14G>ASNV Uncertain significance 315959 rs190314153 15:43029314-43029314 15:42737116-42737116
43 CDAN1 NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile)SNV Uncertain significance 315918 rs771780683 15:43016783-43016783 15:42724585-42724585
44 CDAN1 NM_138477.4(CDAN1):c.1740-10T>ASNV Uncertain significance 315946 rs886051157 15:43023539-43023539 15:42731341-42731341
45 CDAN1 NM_138477.4(CDAN1):c.*349A>GSNV Uncertain significance 315912 rs886051156 15:43016340-43016340 15:42724142-42724142
46 CDAN1 NM_138477.4(CDAN1):c.*58G>ASNV Uncertain significance 315917 rs567117839 15:43016631-43016631 15:42724433-42724433
47 CDAN1 NM_138477.4(CDAN1):c.3559-11A>GSNV Uncertain significance 315919 rs375128684 15:43016825-43016825 15:42724627-42724627
48 CDAN1 NM_138477.4(CDAN1):c.2984G>A (p.Arg995His)SNV Uncertain significance 315924 rs369919247 15:43019931-43019931 15:42727733-42727733
49 CDAN1 NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile)SNV Uncertain significance 315923 rs745816995 15:43018570-43018570 15:42726372-42726372
50 KLF1 NM_006563.4(KLF1):c.*254C>TSNV Uncertain significance 328310 rs564687827 19:12995445-12995445 19:12884631-12884631

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 11.33 EPO CD55 CD44
2 10.48 KLF1 GATA1 EPO
3 9.8 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 Golgi membrane GO:0000139 9.35 SEC23B SEC23A MGAT2 MAN2A1 CD55
2 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 response to vitamin A GO:0033189 9.48 HAMP EPO
2 response to iron ion GO:0010039 9.46 HFE HAMP
3 erythrocyte maturation GO:0043249 9.43 EPO EPB42
4 cellular iron ion homeostasis GO:0006879 9.43 HFE HAMP ERFE
5 cargo loading into COPII-coated vesicle GO:0090110 9.4 SEC23B SEC23A
6 multicellular organismal iron ion homeostasis GO:0060586 9.37 HFE HAMP
7 acute-phase response GO:0006953 9.33 HFE HAMP EPO
8 COPII-coated vesicle budding GO:0090114 9.32 SEC23B SEC23A
9 response to iron ion starvation GO:1990641 8.96 HFE HAMP
10 erythrocyte differentiation GO:0030218 8.92 KLF1 GATA1 EPO C15orf41

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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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