MCID: CNG003
MIFTS: 42

Congenital Dyserythropoietic Anemia

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 77 54 26 30 6 15 74
Anemia, Dyserythropoietic, Congenital 26 45
Dyserythropoietic Anemia, Congenital 77 54
Congenital Dyshaematopoietic Anaemia 12
Anemia Dyserythropoietic Congenital 56
Cda 26

Classifications:



External Ids:

Disease Ontology 12 DOID:1338
MeSH 45 D000742
NCIt 51 C84646
SNOMED-CT 69 52951008
ICD10 34 D64.4
UMLS 74 C0002876

Summaries for Congenital Dyserythropoietic Anemia

NIH Rare Diseases : 54 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.

MalaCards based summary : Congenital Dyserythropoietic Anemia, also known as anemia, dyserythropoietic, congenital, is related to anemia, congenital dyserythropoietic, type ia and congenital hemolytic anemia. An important gene associated with Congenital Dyserythropoietic Anemia is CDAN1 (Codanin 1), and among its related pathways/superpathways is Sterol Regulatory Element-Binding Proteins (SREBP) signalling. The drugs Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver.

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.

Genetics Home Reference : 26 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.

Wikipedia : 77 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 81)
# Related Disease Score Top Affiliating Genes
1 anemia, congenital dyserythropoietic, type ia 33.9 C15orf41 CDAN1
2 congenital hemolytic anemia 30.3 KLF1 SEC23B
3 hereditary spherocytosis 30.0 KLF1 RHD SEC23B
4 anemia, congenital dyserythropoietic, type ii 12.4
5 majeed syndrome 12.4
6 anemia, congenital dyserythropoietic, type iii 12.4
7 anemia, congenital dyserythropoietic, type iv 12.4
8 anemia, congenital dyserythropoietic, type ib 12.1
9 corneal dystrophy, avellino type 11.8
10 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.5
11 beta-thalassemia, dominant inclusion body type 11.5
12 dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 11.2
13 immunodeficiency with hyper-igm, type 2 11.2
14 hematologic cancer 11.2
15 central nervous system leukemia 11.2
16 extraosseous osteosarcoma 11.2
17 echolalia 11.2
18 refractory hairy cell leukemia 11.2
19 refractory hematologic cancer 11.2
20 deficiency anemia 10.7
21 thalassemia 10.4
22 hemosiderosis 10.4
23 hemochromatosis, type 1 10.3
24 beta-thalassemia 10.3
25 lymphatic malformation 7 10.3
26 juvenile hereditary hemochromatosis 10.3
27 fetal edema 10.3
28 hydrops fetalis 10.3
29 hematopoietic stem cell transplantation 10.3
30 hemolytic anemia 10.3
31 gilbert syndrome 10.2
32 chronic recurrent multifocal osteomyelitis 10.2
33 pulmonary hypertension 10.2
34 osteomyelitis 10.2
35 chromophobe renal cell carcinoma 10.2
36 renal oncocytoma 10.2
37 acrodysostosis 10.1 C15orf41 CDAN1
38 breast cancer 10.1
39 angioid streaks 10.1
40 myeloid leukemia 10.1
41 fibromuscular dysplasia 10.0
42 piebald trait 10.0
43 dubin-johnson syndrome 10.0
44 pyruvate kinase deficiency of red cells 10.0
45 neutrophilic dermatosis, acute febrile 10.0
46 acute erythroid leukemia 10.0
47 ectodermal dysplasia 10.0
48 leukemia 10.0
49 liver disease 10.0
50 pulmonary alveolar proteinosis 10.0

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



Diseases related to Congenital Dyserythropoietic Anemia

Symptoms & Phenotypes for Congenital Dyserythropoietic Anemia

Drugs & Therapeutics for Congenital Dyserythropoietic Anemia

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
2 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 The Congenital Dyserythropoietic Anemia Registry (CDAR) Recruiting NCT02964494

Search NIH Clinical Center for Congenital Dyserythropoietic Anemia

Cochrane evidence based reviews: anemia, dyserythropoietic, congenital

Genetic Tests for Congenital Dyserythropoietic Anemia

Genetic tests related to Congenital Dyserythropoietic Anemia:

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia 30

Anatomical Context for Congenital Dyserythropoietic Anemia

MalaCards organs/tissues related to Congenital Dyserythropoietic Anemia:

42
Skin, Bone, Liver, Bone Marrow, Spleen, Heart, Eye

Publications for Congenital Dyserythropoietic Anemia

Articles related to Congenital Dyserythropoietic Anemia:

(show top 50) (show all 211)
# Title Authors Year
1
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. ( 30872368 )
2019
2
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. ( 30786798 )
2019
3
Stem cell transplantation for congenital dyserythropoietic anemia. An analysis from the European society for blood and marrow transplantation. ( 30679331 )
2019
4
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. ( 29668551 )
2019
5
KLF1 Mutation E325K Induces Cell-cycle Arrest in Erythroid Cells Differentiated from Congenital Dyserythropoietic Anemia (CDA) Patient-specific Induced Pluripotent Stem Cells. ( 30876823 )
2019
6
Clinical and genetic features of congenital dyserythropoietic anemia (CDA). ( 29901818 )
2018
7
Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia. ( 30002048 )
2018
8
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. ( 29936674 )
2018
9
Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. ( 29885034 )
2018
10
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. ( 29846281 )
2018
11
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations. ( 29599085 )
2018
12
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. ( 29300242 )
2018
13
Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. ( 29049846 )
2018
14
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. ( 29031773 )
2018
15
CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis. ( 27784127 )
2018
16
[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II]. ( 29188620 )
2017
17
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. ( 28879554 )
2017
18
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis. ( 28755517 )
2017
19
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II. ( 28550189 )
2017
20
Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia. ( 28319077 )
2017
21
A case of congenital dyserythropoietic anemia type IV. ( 28265383 )
2017
22
Distal limb anomalies in patients with congenital dyserythropoietic anemia. ( 27759939 )
2017
23
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. ( 27206021 )
2017
24
Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers. ( 29075082 )
2017
25
Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia. ( 27960647 )
2016
26
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. ( 27548341 )
2016
27
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. ( 27540014 )
2016
28
Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha. ( 27408411 )
2016
29
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. ( 27342114 )
2016
30
New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia. ( 27408412 )
2016
31
Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene. ( 25912935 )
2015
32
Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India. ( 25692053 )
2015
33
Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II. ( 25418799 )
2015
34
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings. ( 24801240 )
2015
35
Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III. ( 25900788 )
2015
36
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. ( 25044164 )
2014
37
A novel variant mutation for congenital dyserythropoietic anemia, type II. ( 24801741 )
2014
38
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II. ( 24724984 )
2014
39
Congenital dyserythropoietic anemia type I: report of a case. ( 24554823 )
2014
40
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. ( 24420417 )
2014
41
Congenital dyserythropoietic anemia in China: a case report from two families and a review. ( 24196372 )
2014
42
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. ( 23935019 )
2013
43
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. ( 23719252 )
2013
44
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. ( 23716552 )
2013
45
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. ( 23605369 )
2013
46
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. ( 23570799 )
2013
47
Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. ( 23522491 )
2013
48
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. ( 23453696 )
2013
49
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. ( 23095116 )
2013
50
Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report. ( 22953144 )
2012

Variations for Congenital Dyserythropoietic Anemia

ClinVar genetic disease variations for Congenital Dyserythropoietic Anemia:

6 (show top 50) (show all 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDAN1 NM_138477.2(CDAN1): c.2408-3C> T single nucleotide variant Benign rs12905385 GRCh37 Chromosome 15, 43021563: 43021563
2 CDAN1 NM_138477.2(CDAN1): c.2408-3C> T single nucleotide variant Benign rs12905385 GRCh38 Chromosome 15, 42729365: 42729365
3 CDAN1 NM_138477.4(CDAN1): c.2352+8C> T single nucleotide variant Benign rs12594483 GRCh37 Chromosome 15, 43021986: 43021986
4 CDAN1 NM_138477.4(CDAN1): c.2352+8C> T single nucleotide variant Benign rs12594483 GRCh38 Chromosome 15, 42729788: 42729788
5 CDAN1 NM_138477.2(CDAN1): c.1969G> A (p.Gly657Ser) single nucleotide variant Benign/Likely benign rs61747153 GRCh38 Chromosome 15, 42730963: 42730963
6 CDAN1 NM_138477.2(CDAN1): c.1969G> A (p.Gly657Ser) single nucleotide variant Benign/Likely benign rs61747153 GRCh37 Chromosome 15, 43023161: 43023161
7 CDAN1 NM_138477.2(CDAN1): c.816C> A (p.Thr272=) single nucleotide variant Benign/Likely benign rs76599133 GRCh38 Chromosome 15, 42735637: 42735637
8 CDAN1 NM_138477.2(CDAN1): c.816C> A (p.Thr272=) single nucleotide variant Benign/Likely benign rs76599133 GRCh37 Chromosome 15, 43027835: 43027835
9 CDAN1 NM_138477.2(CDAN1): c.558C> G (p.Pro186=) single nucleotide variant Benign/Likely benign rs12594325 GRCh38 Chromosome 15, 42736313: 42736313
10 CDAN1 NM_138477.2(CDAN1): c.558C> G (p.Pro186=) single nucleotide variant Benign/Likely benign rs12594325 GRCh37 Chromosome 15, 43028511: 43028511
11 CDAN1 NM_138477.4(CDAN1): c.477C> T (p.Pro159=) single nucleotide variant Benign rs7167392 GRCh37 Chromosome 15, 43028592: 43028592
12 CDAN1 NM_138477.4(CDAN1): c.477C> T (p.Pro159=) single nucleotide variant Benign rs7167392 GRCh38 Chromosome 15, 42736394: 42736394
13 CDAN1 NM_138477.2(CDAN1): c.443C> T (p.Ala148Val) single nucleotide variant Benign rs73410959 GRCh37 Chromosome 15, 43028626: 43028626
14 CDAN1 NM_138477.2(CDAN1): c.3590A> T (p.Asn1197Ile) single nucleotide variant Uncertain significance rs771780683 GRCh37 Chromosome 15, 43016783: 43016783
15 CDAN1 NM_138477.2(CDAN1): c.3590A> T (p.Asn1197Ile) single nucleotide variant Uncertain significance rs771780683 GRCh38 Chromosome 15, 42724585: 42724585
16 CDAN1 NM_138477.2(CDAN1): c.3204+5G> A single nucleotide variant Uncertain significance rs201125492 GRCh38 Chromosome 15, 42726305: 42726305
17 CDAN1 NM_138477.2(CDAN1): c.3204+5G> A single nucleotide variant Uncertain significance rs201125492 GRCh37 Chromosome 15, 43018503: 43018503
18 CDAN1 NM_138477.4(CDAN1): c.2805-11T> A single nucleotide variant Uncertain significance rs200767055 GRCh38 Chromosome 15, 42728278: 42728278
19 CDAN1 NM_138477.4(CDAN1): c.2805-11T> A single nucleotide variant Uncertain significance rs200767055 GRCh37 Chromosome 15, 43020476: 43020476
20 CDAN1 NM_138477.2(CDAN1): c.2428G> C (p.Ala810Pro) single nucleotide variant Uncertain significance rs747975571 GRCh38 Chromosome 15, 42729342: 42729342
21 CDAN1 NM_138477.2(CDAN1): c.2428G> C (p.Ala810Pro) single nucleotide variant Uncertain significance rs747975571 GRCh37 Chromosome 15, 43021540: 43021540
22 CDAN1 NM_138477.2(CDAN1): c.1058-11T> G single nucleotide variant Uncertain significance rs372671684 GRCh37 Chromosome 15, 43027387: 43027387
23 CDAN1 NM_138477.2(CDAN1): c.1058-11T> G single nucleotide variant Uncertain significance rs372671684 GRCh38 Chromosome 15, 42735189: 42735189
24 CDAN1 NM_138477.2(CDAN1): c.157C> T (p.Leu53=) single nucleotide variant Likely benign rs186189866 GRCh37 Chromosome 15, 43028912: 43028912
25 CDAN1 NM_138477.2(CDAN1): c.157C> T (p.Leu53=) single nucleotide variant Likely benign rs186189866 GRCh38 Chromosome 15, 42736714: 42736714
26 CDAN1 NM_138477.2(CDAN1): c.-4C> G single nucleotide variant Uncertain significance rs776319103 GRCh37 Chromosome 15, 43029304: 43029304
27 CDAN1 NM_138477.2(CDAN1): c.-4C> G single nucleotide variant Uncertain significance rs776319103 GRCh38 Chromosome 15, 42737106: 42737106
28 CDAN1 NM_138477.4(CDAN1): c.-14G> A single nucleotide variant Uncertain significance rs190314153 GRCh37 Chromosome 15, 43029314: 43029314
29 CDAN1 NM_138477.4(CDAN1): c.-14G> A single nucleotide variant Uncertain significance rs190314153 GRCh38 Chromosome 15, 42737116: 42737116
30 SEC23B NM_006363.6(SEC23B): c.1335G> A (p.Thr445=) single nucleotide variant Uncertain significance rs146587686 GRCh37 Chromosome 20, 18516317: 18516317
31 SEC23B NM_006363.6(SEC23B): c.1335G> A (p.Thr445=) single nucleotide variant Uncertain significance rs146587686 GRCh38 Chromosome 20, 18535673: 18535673
32 SEC23B NM_006363.6(SEC23B): c.1299G> A (p.Pro433=) single nucleotide variant Uncertain significance rs767683935 GRCh37 Chromosome 20, 18513373: 18513373
33 SEC23B NM_006363.6(SEC23B): c.1299G> A (p.Pro433=) single nucleotide variant Uncertain significance rs767683935 GRCh38 Chromosome 20, 18532729: 18532729
34 SEC23B NM_006363.6(SEC23B): c.301A> G (p.Ile101Val) single nucleotide variant Uncertain significance rs754320262 GRCh38 Chromosome 20, 18515671: 18515671
35 SEC23B NM_006363.6(SEC23B): c.301A> G (p.Ile101Val) single nucleotide variant Uncertain significance rs754320262 GRCh37 Chromosome 20, 18496315: 18496315
36 SEC23B NM_006363.6(SEC23B): c.-8T> C single nucleotide variant Uncertain significance rs766083236 GRCh38 Chromosome 20, 18510828: 18510828
37 SEC23B NM_006363.6(SEC23B): c.-8T> C single nucleotide variant Uncertain significance rs766083236 GRCh37 Chromosome 20, 18491472: 18491472
38 SEC23B NM_006363.6(SEC23B): c.-57G> C single nucleotide variant Likely benign rs113396443 GRCh38 Chromosome 20, 18507930: 18507930
39 SEC23B NM_006363.6(SEC23B): c.-57G> C single nucleotide variant Likely benign rs113396443 GRCh37 Chromosome 20, 18488574: 18488574
40 SEC23B NM_006363.6(SEC23B): c.-283C> T single nucleotide variant Uncertain significance rs886056522 GRCh38 Chromosome 20, 18507704: 18507704
41 SEC23B NM_006363.6(SEC23B): c.-283C> T single nucleotide variant Uncertain significance rs886056522 GRCh37 Chromosome 20, 18488348: 18488348
42 KLF1 NM_006563.4(KLF1): c.606G> A (p.Gly202=) single nucleotide variant Uncertain significance rs886054236 GRCh37 Chromosome 19, 12996438: 12996438
43 KLF1 NM_006563.4(KLF1): c.606G> A (p.Gly202=) single nucleotide variant Uncertain significance rs886054236 GRCh38 Chromosome 19, 12885624: 12885624
44 KLF1 NM_006563.4(KLF1): c.*311A> G single nucleotide variant Uncertain significance rs767532783 GRCh38 Chromosome 19, 12884574: 12884574
45 KLF1 NM_006563.4(KLF1): c.*311A> G single nucleotide variant Uncertain significance rs767532783 GRCh37 Chromosome 19, 12995388: 12995388
46 KLF1 NM_006563.4(KLF1): c.*367C> G single nucleotide variant Likely benign rs375799978 GRCh38 Chromosome 19, 12884518: 12884518
47 KLF1 NM_006563.4(KLF1): c.*367C> G single nucleotide variant Likely benign rs375799978 GRCh37 Chromosome 19, 12995332: 12995332
48 CDAN1 NM_138477.4(CDAN1): c.57G> C (p.Val19=) single nucleotide variant Uncertain significance rs150418267 GRCh38 Chromosome 15, 42737046: 42737046
49 CDAN1 NM_138477.4(CDAN1): c.57G> C (p.Val19=) single nucleotide variant Uncertain significance rs150418267 GRCh37 Chromosome 15, 43029244: 43029244
50 CDAN1 NM_138477.2(CDAN1): c.237G> C (p.Ser79=) single nucleotide variant Uncertain significance rs180857061 GRCh38 Chromosome 15, 42736634: 42736634

Expression for Congenital Dyserythropoietic Anemia

Search GEO for disease gene expression data for Congenital Dyserythropoietic Anemia.

Pathways for Congenital Dyserythropoietic Anemia

Pathways related to Congenital Dyserythropoietic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 SEC23A SEC23B

GO Terms for Congenital Dyserythropoietic Anemia

Cellular components related to Congenital Dyserythropoietic Anemia according to GeneCards Suite gene sharing:

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

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.33 CD55 SEC23A SEC23B
2 cargo loading into COPII-coated vesicle GO:0090110 8.96 SEC23A SEC23B
3 COPII-coated vesicle budding GO:0090114 8.62 SEC23A SEC23B

Sources for Congenital Dyserythropoietic Anemia

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