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
Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease. ( 29668551 )
2019
2
Stem cell transplantation for congenital dyserythropoietic anemia. An analysis from the European society for blood and marrow transplantation. ( 30679331 )
2019
3
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. ( 30786798 )
2019
4
Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. ( 30872368 )
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
CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis. ( 27784127 )
2018
7
Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. ( 29031773 )
2018
8
Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. ( 29049846 )
2018
9
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity. ( 29300242 )
2018
10
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations. ( 29599085 )
2018
11
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
12
Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. ( 29885034 )
2018
13
Clinical and genetic features of congenital dyserythropoietic anemia (CDA). ( 29901818 )
2018
14
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. ( 29936674 )
2018
15
Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia. ( 30002048 )
2018
16
Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers. ( 29075082 )
2017
17
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. ( 27206021 )
2017
18
Distal limb anomalies in patients with congenital dyserythropoietic anemia. ( 27759939 )
2017
19
A case of congenital dyserythropoietic anemia type IV. ( 28265383 )
2017
20
Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia. ( 28319077 )
2017
21
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II. ( 28550189 )
2017
22
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis. ( 28755517 )
2017
23
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. ( 28879554 )
2017
24
[Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II]. ( 29188620 )
2017
25
New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia. ( 27408412 )
2016
26
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. ( 27342114 )
2016
27
Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha. ( 27408411 )
2016
28
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II. ( 27540014 )
2016
29
Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II. ( 27548341 )
2016
30
Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia. ( 27960647 )
2016
31
Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III. ( 25900788 )
2015
32
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings. ( 24801240 )
2015
33
Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II. ( 25418799 )
2015
34
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
35
Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene. ( 25912935 )
2015
36
Congenital dyserythropoietic anemia in China: a case report from two families and a review. ( 24196372 )
2014
37
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. ( 24420417 )
2014
38
Congenital dyserythropoietic anemia type I: report of a case. ( 24554823 )
2014
39
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II. ( 24724984 )
2014
40
A novel variant mutation for congenital dyserythropoietic anemia, type II. ( 24801741 )
2014
41
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
42
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. ( 23095116 )
2013
43
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. ( 23453696 )
2013
44
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
45
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. ( 23570799 )
2013
46
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. ( 23605369 )
2013
47
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. ( 23716552 )
2013
48
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. ( 23719252 )
2013
49
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. ( 23935019 )
2013
50
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload. ( 21108711 )
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_138477.4(CDAN1): c.1787A> G (p.Gln596Arg) single nucleotide variant Benign rs12917189 GRCh37 Chromosome 15, 43023482: 43023482
2 CDAN1 NM_138477.4(CDAN1): c.1787A> G (p.Gln596Arg) single nucleotide variant Benign rs12917189 GRCh38 Chromosome 15, 42731284: 42731284
3 CDAN1 NM_138477.2(CDAN1): c.2671C> T (p.Arg891Cys) single nucleotide variant Benign rs8023524 GRCh37 Chromosome 15, 43020983: 43020983
4 CDAN1 NM_138477.2(CDAN1): c.2671C> T (p.Arg891Cys) single nucleotide variant Benign rs8023524 GRCh38 Chromosome 15, 42728785: 42728785
5 CDAN1 NM_138477.2(CDAN1): c.320A> T (p.Gln107Leu) single nucleotide variant Benign rs4265781 GRCh37 Chromosome 15, 43028749: 43028749
6 CDAN1 NM_138477.2(CDAN1): c.320A> T (p.Gln107Leu) single nucleotide variant Benign rs4265781 GRCh38 Chromosome 15, 42736551: 42736551
7 CDAN1 NM_138477.4(CDAN1): c.386G> A (p.Arg129His) single nucleotide variant Likely benign rs12441516 GRCh37 Chromosome 15, 43028683: 43028683
8 CDAN1 NM_138477.4(CDAN1): c.386G> A (p.Arg129His) single nucleotide variant Likely benign rs12441516 GRCh38 Chromosome 15, 42736485: 42736485
9 SEC23B NM_006363.6(SEC23B): c.1233+9A> G single nucleotide variant Benign rs6081189 GRCh37 Chromosome 20, 18511456: 18511456
10 SEC23B NM_006363.6(SEC23B): c.1233+9A> G single nucleotide variant Benign rs6081189 GRCh38 Chromosome 20, 18530812: 18530812
11 SEC23B NM_006363.6(SEC23B): c.1298C> T (p.Pro433Leu) single nucleotide variant Benign/Likely benign rs17807673 GRCh37 Chromosome 20, 18513372: 18513372
12 SEC23B NM_006363.6(SEC23B): c.1298C> T (p.Pro433Leu) single nucleotide variant Benign/Likely benign rs17807673 GRCh38 Chromosome 20, 18532728: 18532728
13 SEC23B NM_006363.6(SEC23B): c.1405-7C> T single nucleotide variant Benign rs2273525 GRCh37 Chromosome 20, 18522933: 18522933
14 SEC23B NM_006363.6(SEC23B): c.1405-7C> T single nucleotide variant Benign rs2273525 GRCh38 Chromosome 20, 18542289: 18542289
15 SEC23B NM_006363.6(SEC23B): c.1467C> G (p.His489Gln) single nucleotide variant Benign/Likely benign rs2273526 GRCh37 Chromosome 20, 18523002: 18523002
16 SEC23B NM_006363.6(SEC23B): c.1467C> G (p.His489Gln) single nucleotide variant Benign/Likely benign rs2273526 GRCh38 Chromosome 20, 18542358: 18542358
17 SEC23B NM_006363.6(SEC23B): c.1503C> T (p.Ile501=) single nucleotide variant Conflicting interpretations of pathogenicity rs147036760 GRCh37 Chromosome 20, 18523038: 18523038
18 SEC23B NM_006363.6(SEC23B): c.1503C> T (p.Ile501=) single nucleotide variant Conflicting interpretations of pathogenicity rs147036760 GRCh38 Chromosome 20, 18542394: 18542394
19 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 GRCh37 Chromosome 20, 18534947: 18534947
20 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 GRCh38 Chromosome 20, 18554303: 18554303
21 SEC23B NM_006363.6(SEC23B): c.2298C> T (p.Ala766=) single nucleotide variant Benign/Likely benign rs77945587 GRCh37 Chromosome 20, 18541378: 18541378
22 SEC23B NM_006363.6(SEC23B): c.2298C> T (p.Ala766=) single nucleotide variant Benign/Likely benign rs77945587 GRCh38 Chromosome 20, 18560734: 18560734
23 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36023150 GRCh37 Chromosome 20, 18505200: 18505200
24 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36023150 GRCh38 Chromosome 20, 18524556: 18524556
25 SEC23B NM_006363.6(SEC23B): c.1276G> A (p.Val426Ile) single nucleotide variant Benign/Likely benign rs41309927 GRCh37 Chromosome 20, 18513350: 18513350
26 SEC23B NM_006363.6(SEC23B): c.1276G> A (p.Val426Ile) single nucleotide variant Benign/Likely benign rs41309927 GRCh38 Chromosome 20, 18532706: 18532706
27 SEC23B NM_006363.5(SEC23B): c.*9_*10delTA deletion Benign/Likely benign rs142180765 GRCh37 Chromosome 20, 18541393: 18541394
28 SEC23B NM_006363.5(SEC23B): c.*9_*10delTA deletion Benign/Likely benign rs142180765 GRCh38 Chromosome 20, 18560749: 18560750
29 SEC23B NM_006363.6(SEC23B): c.773A> G (p.Gln258Arg) single nucleotide variant Uncertain significance rs534770840 GRCh37 Chromosome 20, 18506515: 18506515
30 SEC23B NM_006363.6(SEC23B): c.773A> G (p.Gln258Arg) single nucleotide variant Uncertain significance rs534770840 GRCh38 Chromosome 20, 18525871: 18525871
31 CDAN1 NM_138477.4(CDAN1): c.2836C> T (p.Arg946Trp) single nucleotide variant Benign/Likely benign rs114779238 GRCh37 Chromosome 15, 43020434: 43020434
32 CDAN1 NM_138477.4(CDAN1): c.2836C> T (p.Arg946Trp) single nucleotide variant Benign/Likely benign rs114779238 GRCh38 Chromosome 15, 42728236: 42728236
33 CDAN1 NM_138477.4(CDAN1): c.3474A> C (p.Leu1158=) single nucleotide variant Benign rs16957091 GRCh38 Chromosome 15, 42725228: 42725228
34 CDAN1 NM_138477.4(CDAN1): c.3474A> C (p.Leu1158=) single nucleotide variant Benign rs16957091 GRCh37 Chromosome 15, 43017426: 43017426
35 CDAN1 NM_138477.2(CDAN1): c.3450+11C> T single nucleotide variant Benign/Likely benign rs56046122 GRCh37 Chromosome 15, 43017676: 43017676
36 CDAN1 NM_138477.2(CDAN1): c.3450+11C> T single nucleotide variant Benign/Likely benign rs56046122 GRCh38 Chromosome 15, 42725478: 42725478
37 CDAN1 NM_138477.4(CDAN1): c.3153G> A (p.Glu1051=) single nucleotide variant Benign rs28661826 GRCh37 Chromosome 15, 43018559: 43018559
38 CDAN1 NM_138477.4(CDAN1): c.3153G> A (p.Glu1051=) single nucleotide variant Benign rs28661826 GRCh38 Chromosome 15, 42726361: 42726361
39 CDAN1 NM_138477.4(CDAN1): c.2872C> T (p.Leu958=) single nucleotide variant Conflicting interpretations of pathogenicity rs764432820 GRCh37 Chromosome 15, 43020228: 43020228
40 CDAN1 NM_138477.4(CDAN1): c.2872C> T (p.Leu958=) single nucleotide variant Conflicting interpretations of pathogenicity rs764432820 GRCh38 Chromosome 15, 42728030: 42728030
41 CDAN1 NM_138477.2(CDAN1): c.2463G> A (p.Gly821=) single nucleotide variant Conflicting interpretations of pathogenicity rs139809959 GRCh38 Chromosome 15, 42729307: 42729307
42 CDAN1 NM_138477.2(CDAN1): c.2463G> A (p.Gly821=) single nucleotide variant Conflicting interpretations of pathogenicity rs139809959 GRCh37 Chromosome 15, 43021505: 43021505
43 CDAN1 NM_138477.2(CDAN1): c.2408-3C> T single nucleotide variant Benign rs12905385 GRCh37 Chromosome 15, 43021563: 43021563
44 CDAN1 NM_138477.2(CDAN1): c.2408-3C> T single nucleotide variant Benign rs12905385 GRCh38 Chromosome 15, 42729365: 42729365
45 CDAN1 NM_138477.4(CDAN1): c.2352+8C> T single nucleotide variant Benign rs12594483 GRCh37 Chromosome 15, 43021986: 43021986
46 CDAN1 NM_138477.4(CDAN1): c.2352+8C> T single nucleotide variant Benign rs12594483 GRCh38 Chromosome 15, 42729788: 42729788
47 CDAN1 NM_138477.2(CDAN1): c.1969G> A (p.Gly657Ser) single nucleotide variant Benign/Likely benign rs61747153 GRCh38 Chromosome 15, 42730963: 42730963
48 CDAN1 NM_138477.2(CDAN1): c.1969G> A (p.Gly657Ser) single nucleotide variant Benign/Likely benign rs61747153 GRCh37 Chromosome 15, 43023161: 43023161
49 CDAN1 NM_138477.2(CDAN1): c.816C> A (p.Thr272=) single nucleotide variant Benign/Likely benign rs76599133 GRCh38 Chromosome 15, 42735637: 42735637
50 CDAN1 NM_138477.2(CDAN1): c.816C> A (p.Thr272=) single nucleotide variant Benign/Likely benign rs76599133 GRCh37 Chromosome 15, 43027835: 43027835

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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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