CDAN2
MCID: ANM042
MIFTS: 36

Anemia, Congenital Dyserythropoietic, Type Ii (CDAN2)

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

Aliases & Classifications for Anemia, Congenital Dyserythropoietic, Type Ii

MalaCards integrated aliases for Anemia, Congenital Dyserythropoietic, Type Ii:

Name: Anemia, Congenital Dyserythropoietic, Type Ii 57
Cda Ii 57 53 59 74
Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test 57 53 74
Congenital Dyserythropoietic Anemia, Type Ii 29 6 72
Congenital Dyserythropoietic Anemia Type Ii 53 59 74
Cdan2 57 53 74
Hereditary Erythroblastic Multinuclearity with a Positive Acidified-Serum Test 53 59
Congenital Dyserythropoietic Anemia Type 2 53 59
Dyserythropoietic Anemia, Hempas Type 57 53
Cda Type Ii 53 59
Sec23b-Cdg 53 59
Hempas 57 74
Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; Hempas 57
Anemia, Dyserythropoietic, Congenital, Type Ii 40
Dyserythropoietic Anemia, Congenital, Type Ii 57
Anemia, Dyserythropoietic Congenital, Type Ii 13
Anemia, Dyserythropoietic, Congenital Type 2 53
Dyserythropoietic Anemia, Congenital Type 2 75
Anemia, Congenital Dyserythropoietic, 2 74
Dyserythropoietic Anemia Hempas Type 74
Hempas Anemia 53
Cda Type 2 59

Characteristics:

Orphanet epidemiological data:

59
congenital dyserythropoietic anemia type ii
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable age at diagnosis


HPO:

32
anemia, congenital dyserythropoietic, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D000742
ICD10 via Orphanet 34 D64.4
UMLS via Orphanet 73 C1306589
Orphanet 59 ORPHA98873
MedGen 42 C1306589
UMLS 72 C1306589

Summaries for Anemia, Congenital Dyserythropoietic, Type Ii

NIH Rare Diseases : 53 Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. 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 II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.

MalaCards based summary : Anemia, Congenital Dyserythropoietic, Type Ii, also known as cda ii, is related to hemolytic anemia and congenital dyserythropoietic anemia, and has symptoms including icterus An important gene associated with Anemia, Congenital Dyserythropoietic, Type Ii is SEC23B (SEC23 Homolog B, Coat Complex II Component). Affiliated tissues include testes, bone and bone marrow, and related phenotypes are splenomegaly and cholelithiasis

UniProtKB/Swiss-Prot : 74 Anemia, congenital dyserythropoietic, 2: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins.

Wikipedia : 75 Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with... more...

More information from OMIM: 224100 PS224120

Related Diseases for Anemia, Congenital Dyserythropoietic, Type Ii

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 Anemia, Congenital Dyserythropoietic, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 10.5
2 congenital dyserythropoietic anemia 10.5
3 paroxysmal nocturnal hemoglobinuria 10.4
4 hemoglobinuria 10.4
5 hemosiderosis 10.3
6 rare hereditary hemochromatosis 10.3
7 gallbladder disease 1 10.3
8 liver cirrhosis 10.2
9 autosomal recessive disease 10.2
10 anemia, congenital dyserythropoietic, type ia 10.1
11 splenomegaly 10.1
12 anemia, congenital dyserythropoietic, type iii 10.1
13 fibromuscular dysplasia 10.1
14 varicose veins 10.1
15 anemia, autoimmune hemolytic 10.1
16 esophageal varix 10.1
17 protein c deficiency 10.1
18 priapism 10.1
19 hematopoietic stem cell transplantation 10.1
20 refractory anemia 10.1
21 deficiency anemia 10.1
22 hemochromatosis, type 1 10.1
23 piebald trait 10.1
24 congenital disorder of glycosylation, type iia 10.1
25 alpha-thalassemia 10.1
26 cholelithiasis 10.1
27 thalassemia 10.1
28 disseminated intravascular coagulation 10.1
29 plasmodium falciparum malaria 10.1
30 hairy cell leukemia 10.1
31 yellow fever 10.1
32 vaginal atresia 10.1
33 retinal detachment 10.0
34 gout 10.0
35 gilbert syndrome 10.0
36 leukemia, acute myeloid 10.0
37 acute promyelocytic leukemia 10.0
38 graft-versus-host disease 10.0
39 gallbladder disease 10.0
40 siderosis 10.0
41 cholecystolithiasis 10.0
42 choledocholithiasis 10.0
43 hereditary spherocytosis 10.0
44 obstructive jaundice 10.0
45 bilirubin metabolic disorder 10.0
46 severe combined immunodeficiency 10.0

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



Diseases related to Anemia, Congenital Dyserythropoietic, Type Ii

Symptoms & Phenotypes for Anemia, Congenital Dyserythropoietic, Type Ii

Human phenotypes related to Anemia, Congenital Dyserythropoietic, Type Ii:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 cholelithiasis 32 HP:0001081
3 jaundice 32 HP:0000952
4 reticulocytosis 32 HP:0001923
5 anemia of inadequate production 32 HP:0010972
6 endopolyploidy on chromosome studies of bone marrow 32 HP:0003352
7 reduced activity of n-acetylglucosaminyltransferase ii 32 HP:0003655

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Abdomen Biliary Tract:
cholelithiasis

Skin Nails Hair Skin:
jaundice

Hematology:
anemia
ineffective erythropoiesis
hemolysis
erythroblast morphologic abnormalities
multinucleated erythroblasts
more
Abdomen Liver:
jaundice

Laboratory Abnormalities:
increased serum unconjugated bilirubin

Clinical features from OMIM:

224100

UMLS symptoms related to Anemia, Congenital Dyserythropoietic, Type Ii:


icterus

Drugs & Therapeutics for Anemia, Congenital Dyserythropoietic, Type Ii

Search Clinical Trials , NIH Clinical Center for Anemia, Congenital Dyserythropoietic, Type Ii

Genetic Tests for Anemia, Congenital Dyserythropoietic, Type Ii

Genetic tests related to Anemia, Congenital Dyserythropoietic, Type Ii:

# Genetic test Affiliating Genes
1 Congenital Dyserythropoietic Anemia, Type Ii 29 SEC23B

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Ii

MalaCards organs/tissues related to Anemia, Congenital Dyserythropoietic, Type Ii:

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

Publications for Anemia, Congenital Dyserythropoietic, Type Ii

Articles related to Anemia, Congenital Dyserythropoietic, Type Ii:

(show all 28)
# Title Authors PMID Year
1
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. 38 8 71
19621418 2009
2
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 8 71
19561605 2009
3
Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1. 8
14504075 2003
4
Natural history of congenital dyserythropoietic anemia type II. 8
11493480 2001
5
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). 8
10753261 2000
6
Genetic heterogeneity of congenital dyserythropoietic anemia type II. 8
9746803 1998
7
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). 8
9354691 1997
8
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. 8
9345103 1997
9
Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme. 8
8524845 1995
10
Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS). 8
1482662 1992
11
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. 8
2217175 1990
12
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. 8
2953718 1987
13
Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS). 8
6538436 1984
14
Red cell membrane protein anomalies in congenital dyserythropoietic anaemia, type II (HEMP AS). 8
7066206 1982
15
Congenital dyserythropoietic anaemia (CDA) with severe gout, rare Kell phenotype and erythrocyte, granulocyte and platelet membrane reduplication: a new variant of CDA type II. 8
7378299 1980
16
Ultrastructural studies of an unusual variant of congenital dyserythropoietic anaemia type II. 8
6774576 1980
17
Congenital dyserythropoietic anaemia with peculiar nuclear abnormality. 8
1198065 1975
18
Congenital dyserythropoietic anaemia with features of both type I and TYPE II. 8
1198066 1975
19
Hempas: congenital dyserythropoietic anaemia (type II). 8
4785435 1973
20
Type II congenital dyserythropoietic anemia. 8
4340898 1972
21
Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: a type of congenital dyserythropoietic anaemia. 8
5807784 1969
22
Ineffective erythropoiesis with morphologically abnormal erythroblasts and unconjugated hyperbilirubinaemia. 8
5807786 1969
23
[Congenital dyserythropoietic anemia in a pair of dizygotic twins]. 8
5590186 1967
24
Chromosomal study in erythroblastic endopolyploidy. 8
13884336 1962
25
[Congenital dyserythropoietic anemia type II: a case report and literature review]. 38
22781715 2012
26
Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers. 38
11836161 2002
27
Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? 38
10800161 2000
28
Suppression of CDA II expression in a homozygote. 38
10519996 1999

Variations for Anemia, Congenital Dyserythropoietic, Type Ii

ClinVar genetic disease variations for Anemia, Congenital Dyserythropoietic, Type Ii:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SEC23B NM_006363.6(SEC23B): c.689+1G> A single nucleotide variant Pathogenic rs398124226 20:18505665-18505665 20:18525021-18525021
2 SEC23B NM_006363.6(SEC23B): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic 20:18523042-18523042 20:18542398-18542398
3 SEC23B NM_006363.6(SEC23B): c.816del (p.Ile272fs) deletion Pathogenic 20:18506558-18506558 20:18525914-18525914
4 SEC23B NM_006363.6(SEC23B): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs121918226 20:18505624-18505624 20:18524980-18524980
5 SEC23B NM_006363.6(SEC23B): c.970C> T (p.Arg324Ter) single nucleotide variant Pathogenic rs121918225 20:18507152-18507152 20:18526508-18526508
6 SEC23B NM_006363.6(SEC23B): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs121918224 20:18506532-18506532 20:18525888-18525888
7 SEC23B NM_006363.6(SEC23B): c.1588C> T (p.Arg530Trp) single nucleotide variant Pathogenic rs121918223 20:18523739-18523739 20:18543095-18543095
8 SEC23B NM_006363.6(SEC23B): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs121918222 20:18491519-18491519 20:18510875-18510875
9 SEC23B NM_006363.6(SEC23B): c.325G> A (p.Glu109Lys) single nucleotide variant Pathogenic rs121918221 20:18496339-18496339 20:18515695-18515695
10 SEC23B NM_006363.6(SEC23B): c.576_583delinsA (p.Thr192_Lys193insTer) indel Pathogenic rs1555788144 20:18505286-18505293 20:18524642-18524649
11 SEC23B NC_000020.10: g.(?_18492869)_(18496380_?)del deletion Pathogenic 20:18492869-18496380 20:18512225-18515736
12 SEC23B NM_006363.6(SEC23B): c.1489C> T (p.Arg497Cys) single nucleotide variant Pathogenic rs727504145 20:18523024-18523024 20:18542380-18542380
13 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic rs1555789463 20:18516391-18516391 20:18535747-18535747
14 SEC23B NM_006363.6(SEC23B): c.74C> A (p.Pro25His) single nucleotide variant Uncertain significance rs6045440 20:18491553-18491553 20:18510909-18510909
15 SEC23B NM_006363.6(SEC23B): c.1665+6T> C single nucleotide variant Uncertain significance 20:18523822-18523822 20:18543178-18543178
16 SEC23B NM_006363.6(SEC23B): c.1233+4C> T single nucleotide variant Uncertain significance 20:18511451-18511451 20:18530807-18530807
17 SEC23B NM_006363.6(SEC23B): c.2150del (p.Ala717fs) deletion Uncertain significance 20:18535752-18535753 20:18555109-18555109
18 SEC23B NM_006363.6(SEC23B): c.1201C> T (p.Arg401Ter) single nucleotide variant Uncertain significance 20:18511415-18511415 20:18530771-18530771
19 SEC23B NM_006363.6(SEC23B): c.2129C> T (p.Thr710Met) single nucleotide variant Uncertain significance 20:18535015-18535015 20:18554371-18554371
20 SEC23B NM_006363.6(SEC23B): c.985G> T (p.Ala329Ser) single nucleotide variant Uncertain significance 20:18507167-18507167 20:18526523-18526523
21 SEC23B NM_006363.6(SEC23B): c.890C> T (p.Thr297Ile) single nucleotide variant Uncertain significance 20:18507072-18507072 20:18526428-18526428
22 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 20:18516299-18516299 20:18535655-18535655
23 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 20:18534947-18534947 20:18554303-18554303
24 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Benign/Likely benign rs36023150 20:18505200-18505200 20:18524556-18524556
25 SEC23B NM_006363.6(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 20:18523800-18523800 20:18543156-18543156
26 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 20:18491545-18491545 20:18510901-18510901

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Congenital Dyserythropoietic, Type Ii:

74
# Symbol AA change Variation ID SNP ID
1 SEC23B p.Arg14Trp VAR_062294 rs121918222
2 SEC23B p.Glu109Lys VAR_062296 rs121918221
3 SEC23B p.Asp348Ala VAR_062300
4 SEC23B p.Arg530Trp VAR_062307 rs121918223
5 SEC23B p.Ser603Leu VAR_062308
6 SEC23B p.Arg701Cys VAR_062309 rs201270568

Expression for Anemia, Congenital Dyserythropoietic, Type Ii

Search GEO for disease gene expression data for Anemia, Congenital Dyserythropoietic, Type Ii.

Pathways for Anemia, Congenital Dyserythropoietic, Type Ii

GO Terms for Anemia, Congenital Dyserythropoietic, Type Ii

Sources for Anemia, Congenital Dyserythropoietic, Type Ii

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58 OMIM via Orphanet
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73 UMLS via Orphanet
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