CDAN2
MCID: ANM042
MIFTS: 34

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 58
Cda Ii 58 54 60 76
Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test 58 54 76
Congenital Dyserythropoietic Anemia, Type Ii 30 6 74
Congenital Dyserythropoietic Anemia Type Ii 54 60 76
Cdan2 58 54 76
Hereditary Erythroblastic Multinuclearity with a Positive Acidified-Serum Test 54 60
Congenital Dyserythropoietic Anemia Type 2 54 60
Dyserythropoietic Anemia, Hempas Type 58 54
Cda Type Ii 54 60
Sec23b-Cdg 54 60
Hempas 58 76
Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; Hempas 58
Anemia, Dyserythropoietic, Congenital, Type Ii 41
Dyserythropoietic Anemia, Congenital, Type Ii 58
Anemia, Dyserythropoietic Congenital, Type Ii 13
Anemia, Dyserythropoietic, Congenital Type 2 54
Dyserythropoietic Anemia, Congenital Type 2 77
Anemia, Congenital Dyserythropoietic, 2 76
Dyserythropoietic Anemia Hempas Type 76
Hempas Anemia 54
Cda Type 2 60

Characteristics:

Orphanet epidemiological data:

60
congenital dyserythropoietic anemia type ii
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age at diagnosis


HPO:

33
anemia, congenital dyserythropoietic, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 224100
MeSH 45 D000742
ICD10 via Orphanet 35 D64.4
UMLS via Orphanet 75 C1306589
Orphanet 60 ORPHA98873
MedGen 43 C1306589
UMLS 74 C1306589

Summaries for Anemia, Congenital Dyserythropoietic, Type Ii

NIH Rare Diseases : 54 Congenital dyserythropoietic anemia type 2 (CDA II) is an inheritedblood 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 paroxysmal nocturnal hemoglobinuria and hemoglobinuria, 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 : 76 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 : 77 Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with... more...

Description from OMIM: 224100

Related Diseases for Anemia, Congenital Dyserythropoietic, Type Ii

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 cholelithiasis 33 HP:0001081
3 jaundice 33 HP:0000952
4 reticulocytosis 33 HP:0001923
5 anemia of inadequate production 33 HP:0010972
6 endopolyploidy on chromosome studies of bone marrow 33 HP:0003352
7 reduced activity of n-acetylglucosaminyltransferase ii 33 HP:0003655

Symptoms via clinical synopsis from OMIM:

58
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 30 SEC23B

Anatomical Context for Anemia, Congenital Dyserythropoietic, Type Ii

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

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

Publications for Anemia, Congenital Dyserythropoietic, Type Ii

Articles related to Anemia, Congenital Dyserythropoietic, Type Ii:

(show all 26)
# Title Authors Year
1
A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively. ( 22428539 )
2012
2
DNA methyltransferase inhibitor CDA-II inhibits myogenic differentiation. ( 22627135 )
2012
3
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. ( 21850656 )
2011
4
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. ( 19561605 )
2009
5
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. ( 19621418 )
2009
6
CDA-II, a urinary preparation, induces growth arrest and apoptosis of human leukemia cells through inactivation of nuclear factor-kappaB in a caspase-dependent manner. ( 18761050 )
2009
7
Comparative proteomics and molecular mechanical analysis in CDA-II induced therapy of LCI-D20 hepatocellular carcinoma model. ( 18853186 )
2009
8
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). ( 18166993 )
2008
9
Successful treatment of iron overload with phlebotomies in two siblings with congenital dyserythropoietic anemia--type II (CDA-II). ( 17117609 )
2006
10
Inhibitory effect of CDA-II, a urinary preparation, on aflatoxin B(1)-induced oxidative stress and DNA damage in primary cultured rat hepatocytes. ( 16229933 )
2006
11
Ineffective erythropoiesis underlies the clinical heterogeneity of congenital dyserythropoietic anemia type II (CDA II). ( 15151542 )
2004
12
Excess of Pappenheimer bodies (siderocytes) in two splenectomized siblings with congenital dyserythropoietic anemia--type II (CDA-II) and iron overload. ( 15568737 )
2004
13
Effect of CDA-II on cell viability, lipid peroxidation, glutathione concentration and its related enzyme activities in primary rat hepatocytes. ( 12943172 )
2003
14
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. ( 11422224 )
2001
15
Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). ( 11281393 )
2001
16
Effect of CDA-II, urinary preparation, on lipofuscin, lipid peroxidation and antioxidant systems in young and middle-aged rat brain. ( 11321484 )
2001
17
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). ( 10753261 )
2000
18
Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? ( 10800161 )
2000
19
Short report: erythrocyte membranes from a patient with congenital dyserythropoietic anaemia type I (CDA-I) show identical, although less pronounced, glycoconjugate abnormalities to those from patients with CDA-II (HEMPAS). ( 11054095 )
2000
20
Suppression of CDA II expression in a homozygote. ( 10519996 )
1999
21
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). ( 9354691 )
1997
22
Glycolipids and glycopeptides of red cell membranes in congenital dyserythropoietic anaemia type II (CDA II). ( 3620357 )
1987
23
Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II). ( 6615729 )
1983
24
Erythrocyte membrane proteins in an unusual case of congenital dyserythropoietic anaemia type II (CDA II). ( 7055536 )
1982
25
Congenital dyserythropoietic anaemia type II (CDA-II): chromosomal banding studies and adherent cell effects on erythroid colony (CFU-E) and burst (BFU-E) formation. ( 7066202 )
1982
26
Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis. ( 869997 )
1977

Variations for Anemia, Congenital Dyserythropoietic, Type Ii

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

76
# 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

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

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 SEC23B NM_006363.6(SEC23B): c.325G> A (p.Glu109Lys) single nucleotide variant Pathogenic rs121918221 GRCh37 Chromosome 20, 18496339: 18496339
2 SEC23B NM_006363.6(SEC23B): c.325G> A (p.Glu109Lys) single nucleotide variant Pathogenic rs121918221 GRCh38 Chromosome 20, 18515695: 18515695
3 SEC23B NM_006363.6(SEC23B): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs121918222 GRCh37 Chromosome 20, 18491519: 18491519
4 SEC23B NM_006363.6(SEC23B): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs121918222 GRCh38 Chromosome 20, 18510875: 18510875
5 SEC23B NM_006363.6(SEC23B): c.1588C> T (p.Arg530Trp) single nucleotide variant Pathogenic rs121918223 GRCh37 Chromosome 20, 18523739: 18523739
6 SEC23B NM_006363.6(SEC23B): c.1588C> T (p.Arg530Trp) single nucleotide variant Pathogenic rs121918223 GRCh38 Chromosome 20, 18543095: 18543095
7 SEC23B NM_006363.6(SEC23B): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs121918224 GRCh37 Chromosome 20, 18506532: 18506532
8 SEC23B NM_006363.6(SEC23B): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs121918224 GRCh38 Chromosome 20, 18525888: 18525888
9 SEC23B NM_006363.6(SEC23B): c.970C> T (p.Arg324Ter) single nucleotide variant Pathogenic rs121918225 GRCh37 Chromosome 20, 18507152: 18507152
10 SEC23B NM_006363.6(SEC23B): c.970C> T (p.Arg324Ter) single nucleotide variant Pathogenic rs121918225 GRCh38 Chromosome 20, 18526508: 18526508
11 SEC23B NM_006363.6(SEC23B): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs121918226 GRCh37 Chromosome 20, 18505624: 18505624
12 SEC23B NM_006363.6(SEC23B): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs121918226 GRCh38 Chromosome 20, 18524980: 18524980
13 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 GRCh37 Chromosome 20, 18534947: 18534947
14 SEC23B NM_006363.6(SEC23B): c.2061G> T (p.Leu687=) single nucleotide variant Benign/Likely benign rs7262532 GRCh38 Chromosome 20, 18554303: 18554303
15 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36023150 GRCh37 Chromosome 20, 18505200: 18505200
16 SEC23B NM_006363.6(SEC23B): c.490G> T (p.Val164Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36023150 GRCh38 Chromosome 20, 18524556: 18524556
17 SEC23B NM_006363.6(SEC23B): c.689+1G> A single nucleotide variant Pathogenic rs398124226 GRCh37 Chromosome 20, 18505665: 18505665
18 SEC23B NM_006363.6(SEC23B): c.689+1G> A single nucleotide variant Pathogenic rs398124226 GRCh38 Chromosome 20, 18525021: 18525021
19 SEC23B NM_006363.6(SEC23B): c.74C> A (p.Pro25His) single nucleotide variant Uncertain significance rs6045440 GRCh37 Chromosome 20, 18491553: 18491553
20 SEC23B NM_006363.6(SEC23B): c.74C> A (p.Pro25His) single nucleotide variant Uncertain significance rs6045440 GRCh38 Chromosome 20, 18510909: 18510909
21 SEC23B NM_006363.6(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 GRCh37 Chromosome 20, 18523800: 18523800
22 SEC23B NM_006363.6(SEC23B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign/Likely benign rs111572459 GRCh38 Chromosome 20, 18543156: 18543156
23 SEC23B NM_006363.6(SEC23B): c.576_583delCAAGGATTinsA (p.Lys193Terfs) indel Pathogenic rs1555788144 GRCh37 Chromosome 20, 18505286: 18505293
24 SEC23B NM_006363.6(SEC23B): c.576_583delCAAGGATTinsA (p.Lys193Terfs) indel Pathogenic rs1555788144 GRCh38 Chromosome 20, 18524642: 18524649
25 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 GRCh37 Chromosome 20, 18491545: 18491545
26 SEC23B NM_006363.6(SEC23B): c.66C> T (p.Asn22=) single nucleotide variant Benign rs144542988 GRCh38 Chromosome 20, 18510901: 18510901
27 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic rs1555789463 GRCh37 Chromosome 20, 18516391: 18516391
28 SEC23B NM_006363.6(SEC23B): c.1404+5G> A single nucleotide variant Likely pathogenic rs1555789463 GRCh38 Chromosome 20, 18535747: 18535747
29 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 GRCh37 Chromosome 20, 18516299: 18516299
30 SEC23B NM_006363.6(SEC23B): c.1317G> T (p.Glu439Asp) single nucleotide variant Likely benign rs147410912 GRCh38 Chromosome 20, 18535655: 18535655
31 SEC23B NM_006363.6(SEC23B): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 18523042: 18523042
32 SEC23B NM_006363.6(SEC23B): c.1507C> T (p.Arg503Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 18542398: 18542398
33 SEC23B NM_006363.6(SEC23B): c.816del (p.Ile272Metfs) deletion Pathogenic GRCh37 Chromosome 20, 18506558: 18506558
34 SEC23B NM_006363.6(SEC23B): c.816del (p.Ile272Metfs) deletion Pathogenic GRCh38 Chromosome 20, 18525914: 18525914
35 SEC23B NM_006363.6(SEC23B): c.1665+6T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 18523822: 18523822
36 SEC23B NM_006363.6(SEC23B): c.1665+6T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 18543178: 18543178

Expression for Anemia, Congenital Dyserythropoietic, Type Ii

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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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