Congenital dyserythropoietic anemia type II

General Information (adopted from Orphanet):

Synonyms, Signs: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE
HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST
HEMPAS
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II
CDA II
SEC23B-CDG
CDAN2
CDA type II
Congenital dyserythropoietic anemia type 2
Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
CDA type 2
Number of Symptoms 15
OrphanetNr: 98873
OMIM Id: 224100
ICD-10: D64.4
UMLs: C1306589
MeSH:
MedDRA:
Snomed: 68870007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital dyserythropoietic anemia
 -Rare genetic disease
 -Rare hematologic disease
Disorder of multiple glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001744) Splenomegaly 337 / 7739
2
 (HPO:0001081) Cholelithiasis 36 / 7739
3
 (HPO:0000952) Jaundice 105 / 7739
4
 (HPO:0001923) Reticulocytosis 28 / 7739
5
 (HPO:0010972) Anemia of inadequate production 10 / 7739
6
 (HPO:0001878) Hemolytic anemia 83 / 7739
7
 (HPO:0001903) Anemia 289 / 7739
8
 (HPO:0003352) Endopolyploidy on chromosome studies of bone marrow 2 / 7739
9
 (HPO:0003655) Reduced activity of N-acetylglucosaminyltransferase II 2 / 7739
10
 (OMIM) Hypoglycosylation of red blood cell membranes 1 / 7739
11
 (OMIM) Erythroblast morphologic abnormalities 1 / 7739
12
 (OMIM) Osmotic fragility of red blood cells 1 / 7739
13
 (OMIM) Multinucleated erythroblasts 1 / 7739
14
 (OMIM) Increased serum unconjugated bilirubin 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Verwilghen et al. (1969) reported 2 families. De Lozzio et al. (1962) studied an affected woman with 2 affected sisters. The parents could not be examined. They demonstrated endopolyploidy by chromosome studies of bone marrow. The karyotype of ...
Molecular genetics OMIM In affected individuals from 23 families with congenital dyserythropoietic anemia type II (CDA II; 224100), Schwarz et al. (2009) identified 18 different mutations and 1 deletion in the SEC23B gene (see, e.g., 610512.0001-612512.0005). All mutations were in the ...