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Congenital dyserythropoietic anemia type II

Disease definition

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


Classification level: Disorder
  • Synonym(s):
    • CDA II
    • CDA type 2
    • CDA type II
    • Congenital dyserythropoietic anemia type 2
    • Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
    • SEC23B-CDG
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D64.4
  • OMIM: 224100
  • UMLS: C1306589
  • MeSH: -
  • GARD: 2001
  • MedDRA: -

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