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Thrombocytopenia with congenital dyserythropoietic anemia

Disease definition

Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.

ORPHA:67044

  • Synonym(s):
    • Congenital dyserythropoietic anemia with thombocytopenia
    • X-linked congenital dyserythropoietic anemia with thrombocytopenia
    • XDAT
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D69.4
  • OMIM: 300367
  • UMLS: C1845837
  • MeSH: -
  • GARD: -
  • MedDRA: -

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