Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:124

Diamond-Blackfan anemia

Also called DBA, Congenital PRCA, Congenital pure red cell aplasia, Diamond-Blackfan anemia syndrome

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal dominant
Typical age of onset
Childhood, Infancy, Neonatal
Estimated prevalence
1-9 / 1 000 000 (Europe)
Rarity class
1-9 / 1 000 000

ORPHA:124 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Pure red cell aplasia
  • Elevated red cell adenosine deaminase activity
  • Abnormality of the head
  • Pallor
  • Lethargy
  • Growth delay