Autosomique dominant
Anémie congénitale arégénérative et souvent macrocytaire avec érythroblastopénie.
Également connu sous le nom de
Aase syndrome; Aase-Smith II syndrome; anaemia congenital erythroid hypoplastic; anaemia Diamond Blackfan type; anemia congenital erythroid hypoplastic; anemia Diamond Blackfan type; aregenerative anaemia chronic congenital; aregenerative anemia chronic congenital; BDS; Blackfan Diamond syndrome; Blackfan-Diamond anaemia; Blackfan-Diamond anemia; chronic constitutional pure red cell anemia; congenital hypoplastic anaemia; congenital hypoplastic anemia; congenital hypoplastic anemia, Blackfan-Diamond type; congenital PRCA; congenital pure red cell aplasia; DBA; erythrogenesis imperfecta; inherited erythroblastopenia; Red cell aplasia, pure hereditary
Inclut 22 sous-types associés ↓Masquer les sous-types ↑
- Diamond-Blackfan anemia 1
- Diamond-Blackfan anemia 10
- Diamond-Blackfan anemia 11
- Diamond-Blackfan anemia 12
- Diamond-Blackfan anemia 13
- Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- Diamond-Blackfan anemia 16
- Diamond-Blackfan anemia 17
- Diamond-Blackfan anemia 18
- Diamond-Blackfan anemia 19
- Diamond-Blackfan anemia 2
- Diamond-Blackfan anemia 20
- Diamond-Blackfan anemia 21
- Diamond-Blackfan anemia 22
- Diamond-Blackfan anemia 3
- Diamond-Blackfan anemia 4
- Diamond-Blackfan anemia 5
- Diamond-Blackfan anemia 6
- Diamond-Blackfan anemia 7
- Diamond-Blackfan anemia 8
- Diamond-Blackfan anemia 9
