Diamond-Blackfan Anemia 1 (DBA1)

先天性再生障碍性贫血1型(来自ICD-11)

别称:

Aase Syndrome

Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii

Dba1

Dba

Anemia, Congenital Hypoplastic, of Blackfan and Diamond

Blackfan-Diamond Syndrome

Bds

Congenital Hypoplastic Anemia of Blackfan and Diamond

Familial Hypoplastic Anaemia with Malformations

Anemia, Congenital Erythroid Hypoplastic

Aregenerative Anemia, Chronic Congenital

Congenital Erythroid Hypoplastic Anemia

Chronic Congenital Aregenerative Anemia

Rps19-Related Diamond-Blackfan Anemia

Constitutional Pure Red Cell Aplasia

Red Cell Aplasia, Pure, Hereditary

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Diamond-Blackfan贫血1，也称为Aase综合征，与Diamond-Blackfan贫血6和Diamond-Blackfan贫血9有关。与Diamond-Blackfan贫血1有关的重要基因是RPS19（核糖体蛋白S19），其相关通路/超通路包括传染病和蛋白质代谢。在该疾病的背景下提到了Deferasirox和螯合剂。附属组织包括骨髓和骨，相关表型为中性粒细胞减少和平均血小板体积增加。

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