Diamond-Blackfan Anemia (BDA)

黑变病-钻石贫血症(来自翻译大模型)

别称:

Congenital Pure Red Cell Aplasia

Anemia, Diamond-Blackfan

Erythrogenesis Imperfecta

Aase Syndrome

Congenital Hypoplastic Anemia

Congenital Prca

Congenital Hypoplastic Anemia of Blackfan and Diamond

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Chronic Constitutional Pure Red Cell Anaemia

Congenital Erythroid Hypoplastic Anemia

Chronic Congenital Agenerative Anemia

Congenital Red Cell Aplastic Anaemia

Pearson Marrow-Pancreas Syndrome

Pure Hereditary Red Cell Aplasia

Diamond-Blackfan Anemia Syndrome

Pure Red Cell Aplasia of Infants

Congenital Pure Red Cell Anaemia

Congenital Pure Red Cell Anemia

Anemia, Hypoplastic, Congenital

Congenital Erythroid Hypoplasia

Constitutional Aplastic Anemia

Hypoplastic Congenital Anemia

Anemia Hypoplastic Congenital

Inherited Erythroblastopenia

Blackfan - Diamond Syndrome

Congenital Red Cell Aplasia

Red Cell Aplasia of Infants

Diamond-Blackfan Anemia 1

Blackfan-Diamond Syndrome

Blackfan-Diamond Disease

Blackfan-Diamond Anemia

Blackfan Diamond Anemia

Aase-Smith Syndrome Ii

Aase-Smith Ii Syndrome

Aase Smith Syndrome 2

Fanconi Anemia

Dba

Bds

Bda

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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

钻石-布莱克曼贫血，也被称为先天性纯红细胞再生障碍，与钻石-布莱克曼贫血1和钻石-布莱克曼贫血11有关。与钻石-布莱克曼贫血相关的基因是RPS19（核糖体蛋白S19），其相关通路/超级通路包括传染病和蛋白质代谢。在该疾病的背景下，已提到的药物有去铁胺和肝提取物。附属组织包括骨髓和骨，相关表型为纯红细胞再生障碍和红细胞腺苷脱氨酶活性升高。

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