Diamond-Blackfan Anemia (BDA)

Diamond-Blackfan Anemia(来自ICD-11)
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Diamond-Blackfan Anemia, also known as congenital pure red cell aplasia, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 11. An important gene associated with Diamond-Blackfan Anemia is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. The drugs Deferasirox and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are pure red cell aplasia and elevated red cell adenosine deaminase activity
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相关ID:
MESH:D029503
ICD11:217030515

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AD
Newborn
1-9/1000000
189
1276
120

疾病表征

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靶点药物

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疾病模型

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MGI
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