Diamond-Blackfan Anemia (BDA)

Alias:

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

Related ID：

MALACARDS：DMN001

MESH：D029503

ICD11：217030515