Diamond-Blackfan Anemia 1 (DBA1)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Diamond-Blackfan Anemia 1, also known as aase syndrome, is related to diamond-blackfan anemia 6 and diamond-blackfan anemia 9. An important gene associated with Diamond-Blackfan Anemia 1 is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. The drugs Deferasirox and Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are neutropenia and increased mean corpuscular volume

Related ID：

MALACARDS：DMN023

OMIM：105650

MESH：C567302

ICD11：1191963445