congenital dyserythropoietic anemia type IIIa

Term ID

DOID:0111399

Synonyms

• anaemia with multinucleated erythroblasts
• anemia with multinucleated erythroblasts
• CDA III
• CDA type 3
• CDA type III
• CDAN3
• Congenital dyserythropoietic anaemia type 3
• congenital dyserythropoietic anaemia type III
• Congenital dyserythropoietic anemia type 3
• hereditary benign erythroreticulosis

Definition

A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene (605064) on chromosome 15q23. https://www.ncbi.nlm.nih.gov/pubmed/7711721

References

• GARD:2002
• MIM:105600
• ORDO:98870
• SNOMEDCT_US_2023_03_01:26409005
• UMLS_CUI:C0271934

Ontology

Human Disease   ( DOID:0111399 )