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congenital dyserythropoietic anemia type IIIa
Summary
- Synonym
-
- CDA III
- CDA type 3
- CDA type III
- CDAN3
- Congenital dyserythropoietic anaemia type 3
- Congenital dyserythropoietic anemia type 3
- anaemia with multinucleated erythroblasts
- anemia with multinucleated erythroblasts
- congenital dyserythropoietic anaemia type III
- 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 on chromosome 15q23.
- Super Class
- autosomal dominant disease congenital dyserythropoietic anemia
External Links
- Disease Ontology
- DOID:0111399
- Mondo Disease Ontology
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02241 | Kinesin-like protein KIF23 | |
| Q15437 | Protein transport protein Sec23B |
