congenital dyserythropoietic anemia type III

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 anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25.
Super Class
congenital dyserythropoietic anemia
Disease Ontology
DOID:0111399
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
9493 KIF23 kinesin family member 23
10483 SEC23B SEC23 homolog B, COPII coat complex component
Displaying 1 entry
Gene ID Gene Symbol Description Source
71819 Kif23 kinesin family member 23
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q15437 Protein transport protein Sec23B

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024