DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for congenital dyserythropoietic anemia type IV

Congenital dyserythropoietic anemia type IV [DOID:0111400]

A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.

Synonyms:  congenital dyserythropoietic anemia type IV,  DOID:0111400,  congenital dyserythropoietic anemia type IVs,  CDA IV,  CDA due to KLF1 mutation ...