congenital dyserythropoietic anemia type IV
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
congenital dyserythropoietic anemia |
| gptkbp:complication |
iron overload
|
| gptkbp:firstDescribed |
2008
|
| gptkbp:hasGeneticCause |
mutation in KLF1 gene
|
| gptkbp:hasLaboratoryFinding |
ineffective erythropoiesis
erythroblast multinuclearity erythroid hyperplasia |
| gptkbp:hasOrphanetID |
ORPHA:98897
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital dyserythropoietic anemia type IV
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
613673
|
| gptkbp:symptom |
gptkb:anemia
jaundice splenomegaly ineffective erythropoiesis |
| gptkbp:treatment |
gptkb:splenectomy
blood transfusion hematopoietic stem cell transplantation iron chelation therapy |
| gptkbp:bfsParent |
gptkb:KLF1
|
| gptkbp:bfsLayer |
7
|