autosomal recessive congenital sideroblastic anemia
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
red blood cell production
|
| gptkbp:causedBy |
mutation in ALAS2 gene
mutation in SLC25A38 gene |
| gptkbp:hasFeature |
gptkb:microcytic_anemia
ring sideroblasts in bone marrow |
| gptkbp:hasOrphanetID |
ORPHA:98853
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive congenital sideroblastic anemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
205950
|
| gptkbp:onset |
congenital
|
| gptkbp:symptom |
gptkb:anemia
fatigue weakness pallor |
| gptkbp:treatment |
gptkb:pyridoxine_(vitamin_B6)
blood transfusion iron chelation therapy |
| gptkbp:bfsParent |
gptkb:SLC25A38
|
| gptkbp:bfsLayer |
8
|