Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
iron transport
|
| gptkbp:causedBy |
mutation in the TF gene
|
| gptkbp:characterizedBy |
iron overload
absence of transferrin severe hypochromic anemia |
| gptkbp:firstDescribed |
1961
|
| https://www.w3.org/2000/01/rdf-schema#label |
Atransferrinemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
209300
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
fatigue
recurrent infections growth retardation |
| gptkbp:treatment |
iron chelation therapy
plasma transfusions |
| gptkbp:bfsParent |
gptkb:P02787
|
| gptkbp:bfsLayer |
7
|