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atransferrinemia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Uniprot Description A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.
Mondo Term and Equivalent IDs
MONDO:0008846:  atransferrinemia
GARD:0009595: 
MESH:C538259: 
NCIT:C125693: 
Orphanet:1195: 
SCTID:111571009: 
UMLS:C0521802: