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IRIDA syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
Uniprot Description Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron.
Mondo Term and Equivalent IDs
MONDO:0008788:  IRIDA syndrome
GARD:0010957: 
MESH:C562385: 
Orphanet:209981: 
SCTID:722005000: