You are using an outdated browser. Please upgrade your browser to improve your experience.

overhydrated hereditary stomatocytosis

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
Uniprot Description An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload.
Mondo Term and Equivalent IDs
MONDO:0008493:  overhydrated hereditary stomatocytosis
DOID:0111562: 
GARD:0004183: 
MESH:C566111: 
Orphanet:3203: 
SCTID:722125003: 
UMLS:C1861455: