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

cryohydrocytosis

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.
Uniprot Description An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes.
Mondo Term and Equivalent IDs
MONDO:0008494:  cryohydrocytosis
GARD:0010184: 
MESH:C535827: 
Orphanet:398088: 
UMLS:C1861453: