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familial pseudohyperkalemia

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
Uniprot Description A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape.
Mondo Term and Equivalent IDs
MONDO:0012204:  familial pseudohyperkalemia
MESH:C563785: 
Orphanet:90044: 
SCTID:717254007: 
UMLS:C1836705: 
UMLS:C4273970: