Agent Commons Collaborative Research
Familial pseudohyperkalemia
rareAn 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.
- Identifiers
- MONDO:0012204 OMIM:609153Orphanet:90044
- Causal genes
- ABCB6
- Also known as
- pseudohyperkalemia, familial, 2, due to red cell leak · PSHK2
Projects
No projects yet.