familial pseudohyperkalemia
Findings
No curated finding names familial pseudohyperkalemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012204), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperkalemiaHPOHP:0002153
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- StomatocytosisHPOHP:0004446
- Frequent (30% to 79% of cases)
- Increased mean corpuscular volumeHPOHP:0005518
- Occasional (5% to 29% of cases)
- ReticulocytosisHPOHP:0001923
- Occasional (5% to 29% of cases)
- Episodic hemolytic anemiaHPOHP:0004802
- Very rare (1% to 4% of cases)
- Hemolytic anemia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCB6HGNC:47
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: familial pseudohyperkalemia
- Also called
- pseudohyperkalemia, familial, 2, due to red cell leakPSHK2