cryohydrocytosis
Findings
No curated finding names cryohydrocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008494), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Hemolytic anemiaHPOHP:0001878
- PseudohyperkalemiaHPOHP:4000194
- SplenomegalyHPOHP:0001744
- StomatocytosisHPOHP:0004446
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.
- SLC4A1HGNC:11027
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
Other names
3 names
Resolves to: cryohydrocytosis
- Also called
- CHChereditary cryohydrocytosis with normal stomatinstomatocytosis, cold-sensitive