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GTR Home > Conditions/Phenotypes > Cryohydrocytosis

Cryohydrocytosis

Synonyms
CRYOHYDROCYTOSIS DUE TO BAND 3 BLACKBURN; CRYOHYDROCYTOSIS DUE TO BAND 3 HEMEL; CRYOHYDROCYTOSIS DUE TO BAND 3 HURSTPIERPOINT; Hereditary cryohydrocytosis with normal stomatin; Pseudohyperkalemia Cardiff; Stomatocytosis, cold-sensitive
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Cryohydrocytosis (CHC) is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by Coles et al., 1999). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by Bogdanova et al., 2010). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR, SLC4A1
    Summary: solute carrier family 4 member 1 (Diego blood group)

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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