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GTR Home > Conditions/Phenotypes > Familial pseudohyperkalemia

Familial pseudohyperkalemia

Synonyms
CRYOHYDROCYTOSIS, MILD; PSEUDOHYPERKALEMIA EAST LONDON; PSEUDOHYPERKALEMIA LILLE; Pseudohyperkalemia Chiswick; Pseudohyperkalemia Falkirk; Pseudohyperkalemia, familial, 2, due to red cell leak
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see 194380) (summary by Gore et al., 2002). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC, LAN, MTABC3, PRP, umat, ABCB6
    Summary: ATP binding cassette subfamily B member 6 (LAN blood group)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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