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GTR Home > Conditions/Phenotypes > Dehydrated hereditary stomatocytosis 2

Dehydrated hereditary stomatocytosis 2

Synonyms
DESICCYTOSIS GARDOS; XEROCYTOSIS GARDOS

Summary

In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380). [from OMIM]

Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DHS2, IK, IK1, IKCA1, KCA4, KCa3.1, SK4, hIK1, hIKCa1, hKCa4, hSK4, KCNN4
    Summary: potassium calcium-activated channel subfamily N member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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