U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Synonyms
DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA; DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA; Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema; PSEUDOHYPERKALEMIA EDINBURGH; Pseudohyperkalemia, familial, 1, due to red cell leak; Stomatocytosis II

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DHS, ER, FAM38A, LMPH3, LMPHM6, Mib, PIEZO1
    Summary: piezo type mechanosensitive ion channel component 1 (Er blood group)

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.