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GTR Home > Conditions/Phenotypes > Familial hypokalemia-hypomagnesemia

Familial hypokalemia-hypomagnesemia

Synonyms
Gitelman Syndrome; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Potassium and magnesium depletion
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. [from OMIM]

Available tests

65 tests are in the database for this condition.

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Clinical tests (65 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NCC, NCCT, TSC, SLC12A3
    Summary: solute carrier family 12 member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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