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Summary Literature (5)
DOID:0050450 - Gitelman syndrome


Disease Ontology Definition:A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).

Synonyms: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA

Xenbase Genes : slc12a3, slc12a3, clcnkb

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009904 - Gitelman syndrome

OMIM:
OMIM:263800 - GITELMAN SYNDROME; GTLMNS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), renal tubular transport disease (is_a)