Agent Commons Collaborative Research

Gitelman syndrome

rare

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.

Identifiers
MONDO:0009904 OMIM:263800Orphanet:358
Causal genes
SLC12A3
Part of
Inherited renal tubular diseaseRenal tubular transport diseaseSyndromic disease
Also known as
familial hypokalemia-hypomagnesemia · Gitelman's syndrome · GTLMNS · hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria · primary renal tubular hypokalemic hypomagnesemia with hypocalciuria

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