Gitelman syndrome
Findings
No curated finding names Gitelman syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009904), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
77 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypokalemiaHPOHP:0002900
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Very rare (1% to 4% of cases)
- Frequent (30% to 79% of cases)
- HypomagnesemiaHPOHP:0002917
- Frequent (30% to 79% of cases)
- Low-to-normal blood pressureHPOHP:0002632
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
Show the remaining 65
- Insulin resistanceHPOHP:0000855
- Occasional (5% to 29% of cases)
- Metabolic alkalosisHPOHP:0200114
- Occasional (5% to 29% of cases)
- Muscle spasmHPOHP:0003394
- Occasional (5% to 29% of cases)
- Nausea and vomitingHPOHP:0002017
- Occasional (5% to 29% of cases)
- NocturiaHPOHP:0000017
- Occasional (5% to 29% of cases)
- ProteinuriaHPOHP:0000093
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC12A3HGNC:10912
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- CLCNKBHGNC:2027
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Gitelman syndrome
- Also called
- hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuriaprimary renal tubular hypokalemic hypomagnesemia with hypocalciuria