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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.
Features include very common findings: Hypokalemia; and common findings: Failure to thrive, Hypomagnesemia, Muscle weakness, and Prolonged QT interval and others. 82 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 11 | Seizure, Ataxia, Paresthesia |
SLC12A3 function has not been fully characterized.
Gitelman syndrome is associated with mutations in the SLC12A3 gene on chromosome 16.
Genetic testing for SLC12A3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Gitelman syndrome has been reported in the published literature.
Phenotype severity distribution: 1 very common feature, 6 common features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
89 publications have been identified in PubMed for Gitelman syndrome. Research spans Case Report / Case Series (60%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 53 | 60% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:47 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Gitelman syndrome
9 |
Renal magnesium wasting, Renal potassium wasting, Decreased urinary potassium |
Muscles | 7 | Muscle spasm, Muscle weakness, Generalized muscle weakness |
Digestive system | 5 | Constipation, Vomiting, Abdominal pain |
Hormones | 5 | Delayed puberty, Type II diabetes mellitus, Type I diabetes mellitus |
Heart and blood vessels | 3 | Ventricular tachycardia, Ventricular fibrillation, Pericardial effusion |
Ears | 2 | Vertigo, Tinnitus |
Growth and development | 2 | Failure to thrive, Growth delay |
Metabolism | 2 | Recurrent fever, Metabolic alkalosis |
Bones and joints | 1 | Arthralgia |
Lab test results | 1 | Increased circulating renin concentration |
Eyes | 1 | Blurred vision |
Skin | 1 | Excessive sweating (hyperhidrosis) |
Blood and immune system | 1 | Low iron red blood cell count (iron deficiency anemia) |
Lungs and breathing | 1 | Respiratory distress |
Laboratory research |
16 |
18% |
Research summaries | 8 | 9% |
Disease patterns and progression | 7 | 8% |
Clinical study results | 3 | 3% |
Other research | 1 | 1% |
Testing and diagnosis research | 1 | 1% |
Zhang JH (2026). [PMID: 41942324](https://pubmed.ncbi.nlm.nih.gov/41942324/). *Zhonghua Nei Ke Za Zhi*. [Basic Science / Preclinical]
Kemal H (2026). [PMID: 42189724](https://pubmed.ncbi.nlm.nih.gov/42189724/). *Pacing Clin Electrophysiol*. [Case Report / Case Series]
Xu C (2026). [PMID: 41767689](https://pubmed.ncbi.nlm.nih.gov/41767689/). *Kidney medicine*. [Case Report / Case Series]
Szubert I (2026). [PMID: 41751411](https://pubmed.ncbi.nlm.nih.gov/41751411/). *Current issues in molecular biology*. [Case Report / Case Series]
Başpınar N (2026). [PMID: 41674077](https://pubmed.ncbi.nlm.nih.gov/41674077/). *Diagnostic and interventional radiology (Ankara, Turkey)*. [Basic Science / Preclinical]
Lim SW (2026). [PMID: 41644267](https://pubmed.ncbi.nlm.nih.gov/41644267/). *Kidney research and clinical practice*. [Case Report / Case Series]
Bragança R (2026). [PMID: 41700263](https://pubmed.ncbi.nlm.nih.gov/41700263/). *Cureus*. [Case Report / Case Series]
Vecino-Pérez M (2026). [PMID: 42123522](https://pubmed.ncbi.nlm.nih.gov/42123522/). *Int J Mol Sci*. [Review / Meta-Analysis]
Han J (2026). [PMID: 42056734](https://pubmed.ncbi.nlm.nih.gov/42056734/). *Ren Fail*. [Basic Science / Preclinical]
Melkie IS (2026). [PMID: 41815885](https://pubmed.ncbi.nlm.nih.gov/41815885/). *Clinical case reports*. [Case Report / Case Series]
AI-curated news mentioning Gitelman syndrome
Updated Jun 15, 2026
A recent study explores the link between early-onset calcium pyrophosphate disease and genetic hypomagnesemia, expanding the understanding beyond Gitelman syndrome. This research highlights the genetic factors contributing to these conditions.