Bartter syndrome
Findings
No curated finding names Bartter syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Definition from the Mondo Disease Ontology (MONDO:0015231), read 2026-09-29. CC BY 4.0.
Features
2 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.
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Where it sits
Other names
6 names
Resolves to: Bartter syndrome
- Also called
- Bartter diseaseBartter's syndromehypokalemic alkalosisrenal tubular normotensive hypokalemic alkalosis with hypercalciuriasalt-losing tubular disorder, Henle's loop typesalt-wasting tubulopathy, Henle's loop type