Bartter syndrome type 4
Findings
No curated finding names Bartter syndrome type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.
Definition from the Mondo Disease Ontology (MONDO:0019524), read 2026-09-29. CC BY 4.0.
Features
35 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.
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Very frequent (80% to 99% of cases)
- Hyperactive renin-angiotensin systemHPOHP:0000841
- Very frequent (80% to 99% of cases)
- HypokalemiaHPOHP:0002900
- Very frequent (80% to 99% of cases)
- Hypokalemic metabolic alkalosisHPOHP:0001960
- Very frequent (80% to 99% of cases)
- Impaired renal concentrating abilityHPOHP:0004727
- Very frequent (80% to 99% of cases)
- Increased circulating aldosterone concentrationHPOHP:0000859
- Very frequent (80% to 99% of cases)
Reported absent (1)
- HypertensionHPOHP:0000822
Show the remaining 23
- HypercalciuriaHPOHP:0002150
- Frequent (30% to 79% of cases)
- HyperprostaglandinuriaHPOHP:0003527
- Frequent (30% to 79% of cases)
- HypochloremiaHPOHP:0003113
- Frequent (30% to 79% of cases)
- HypomagnesemiaHPOHP:0002917
- Frequent (30% to 79% of cases)
- HyponatremiaHPOHP:0002902
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Genes
3 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.
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: Bartter syndrome type 4
- Also called
- Bartter syndrome type IVBartter syndrome with sensorineural deafness