Bartter disease type 1
MONDO:0100344Mondo
Findings
No curated finding names Bartter disease type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
10 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.
- DehydrationHPOHP:0001944
- 5 of 5 reported patients · Neonatal onset
- Hyperactive renin-angiotensin systemHPOHP:0000841
- 5 of 5 reported patients
- HypercalciuriaHPOHP:0002150
- 5 of 5 reported patients
- HypokalemiaHPOHP:0002900
- 5 of 5 reported patients
- Increased circulating aldosterone concentrationHPOHP:0000859
- 5 of 5 reported patients
- PolyhydramniosHPOHP:0001561
- 5 of 5 reported patients
- Premature birthHPOHP:0001622
- 5 of 5 reported patients
- Small for gestational ageHPOHP:0001518
- 5 of 5 reported patients
- NephrocalcinosisHPOHP:0000121
- 4 of 5 reported patients
- HypomagnesemiaHPOHP:0002917
- 0 of 5 reported patients
Genes
1 gene
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.
- SLC12A1HGNC:10910
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Bartter disease type 1
- Also called
- BARTS1Bartter syndrome caused by mutation in SLC12A1Bartter syndrome type 1Bartter syndrome, type 1hyperprostaglandin E syndrome 1SLC12A1 Bartter syndrome