Bartter disease type 2
MONDO:0009424Mondo
Findings
No curated finding names Bartter disease type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009424), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
6 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.
- HypercalciuriaHPOHP:0002150
- 9 of 9 reported patients
- HypokalemiaHPOHP:0002900
- 9 of 9 reported patients
- Hypokalemic metabolic alkalosisHPOHP:0001960
- 9 of 9 reported patients
- Increased circulating aldosterone concentrationHPOHP:0000859
- 9 of 9 reported patients
- Increased circulating renin concentrationHPOHP:0000848
- 9 of 9 reported patients
- NephrocalcinosisHPOHP:0000121
- 7 of 8 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.
- KCNJ1HGNC:6255
- Definitive · ClinGen · Autosomal recessive · 2022
- 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 2
- Also called
- BARTS2Bartter syndrome caused by mutation in KCNJ1Bartter syndrome type 2Bartter syndrome, type 2hyperprostaglandin E syndrome 2KCNJ1 Bartter syndrome