Bartter disease type 5
MONDO:0010503Mondo
Findings
No curated finding names Bartter disease type 5 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 MAGED2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010503), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
4 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
- Medullary nephrocalcinosisHPOHP:0012408
- PolyhydramniosHPOHP:0001561
- PolyuriaHPOHP:0000103
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.
- MAGED2HGNC:16353
- Definitive · ClinGen · X-linked · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Bartter disease type 5
- Also called
- BARTS5Bartter syndrome caused by mutation in MAGED2Bartter syndrome, type 5, antenatal, transientBartter syndrome, type 5, antenatal, transient, X-linked recessiveMAGED2 Bartter syndrome