Liddle syndrome 2
MONDO:0020854Mondo
Findings
No curated finding names Liddle syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.
Definition from the Mondo Disease Ontology (MONDO:0020854), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Decreased circulating renin concentrationHPOHP:0003351
- 7 of 7 reported patients
- HypertensionHPOHP:0000822
- 7 of 7 reported patients
- HypokalemiaHPOHP:0002900
- 7 of 7 reported patients
- Metabolic alkalosisHPOHP:0200114
- 1 of 1 reported patient
- Decreased circulating aldosterone concentrationHPOHP:0004319
- 2 of 7 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.
- SCNN1GHGNC:10602
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Liddle syndrome 2
- Also called
- Liddle syndrome caused by mutation in SCNN1GLIDLS2SCNN1G Liddle syndrome