Liddle syndrome 1
MONDO:0020607Mondo
Findings
No curated finding names Liddle syndrome 1 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 SCNN1B gene.
Definition from the Mondo Disease Ontology (MONDO:0020607), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood 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.
- Decreased circulating aldosterone concentrationHPOHP:0004319
- 3 of 3 reported patients
- Decreased circulating renin concentrationHPOHP:0003351
- 3 of 3 reported patients
- HypertensionHPOHP:0000822
- 3 of 3 reported patients
- HypokalemiaHPOHP:0002900
- 3 of 3 reported patients
- Hypokalemic alkalosisHPOHP:0001949
- 3 of 3 reported patients
- Renal insufficiencyHPOHP:0000083
- 1 of 3 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.
- SCNN1BHGNC:10600
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: Liddle syndrome 1
- Also called
- Liddle syndrome caused by mutation in SCNN1BSCNN1B Liddle syndrome