Liddle syndrome 3
MONDO:0029132Mondo
Findings
No curated finding names Liddle syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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 aldosterone concentrationHPOHP:0004319
- 2 of 2 reported patients
- Decreased circulating renin concentrationHPOHP:0003351
- 2 of 2 reported patients
- HypertensionHPOHP:0000822
- 2 of 2 reported patients
- HypokalemiaHPOHP:0002900
- 2 of 2 reported patients
- Metabolic alkalosisHPOHP:0200114
- 2 of 2 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.
- SCNN1AHGNC:10599
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of