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Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.
Features include always present findings: Hypokalemic alkalosis, Decreased circulating renin concentration, Hypertension, and Hypokalemia and others; and common findings: Reduced kidney function (renal insufficiency).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 1 | Reduced kidney function (renal insufficiency) |
SCNN1B function has not been fully characterized.
Liddle syndrome 1 is associated with mutations in the SCNN1B gene on chromosome 16.
Genetic testing for SCNN1B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Liddle syndrome 1 has been reported in the published literature.
Phenotype severity distribution: 5 always present features, 1 common feature.
2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
28 publications have been identified in PubMed for Liddle syndrome 1. Research spans Review / Meta-Analysis (43%), Other (14%), and Case Report / Case Series (14%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 12 | 43% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC
Online Mendelian Inheritance in Man
Common questions about Liddle syndrome 1
Heart and blood vessels
1 |
Hypertension |
Other research |
4 |
14% |
Patient case studies | 4 | 14% |
Laboratory research | 3 | 11% |
Disease patterns and progression | 3 | 11% |
Testing and diagnosis research | 2 | 7% |
Abboud F (2026). [PMID: 42187272](https://pubmed.ncbi.nlm.nih.gov/42187272/). *Br J Psychiatry*. [Other]
Abd El-Aziz TM (2026). [PMID: 41498836](https://pubmed.ncbi.nlm.nih.gov/41498836/). *Purinergic Signal*. [Review / Meta-Analysis]
Dogra P (2026). [PMID: 31194457](https://pubmed.ncbi.nlm.nih.gov/31194457/). *Unknown Journal*. [Diagnostic / Biomarker]
Nakao S (2026). [PMID: 41534754](https://pubmed.ncbi.nlm.nih.gov/41534754/). *J Ethnopharmacol*. [Epidemiology / Natural History]
Murphy L (2026). [PMID: 30725596](https://pubmed.ncbi.nlm.nih.gov/30725596/). *Unknown Journal*. [Other]
Frindt G (2026). [PMID: 41500518](https://pubmed.ncbi.nlm.nih.gov/41500518/). *Am J Physiol Renal Physiol*. [Basic Science / Preclinical]
Mulatero P (2026). [PMID: 41638800](https://pubmed.ncbi.nlm.nih.gov/41638800/). *Vitam Horm*. [Review / Meta-Analysis]
Lorsch ZS (2026). [PMID: 41480755](https://pubmed.ncbi.nlm.nih.gov/41480755/). *J Clin Invest*. [Review / Meta-Analysis]
Vecino-Pérez M (2026). [PMID: 42123522](https://pubmed.ncbi.nlm.nih.gov/42123522/). *Int J Mol Sci*. [Review / Meta-Analysis]
Li A (2026). [PMID: 41535006](https://pubmed.ncbi.nlm.nih.gov/41535006/). *Endocr J*. [Review / Meta-Analysis]