Deutsch
IllnessLiddle syndrome 1-3
Summary
Short information
A curated panel containing 3 genes for the comprehensive analysis of the suspected Liddle syndrome 1-3
ID
LP0440
Number of genes
3
Accredited laboratory test
Examined sequence length
5,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin + aldosterone
Synonyms
- Sy: early salt-sens. RR, hypokalemia, metabolic alkalosis, suppr. renin activity, aldost. secretion
- Allelic: Bronchiectasis with/-out elevated sweat chloride 2, 1, 3 (SCNN1A, SCNN1B, SCNN1G)
- Allelic: Pseudohypoaldosteronism, type I (SCNN1A, SCNN1B, SCNN1G)
- Liddle syndrome 1 (SCNN1B)
- Liddle syndrome 2 (SCNN1G)
- Liddle syndrome 3 (SCNN1A)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I15.1-
Bioinformatics and clinical interpretation
No text defined