Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 24-08-2010
Symbol PSALD
Location 16p12.2
Name pseudoaldosteronism, Liddle syndrome
Corresponding gene SCNN1B , SCNN1G
Main clinical features
  • early, and frequently severe, hypertension associated with hypokalemic metabolic alkalosis, low plasma renin activity, and suppressed aldosterone secretion, with urinary aldosterone excretion low, even while they were on a low-sodium diet, excluding primary aldosteronism
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    endocrinology
    Type disease
    Gene product
    Name sodium channel, beta or gamma subunit
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein insertion of a cytosine creating a frameshift and increasing SCNN1B and SCNN1G surface expression by disrupting its interaction with NEDD4L and increasing Na+ current
    deletion   abnormal protein/gain of function deleting the proline-rich sequence (PY motif) and suppressing the interaction with NEDD4 (SCNN1B, SCNN1G)
    Remark(s) mutations in the PY motif of C-terminal region of beta and gamma subunits are associated with Liddle syndrome (Edelheit 2010)