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Genetic and Rare Diseases Information Center (GARD)

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Liddle syndrome

Other Names for this Disease
  • Liddle's syndrome
  • Pseudoaldosteronism
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What causes Liddle syndrome?

Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G .[1]

The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs).[2] The SCNN1G gene provides instructions for making a different piece (the gamma subunit) of ENaCs.[3] These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells.[2]

Mutations in the SCNN1B and SCNN1G genes associated with Liddle syndrome affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to hypertension. Removal of potassium from the blood is linked with reabsorption of sodium into the blood, so excess sodium reabsorption leads to hypokalemia.[2][3]
Last updated: 9/21/2012

  1. Rosa Vargas-Poussou. Liddle syndrome. Orphanet. August 2011; Accessed 9/21/2012.
  2. SCNN1B. Genetics Home Reference. December 2011; Accessed 9/21/2012.
  3. SCNN1G. Genetics Home Reference. December 2011; Accessed 9/21/2012.