Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014).
Genetic Heterogeneity of Liddle Syndrome
Liddle syndrome-2 (618114) is caused by mutation in the SCNN1G gene (600761), which encodes the ENaC gamma subunit. Liddle syndrome-3 (618126) is caused by mutation in the SCNN1A gene (600228), which encodes the ENaC alpha subunit.
Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases. [from OMIM]
Also known as: BESC1, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB, beta-ENaC, beta-NaCH, SCNN1B
Summary: sodium channel epithelial 1 subunit beta
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