Liddle Syndrome

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Xu, C. Liddle Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4571 (accessed on 25 September 2026).

Xu C. Liddle Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4571. Accessed September 25, 2026.

Xu, Camila. "Liddle Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4571 (accessed September 25, 2026).

Xu, C. (2020, December 24). Liddle Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4571

Xu, Camila. "Liddle Syndrome." Encyclopedia. Web. 24 December, 2020.

Liddle Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/liddle-syndrome

Liddle syndrome is an inherited form of high blood pressure (hypertension).

genetic conditions

References

Bogdanović R, Kuburović V, Stajić N, Mughal SS, Hilger A, Ninić S, Prijić S,Ludwig M. Liddle syndrome in a Serbian family and literature review of underlyingmutations. Eur J Pediatr. 2012 Mar;171(3):471-8. doi: 10.1007/s00431-011-1581-8.
Corvol P. Liddle's syndrome: heritable human hypertension caused by mutations in the Beta subunit of the epithelial sodium channel. J Endocrinol Invest. 1995Jul-Aug;18(7):592-4.
Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, CanessaC, Iwasaki T, Rossier B, Lifton RP. Hypertension caused by a truncated epithelialsodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. NatGenet. 1995 Sep;11(1):76-82.
Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-WilliamsC, Rossier BC, Lifton RP. A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11495-9.
Lifton RP, Gharavi AG, Geller DS. Molecular mechanisms of human hypertension. Cell. 2001 Feb 23;104(4):545-56. Review.
Rotin D. Role of the UPS in Liddle syndrome. BMC Biochem. 2008 Oct 21;9 Suppl 1:S5. doi: 10.1186/1471-2091-9-S1-S5. Review.
Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC.Identification of a PY motif in the epithelial Na channel subunits as a targetsequence for mutations causing channel activation found in Liddle syndrome. EMBO J. 1996 May 15;15(10):2381-7.
Smith JH, Lindor NM, Rabinstein AA. Cerebrovascular consequences ofpseudohyperaldosteronism. J Clin Hypertens (Greenwich). 2012 Aug;14(8):547-52.doi: 10.1111/j.1751-7176.2012.00639.x.
Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes JB,Welsh MJ. Mechanism by which Liddle's syndrome mutations increase activity of ahuman epithelial Na+ channel. Cell. 1995 Dec 15;83(6):969-78.
Staub O, Dho S, Henry P, Correa J, Ishikawa T, McGlade J, Rotin D. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deletedin Liddle's syndrome. EMBO J. 1996 May 15;15(10):2371-80.
Warnock DG. Liddle syndrome: genetics and mechanisms of Na+ channel defects.Am J Med Sci. 2001 Dec;322(6):302-7. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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