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<meta name="keywords" content="C4748251, disease or syndrome, liddle syndrome 2, liddle syndrome caused by mutation in scnn1g, liddle syndrome, scnn1g-related, lidls2, scnn1g, scnn1g liddle syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Liddle syndrome is an autosomal dominant form of hypertension characterized by early onset of hypertension associated with hypokalemia, suppressed plasma renin activity, and suppressed secretion of the mineralocorticoid hormone aldosterone (summary by Hansson et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Liddle syndrome, see 177200." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1648476
|
||
ConceptID=C4748251
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Liddle syndrome 2<span class="h1sub">(LIDLS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648476</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4748251</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Liddle Syndrome, SCNN1G-Related</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SCNN1G - ID: 6340 - NCBI Gene" href="/gene/6340" class="medgenPMinfo">SCNN1G</a> (16p12.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020854" target="_blank">MONDO:0020854</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618114" target="_blank">618114</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Liddle syndrome is an autosomal dominant form of hypertension characterized by early onset of hypertension associated with hypokalemia, suppressed plasma renin activity, and suppressed secretion of the mineralocorticoid hormone aldosterone (summary by Hansson et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Liddle syndrome, see 177200. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5712"><div><strong>Hypokalemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5712</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased potassium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5712">Feature record</a> | <a href="/medgen?term=%22Hypokalemia%22%5BClinical%20Features%5D%20OR%205712%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113134"><div><strong>Metabolic alkalosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113134</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220983</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113134">Feature record</a> | <a href="/medgen?term=%22Metabolic%20alkalosis%22%5BClinical%20Features%5D%20OR%20113134%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_208996"><div><strong>Decreased circulating aldosterone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208996</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0857899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally reduced levels of aldosterone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208996">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20aldosterone%20concentration%22%5BClinical%20Features%5D%20OR%20208996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337182"><div><strong>Decreased circulating renin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337182</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845206</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased level of renin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337182">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20renin%20concentration%22%5BClinical%20Features%5D%20OR%20337182%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic alkalosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating aldosterone concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating renin concentration</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35994232">Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo W,
|
||
Ji P,
|
||
Xie Y</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2023 Mar;36(2):575-591.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1007/s40620-022-01428-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35994232" target="_blank">35994232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24474657">Phenotype-genotype analysis in two Chinese families with Liddle syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gong L,
|
||
Chen J,
|
||
Shao L,
|
||
Song W,
|
||
Hui R,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2014 Mar;41(3):1569-75.
|
||
Epub 2014 Jan 29
|
||
doi: 10.1007/s11033-013-3003-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24474657" target="_blank">24474657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19377223">Diagnosis of hypokalemia: a problem-solving approach to clinical cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assadi F</span><br />
|
||
<span class="medgenPMjournal">Iran J Kidney Dis</span>
|
||
2008 Jul;2(3):115-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19377223" target="_blank">19377223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(liddle%20syndrome%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33481180">Exploration for the real causative agents of licorice-induced pseudoaldosteronism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Makino T</span><br />
|
||
<span class="medgenPMjournal">J Nat Med</span>
|
||
2021 Mar;75(2):275-283.
|
||
Epub 2021 Jan 22
|
||
doi: 10.1007/s11418-021-01484-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33481180" target="_blank">33481180</a><a href="/pmc/articles/PMC7902566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32499649">Complement genes contribute sex-biased vulnerability in diverse disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamitaki N,
|
||
Sekar A,
|
||
Handsaker RE,
|
||
de Rivera H,
|
||
Tooley K,
|
||
Morris DL,
|
||
Taylor KE,
|
||
Whelan CW,
|
||
Tombleson P,
|
||
Loohuis LMO;
|
||
Schizophrenia Working Group of the Psychiatric Genomics Consortium,
|
||
Boehnke M,
|
||
Kimberly RP,
|
||
Kaufman KM,
|
||
Harley JB,
|
||
Langefeld CD,
|
||
Seidman CE,
|
||
Pato MT,
|
||
Pato CN,
|
||
Ophoff RA,
|
||
Graham RR,
|
||
Criswell LA,
|
||
Vyse TJ,
|
||
McCarroll SA</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2020 Jun;582(7813):577-581.
|
||
Epub 2020 May 11
|
||
doi: 10.1038/s41586-020-2277-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32499649" target="_blank">32499649</a><a href="/pmc/articles/PMC7319891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30963979">Clinical and Molecular Perspectives of Monogenic Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levanovich PE,
|
||
Diaczok A,
|
||
Rossi NF</span><br />
|
||
<span class="medgenPMjournal">Curr Hypertens Rev</span>
|
||
2020;16(2):91-107.
|
||
doi: 10.2174/1573402115666190409115330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30963979" target="_blank">30963979</a><a href="/pmc/articles/PMC7499356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27251484">Syndromes that Mimic an Excess of Mineralocorticoids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabbadin C,
|
||
Armanini D</span><br />
|
||
<span class="medgenPMjournal">High Blood Press Cardiovasc Prev</span>
|
||
2016 Sep;23(3):231-5.
|
||
Epub 2016 Jun 1
|
||
doi: 10.1007/s40292-016-0160-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27251484" target="_blank">27251484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21494136">Inherited forms of mineralocorticoid hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan-Smith Z,
|
||
Stewart PM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2011 Jun;18(3):177-85.
|
||
doi: 10.1097/MED.0b013e3283469444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21494136" target="_blank">21494136</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Liddle%20syndrome%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (43)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36639120">Pathophysiologic approach in genetic hypokalemia: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blanchard A</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2023 Apr;84(2):298-307.
|
||
Epub 2023 Jan 10
|
||
doi: 10.1016/j.ando.2022.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36639120" target="_blank">36639120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35994232">Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo W,
|
||
Ji P,
|
||
Xie Y</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2023 Mar;36(2):575-591.
|
||
Epub 2022 Aug 22
|
||
doi: 10.1007/s40620-022-01428-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35994232" target="_blank">35994232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25602517">NEDD4-2 and salt-sensitive hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rizzo F,
|
||
Staub O</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2015 Mar;24(2):111-6.
|
||
doi: 10.1097/MNH.0000000000000097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25602517" target="_blank">25602517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19377223">Diagnosis of hypokalemia: a problem-solving approach to clinical cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assadi F</span><br />
|
||
<span class="medgenPMjournal">Iran J Kidney Dis</span>
|
||
2008 Jul;2(3):115-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19377223" target="_blank">19377223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12929904">Investigating mineralocorticoid hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nussberger J</span><br />
|
||
<span class="medgenPMjournal">J Hypertens Suppl</span>
|
||
2003 May;21(2):S25-30.
|
||
doi: 10.1097/00004872-200305002-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12929904" target="_blank">12929904</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Liddle%20syndrome%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (85)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27251484">Syndromes that Mimic an Excess of Mineralocorticoids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabbadin C,
|
||
Armanini D</span><br />
|
||
<span class="medgenPMjournal">High Blood Press Cardiovasc Prev</span>
|
||
2016 Sep;23(3):231-5.
|
||
Epub 2016 Jun 1
|
||
doi: 10.1007/s40292-016-0160-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27251484" target="_blank">27251484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25602517">NEDD4-2 and salt-sensitive hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rizzo F,
|
||
Staub O</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2015 Mar;24(2):111-6.
|
||
doi: 10.1097/MNH.0000000000000097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25602517" target="_blank">25602517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23958399">Triamterene crystalline nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasr SH,
|
||
Milliner DS,
|
||
Wooldridge TD,
|
||
Sethi S</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2014 Jan;63(1):148-52.
|
||
Epub 2013 Aug 16
|
||
doi: 10.1053/j.ajkd.2013.06.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23958399" target="_blank">23958399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19377223">Diagnosis of hypokalemia: a problem-solving approach to clinical cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assadi F</span><br />
|
||
<span class="medgenPMjournal">Iran J Kidney Dis</span>
|
||
2008 Jul;2(3):115-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19377223" target="_blank">19377223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12929904">Investigating mineralocorticoid hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nussberger J</span><br />
|
||
<span class="medgenPMjournal">J Hypertens Suppl</span>
|
||
2003 May;21(2):S25-30.
|
||
doi: 10.1097/00004872-200305002-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12929904" target="_blank">12929904</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Liddle%20syndrome%202%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34414500">Monogenic forms of low-renin hypertension: clinical and molecular insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khandelwal P,
|
||
Deinum J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2022 Jul;37(7):1495-1509.
|
||
Epub 2021 Aug 20
|
||
doi: 10.1007/s00467-021-05246-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34414500" target="_blank">34414500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30963979">Clinical and Molecular Perspectives of Monogenic Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levanovich PE,
|
||
Diaczok A,
|
||
Rossi NF</span><br />
|
||
<span class="medgenPMjournal">Curr Hypertens Rev</span>
|
||
2020;16(2):91-107.
|
||
doi: 10.2174/1573402115666190409115330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30963979" target="_blank">30963979</a><a href="/pmc/articles/PMC7499356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24474657">Phenotype-genotype analysis in two Chinese families with Liddle syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gong L,
|
||
Chen J,
|
||
Shao L,
|
||
Song W,
|
||
Hui R,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">Mol Biol Rep</span>
|
||
2014 Mar;41(3):1569-75.
|
||
Epub 2014 Jan 29
|
||
doi: 10.1007/s11033-013-3003-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24474657" target="_blank">24474657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17275579">Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ariceta G,
|
||
Rodríguez-Soriano J</span><br />
|
||
<span class="medgenPMjournal">Semin Nephrol</span>
|
||
2006 Nov;26(6):422-33.
|
||
doi: 10.1016/j.semnephrol.2006.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17275579" target="_blank">17275579</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2577273">Dysphoric and depressive symptoms in chronic schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirsch SR,
|
||
Jolley AG,
|
||
Barnes TR,
|
||
Liddle PF,
|
||
Curson DA,
|
||
Patel A,
|
||
York A,
|
||
Bercu S,
|
||
Patel M</span><br />
|
||
<span class="medgenPMjournal">Schizophr Res</span>
|
||
1989 May-Jun;2(3):259-64.
|
||
doi: 10.1016/0920-9964(89)90002-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2577273" target="_blank">2577273</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Liddle%20syndrome%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33545711">SARS-CoV-2 evolution during treatment of chronic infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kemp SA,
|
||
Collier DA,
|
||
Datir RP,
|
||
Ferreira IATM,
|
||
Gayed S,
|
||
Jahun A,
|
||
Hosmillo M,
|
||
Rees-Spear C,
|
||
Mlcochova P,
|
||
Lumb IU,
|
||
Roberts DJ,
|
||
Chandra A,
|
||
Temperton N;
|
||
CITIID-NIHR BioResource COVID-19 Collaboration;
|
||
COVID-19 Genomics UK (COG-UK) Consortium,
|
||
Sharrocks K,
|
||
Blane E,
|
||
Modis Y,
|
||
Leigh KE,
|
||
Briggs JAG,
|
||
van Gils MJ,
|
||
Smith KGC,
|
||
Bradley JR,
|
||
Smith C,
|
||
Doffinger R,
|
||
Ceron-Gutierrez L,
|
||
Barcenas-Morales G,
|
||
Pollock DD,
|
||
Goldstein RA,
|
||
Smielewska A,
|
||
Skittrall JP,
|
||
Gouliouris T,
|
||
Goodfellow IG,
|
||
Gkrania-Klotsas E,
|
||
Illingworth CJR,
|
||
McCoy LE,
|
||
Gupta RK</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2021 Apr;592(7853):277-282.
|
||
Epub 2021 Feb 5
|
||
doi: 10.1038/s41586-021-03291-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33545711" target="_blank">33545711</a><a href="/pmc/articles/PMC7610568" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29792170">Liddle's-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamaguchi E,
|
||
Yoshikawa K,
|
||
Nakaya I,
|
||
Kato K,
|
||
Miyasato Y,
|
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Nakagawa T,
|
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Kakizoe Y,
|
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Mukoyama M,
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Soma J</span><br />
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<span class="medgenPMjournal">BMC Nephrol</span>
|
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2018 May 23;19(1):122.
|
||
doi: 10.1186/s12882-018-0916-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29792170" target="_blank">29792170</a><a href="/pmc/articles/PMC5966895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25278498">Validation and optimization of novel high-throughput assays for human epithelial sodium channels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen MX,
|
||
Gatfield K,
|
||
Ward E,
|
||
Downie D,
|
||
Sneddon HF,
|
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Walsh S,
|
||
Powell AJ,
|
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Laine D,
|
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Carr M,
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Trezise D</span><br />
|
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<span class="medgenPMjournal">J Biomol Screen</span>
|
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2015 Feb;20(2):242-53.
|
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Epub 2014 Oct 2
|
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doi: 10.1177/1087057114552399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25278498" target="_blank">25278498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2577273">Dysphoric and depressive symptoms in chronic schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirsch SR,
|
||
Jolley AG,
|
||
Barnes TR,
|
||
Liddle PF,
|
||
Curson DA,
|
||
Patel A,
|
||
York A,
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||
Bercu S,
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Patel M</span><br />
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<span class="medgenPMjournal">Schizophr Res</span>
|
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1989 May-Jun;2(3):259-64.
|
||
doi: 10.1016/0920-9964(89)90002-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2577273" target="_blank">2577273</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/190251">Plasma pregnenolone and 17-OH-pregnenolone in patients with adrenal tumors, ACTH excess, or idiopathic hirsutism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKenna TJ,
|
||
Miller RB,
|
||
Liddle GW</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
1977 Feb;44(2):231-6.
|
||
doi: 10.1210/jcem-44-2-231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/190251" target="_blank">190251</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Liddle%20syndrome%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38099339">A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu Y,
|
||
Liu X,
|
||
Sun L,
|
||
Zhang D,
|
||
Fan P,
|
||
Yang K,
|
||
Zhang L,
|
||
Liu Y,
|
||
Zhou X</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2024 Feb;29(2)
|
||
Epub 2023 Dec 15
|
||
doi: 10.3892/mmr.2023.13142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38099339" target="_blank">38099339</a><a href="/pmc/articles/PMC10784729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28718682">Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang KQ,
|
||
Lu CX,
|
||
Fan P,
|
||
Zhang Y,
|
||
Meng X,
|
||
Dong XQ,
|
||
Luo F,
|
||
Liu YX,
|
||
Zhang HM,
|
||
Wu HY,
|
||
Cai J,
|
||
Zhang X,
|
||
Zhou XL</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Hypertens</span>
|
||
2018;40(2):107-111.
|
||
Epub 2017 Jul 18
|
||
doi: 10.1080/10641963.2017.1334799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28718682" target="_blank">28718682</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Liddle%20syndrome%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4748251%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4748251%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4748251%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=618114" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Liddle%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(liddle%20syndrome%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600761" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6340[geneid]" target="_blank">View SCNN1G variations in ClinVar</a></li><li><a href="/nuccore/227430347" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=618114" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/liddle_syndrome_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Liddle%20syndrome%202" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
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|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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|
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<ul>
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<li>
|
||
<a href="/pubmed/clinical?term=Liddle%20syndrome%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Liddle%20syndrome%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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|
||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
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<h3>Related information</h3>
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||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648476" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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||
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|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1648476" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4748251[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4748251[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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|
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||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1648476" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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||
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||
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1648476" ref="log$=recordlinks">OMIM(Genes)</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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||
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|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1648476" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1648476" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1648476" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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|
||
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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