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<meta name="keywords" content="C3554520, disease or syndrome, lrig2, lrig2 ochoa syndrome, lrig2-related urofacial syndrome, ochoa syndrome caused by mutation in lrig2, ufs2, urofacial syndrome 2, urofacial syndrome type 2, 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="Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction can present before birth as megacystis. In infancy and later childhood, UFS can present with a poor urinary stream and dribbling incontinence; incomplete bladder emptying can lead to urinary infection with progressive kidney failure. Investigations after birth can show abnormal bladder contractility and vesicoureteral reflux of urine into the ureter and renal pelvis. Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) has also been documented." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=767434
|
||
ConceptID=C3554520
|
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-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK154138/bin/urofacial-Image002.gif" src-large="/books/NBK154138/bin/urofacial-Image002.jpg" /></a><br /><a href="/books/NBK154138/figure/urofacial.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK154138/bin/urofacial-Image003.gif" src-large="/books/NBK154138/bin/urofacial-Image003.jpg" /></a><br /><a href="/books/NBK154138/figure/urofacial.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Urofacial syndrome 2<span class="h1sub">(UFS2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767434</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:">C3554520</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LRIG2-Related Urofacial Syndrome; UFS2</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="LRIG2 - ID: 9860 - NCBI Gene" href="/gene/9860" class="medgenPMinfo">LRIG2</a> (1p13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014049" target="_blank">MONDO:0014049</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615112" target="_blank">615112</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>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK154138" target="_blank">Urofacial Syndrome</a></div><div>Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction can present before birth as megacystis. In infancy and later childhood, UFS can present with a poor urinary stream and dribbling incontinence; incomplete bladder emptying can lead to urinary infection with progressive kidney failure. Investigations after birth can show abnormal bladder contractility and vesicoureteral reflux of urine into the ureter and renal pelvis. Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) has also been documented. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK154138#urofacial.Summary" target="NBK154138">Summary</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Diagnosis" target="NBK154138">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Clinical_Characteristics" target="NBK154138">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Genetically_Related_Allelic_Di" target="NBK154138">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Differential_Diagnosis" target="NBK154138">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Management" target="NBK154138">Management</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Genetic_Counseling" target="NBK154138">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Resources" target="NBK154138">Resources</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Molecular_Genetics" target="NBK154138">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.Chapter_Notes" target="NBK154138">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK154138#urofacial.References" target="NBK154138">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
William G Newman | Adrian S Woolf | Glenda M Beaman<i>, et. al.</i> <a href="/books/NBK154138" target="NBK154138" title="NCBI Bookshelf: Urofacial Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013).
|
||
For a discussion of genetic heterogeneity of UFS, see UFS1 (236730). <a target="_blank" href="http://www.omim.org/entry/615112">http://www.omim.org/entry/615112</a></div></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_8649"><div><strong>Enuresis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8649</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.">C0014394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8649">Feature record</a> | <a href="/medgen?term=%22Enuresis%22%5BClinical%20Features%5D%20OR%208649%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42531"><div><strong>Hydronephrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42531</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.">C0020295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe distention of the kidney with dilation of the renal pelvis and calices.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42531">Feature record</a> | <a href="/medgen?term=%22Hydronephrosis%22%5BClinical%20Features%5D%20OR%2042531%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21852"><div><strong>Vesicoureteral reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21852</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.">C0042580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21852">Feature record</a> | <a href="/medgen?term=%22Vesicoureteral%20reflux%22%5BClinical%20Features%5D%20OR%2021852%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39315"><div><strong>Urinary urgency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39315</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.">C0085606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Urge incontinence is the strong, sudden need to urinate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39315">Feature record</a> | <a href="/medgen?term=%22Urinary%20urgency%22%5BClinical%20Features%5D%20OR%2039315%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120466"><div><strong>Recurrent urinary tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120466</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.">C0262655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated infections of the urinary tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120466">Feature record</a> | <a href="/medgen?term=%22Recurrent%20urinary%20tract%20infections%22%5BClinical%20Features%5D%20OR%20120466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_607647"><div><strong>Bladder trabeculation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>607647</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.">C0429803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/607647">Feature record</a> | <a href="/medgen?term=%22Bladder%20trabeculation%22%5BClinical%20Features%5D%20OR%20607647%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373204"><div><strong>Spastic/hyperactive bladder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373204</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.">C1836904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373204">Feature record</a> | <a href="/medgen?term=%22Spastic%2Fhyperactive%20bladder%22%5BClinical%20Features%5D%20OR%20373204%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343318"><div><strong>Megacystis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343318</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.">C1855311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dilatation of the bladder postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343318">Feature record</a> | <a href="/medgen?term=%22Megacystis%22%5BClinical%20Features%5D%20OR%20343318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1101"><div><strong>Constipation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1101</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.">C0009806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infrequent or difficult evacuation of feces.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1101">Feature record</a> | <a href="/medgen?term=%22Constipation%22%5BClinical%20Features%5D%20OR%201101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65891"><div><strong>Facial grimacing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65891</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.">C0234853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Facial grimacing is characterized by a distorted, distressed look. The brow is more wrinkled, as is the area around the mouth. Eyes may be squeezed shut.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65891">Feature record</a> | <a href="/medgen?term=%22Facial%20grimacing%22%5BClinical%20Features%5D%20OR%2065891%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65891" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Facial grimacing</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constipation</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_607647" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bladder trabeculation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Enuresis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydronephrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megacystis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent urinary tract infections</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373204" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic/hyperactive bladder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary urgency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vesicoureteral reflux</a></span></li></ul></li></ul></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/25946049">The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rondon AV,
|
||
Leslie B,
|
||
Netto JM,
|
||
Freitas RG,
|
||
Ortiz V,
|
||
Macedo Junior A</span><br />
|
||
<span class="medgenPMjournal">Einstein (Sao Paulo)</span>
|
||
2015 Apr-Jun;13(2):279-82.
|
||
Epub 2015 May 1
|
||
doi: 10.1590/S1679-45082015RC2990.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25946049" target="_blank">25946049</a><a href="/pmc/articles/PMC4943824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25145936">Urinary tract effects of HPSE2 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stuart HM,
|
||
Roberts NA,
|
||
Hilton EN,
|
||
McKenzie EA,
|
||
Daly SB,
|
||
Hadfield KD,
|
||
Rahal JS,
|
||
Gardiner NJ,
|
||
Tanley SW,
|
||
Lewis MA,
|
||
Sites E,
|
||
Angle B,
|
||
Alves C,
|
||
Lourenço T,
|
||
Rodrigues M,
|
||
Calado A,
|
||
Amado M,
|
||
Guerreiro N,
|
||
Serras I,
|
||
Beetz C,
|
||
Varga RE,
|
||
Silay MS,
|
||
Darlow JM,
|
||
Dobson MG,
|
||
Barton DE,
|
||
Hunziker M,
|
||
Puri P,
|
||
Feather SA,
|
||
Goodship JA,
|
||
Goodship TH,
|
||
Lambert HJ,
|
||
Cordell HJ;
|
||
UK VUR Study Group,
|
||
Saggar A,
|
||
Kinali M;
|
||
4C Study Group,
|
||
Lorenz C,
|
||
Moeller K,
|
||
Schaefer F,
|
||
Bayazit AK,
|
||
Weber S,
|
||
Newman WG,
|
||
Woolf AS</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2015 Apr;26(4):797-804.
|
||
Epub 2014 Aug 21
|
||
doi: 10.1681/ASN.2013090961.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25145936" target="_blank">25145936</a><a href="/pmc/articles/PMC4378092" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24966895">Clinical and genetic characteristics for the Urofacial Syndrome (UFS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tu Y,
|
||
Yang P,
|
||
Yang J,
|
||
Xu Y,
|
||
Xiong F,
|
||
Yu Q,
|
||
Gu W,
|
||
Pond D,
|
||
Mendelsohn N,
|
||
Lachmeijer GA,
|
||
Zhang S,
|
||
Wang CY</span><br />
|
||
<span class="medgenPMjournal">Int J Clin Exp Pathol</span>
|
||
2014;7(5):1842-8.
|
||
Epub 2014 Apr 15
|
||
<span class="bold">PMID: </span><a href="/pubmed/24966895" target="_blank">24966895</a><a href="/pmc/articles/PMC4069969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23313374">LRIG2 mutations cause urofacial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stuart HM,
|
||
Roberts NA,
|
||
Burgu B,
|
||
Daly SB,
|
||
Urquhart JE,
|
||
Bhaskar S,
|
||
Dickerson JE,
|
||
Mermerkaya M,
|
||
Silay MS,
|
||
Lewis MA,
|
||
Olondriz MB,
|
||
Gener B,
|
||
Beetz C,
|
||
Varga RE,
|
||
Gülpınar O,
|
||
Süer E,
|
||
Soygür T,
|
||
Ozçakar ZB,
|
||
Yalçınkaya F,
|
||
Kavaz A,
|
||
Bulum B,
|
||
Gücük A,
|
||
Yue WW,
|
||
Erdogan F,
|
||
Berry A,
|
||
Hanley NA,
|
||
McKenzie EA,
|
||
Hilton EN,
|
||
Woolf AS,
|
||
Newman WG</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2013 Feb 7;92(2):259-64.
|
||
Epub 2013 Jan 11
|
||
doi: 10.1016/j.ajhg.2012.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23313374" target="_blank">23313374</a><a href="/pmc/articles/PMC3567269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20001446">Role of spinning top urethra in dysfunctional voiding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kutlu O,
|
||
Koksal IT,
|
||
Guntekin E,
|
||
Kukul E</span><br />
|
||
<span class="medgenPMjournal">Scand J Urol Nephrol</span>
|
||
2010 Feb;44(1):32-7.
|
||
doi: 10.3109/00365590903445223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20001446" target="_blank">20001446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urofacial%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33558177">Urofacial (ochoa) syndrome: A literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osorio S,
|
||
Rivillas ND,
|
||
Martinez JA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Apr;17(2):246-254.
|
||
Epub 2021 Jan 24
|
||
doi: 10.1016/j.jpurol.2021.01.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33558177" target="_blank">33558177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29503278">Recurrent UTI - Make the Child Smile!</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinha R,
|
||
Banerji N,
|
||
Saha S</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2018 Feb 15;55(2):169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29503278" target="_blank">29503278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24966895">Clinical and genetic characteristics for the Urofacial Syndrome (UFS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tu Y,
|
||
Yang P,
|
||
Yang J,
|
||
Xu Y,
|
||
Xiong F,
|
||
Yu Q,
|
||
Gu W,
|
||
Pond D,
|
||
Mendelsohn N,
|
||
Lachmeijer GA,
|
||
Zhang S,
|
||
Wang CY</span><br />
|
||
<span class="medgenPMjournal">Int J Clin Exp Pathol</span>
|
||
2014;7(5):1842-8.
|
||
Epub 2014 Apr 15
|
||
<span class="bold">PMID: </span><a href="/pubmed/24966895" target="_blank">24966895</a><a href="/pmc/articles/PMC4069969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22382233">Urofacial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akl KF,
|
||
Al Momany HM</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2012 Mar;23(2):346-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22382233" target="_blank">22382233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18060224">Urofacial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Hazmi HH,
|
||
Hammad AA,
|
||
Jednak R,
|
||
El-Sherbiny MT</span><br />
|
||
<span class="medgenPMjournal">Saudi Med J</span>
|
||
2007 Dec;28(12):1895-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18060224" target="_blank">18060224</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urofacial%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 (10)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25946049">The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rondon AV,
|
||
Leslie B,
|
||
Netto JM,
|
||
Freitas RG,
|
||
Ortiz V,
|
||
Macedo Junior A</span><br />
|
||
<span class="medgenPMjournal">Einstein (Sao Paulo)</span>
|
||
2015 Apr-Jun;13(2):279-82.
|
||
Epub 2015 May 1
|
||
doi: 10.1590/S1679-45082015RC2990.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25946049" target="_blank">25946049</a><a href="/pmc/articles/PMC4943824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19669792">Ochoa syndrome: a spectrum of urofacial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aydogdu O,
|
||
Burgu B,
|
||
Demirel F,
|
||
Soygur T,
|
||
Ozcakar ZB,
|
||
Yalcinkaya F,
|
||
Tekgul S</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2010 Apr;169(4):431-5.
|
||
Epub 2009 Aug 11
|
||
doi: 10.1007/s00431-009-1042-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19669792" target="_blank">19669792</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urofacial%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30885509">Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts NA,
|
||
Hilton EN,
|
||
Lopes FM,
|
||
Singh S,
|
||
Randles MJ,
|
||
Gardiner NJ,
|
||
Chopra K,
|
||
Coletta R,
|
||
Bajwa Z,
|
||
Hall RJ,
|
||
Yue WW,
|
||
Schaefer F,
|
||
Weber S,
|
||
Henriksson R,
|
||
Stuart HM,
|
||
Hedman H,
|
||
Newman WG,
|
||
Woolf AS</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2019 May;95(5):1138-1152.
|
||
Epub 2019 Mar 8
|
||
doi: 10.1016/j.kint.2018.11.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30885509" target="_blank">30885509</a><a href="/pmc/articles/PMC6481288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25946049">The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rondon AV,
|
||
Leslie B,
|
||
Netto JM,
|
||
Freitas RG,
|
||
Ortiz V,
|
||
Macedo Junior A</span><br />
|
||
<span class="medgenPMjournal">Einstein (Sao Paulo)</span>
|
||
2015 Apr-Jun;13(2):279-82.
|
||
Epub 2015 May 1
|
||
doi: 10.1590/S1679-45082015RC2990.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25946049" target="_blank">25946049</a><a href="/pmc/articles/PMC4943824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19669792">Ochoa syndrome: a spectrum of urofacial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aydogdu O,
|
||
Burgu B,
|
||
Demirel F,
|
||
Soygur T,
|
||
Ozcakar ZB,
|
||
Yalcinkaya F,
|
||
Tekgul S</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2010 Apr;169(4):431-5.
|
||
Epub 2009 Aug 11
|
||
doi: 10.1007/s00431-009-1042-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19669792" target="_blank">19669792</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urofacial%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30885509">Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roberts NA,
|
||
Hilton EN,
|
||
Lopes FM,
|
||
Singh S,
|
||
Randles MJ,
|
||
Gardiner NJ,
|
||
Chopra K,
|
||
Coletta R,
|
||
Bajwa Z,
|
||
Hall RJ,
|
||
Yue WW,
|
||
Schaefer F,
|
||
Weber S,
|
||
Henriksson R,
|
||
Stuart HM,
|
||
Hedman H,
|
||
Newman WG,
|
||
Woolf AS</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2019 May;95(5):1138-1152.
|
||
Epub 2019 Mar 8
|
||
doi: 10.1016/j.kint.2018.11.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30885509" target="_blank">30885509</a><a href="/pmc/articles/PMC6481288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27855655">Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fadda A,
|
||
Butt F,
|
||
Tomei S,
|
||
Deola S,
|
||
Lo B,
|
||
Robay A,
|
||
Al-Shakaki A,
|
||
Al-Hajri N,
|
||
Crystal R,
|
||
Kambouris M,
|
||
Wang E,
|
||
Marincola FM,
|
||
Fakhro KA,
|
||
Cugno C</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2016 Nov 17;17(1):84.
|
||
doi: 10.1186/s12881-016-0346-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27855655" target="_blank">27855655</a><a href="/pmc/articles/PMC5114772" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23832138">Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woolf AS,
|
||
Stuart HM,
|
||
Roberts NA,
|
||
McKenzie EA,
|
||
Hilton EN,
|
||
Newman WG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2014 Apr;29(4):513-8.
|
||
Epub 2013 Jul 9
|
||
doi: 10.1007/s00467-013-2552-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23832138" target="_blank">23832138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20001446">Role of spinning top urethra in dysfunctional voiding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kutlu O,
|
||
Koksal IT,
|
||
Guntekin E,
|
||
Kukul E</span><br />
|
||
<span class="medgenPMjournal">Scand J Urol Nephrol</span>
|
||
2010 Feb;44(1):32-7.
|
||
doi: 10.3109/00365590903445223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20001446" target="_blank">20001446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Urofacial%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<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">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3554520%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C3554520%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C3554520%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3554520%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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>
|
||
<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=615112" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Urofacial%20syndrome%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=608869" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9860[geneid]" target="_blank">View LRIG2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615112" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/urofacial_syndrome_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Urofacial%20syndrome%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15907/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/23967498" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Urofacial%20syndrome%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Urofacial%20syndrome%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=767434" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=767434" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3554520[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3554520[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=767434" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=767434" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=767434" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=767434" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=767434" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=767434" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=767434" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<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">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc5155a68b6b5afc38c463">Urofacial syndrome 2</a>
|
||
<div class="ralinkpop offscreen_noflow">Urofacial syndrome 2<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc5154f4a390645e0880c8">C3554520[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc5153f4a390645e087c31">C0268514[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(4)</span></a>
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