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<meta name="keywords" content="C0403555, disease or syndrome, facial palsy, partial, with urinary abnormalities, hydronephrosis with peculiar facial expression, hydronephrosis-inverted smile, hydronephrosis-inverted smile syndrome, inverted smile and occult neuropathic bladder, inverted smile-neurogenic bladder, inverted smile-neurogenic bladder syndrome, ochoa syndrome, partial facial palsy with urinary abnormalities, ufs, ufs1, urofacial ochoa's syndrome, urofacial syndrome, urofacial syndrome 1, 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=98015
|
||
ConceptID=C0403555
|
||
-->
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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">Ochoa syndrome<span class="h1sub">(UFS; UFS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98015</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:">C0403555</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>HYDRONEPHROSIS WITH PECULIAR FACIAL EXPRESSION; INVERTED SMILE AND OCCULT NEUROPATHIC BLADDER; Partial facial palsy with urinary abnormalities; Urofacial Ochoa's syndrome; Urofacial Syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ochoa syndrome (236533008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000463" target="_blank">MONDO:0000463</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/236730" target="_blank">236730</a>; <a href="https://omim.org/entry/613469" target="_blank">613469</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS236730" target="_blank">PS236730</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2704">ORPHA2704</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_101">
|
||
<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 MedlinePlus Genetics</strong><br />Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.<br /><br />The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure.<br /><br />Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention.<br /><br />Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus. <a target="_blank" href="https://medlineplus.gov/genetics/condition/ochoa-syndrome">https://medlineplus.gov/genetics/condition/ochoa-syndrome</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_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_12015"><div><strong>Urethral obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12015</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.">C0041972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Obstruction of the flow of urine through the urethra.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12015">Feature record</a> | <a href="/medgen?term=%22Urethral%20obstruction%22%5BClinical%20Features%5D%20OR%2012015%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_120573"><div><strong>Urethral valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120573</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.">C0266345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal membrane obstructing the urethra.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120573">Feature record</a> | <a href="/medgen?term=%22Urethral%20valve%22%5BClinical%20Features%5D%20OR%20120573%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101073"><div><strong>Hydroureter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101073</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.">C0521620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distention of the ureter with urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101073">Feature record</a> | <a href="/medgen?term=%22Hydroureter%22%5BClinical%20Features%5D%20OR%20101073%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_98409"><div><strong>Abnormal facial shape</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98409</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.">C0424503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal morphology (form) of the face or its components.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98409">Feature record</a> | <a href="/medgen?term=%22Abnormal%20facial%20shape%22%5BClinical%20Features%5D%20OR%2098409%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870752"><div><strong>Abnormal facial expression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870752</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.">C4025209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870752">Feature record</a> | <a href="/medgen?term=%22Abnormal%20facial%20expression%22%5BClinical%20Features%5D%20OR%20870752%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_870752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal facial expression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal facial shape</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_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</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_101073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydroureter</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_12015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urethral obstruction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urethral valve</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0403555[DISCUI]&test_type=Clinical" ref="ncbi_uid=98015">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98015" target="_blank" href="/omim/236730">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK154138/" ref="ncbi_uid=98015">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98015" ref="ncbi_uid=98015">V</a></span></span><span class="TLline">Ochoa syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842448" ref="tree=MeSH" title="MedGen record for Syndromic renal or urinary tract malformation">Syndromic renal or urinary tract malformation</a></span><ul><li><span class="matched_ds">Ochoa syndrome</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=2465&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Ochoa syndrome</span> in Orphanet.</div></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/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/22390114">More than meets the smile: facial muscle expression in children with Ochoa syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganesan I,
|
||
Thomas T</span><br />
|
||
<span class="medgenPMjournal">Med J Malaysia</span>
|
||
2011 Dec;66(5):507-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22390114" target="_blank">22390114</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12707951">High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang CY,
|
||
Davoodi-Semiromi A,
|
||
Shi JD,
|
||
Yang P,
|
||
Huang YQ,
|
||
Agundez JA,
|
||
Moran JM,
|
||
Ochoa B,
|
||
Hawkins-Lee B,
|
||
She JX</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 May 15;119A(1):9-14.
|
||
doi: 10.1002/ajmg.a.20042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12707951" target="_blank">12707951</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ochoa%20syndrome%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 (8)</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/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/20519791">Ochoa or Urofacial syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutay NR,
|
||
Kulkarni R,
|
||
Arya MK</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2010 May;47(5):445-6.
|
||
doi: 10.1007/s13312-010-0067-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20519791" target="_blank">20519791</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 class="nl"><a target="_blank" href="/pubmed/1640526">The urofacial (Ochoa) syndrome revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochoa B</span><br />
|
||
<span class="medgenPMjournal">J Urol</span>
|
||
1992 Aug;148(2 Pt 2):580-3.
|
||
doi: 10.1016/s0022-5347(17)36659-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1640526" target="_blank">1640526</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ochoa%20syndrome%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 (15)</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 class="nl"><a target="_blank" href="/pubmed/9199567">Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang CY,
|
||
Hawkins-Lee B,
|
||
Ochoa B,
|
||
Walker RD,
|
||
She JX</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1997 Jun;60(6):1461-7.
|
||
doi: 10.1086/515469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9199567" target="_blank">9199567</a><a href="/pmc/articles/PMC1716147" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ochoa%20syndrome%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33647194">Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cesur Baltacı HN,
|
||
Taşdelen E,
|
||
Topçu V,
|
||
Eminoğlu FT,
|
||
Karabulut HG</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2021 May 26;34(5):653-657.
|
||
Epub 2021 Feb 26
|
||
doi: 10.1515/jpem-2020-0367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33647194" target="_blank">33647194</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/21450525">Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Badr W,
|
||
Al Bader S,
|
||
Otto E,
|
||
Hildebrandt F,
|
||
Ackley T,
|
||
Peng W,
|
||
Xu J,
|
||
Li J,
|
||
Owens KM,
|
||
Bloom D,
|
||
Innis JW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2011 Oct;7(5):569-73.
|
||
Epub 2011 Mar 29
|
||
doi: 10.1016/j.jpurol.2011.02.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21450525" target="_blank">21450525</a><a href="/pmc/articles/PMC3157539" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11446407">Three new European cases of urofacial (Ochoa) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Minaur S,
|
||
Oliver F,
|
||
Yanez JM,
|
||
Soriano JR,
|
||
Quinn F,
|
||
Reardon W</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2001 Jul;10(3):165-70.
|
||
doi: 10.1097/00019605-200107000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11446407" target="_blank">11446407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/474623">Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elejalde BR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1979;3(1):97-108.
|
||
doi: 10.1002/ajmg.1320030114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/474623" target="_blank">474623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ochoa%20syndrome%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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/21450525">Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Badr W,
|
||
Al Bader S,
|
||
Otto E,
|
||
Hildebrandt F,
|
||
Ackley T,
|
||
Peng W,
|
||
Xu J,
|
||
Li J,
|
||
Owens KM,
|
||
Bloom D,
|
||
Innis JW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2011 Oct;7(5):569-73.
|
||
Epub 2011 Mar 29
|
||
doi: 10.1016/j.jpurol.2011.02.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21450525" target="_blank">21450525</a><a href="/pmc/articles/PMC3157539" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16752812">The urofacial (Ochoa) syndrome--first case in the central European population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skálová S,
|
||
Rejtar I,
|
||
Novák I,
|
||
Jüttnerová V</span><br />
|
||
<span class="medgenPMjournal">Prague Med Rep</span>
|
||
2006;107(1):125-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16752812" target="_blank">16752812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14648341">Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochoa B</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2004 Jan;19(1):6-12.
|
||
Epub 2003 Nov 25
|
||
doi: 10.1007/s00467-003-1291-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14648341" target="_blank">14648341</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ochoa%20syndrome%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=C0403555%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0403555%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0403555%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0403555%5bDISCUI%5d" target="_blank">See all (2)</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/phenotypicSeries/PS236730" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2704" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ochoa%20syndrome" target="_blank">ClinicalTrials.gov</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="http://www.diseaseinfosearch.org/Ochoa+syndrome/5288" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/urofacial_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Ochoa%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/ochoa-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/104/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>
|
||
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|
||
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|
||
<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=Ochoa%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Ochoa%20syndrome%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">
|
||
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|
||
<h3>Related information</h3>
|
||
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|
||
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||
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|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=98015" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0403555[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0403555[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
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|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=98015" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=98015" ref="log$=recordlinks">OMIM</a>
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||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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||
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||
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|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=98015" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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||
<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=98015" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=98015" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
|
||
|
||
<div class="portlet">
|
||
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|
||
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|
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<h3>Recent activity</h3>
|
||
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|
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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">
|
||
Clear
|
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|
||
<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">
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||
Turn Off
|
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