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<meta name="keywords" content="C0220987, disease or syndrome, hereditary orotic aciduria, oprt and odc deficiency, orotate phosphoribosyltransferase and omp decarboxylase deficiency, orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency, orotic aciduria, orotic aciduria 1, orotic aciduria ii (formerly), orotic aciduria type 1, orotic aciduria without megaloblastic anaemia, orotic aciduria without megaloblastic anemia, oroticaciduria, oroticaciduria 1, orotidylic decarboxylase deficiency, orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency, ump synthase deficiency, ump synthtase deficiency, umps, umps deficiency, uridine monophosphate synthase deficiency, uridine monophosphate synthetase deficiency, 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="Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=472940
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ConceptID=C0220987
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary orotic aciduria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>472940</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:">C0220987</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>Hereditary Orotic Aciduria; hereditary orotic aciduria; OPRT and ODC deficiency; orotate phosphoribosyltransferase and OMP decarboxylase deficiency; orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency; orotic aciduria; orotic aciduria 1; orotic aciduria II (formerly); orotic aciduria type 1; orotic aciduria without megaloblastic Anaemia; orotic aciduria without megaloblastic Anemia; oroticaciduria; oroticaciduria 1; orotidylic decarboxylase deficiency; orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; Ump synthase deficiency; UMP synthtase deficiency; UMPS; Umps deficiency; uridine monophosphate synthase deficiency; uridine monophosphate synthetase deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary orotic aciduria (16242007)</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="UMPS - ID: 7372 - NCBI Gene" href="/gene/7372" class="medgenPMinfo">UMPS</a> (3q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009797" target="_blank">MONDO:0009797</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/258900" target="_blank">258900</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_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_5488"><div><strong>Hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5488</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.">C0018965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78642"><div><strong>Oroticaciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78642</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.">C0268128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of orotic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78642">Feature record</a> | <a href="/medgen?term=%22Oroticaciduria%22%5BClinical%20Features%5D%20OR%2078642%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480256"><div><strong>Orotic acid crystalluria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480256</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.">C3278626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Formation of crystals owing to an increased concentration of orotic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480256">Feature record</a> | <a href="/medgen?term=%22Orotic%20acid%20crystalluria%22%5BClinical%20Features%5D%20OR%20480256%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</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.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66371"><div><strong>Anisocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66371</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.">C0221278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased variability in the size of erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66371">Feature record</a> | <a href="/medgen?term=%22Anisocytosis%22%5BClinical%20Features%5D%20OR%2066371%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_67451"><div><strong>Poikilocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67451</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.">C0221281</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormally shaped erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67451">Feature record</a> | <a href="/medgen?term=%22Poikilocytosis%22%5BClinical%20Features%5D%20OR%2067451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87187"><div><strong>Hypochromia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87187</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.">C0333912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87187">Feature record</a> | <a href="/medgen?term=%22Hypochromia%22%5BClinical%20Features%5D%20OR%2087187%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867366"><div><strong>Pyrimidine-responsive megaloblastic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867366</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.">C4021731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867366">Feature record</a> | <a href="/medgen?term=%22Pyrimidine-responsive%20megaloblastic%20anemia%22%5BClinical%20Features%5D%20OR%20867366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870827"><div><strong>Folate-unresponsive megaloblastic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870827</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.">C4025287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870827">Feature record</a> | <a href="/medgen?term=%22Folate-unresponsive%20megaloblastic%20anemia%22%5BClinical%20Features%5D%20OR%20870827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395415"><div><strong>Impaired T cell function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395415</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.">C1860127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395415">Feature record</a> | <a href="/medgen?term=%22Impaired%20T%20cell%20function%22%5BClinical%20Features%5D%20OR%20395415%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892392"><div><strong>Reduced orotidine 5-prime phosphate decarboxylase level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892392</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.">C4025636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal decrease in orotidine 5'-phosphate decarboxylase level.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892392">Feature record</a> | <a href="/medgen?term=%22Reduced%20orotidine%205-prime%20phosphate%20decarboxylase%20level%22%5BClinical%20Features%5D%20OR%20892392%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anisocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Folate-unresponsive megaloblastic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypochromia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poikilocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyrimidine-responsive megaloblastic anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced orotidine 5-prime phosphate decarboxylase level</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</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_5488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orotic acid crystalluria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oroticaciduria</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired T cell function</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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></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 unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0220987[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=472940">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=472940" ref="ncbi_uid=472940">V</a></span></span><span class="TLline">Hereditary orotic aciduria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="matched_ds">Hereditary orotic aciduria</span></li></ul></li></ul></li></ul></li></ul></div></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/25030255">Inborn errors of pyrimidine metabolism: clinical update and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balasubramaniam S,
|
||
Duley JA,
|
||
Christodoulou J</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 Sep;37(5):687-98.
|
||
Epub 2014 Jul 17
|
||
doi: 10.1007/s10545-014-9742-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25030255" target="_blank">25030255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22019295">Reference intervals for orotic acid in urine, plasma and dried blood spot using hydrophilic interaction liquid chromatography-tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Apolito O,
|
||
Garofalo D,
|
||
la Marca G,
|
||
Dello Russo A,
|
||
Corso G</span><br />
|
||
<span class="medgenPMjournal">J Chromatogr B Analyt Technol Biomed Life Sci</span>
|
||
2012 Feb 1;883-884:155-60.
|
||
Epub 2011 Oct 6
|
||
doi: 10.1016/j.jchromb.2011.09.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22019295" target="_blank">22019295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9061575">Pyrimidine metabolism in hereditary orotic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sumi S,
|
||
Suchi M,
|
||
Kidouchi K,
|
||
Morishita H,
|
||
Ohba S,
|
||
Wada Y</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1997 Mar;20(1):104-5.
|
||
doi: 10.1023/a:1005330127995.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9061575" target="_blank">9061575</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20orotic%20aciduria%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28205048">Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wortmann SB,
|
||
Chen MA,
|
||
Colombo R,
|
||
Pontoglio A,
|
||
Alhaddad B,
|
||
Botto LD,
|
||
Yuzyuk T,
|
||
Coughlin CR,
|
||
Descartes M,
|
||
Grűnewald S,
|
||
Maranda B,
|
||
Mills PB,
|
||
Pitt J,
|
||
Potente C,
|
||
Rodenburg R,
|
||
Kluijtmans LA,
|
||
Sampath S,
|
||
Pai EF,
|
||
Wevers RA,
|
||
Tiller GE;
|
||
additional individual contributors</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 May;40(3):423-431.
|
||
Epub 2017 Feb 15
|
||
doi: 10.1007/s10545-017-0015-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28205048" target="_blank">28205048</a><a href="/pmc/articles/PMC5393157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27027693">In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Med Lett Drugs Ther</span>
|
||
2016 Mar 28;58(1491):e49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27027693" target="_blank">27027693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12450653">Diagnostic value of urinary orotic acid levels: applicable separation methods.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salerno C,
|
||
Crifò C</span><br />
|
||
<span class="medgenPMjournal">J Chromatogr B Analyt Technol Biomed Life Sci</span>
|
||
2002 Dec 5;781(1-2):57-71.
|
||
doi: 10.1016/s1570-0232(02)00533-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12450653" target="_blank">12450653</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8295404">Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohba S,
|
||
Kidouchi K,
|
||
Toyama J,
|
||
Oda T,
|
||
Tsuboi T,
|
||
Ichiki T,
|
||
Sobajima H,
|
||
Sugiyama N,
|
||
Morishita H,
|
||
Købayashi M</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1993;16(5):872-5.
|
||
doi: 10.1007/BF00714281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8295404" target="_blank">8295404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5677483">Hereditary orotic aciduria. II. A urinary screening test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers LE,
|
||
Porter FS</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1968 Sep;42(3):423-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5677483" target="_blank">5677483</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20orotic%20aciduria%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32927231">Therapeutic potential of uracil and its derivatives in countering pathogenic and physiological disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramesh D,
|
||
Vijayakumar BG,
|
||
Kannan T</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Chem</span>
|
||
2020 Dec 1;207:112801.
|
||
Epub 2020 Sep 5
|
||
doi: 10.1016/j.ejmech.2020.112801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32927231" target="_blank">32927231</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27027693">In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Med Lett Drugs Ther</span>
|
||
2016 Mar 28;58(1491):e49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27027693" target="_blank">27027693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4753642">Hereditary orotic aciduria: types I and II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fox RM,
|
||
Wood MH,
|
||
Royse-Smith D,
|
||
O'Sullivan WJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
1973 Dec;55(6):791-8.
|
||
doi: 10.1016/0002-9343(73)90260-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4753642" target="_blank">4753642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5520435">Hereditary orotic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soutter GB,
|
||
Yu J,
|
||
Lovric A,
|
||
Stapleton T</span><br />
|
||
<span class="medgenPMjournal">Aust Paediatr J</span>
|
||
1970 Mar;6(1):47-52.
|
||
doi: 10.1111/j.1440-1754.1970.tb02858.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5520435" target="_blank">5520435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5347440">Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becroft DM,
|
||
Phillips LI,
|
||
Simmonds A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1969 Nov;75(5):885-91.
|
||
doi: 10.1016/s0022-3476(69)80318-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5347440" target="_blank">5347440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20orotic%20aciduria%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28205048">Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wortmann SB,
|
||
Chen MA,
|
||
Colombo R,
|
||
Pontoglio A,
|
||
Alhaddad B,
|
||
Botto LD,
|
||
Yuzyuk T,
|
||
Coughlin CR,
|
||
Descartes M,
|
||
Grűnewald S,
|
||
Maranda B,
|
||
Mills PB,
|
||
Pitt J,
|
||
Potente C,
|
||
Rodenburg R,
|
||
Kluijtmans LA,
|
||
Sampath S,
|
||
Pai EF,
|
||
Wevers RA,
|
||
Tiller GE;
|
||
additional individual contributors</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 May;40(3):423-431.
|
||
Epub 2017 Feb 15
|
||
doi: 10.1007/s10545-017-0015-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28205048" target="_blank">28205048</a><a href="/pmc/articles/PMC5393157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9061575">Pyrimidine metabolism in hereditary orotic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sumi S,
|
||
Suchi M,
|
||
Kidouchi K,
|
||
Morishita H,
|
||
Ohba S,
|
||
Wada Y</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1997 Mar;20(1):104-5.
|
||
doi: 10.1023/a:1005330127995.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9061575" target="_blank">9061575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14243056">HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">BECROFT DM,
|
||
PHILLIPS LI</span><br />
|
||
<span class="medgenPMjournal">Br Med J</span>
|
||
1965 Feb 27;1(5434):547-52.
|
||
doi: 10.1136/bmj.1.5434.547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14243056" target="_blank">14243056</a><a href="/pmc/articles/PMC2166778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20orotic%20aciduria%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/28205048">Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wortmann SB,
|
||
Chen MA,
|
||
Colombo R,
|
||
Pontoglio A,
|
||
Alhaddad B,
|
||
Botto LD,
|
||
Yuzyuk T,
|
||
Coughlin CR,
|
||
Descartes M,
|
||
Grűnewald S,
|
||
Maranda B,
|
||
Mills PB,
|
||
Pitt J,
|
||
Potente C,
|
||
Rodenburg R,
|
||
Kluijtmans LA,
|
||
Sampath S,
|
||
Pai EF,
|
||
Wevers RA,
|
||
Tiller GE;
|
||
additional individual contributors</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 May;40(3):423-431.
|
||
Epub 2017 Feb 15
|
||
doi: 10.1007/s10545-017-0015-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28205048" target="_blank">28205048</a><a href="/pmc/articles/PMC5393157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27574833">Hereditary Orotic Aciduria and the Excretion of Orotidine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nyhan WL,
|
||
Gangoiti JA</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2016 Dec;47(6):408-409.
|
||
Epub 2016 Aug 30
|
||
doi: 10.1055/s-0036-1587594.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27574833" target="_blank">27574833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21379380">Enhanced uridine bioavailability following administration of a triacetyluridine-rich nutritional supplement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinberg ME,
|
||
Roman MC,
|
||
Jacob P,
|
||
Wen M,
|
||
Cheung P,
|
||
Walker UA,
|
||
Mulligan K,
|
||
Schambelan M</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2011 Feb 17;6(2):e14709.
|
||
doi: 10.1371/journal.pone.0014709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21379380" target="_blank">21379380</a><a href="/pmc/articles/PMC3040752" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20077096">Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen J,
|
||
Bennett MJ</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2010;603:445-51.
|
||
doi: 10.1007/978-1-60761-459-3_43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20077096" target="_blank">20077096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9042911">Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suchi M,
|
||
Mizuno H,
|
||
Kawai Y,
|
||
Tsuboi T,
|
||
Sumi S,
|
||
Okajima K,
|
||
Hodgson ME,
|
||
Ogawa H,
|
||
Wada Y</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1997 Mar;60(3):525-39.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9042911" target="_blank">9042911</a><a href="/pmc/articles/PMC1712531" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20orotic%20aciduria%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 (5)</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=C0220987%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0220987%5bDISCUI%5d" target="_blank">See all (1)</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=258900" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20orotic%20aciduria" 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=613891" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7372[geneid]" target="_blank">View UMPS variations in ClinVar</a></li><li><a href="/nuccore/294459967" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=258900" 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://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hereditary%20orotic%20aciduria" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5429/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/clinical?term=Hereditary%20orotic%20aciduria" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hereditary%20orotic%20aciduria%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" 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>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=472940" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=472940" ref="log$=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=C0220987[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0220987[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=472940" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=472940" ref="log$=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=472940" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=472940" ref="log$=recordlinks">PubMed</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>
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<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>
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
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<div class="action">
|
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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
|
||
</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
|
||
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|
||
<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$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cdec40b15b832ebc460126">Hereditary orotic aciduria</a>
|
||
<div class="ralinkpop offscreen_noflow">Hereditary orotic aciduria<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cdec3eb15b832ebc45fa82">C0220987[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=67cdec3db15b832ebc45f600">C1704423[trait identifier] AND "Victorian Clinical Genetics Servi... <span class="number">(3)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C1704423[trait identifier] AND "Victorian Clinical Genetics Services, Murdoch Childrens Research Institute"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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