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<meta name="keywords" content="C0023374, choreoathetosis self mutilation hyperuricemia syndrome, choreoathetosis self mutilation syndrome, choreoathetosis self-mutilation hyperuricemia syndrome, choreoathetosis self-mutilation syndrome, choreoathetosis self-mutilation syndromes, complete hgprt deficiency, complete hgprt deficiency disease, complete hprt deficiencies, complete hprt deficiency, complete hypoxanthine guanine phosphoribosyltransferase deficiency, complete hypoxanthine-guanine phosphoribosyltransferase deficiency, deficiencies, complete hprt, deficiencies, hgprt, deficiencies, hypoxanthine phosphoribosyltransferase, deficiencies, total hprt, deficiency disease, complete hgprt, deficiency disease, hypoxanthine phosphoribosyl transferase, deficiency disease, hypoxanthine-phosphoribosyl-transferase, deficiency diseases, hypoxanthine-phosphoribosyl-transferase, deficiency of guanine phosphoribosyltransferase, deficiency of hypoxanthine phosphoribosyltransferase, deficiency of imp pyrophosphorylase, deficiency, complete hprt, deficiency, hgprt, deficiency, hypoxanthine phosphoribosyltransferase, deficiency, total hprt, disease or syndrome, guanine phosphoribosyltransferase deficiencies, guanine phosphoribosyltransferase deficiency, hg-prt deficiency, hgprt deficiencies, hgprt deficiency, hgprt deficiency disease, complete, hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency, hprt complete deficiency, hprt deficiencies, complete, hprt deficiencies, total, hprt deficiency, hprt deficiency grade iv, hprt deficiency, complete, hprt deficiency, neurologic variant, hprt deficiency, total, hprt1, hprt1 deficiency, hyperuricemia syndrome, juvenile, hyperuricemia syndrome, primary, hyperuricemia syndromes, juvenile, hyperuricemia syndromes, primary, hyperuricemia, x-linked, hyperuricemia, x-linked primary, hyperuricemias, x-linked, hyperuricemias, x-linked primary, hypoxanthine guanine phospho-ribosyltransferase 1 deficiency, hypoxanthine guanine phosphoribosyltransferase 1 deficiency, hypoxanthine guanine phosphoribosyltransferase complete deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv, hypoxanthine phosphoribosyl transferase deficiency disease, hypoxanthine phosphoribosyltransferase deficiencies, hypoxanthine phosphoribosyltransferase deficiency, hypoxanthine-guanine phosphoribosyltransferase deficiency, hypoxanthine-guanine-phosphoribosyltransferase deficiency (&amp; [lesch - nyhan syndrome]), hypoxanthine-phosphoribosyl-transferase deficiency disease, hypoxanthine-phosphoribosyl-transferase deficiency diseases, juvenile gout, choreoathetosis, mental retardation syndrome, juvenile hyperuricemia syndrome, juvenile hyperuricemia syndromes, lesch - nyhan syndrome, lesch nyhan disease, lesch nyhan syndrome, lesch-nyhan disease, lesch-nyhan syndrome, lesch-nyhan syndrome, neurologic variant, lesch-nyhan syndrome, x-linked recessive, lns, phosphoribosyltransferase deficiencies, guanine, phosphoribosyltransferase deficiencies, hypoxanthine, phosphoribosyltransferase deficiency, guanine, phosphoribosyltransferase deficiency, hypoxanthine, primary hyperuricemia syndrome, primary hyperuricemia syndromes, primary hyperuricemia, x-linked, primary hyperuricemias, x-linked, self-mutilation syndrome, choreoathetosis, self-mutilation syndromes, choreoathetosis, syndrome, choreoathetosis self-mutilation, syndrome, juvenile hyperuricemia, syndrome, primary hyperuricemia, syndromes, choreoathetosis self-mutilation, syndromes, juvenile hyperuricemia, syndromes, primary hyperuricemia, total hgprt deficiency, total hprt deficiencies, total hprt deficiency, total hypoxanthine guanine phosphoribosyl transferase deficiency, total hypoxanthine-guanine phosphoribosyl transferase deficiency, x linked hyperuricemia, x linked primary hyperuricemia, x-linked hyperuricemia, x-linked hyperuricemia (disorder) [ambiguous], x-linked hyperuricemias, x-linked primary hyperuricemia, x-linked primary hyperuricemias, 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="HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Lesch-Nyhan syndrome (Concept Id: C0023374)
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<!--
UID=9721
ConceptID=C0023374
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lesch-Nyhan syndrome<span class="h1sub">(LNS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9721</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)&#10;Click for more information.">C0023374</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>HPRT DEFICIENCY, COMPLETE; LNS</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Lesch-Nyhan syndrome (10406007); Complete HGPRT deficiency (10406007); Choreoathetosis self-mutilation syndrome (10406007); Total HGPRT deficiency (10406007); HGPRT deficiency (10406007); HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency (10406007); Complete hypoxanthine-guanine phosphoribosyltransferase deficiency (10406007); Lesch-Nyhan disease (10406007); Hypoxanthine-guanine phosphoribosyltransferase deficiency (10406007); X-linked hyperuricemia (10406007)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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)&#10;Click for more information.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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="HPRT1 - ID: 3251 - NCBI Gene" href="/gene/3251" class="medgenPMinfo">HPRT1</a> (Xq26.2-26.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010298" target="_blank">MONDO:0010298</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/300322" target="_blank">300322</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&amp;Expert=510">ORPHA510</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/NBK1149" target="_blank">HPRT1 Disorders</a></div><div>HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild. [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/NBK1149#lns.Summary" target="NBK1149">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.GeneReview_Scope" target="NBK1149">GeneReview Scope</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Diagnosis" target="NBK1149">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Clinical_Characteristics" target="NBK1149">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Genetically_Related_Allelic_Disorder" target="NBK1149">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Differential_Diagnosis" target="NBK1149">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Management" target="NBK1149">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Genetic_Counseling" target="NBK1149">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Resources" target="NBK1149">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Molecular_Genetics" target="NBK1149">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.Chapter_Notes" target="NBK1149">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1149#lns.References" target="NBK1149">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Hyder A Jinnah   <a href="/books/NBK1149" target="NBK1149" title="NCBI Bookshelf: HPRT1 Disorders">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 />Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.<br /><br />The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome">https://medlineplus.gov/genetics/condition/lesch-nyhan-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_10222"><div><strong>Nephrocalcinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10222</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)&#10;Click for more information.">C0027709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10222">Feature record</a> | <a href="/medgen?term=%22Nephrocalcinosis%22%5BClinical%20Features%5D%20OR%2010222%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57626"><div><strong>Testicular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57626</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)&#10;Click for more information.">C0156312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57626">Feature record</a> | <a href="/medgen?term=%22Testicular%20atrophy%22%5BClinical%20Features%5D%20OR%2057626%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98227"><div><strong>Nephrolithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98227</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)&#10;Click for more information.">C0392525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of calculi (stones) in the kidneys.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98227">Feature record</a> | <a href="/medgen?term=%22Nephrolithiasis%22%5BClinical%20Features%5D%20OR%2098227%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_182691"><div><strong>Hyperuricosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182691</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)&#10;Click for more information.">C0948643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally high level of uric acid in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/182691">Feature record</a> | <a href="/medgen?term=%22Hyperuricosuria%22%5BClinical%20Features%5D%20OR%20182691%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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)&#10;Click for more information.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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)&#10;Click for more information.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Difficulty in swallowing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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)&#10;Click for more information.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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)&#10;Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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)&#10;Click for more information.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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)&#10;Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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)&#10;Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_88371"><div><strong>Self-injurious behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88371</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)&#10;Click for more information.">C0085271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
<div class="spaceAbove">Self-aggression.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Self-injurious%20behavior%22%5BClinical%20Features%5D%20OR%2088371%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39313"><div><strong>Choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39313</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)&#10;Click for more information.">C0085583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39313">Feature record</a> | <a href="/medgen?term=%22Choreoathetosis%22%5BClinical%20Features%5D%20OR%2039313%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_56246"><div><strong>Opisthotonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56246</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)&#10;Click for more information.">C0151818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56246">Feature record</a> | <a href="/medgen?term=%22Opisthotonus%22%5BClinical%20Features%5D%20OR%2056246%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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)&#10;Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_115941"><div><strong>Abnormality of extrapyramidal motor function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115941</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)&#10;Click for more information.">C0234133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/115941">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20extrapyramidal%20motor%20function%22%5BClinical%20Features%5D%20OR%20115941%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)&#10;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_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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)&#10;Click for more information.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1527"><div><strong>Megaloblastic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1527</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)&#10;Click for more information.">C0002888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1527">Feature record</a> | <a href="/medgen?term=%22Megaloblastic%20anemia%22%5BClinical%20Features%5D%20OR%201527%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42455"><div><strong>Hip dislocation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42455</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)&#10;Click for more information.">C0019554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Injury or Poisoning</dd></dl></div></div></div>
<div class="spaceAbove">Displacement of the femur from its normal location in the hip joint.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Hip%20dislocation%22%5BClinical%20Features%5D%20OR%2042455%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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)&#10;Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_450998"><div><strong>Podagra</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>450998</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)&#10;Click for more information.">C0221168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Gout affecting the Metatarsophalangeal joint of big toe.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/450998">Feature record</a> | <a href="/medgen?term=%22Podagra%22%5BClinical%20Features%5D%20OR%20450998%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322809"><div><strong>Poor head control</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322809</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)&#10;Click for more information.">C1836038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322809">Feature record</a> | <a href="/medgen?term=%22Poor%20head%20control%22%5BClinical%20Features%5D%20OR%20322809%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_149260"><div><strong>Hyperuricemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>149260</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)&#10;Click for more information.">C0740394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally high level of uric acid in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/149260">Feature record</a> | <a href="/medgen?term=%22Hyperuricemia%22%5BClinical%20Features%5D%20OR%20149260%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_1527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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_149260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperuricemia</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_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</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_182691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperuricosuria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrocalcinosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98227" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrolithiasis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testicular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hip dislocation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_450998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Podagra</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor head control</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_115941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of extrapyramidal motor function</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choreoathetosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opisthotonus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88371" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Self-injurious behavior</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</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_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848153[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=1852368">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1852368" ref="tree=GTR&amp;ncbi_uid=1852368&amp;link_uid=1852368" title="View MedGen record for 'Hypoxanthine-guanine phosphoribosyltransferase deficiency'">Hypoxanthine-guanine phosphoribosyltransferase deficiency</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023374[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=9721">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9721" target="_blank" href="/omim/300322">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1149/" ref="ncbi_uid=9721">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=9721" ref="ncbi_uid=9721">V</a></span></span><span class="TLline">Lesch-Nyhan syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268117[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=82770">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82770" target="_blank" href="/omim/300323">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1149/" ref="ncbi_uid=82770">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=82770" ref="ncbi_uid=82770">V</a></span></span><span class="TLline"><a href="/medgen/82770" ref="tree=GTR&amp;ncbi_uid=82770&amp;link_uid=82770" title="View MedGen record for 'Partial hypoxanthine-guanine phosphoribosyltransferase deficiency'">Partial hypoxanthine-guanine phosphoribosyltransferase deficiency</a></span></li></ul></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="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="matched_ds">Lesch-Nyhan syndrome</span></li></ul></li></ul></li></ul></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&amp;data_id=156&amp;PatId=197&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Lesch-Nyhan syndrome</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/30793794">Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sabus A,
Feinstein J,
Romani P,
Goldson E,
Blackmer A</span><br />
<span class="medgenPMjournal">Pharmacotherapy</span>
2019 Jun;39(6):645-664.
Epub 2019 Mar 27
doi: 10.1002/phar.2238.
<span class="bold">PMID: </span><a href="/pubmed/30793794" target="_blank">30793794</a><a href="/pmc/articles/PMC6555654" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20648055">Clinical utility gene card for: Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
Puig JG,
Ceballos-Picot I</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2011 Jan;19(1):preceeding 118-20.
Epub 2010 Jul 21
doi: 10.1038/ejhg.2010.109.
<span class="bold">PMID: </span><a href="/pubmed/20648055" target="_blank">20648055</a><a href="/pmc/articles/PMC3039492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4558815">Diagnosis and treatment of the Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Crawhall JC,
Henderson JF,
Kelley WN</span><br />
<span class="medgenPMjournal">Pediatr Res</span>
1972 May;6(5):504-13.
doi: 10.1203/00006450-197205000-00004.
<span class="bold">PMID: </span><a href="/pubmed/4558815" target="_blank">4558815</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lesch-nyhan%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (25)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/20648055">Clinical utility gene card for: Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
Puig JG,
Ceballos-Picot I</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2011 Jan;19(1):preceeding 118-20.
Epub 2010 Jul 21
doi: 10.1038/ejhg.2010.109.
<span class="bold">PMID: </span><a href="/pubmed/20648055" target="_blank">20648055</a><a href="/pmc/articles/PMC3039492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/37443362">Discovering functionally important sites in proteins.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cagiada M,
Bottaro S,
Lindemose S,
Schenstrøm SM,
Stein A,
Hartmann-Petersen R,
Lindorff-Larsen K</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2023 Jul 13;14(1):4175.
doi: 10.1038/s41467-023-39909-0.
<span class="bold">PMID: </span><a href="/pubmed/37443362" target="_blank">37443362</a><a href="/pmc/articles/PMC10345196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
Pons R,
Ghaoui R,
Sue CM</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16698380">Xanthine urolithiasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pais VM Jr,
Lowe G,
Lallas CD,
Preminger GM,
Assimos DG</span><br />
<span class="medgenPMjournal">Urology</span>
2006 May;67(5):1084.e9-11.
doi: 10.1016/j.urology.2005.10.057.
<span class="bold">PMID: </span><a href="/pubmed/16698380" target="_blank">16698380</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12010614">Pathogenesis of hyperuricemia: recent advances.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ghei M,
Mihailescu M,
Levinson D</span><br />
<span class="medgenPMjournal">Curr Rheumatol Rep</span>
2002 Jun;4(3):270-4.
doi: 10.1007/s11926-002-0076-z.
<span class="bold">PMID: </span><a href="/pubmed/12010614" target="_blank">12010614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7617568">Preimplantation diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Delhanty JD</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
1994 Dec;14(13):1217-27.
doi: 10.1002/pd.1970141307.
<span class="bold">PMID: </span><a href="/pubmed/7617568" target="_blank">7617568</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lesch-Nyhan%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 (126)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
Pons R,
Ghaoui R,
Sue CM</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18067674">Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
Puig JG</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 Dec 8;2:48.
doi: 10.1186/1750-1172-2-48.
<span class="bold">PMID: </span><a href="/pubmed/18067674" target="_blank">18067674</a><a href="/pmc/articles/PMC2234399" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14558024">Prenatal diagnosis of Lesch-Nyhan disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nyhan WL,
Vuong LU,
Broock R</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
2003 Oct;23(10):807-9.
doi: 10.1002/pd.691.
<span class="bold">PMID: </span><a href="/pubmed/14558024" target="_blank">14558024</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6957565">Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Steadman RH,
McIntosh G,
Gross BD</span><br />
<span class="medgenPMjournal">J Oral Maxillofac Surg</span>
1982 Nov;40(11):750-2.
doi: 10.1016/0278-2391(82)90153-7.
<span class="bold">PMID: </span><a href="/pubmed/6957565" target="_blank">6957565</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4575865">The Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nyhan WL</span><br />
<span class="medgenPMjournal">Annu Rev Med</span>
1973;24:41-60.
doi: 10.1146/annurev.me.24.020173.000353.
<span class="bold">PMID: </span><a href="/pubmed/4575865" target="_blank">4575865</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lesch-Nyhan%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 (315)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/16698380">Xanthine urolithiasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pais VM Jr,
Lowe G,
Lallas CD,
Preminger GM,
Assimos DG</span><br />
<span class="medgenPMjournal">Urology</span>
2006 May;67(5):1084.e9-11.
doi: 10.1016/j.urology.2005.10.057.
<span class="bold">PMID: </span><a href="/pubmed/16698380" target="_blank">16698380</a></div>
<div class="nl"><a target="_blank" href="/pubmed/307504">The Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nyhan WL</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
1978 Jun;20(3):376-80.
doi: 10.1111/j.1469-8749.1978.tb15228.x.
<span class="bold">PMID: </span><a href="/pubmed/307504" target="_blank">307504</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4575865">The Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nyhan WL</span><br />
<span class="medgenPMjournal">Annu Rev Med</span>
1973;24:41-60.
doi: 10.1146/annurev.me.24.020173.000353.
<span class="bold">PMID: </span><a href="/pubmed/4575865" target="_blank">4575865</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4558815">Diagnosis and treatment of the Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Crawhall JC,
Henderson JF,
Kelley WN</span><br />
<span class="medgenPMjournal">Pediatr Res</span>
1972 May;6(5):504-13.
doi: 10.1203/00006450-197205000-00004.
<span class="bold">PMID: </span><a href="/pubmed/4558815" target="_blank">4558815</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5514644">Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arima M,
Aoki N,
Ono K</span><br />
<span class="medgenPMjournal">Paediatr Univ Tokyo</span>
1970 Dec;18:25-31.
<span class="bold">PMID: </span><a href="/pubmed/5514644" target="_blank">5514644</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lesch-Nyhan%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 (152)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37443362">Discovering functionally important sites in proteins.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cagiada M,
Bottaro S,
Lindemose S,
Schenstrøm SM,
Stein A,
Hartmann-Petersen R,
Lindorff-Larsen K</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2023 Jul 13;14(1):4175.
doi: 10.1038/s41467-023-39909-0.
<span class="bold">PMID: </span><a href="/pubmed/37443362" target="_blank">37443362</a><a href="/pmc/articles/PMC10345196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
Pons R,
Ghaoui R,
Sue CM</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20648055">Clinical utility gene card for: Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
Puig JG,
Ceballos-Picot I</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2011 Jan;19(1):preceeding 118-20.
Epub 2010 Jul 21
doi: 10.1038/ejhg.2010.109.
<span class="bold">PMID: </span><a href="/pubmed/20648055" target="_blank">20648055</a><a href="/pmc/articles/PMC3039492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8288343">Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kulkarni ML,
Sureshkumar C,
George VG</span><br />
<span class="medgenPMjournal">Indian Pediatr</span>
1993 Apr;30(4):537-40.
<span class="bold">PMID: </span><a href="/pubmed/8288343" target="_blank">8288343</a></div>
<div class="nl"><a target="_blank" href="/pubmed/765953">Inherited biochemical defects affecting the kidney.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Caskey CT</span><br />
<span class="medgenPMjournal">Perspect Nephrol Hypertens</span>
1976;3:255-74.
<span class="bold">PMID: </span><a href="/pubmed/765953" target="_blank">765953</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lesch-Nyhan%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 (66)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/20648055">Clinical utility gene card for: Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Torres RJ,
Puig JG,
Ceballos-Picot I</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2011 Jan;19(1):preceeding 118-20.
Epub 2010 Jul 21
doi: 10.1038/ejhg.2010.109.
<span class="bold">PMID: </span><a href="/pubmed/20648055" target="_blank">20648055</a><a href="/pmc/articles/PMC3039492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16549399">Delineation of the motor disorder of Lesch-Nyhan disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
Visser JE,
Harris JC,
Verdu A,
Larovere L,
Ceballos-Picot I,
Gonzalez-Alegre P,
Neychev V,
Torres RJ,
Dulac O,
Desguerre I,
Schretlen DJ,
Robey KL,
Barabas G,
Bloem BR,
Nyhan W,
De Kremer R,
Eddey GE,
Puig JG,
Reich SG;
Lesch-Nyhan Disease International Study Group</span><br />
<span class="medgenPMjournal">Brain</span>
2006 May;129(Pt 5):1201-17.
Epub 2006 Mar 20
doi: 10.1093/brain/awl056.
<span class="bold">PMID: </span><a href="/pubmed/16549399" target="_blank">16549399</a><a href="/pmc/articles/PMC3508431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2292045">Animal models of Lesch-Nyhan syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
Gage FH,
Friedmann T</span><br />
<span class="medgenPMjournal">Brain Res Bull</span>
1990 Sep;25(3):467-75.
doi: 10.1016/0361-9230(90)90239-v.
<span class="bold">PMID: </span><a href="/pubmed/2292045" target="_blank">2292045</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6299409">Naloxone and self-mutilation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson JS,
Zaleski WA</span><br />
<span class="medgenPMjournal">Biol Psychiatry</span>
1983 Jan;18(1):99-101.
doi: 10.1016/0378-1097(83)90142-8.
<span class="bold">PMID: </span><a href="/pubmed/6299409" target="_blank">6299409</a></div>
<div class="nl"><a target="_blank" href="/pubmed/765953">Inherited biochemical defects affecting the kidney.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Caskey CT</span><br />
<span class="medgenPMjournal">Perspect Nephrol Hypertens</span>
1976;3:255-74.
<span class="bold">PMID: </span><a href="/pubmed/765953" target="_blank">765953</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lesch-Nyhan%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 (149)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/39117131">Management of neurological symptoms in Lesch-Nyhan disease: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krajewski O,
Opiełka M,
Urbanowicz K,
Chojnowski K,
Kochany P,
Pawłowski K,
Tomaszewska J,
Peters GJ,
Smoleński RT,
Bełdzińska MM</span><br />
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
2024 Oct;165:105847.
Epub 2024 Aug 6
doi: 10.1016/j.neubiorev.2024.105847.
<span class="bold">PMID: </span><a href="/pubmed/39117131" target="_blank">39117131</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36694014">Deep brain stimulation in Lesch-Nyhan syndrome: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deng H,
Xiong BT,
Wu Y,
Wang W</span><br />
<span class="medgenPMjournal">Neurosurg Rev</span>
2023 Jan 25;46(1):40.
doi: 10.1007/s10143-023-01950-4.
<span class="bold">PMID: </span><a href="/pubmed/36694014" target="_blank">36694014</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32430438">Self-injurious behaviour in movement disorders: systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer JF,
Mainka T,
Worbe Y,
Pringsheim T,
Bhatia K,
Ganos C</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2020 Jul;91(7):712-719.
Epub 2020 May 19
doi: 10.1136/jnnp-2019-322569.
<span class="bold">PMID: </span><a href="/pubmed/32430438" target="_blank">32430438</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lesch-Nyhan%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<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=C0023374%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (4)</a></li>
<li><a href="/gtr/tests?term=C0023374%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
<li><a href="/gtr/tests?term=C0023374%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
<li><a href="/gtr/tests?term=C0023374%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (3)</a></li>
<li><a href="/gtr/tests?term=C0023374%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
<li><a href="/gtr/tests?term=C0023374%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0023374%5bDISCUI%5d" target="_blank">See all (54)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=300322" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=510" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lesch-Nyhan%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lesch-nyhan%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Lesch-Nyhan%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC3039492/">EuroGenetest, 2011</a><div>Clinical utility gene card for: Lesch-Nyhan syndrome</div></li></ul></div>
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<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&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=308000" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3251[geneid]" target="_blank">View HPRT1 variations in ClinVar</a></li><li><a href="/nuccore/240255446" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=300322" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Lesch+Nyhan+syndrome/4181" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/lesch_nyhan_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Lesch-Nyhan%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7226/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Lesch-Nyhan%20syndrome" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Lesch-Nyhan%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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