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<meta name="keywords" content="C4225308, cip-hypohidrosis syndrome, congenital insensitivity to pain-hypohidrosis syndrome, disease or syndrome, hereditary sensory and autonomic neuropathy type 8, hereditary sensory and autonomic neuropathy type viii, hsan 8, hsan viii, hsan8, hsan8 - hereditary sensory and autonomic neuropathy type 8, neuropathy, hereditary sensory and autonomic, type 8, neuropathy, hereditary sensory and autonomic, type viii, prdm12, 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="Hereditary sensory and autonomic neuropathy type VIII (HSAN8) is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400)." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=894363
|
||
ConceptID=C4225308
|
||
-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK481553/bin/cip-overview-Image001.gif" src-large="/books/NBK481553/bin/cip-overview-Image001.jpg" /></a><br /><a href="/books/NBK481553/figure/cip-overview.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital insensitivity to pain-hypohidrosis syndrome<span class="h1sub">(HSAN8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894363</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:">C4225308</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>HSAN VIII; Neuropathy, hereditary sensory and autonomic, type VIII</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>HSAN8 - hereditary sensory and autonomic neuropathy type 8 (1172838005); Hereditary sensory and autonomic neuropathy type 8 (1172838005); Hereditary sensory and autonomic neuropathy type VIII (1172838005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><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="PRDM12 - ID: 59335 - NCBI Gene" href="/gene/59335" class="medgenPMinfo">PRDM12</a> (9q34.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014662" target="_blank">MONDO:0014662</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616488" target="_blank">616488</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=478664">ORPHA478664</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">
|
||
<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">Hereditary sensory and autonomic neuropathy type VIII (HSAN8) is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400). [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_324638"><div><strong>Gastrointestinal dysmotility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324638</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.">C1836923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324638">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20dysmotility%22%5BClinical%20Features%5D%20OR%20324638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9164"><div><strong>Sensorineural hearing loss disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9164</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.">C0018784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9164">Feature record</a> | <a href="/medgen?term=%22Sensorineural%20hearing%20loss%20disorder%22%5BClinical%20Features%5D%20OR%209164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6974"><div><strong>Hypoesthesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6974</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.">C0020580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased ability to perceive touch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6974">Feature record</a> | <a href="/medgen?term=%22Hypoesthesia%22%5BClinical%20Features%5D%20OR%206974%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488855"><div><strong>Pain insensitivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488855</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.">C0344307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to perceive painful stimuli.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488855">Feature record</a> | <a href="/medgen?term=%22Pain%20insensitivity%22%5BClinical%20Features%5D%20OR%20488855%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220959"><div><strong>Impaired vibratory sensation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220959</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.">C1295585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220959">Feature record</a> | <a href="/medgen?term=%22Impaired%20vibratory%20sensation%22%5BClinical%20Features%5D%20OR%20220959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346424"><div><strong>Impaired proprioception</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346424</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.">C1856691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss or impairment of the sensation of the relative position of parts of the body and joint position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346424">Feature record</a> | <a href="/medgen?term=%22Impaired%20proprioception%22%5BClinical%20Features%5D%20OR%20346424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473584"><div><strong>Hyposmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473584</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.">C2364082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473584">Feature record</a> | <a href="/medgen?term=%22Hyposmia%22%5BClinical%20Features%5D%20OR%20473584%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) 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_866867"><div><strong>Impaired temperature sensation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866867</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.">C4021222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced ability to discriminate between different temperatures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866867">Feature record</a> | <a href="/medgen?term=%22Impaired%20temperature%20sensation%22%5BClinical%20Features%5D%20OR%20866867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83899"><div><strong>Corneal scarring</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83899</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.">C0349702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83899">Feature record</a> | <a href="/medgen?term=%22Corneal%20scarring%22%5BClinical%20Features%5D%20OR%2083899%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377848"><div><strong>Recurrent skin infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377848</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.">C1853193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infections of the skin that happen multiple times.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377848">Feature record</a> | <a href="/medgen?term=%22Recurrent%20skin%20infections%22%5BClinical%20Features%5D%20OR%20377848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43796"><div><strong>Hypohidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43796</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.">C0020620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally diminished capacity to sweat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43796">Feature record</a> | <a href="/medgen?term=%22Hypohidrosis%22%5BClinical%20Features%5D%20OR%2043796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40486"><div><strong>Corneal ulceration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40486</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.">C0010043</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40486">Feature record</a> | <a href="/medgen?term=%22Corneal%20ulceration%22%5BClinical%20Features%5D%20OR%2040486%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116004"><div><strong>Decreased lacrimation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116004</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.">C0235857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally decreased lacrimation, that is, reduced tear production.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116004">Feature record</a> | <a href="/medgen?term=%22Decreased%20lacrimation%22%5BClinical%20Features%5D%20OR%20116004%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 the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal dysmotility</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal ulceration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased lacrimation</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_377848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent skin infections</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrosis</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_83899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal scarring</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_6974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoesthesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473584" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyposmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired proprioception</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired temperature sensation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired vibratory sensation</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_488855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pain insensitivity</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensorineural hearing loss disorder</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225308[DISCUI]&test_type=Clinical" ref="ncbi_uid=894363">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=894363" target="_blank" href="/omim/616458">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK481553/" ref="ncbi_uid=894363">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=894363" ref="ncbi_uid=894363">V</a></span></span><span class="TLline">Congenital insensitivity to pain-hypohidrosis syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842234" ref="tree=MeSH" title="MedGen record for Autosomal recessive hereditary sensory and autonomic neuropathy">Autosomal recessive hereditary sensory and autonomic neuropathy</a></span><ul><li><span class="matched_ds">Congenital insensitivity to pain-hypohidrosis syndrome</span></li></ul></li></ul></div></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/35353710">Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nordenström A,
|
||
Ahmed SF,
|
||
van den Akker E,
|
||
Blair J,
|
||
Bonomi M,
|
||
Brachet C,
|
||
Broersen LHA,
|
||
Claahsen-van der Grinten HL,
|
||
Dessens AB,
|
||
Gawlik A,
|
||
Gravholt CH,
|
||
Juul A,
|
||
Krausz C,
|
||
Raivio T,
|
||
Smyth A,
|
||
Touraine P,
|
||
Vitali D,
|
||
Dekkers OM</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2022 Apr 21;186(6):G9-G49.
|
||
doi: 10.1530/EJE-22-0073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35353710" target="_blank">35353710</a><a href="/pmc/articles/PMC9066594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23947083">Diagnostic pitfalls in the evaluation and management of amenorrhea in adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azurah AG,
|
||
Zainuddin AA,
|
||
Jayasinghe Y</span><br />
|
||
<span class="medgenPMjournal">J Reprod Med</span>
|
||
2013 Jul-Aug;58(7-8):324-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23947083" target="_blank">23947083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4556547">Differential diagnosis of genital ambiguity in the newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Summitt RL</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1972 Mar;15(1):112-40.
|
||
doi: 10.1097/00003081-197203000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4556547" target="_blank">4556547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20insensitivity%20to%20pain-hypohidrosis%20syndrome)%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 (26)</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/36473446">Challenges Waiting for an Adult with DSD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nowotny HF,
|
||
Reisch N</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2023;96(2):207-221.
|
||
Epub 2022 Dec 6
|
||
doi: 10.1159/000527433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36473446" target="_blank">36473446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24813307">Painful and painless channelopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bennett DL,
|
||
Woods CG</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2014 Jun;13(6):587-99.
|
||
Epub 2014 May 6
|
||
doi: 10.1016/S1474-4422(14)70024-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24813307" target="_blank">24813307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17212990">Congenital corneal anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaesh K,
|
||
Stokes J,
|
||
Henry E,
|
||
Dutton GN,
|
||
Dhillon B</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2007 Jan-Feb;52(1):50-60.
|
||
doi: 10.1016/j.survophthal.2006.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17212990" target="_blank">17212990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15088259">Inherited autonomic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Axelrod FB,
|
||
Hilz MJ</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2003 Dec;23(4):381-90.
|
||
doi: 10.1055/s-2004-817722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15088259" target="_blank">15088259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10985153">Tumors of the testis in intersex syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Levin HS</span><br />
|
||
<span class="medgenPMjournal">Urol Clin North Am</span>
|
||
2000 Aug;27(3):543-51, x.
|
||
doi: 10.1016/s0094-0143(05)70101-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10985153" target="_blank">10985153</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20insensitivity%20to%20pain-hypohidrosis%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 (133)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34708466">The role of steroid hormones in the sexual differentiation of the human brain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker J</span><br />
|
||
<span class="medgenPMjournal">J Neuroendocrinol</span>
|
||
2022 Feb;34(2):e13050.
|
||
Epub 2021 Oct 27
|
||
doi: 10.1111/jne.13050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34708466" target="_blank">34708466</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27292256">Hormone-Based Treatments in Subfertile Males.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel DP,
|
||
Chandrapal JC,
|
||
Hotaling JM</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
|
||
2016 Aug;17(8):56.
|
||
doi: 10.1007/s11934-016-0612-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27292256" target="_blank">27292256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25421205">Congenital insensitivity to pain and anhidrosis syndrome: two cases involving a brother and sister.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Jiang X,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2014;127(22):3999-4000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25421205" target="_blank">25421205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6182578">Child abuse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorst JP</span><br />
|
||
<span class="medgenPMjournal">Radiologe</span>
|
||
1982 Aug;22(8):335-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6182578" target="_blank">6182578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5388335">Amenorrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchant DJ</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1969 Sep;12(3):693-707.
|
||
doi: 10.1097/00003081-196909000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5388335" target="_blank">5388335</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20insensitivity%20to%20pain-hypohidrosis%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 (200)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35353710">Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nordenström A,
|
||
Ahmed SF,
|
||
van den Akker E,
|
||
Blair J,
|
||
Bonomi M,
|
||
Brachet C,
|
||
Broersen LHA,
|
||
Claahsen-van der Grinten HL,
|
||
Dessens AB,
|
||
Gawlik A,
|
||
Gravholt CH,
|
||
Juul A,
|
||
Krausz C,
|
||
Raivio T,
|
||
Smyth A,
|
||
Touraine P,
|
||
Vitali D,
|
||
Dekkers OM</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2022 Apr 21;186(6):G9-G49.
|
||
doi: 10.1530/EJE-22-0073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35353710" target="_blank">35353710</a><a href="/pmc/articles/PMC9066594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27292256">Hormone-Based Treatments in Subfertile Males.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel DP,
|
||
Chandrapal JC,
|
||
Hotaling JM</span><br />
|
||
<span class="medgenPMjournal">Curr Urol Rep</span>
|
||
2016 Aug;17(8):56.
|
||
doi: 10.1007/s11934-016-0612-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27292256" target="_blank">27292256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4147919">Intersexual problems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Money J</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1973 Sep;16(3):169-91.
|
||
doi: 10.1097/00003081-197309000-00012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4147919" target="_blank">4147919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4565144">The child with ambiguous genitalia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hendren WH,
|
||
Crawford JD</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Surg</span>
|
||
1972 Nov:1-64.
|
||
doi: 10.1016/s0011-3840(72)80014-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4565144" target="_blank">4565144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5388335">Amenorrhea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchant DJ</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1969 Sep;12(3):693-707.
|
||
doi: 10.1097/00003081-196909000-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5388335" target="_blank">5388335</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20insensitivity%20to%20pain-hypohidrosis%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 (52)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26451378">Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdolrahimzadeh S,
|
||
Fameli V,
|
||
Mollo R,
|
||
Contestabile MT,
|
||
Perdicchi A,
|
||
Recupero SM</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2015;2015:781294.
|
||
Epub 2015 Sep 16
|
||
doi: 10.1155/2015/781294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26451378" target="_blank">26451378</a><a href="/pmc/articles/PMC4588342" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26235940">Consequences of chromsome18q deletions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cody JD,
|
||
Sebold C,
|
||
Heard P,
|
||
Carter E,
|
||
Soileau B,
|
||
Hasi-Zogaj M,
|
||
Hill A,
|
||
Rupert D,
|
||
Perry B,
|
||
O'Donnell L,
|
||
Gelfond J,
|
||
Lancaster J,
|
||
Fox PT,
|
||
Hale DE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2015 Sep;169(3):265-80.
|
||
Epub 2015 Aug 3
|
||
doi: 10.1002/ajmg.c.31446.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26235940" target="_blank">26235940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24630858">Vaginal agenesis treated by coital dilatation in 20 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moen MH</span><br />
|
||
<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
2014 Jun;125(3):282-3.
|
||
Epub 2014 Feb 26
|
||
doi: 10.1016/j.ijgo.2014.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24630858" target="_blank">24630858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17212990">Congenital corneal anesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaesh K,
|
||
Stokes J,
|
||
Henry E,
|
||
Dutton GN,
|
||
Dhillon B</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2007 Jan-Feb;52(1):50-60.
|
||
doi: 10.1016/j.survophthal.2006.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17212990" target="_blank">17212990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12943736">Tissue glucocorticoid resistance/hypersensitivity syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kino T,
|
||
De Martino MU,
|
||
Charmandari E,
|
||
Mirani M,
|
||
Chrousos GP</span><br />
|
||
<span class="medgenPMjournal">J Steroid Biochem Mol Biol</span>
|
||
2003 Jun;85(2-5):457-67.
|
||
doi: 10.1016/s0960-0760(03)00218-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12943736" target="_blank">12943736</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20insensitivity%20to%20pain-hypohidrosis%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 (58)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38659257">A rare case of congenital insensitivity to pain with anhidrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sreenivasan V,
|
||
Karunakar P,
|
||
Madhileti S,
|
||
Govindaswamy Ramamoorthy J,
|
||
Gulati R</span><br />
|
||
<span class="medgenPMjournal">Paediatr Int Child Health</span>
|
||
2024 Aug;44(2):59-62.
|
||
Epub 2024 Apr 24
|
||
doi: 10.1080/20469047.2024.2344879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38659257" target="_blank">38659257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34799533">Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marchi M,
|
||
D'Amato I,
|
||
Andelic M,
|
||
Cartelli D,
|
||
Salvi E,
|
||
Lombardi R,
|
||
Gumus E,
|
||
Lauria G</span><br />
|
||
<span class="medgenPMjournal">Pain</span>
|
||
2022 Jul 1;163(7):e882-e887.
|
||
Epub 2021 Nov 15
|
||
doi: 10.1097/j.pain.0000000000002535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34799533" target="_blank">34799533</a><a href="/pmc/articles/PMC9199108" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31841741">Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masri A,
|
||
Shboul M,
|
||
Khasawneh A,
|
||
Jadallah R,
|
||
ALmustafa A,
|
||
Escande-Beillard N,
|
||
Hamamy H,
|
||
Bakri F,
|
||
Reversade B</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2020 Feb;189:105636.
|
||
Epub 2019 Dec 9
|
||
doi: 10.1016/j.clineuro.2019.105636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31841741" target="_blank">31841741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26670721">Atypical defects resulting in growth hormone insensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wit JM,
|
||
de Luca F</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2016 Jun;28:57-61.
|
||
Epub 2015 Nov 30
|
||
doi: 10.1016/j.ghir.2015.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26670721" target="_blank">26670721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16286767">Psychological long-term outcome in intersex conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen-Kettenis P</span><br />
|
||
<span class="medgenPMjournal">Horm Res</span>
|
||
2005;64 Suppl 2:27-30.
|
||
doi: 10.1159/000087750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16286767" target="_blank">16286767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20insensitivity%20to%20pain-hypohidrosis%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 (78)</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/33246831">Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Babu R,
|
||
Shah U</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2021 Feb;17(1):39-47.
|
||
Epub 2020 Nov 12
|
||
doi: 10.1016/j.jpurol.2020.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33246831" target="_blank">33246831</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27856173">Fertility in disorders of sex development: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Batavia JP,
|
||
Kolon TF</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Urol</span>
|
||
2016 Dec;12(6):418-425.
|
||
Epub 2016 Nov 3
|
||
doi: 10.1016/j.jpurol.2016.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27856173" target="_blank">27856173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24531406">Systematic review of sexual function and satisfaction following the management of vaginal agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McQuillan SK,
|
||
Grover SR</span><br />
|
||
<span class="medgenPMjournal">Int Urogynecol J</span>
|
||
2014 Oct;25(10):1313-20.
|
||
Epub 2014 Feb 15
|
||
doi: 10.1007/s00192-013-2316-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24531406" target="_blank">24531406</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20insensitivity%20to%20pain-hypohidrosis%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>
|
||
</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=C4225308%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225308%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225308%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225308%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616488" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=478664" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20insensitivity%20to%20pain-hypohidrosis%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(congenital%20insensitivity%20to%20pain-hypohidrosis%20syndrome)%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(%22Congenital%20insensitivity%20to%20pain-hypohidrosis%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></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=616458" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=59335[geneid]" target="_blank">View PRDM12 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=616488" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/neuropathy_hereditary_sensory_and_autonomic_type_viii" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20insensitivity%20to%20pain-hypohidrosis%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17866/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/29419974" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Congenital%20insensitivity%20to%20pain-hypohidrosis%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Congenital%20insensitivity%20to%20pain-hypohidrosis%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=894363" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=894363" ref="log$=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=C4225308[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225308[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=894363" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=894363" ref="log$=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=894363" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=894363" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=894363" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=894363" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca6ee9f4a390645e4a0615">Congenital insensitivity to pain-hypohidrosis syndrome</a>
|
||
<div class="ralinkpop offscreen_noflow">Congenital insensitivity to pain-hypohidrosis syndrome<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca6ee7f4a390645e49fa18">C4225308[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=67ca6ee6f4a390645e49f43a">C4082171[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(1547)</span></a>
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