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<meta name="keywords" content="C0271829, autosomal recessive sensorineural hearing impairment and goiter, autosomal recessive sensorineural hearing impairment and goitre, congenital hypothyroidism due to dyshormonogenesis 2b, deafness with goiter, deafness with goitre, disease or syndrome, foxi1, gdth iib, genetic defect in thyroid hormonogenesis 2b, genetic defect in thyroid hormonogenesis ii b, goiter-deafness syndrome, goiter-hearing loss syndrome, hypothyroidism with sensorineural deafness, hypothyroidism, congenital, due to dyshormonogenesis, 2b, kcnj10, pds, pendred syndrome, pendred's syndrome, slc26a4, tdh2b, thyroid dyshormonogenesis 2b, thyroid hormone organification defect ii b, thyroid hormonogenesis, genetic defect in, 2b, 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="SLC26A4-related sensorineural hearing loss (SLC26A4-SNHL), characterized by inner ear malformations also associated with vestibular dysfunction, comprises two phenotypes: (1) nonsyndromic SLC26A4-SNHL (also referred to as DFNB4 or nonsyndromic enlargement of the vestibular aqueduct [NSEVA]) and (2) Pendred syndrome (PDS) that includes thyroid involvement (typically identified more frequently in countries without universal salt iodization programs). The time of onset and type of presentation of the SNHL vary (such that some newborns pass their newborn hearing screening); however, by age three years most children have bilateral and severe-to-profound hearing loss. Manifestations of vestibular dysfunction (such as head-tilting, vomiting, and/or delayed ambulation or clumsiness in a child who previously walked well) can precede or accompany the fluctuations in hearing typical of this disorder. Thyroid enlargement (goiter) occurs gradually and is typically evident in the second decade, especially if iodine is not routinely included in the diet." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=82890
|
||
ConceptID=C0271829
|
||
-->
|
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1467/bin/pendred-Image001.gif" src-large="/books/NBK1467/bin/pendred-Image001.jpg" /></a><br /><a href="/books/NBK1467/figure/pendred.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1467/bin/pendred-Image002.gif" src-large="/books/NBK1467/bin/pendred-Image002.jpg" /></a><br /><a href="/books/NBK1467/figure/pendred.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Pendred syndrome<span class="h1sub">(PDS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82890</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:">C0271829</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>DEAFNESS WITH GOITER; GOITER-DEAFNESS SYNDROME; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; PDS; Pendred's syndrome; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pendred's syndrome (70348004); Hypothyroidism with sensorineural deafness (70348004); Thyroid hormone organification defect II B (70348004); Goiter-deafness syndrome (70348004); Genetic defect in thyroid hormonogenesis II B (70348004); GDTH IIB (70348004); Pendred syndrome (70348004)</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">Genes (locations):<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="FOXI1 - ID: 2299 - NCBI Gene" href="/gene/2299" class="medgenPMinfo">FOXI1</a> (5q35.1); <a target="_blank" title="KCNJ10 - ID: 3766 - NCBI Gene" href="/gene/3766" class="medgenPMinfo">KCNJ10</a> (1q23.2); <a target="_blank" title="SLC26A4 - ID: 5172 - NCBI Gene" href="/gene/5172" class="medgenPMinfo">SLC26A4</a> (7q22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010134" target="_blank">MONDO:0010134</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/274600" target="_blank">274600</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=705">ORPHA705</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_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">SLC26A4-related sensorineural hearing loss (SLC26A4-SNHL), characterized by inner ear malformations also associated with vestibular dysfunction, comprises two phenotypes: (1) nonsyndromic SLC26A4-SNHL (also referred to as DFNB4 or nonsyndromic enlargement of the vestibular aqueduct [NSEVA]) and (2) Pendred syndrome (PDS) that includes thyroid involvement (typically identified more frequently in countries without universal salt iodization programs). The time of onset and type of presentation of the SNHL vary (such that some newborns pass their newborn hearing screening); however, by age three years most children have bilateral and severe-to-profound hearing loss. Manifestations of vestibular dysfunction (such as head-tilting, vomiting, and/or delayed ambulation or clumsiness in a child who previously walked well) can precede or accompany the fluctuations in hearing typical of this disorder. Thyroid enlargement (goiter) occurs gradually and is typically evident in the second decade, especially if iodine is not routinely included in the diet. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) (Everett et al., 1997).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (274400). <a target="_blank" href="http://www.omim.org/entry/274600">http://www.omim.org/entry/274600</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction.<br /><br />In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation.<br /><br />An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation.<br /><br />Pendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pendred-syndrome">https://medlineplus.gov/genetics/condition/pendred-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_107811"><div><strong>Thyroid gland carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107811</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.">C0549473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a carcinoma of the thyroid gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107811">Feature record</a> | <a href="/medgen?term=%22Thyroid%20gland%20carcinoma%22%5BClinical%20Features%5D%20OR%20107811%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334848"><div><strong>Abnormal vestibular function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334848</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.">C1843865</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the functioning of the vestibular apparatus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334848">Feature record</a> | <a href="/medgen?term=%22Abnormal%20vestibular%20function%22%5BClinical%20Features%5D%20OR%20334848%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_396278"><div><strong>Cochlear malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396278</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.">C1862050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a malformed cochlea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396278">Feature record</a> | <a href="/medgen?term=%22Cochlear%20malformation%22%5BClinical%20Features%5D%20OR%20396278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356101"><div><strong>Congenital sensorineural hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356101</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.">C1865866</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 caused by an abnormal functionality of the cochlear nerve with congenital onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356101">Feature record</a> | <a href="/medgen?term=%22Congenital%20sensorineural%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%20356101%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_1375023"><div><strong>Increased circulating thyroglobulin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375023</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.">C4476805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375023">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20thyroglobulin%20concentration%22%5BClinical%20Features%5D%20OR%201375023%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42270"><div><strong>Goiter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42270</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.">C0018021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An enlargement of the thyroid gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42270">Feature record</a> | <a href="/medgen?term=%22Goiter%22%5BClinical%20Features%5D%20OR%2042270%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473011"><div><strong>Compensated hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473011</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.">C0271790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473011">Feature record</a> | <a href="/medgen?term=%22Compensated%20hypothyroidism%22%5BClinical%20Features%5D%20OR%20473011%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating thyroglobulin concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Compensated hypothyroidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Goiter</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_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></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_334848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal vestibular function</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_396278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cochlear malformation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyroid gland carcinoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271829[DISCUI]&test_type=Clinical" ref="ncbi_uid=82890">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82890" target="_blank" href="/omim/274600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1434%20OR%20NBK1467)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=82890">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82890" ref="ncbi_uid=82890">V</a></span></span><span class="TLline">Pendred syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/14183" ref="tree=MeSH" title="MedGen record for Bone Diseases, Endocrine">Bone Diseases, Endocrine</a></span><ul><li><span class="TLline"><a href="/medgen/41344" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism">Congenital hypothyroidism</a></span><ul><li><span class="matched_ds">Pendred syndrome</span></li></ul></li></ul></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&data_id=156&PatId=558&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Pendred 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/36553459">SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tawalbeh M,
|
||
Aburizeg D,
|
||
Abu Alragheb BO,
|
||
Alaqrabawi WS,
|
||
Dardas Z,
|
||
Srour L,
|
||
Altarayra BH,
|
||
Zayed AA,
|
||
El Omari Z,
|
||
Azab B</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Nov 23;13(12)
|
||
doi: 10.3390/genes13122192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36553459" target="_blank">36553459</a><a href="/pmc/articles/PMC9778369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22116369">SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito T,
|
||
Choi BY,
|
||
King KA,
|
||
Zalewski CK,
|
||
Muskett J,
|
||
Chattaraj P,
|
||
Shawker T,
|
||
Reynolds JC,
|
||
Butman JA,
|
||
Brewer CC,
|
||
Wangemann P,
|
||
Alper SL,
|
||
Griffith AJ</span><br />
|
||
<span class="medgenPMjournal">Cell Physiol Biochem</span>
|
||
2011;28(3):545-52.
|
||
Epub 2011 Nov 18
|
||
doi: 10.1159/000335119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22116369" target="_blank">22116369</a><a href="/pmc/articles/PMC3709178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15689455">SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pryor SP,
|
||
Madeo AC,
|
||
Reynolds JC,
|
||
Sarlis NJ,
|
||
Arnos KS,
|
||
Nance WE,
|
||
Yang Y,
|
||
Zalewski CK,
|
||
Brewer CC,
|
||
Butman JA,
|
||
Griffith AJ</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2005 Feb;42(2):159-65.
|
||
doi: 10.1136/jmg.2004.024208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15689455" target="_blank">15689455</a><a href="/pmc/articles/PMC1735974" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pendred%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 (17)</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/33136026">Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biggs K,
|
||
Lovett A,
|
||
Metcalfe C,
|
||
Muzaffar J,
|
||
Monksfield P,
|
||
Bance M</span><br />
|
||
<span class="medgenPMjournal">J Int Adv Otol</span>
|
||
2020 Dec;16(3):432-442.
|
||
doi: 10.5152/iao.2020.9039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33136026" target="_blank">33136026</a><a href="/pmc/articles/PMC7901456" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196352">Hearing-impaired young people - a physician's guide .</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Easson A,
|
||
Walter S</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2017 Dec;17(6):521-524.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/27861301">A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pendred%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 (85)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38474007">Functional Studies of Deafness-Associated Pendrin and Prestin Variants.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38415346">Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.</a></div>
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Bai X,
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Reithmeier RAF</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/27861301">A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wolf A,
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Frohne A,
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Allen M,
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Parzefall T,
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Koenighofer M,
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Schreiner MM,
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Schoefer C,
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Frei K,
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Lucas T</span><br />
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<span class="medgenPMjournal">Otol Neurotol</span>
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<span class="bold">PMID: </span><a href="/pubmed/27861301" target="_blank">27861301</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9729124">Genomic structure of the human congenital chloride diarrhea (CLD) gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Haila S,
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Höglund P,
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Scherer SW,
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Lee JR,
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Kristo P,
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Coyle B,
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Trembath R,
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Holmberg C,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pendred%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 (35)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38474007">Functional Studies of Deafness-Associated Pendrin and Prestin Variants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Takahashi S,
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Kojima T,
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Wasano K,
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Homma K</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2024 Feb 27;25(5)
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doi: 10.3390/ijms25052759.
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<span class="bold">PMID: </span><a href="/pubmed/38474007" target="_blank">38474007</a><a href="/pmc/articles/PMC10931795" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28941661">Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rapp C,
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Bai X,
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Reithmeier RAF</span><br />
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<span class="medgenPMjournal">Biochim Biophys Acta Biomembr</span>
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Epub 2017 Sep 21
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<span class="bold">PMID: </span><a href="/pubmed/28941661" target="_blank">28941661</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28648509">Pendred syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wémeau JL,
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Kopp P</span><br />
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<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
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2017 Mar;31(2):213-224.
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Epub 2017 May 10
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doi: 10.1016/j.beem.2017.04.011.
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<span class="bold">PMID: </span><a href="/pubmed/28648509" target="_blank">28648509</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27861301">A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf A,
|
||
Frohne A,
|
||
Allen M,
|
||
Parzefall T,
|
||
Koenighofer M,
|
||
Schreiner MM,
|
||
Schoefer C,
|
||
Frei K,
|
||
Lucas T</span><br />
|
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<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2017 Feb;38(2):173-179.
|
||
doi: 10.1097/MAO.0000000000001286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27861301" target="_blank">27861301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9729124">Genomic structure of the human congenital chloride diarrhea (CLD) gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haila S,
|
||
Höglund P,
|
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Scherer SW,
|
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Lee JR,
|
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Kristo P,
|
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Coyle B,
|
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Trembath R,
|
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Holmberg C,
|
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de la Chapelle A,
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Kere J</span><br />
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<span class="medgenPMjournal">Gene</span>
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1998 Jul 3;214(1-2):87-93.
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doi: 10.1016/s0378-1119(98)00261-3.
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<span class="bold">PMID: </span><a href="/pubmed/9729124" target="_blank">9729124</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pendred%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 (63)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/36397213">Cochlear Implantation in Children with Enlarged Vestibular Aqueduct: A Systematic Review of Surgical Implications and Outcomes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hansen MU,
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Rye Rasmussen E,
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Cayé-Thomasen P,
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2023 May-Jun 01;44(3):440-447.
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<span class="bold">PMID: </span><a href="/pubmed/36397213" target="_blank">36397213</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33136026">Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.</a></div>
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Lovett A,
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<div class="nl"><a target="_blank" href="/pubmed/25455162">A systematic review of genetic studies of thyroid disorders in Taiwan.</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/25406869">Prognostic factors for sudden drops in hearing level after minor head injury in patients with an enlarged vestibular aqueduct: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noordman BJ,
|
||
van Beeck Calkoen E,
|
||
Witte B,
|
||
Goverts T,
|
||
Hensen E,
|
||
Merkus P</span><br />
|
||
<span class="medgenPMjournal">Otol Neurotol</span>
|
||
2015 Jan;36(1):4-11.
|
||
doi: 10.1097/MAO.0000000000000659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25406869" target="_blank">25406869</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pendred%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0271829%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (61)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271829%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271829%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271829%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271829%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271829%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (80)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271829%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (19)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0271829%5bDISCUI%5d" target="_blank">See all (95)</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=274600" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=705" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pendred%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=(%22pendred%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></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=601093%20602208%20605646" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2299[geneid]" target="_blank">View FOXI1 variations in ClinVar</a></li><li><a href="/clinvar/?term=3766[geneid]" target="_blank">View KCNJ10 variations in ClinVar</a></li><li><a href="/clinvar/?term=5172[geneid]" target="_blank">View SLC26A4 variations in ClinVar</a></li><li><a href="/nuccore/201026421,237820683,284413720" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=274600" 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="http://www.diseaseinfosearch.org/Pendred+syndrome/5656" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/pendred_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pendred%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/pendred-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4271/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/20301640" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20301607" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Pendred%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Pendred%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" 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=82890" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=82890" ref="log$=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=C0271829[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0271829[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=82890" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=82890" ref="log$=recordlinks">NCBI Bookshelf</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=82890" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=82890" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=82890" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=82890" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=82890" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=82890" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=82890" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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||
Clear
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|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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|
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|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5c0aa68b6b5afca70679">Pendred syndrome</a>
|
||
<div class="ralinkpop offscreen_noflow">Pendred syndrome<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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</li>
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<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5c09b15b832ebc373d49">C0271829[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5c08a68b6b5afca6fc5d">C0205711[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(1)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C0205711[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb5c07b15b832ebc372ef3">Pelizaeus-Merzbacher disease</a>
|
||
<div class="ralinkpop offscreen_noflow">Pelizaeus-Merzbacher disease<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb5c0684f3725e59692cb1">C0205711[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
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|
||
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