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<meta name="keywords" content="C1837618, cild3, ciliary dyskinesia, primary, 3, ciliary dyskinesia, primary, 3, with or without situs inversus, ciliary dyskinesia, primary, type 3, disease or syndrome, dnah5, dnah5 primary ciliary dyskinesia, primary ciliary dyskinesia 3, primary ciliary dyskinesia 3 with or without situs inversus, primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia, primary ciliary dyskinesia caused by mutation in dnah5, primary ciliary dyskinesia type 3, primary ciliary dyskinesia, 3, 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="Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by Afzelius, 1976; El Zein et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 (244400)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=325210
|
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ConceptID=C1837618
|
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-->
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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/NBK1122/bin/pcd-Image001.gif" src-large="/books/NBK1122/bin/pcd-Image001.jpg" /></a><br /><a href="/books/NBK1122/figure/pcd.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Primary ciliary dyskinesia 3<span class="h1sub">(CILD3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325210</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.">C1837618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia</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="DNAH5 - ID: 1767 - NCBI Gene" href="/gene/1767" class="medgenPMinfo">DNAH5</a> (5p15.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012085" target="_blank">MONDO:0012085</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608644" target="_blank">608644</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by Afzelius, 1976; El Zein et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 (244400). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.<br /><br />Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.<br /><br />Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.<br /><br />Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.<br /><br />Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.<br /><br />In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.<br /><br />Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward. <a target="_blank" href="https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia">https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1642262"><div><strong>Situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642262</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.">C4551493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642262">Feature record</a> | <a href="/medgen?term=%22Situs%20inversus%22%5BClinical%20Features%5D%20OR%201642262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</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.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3467"><div><strong>Primary ciliary dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3467</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.">C0008780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/3467">Feature record</a> | <a href="/medgen?term=%22Primary%20ciliary%20dyskinesia%22%5BClinical%20Features%5D%20OR%203467%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107919"><div><strong>Recurrent sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107919</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.">C0581354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A recurrent form of sinusitis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107919">Feature record</a> | <a href="/medgen?term=%22Recurrent%20sinusitis%22%5BClinical%20Features%5D%20OR%20107919%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_767344"><div><strong>Decreased nasal nitric oxide</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767344</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.">C3554430</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767344">Feature record</a> | <a href="/medgen?term=%22Decreased%20nasal%20nitric%20oxide%22%5BClinical%20Features%5D%20OR%20767344%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</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.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_924182"><div><strong>Neonatal respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924182</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.">C4281993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Respiratory difficulty as newborn.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/924182">Feature record</a> | <a href="/medgen?term=%22Neonatal%20respiratory%20distress%22%5BClinical%20Features%5D%20OR%20924182%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_155436"><div><strong>Recurrent otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155436</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.">C0747085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/155436">Feature record</a> | <a href="/medgen?term=%22Recurrent%20otitis%20media%22%5BClinical%20Features%5D%20OR%20155436%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 cardiovascular system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Situs inversus</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent otitis media</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchiectasis</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_767344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased nasal nitric oxide</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal respiratory distress</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent sinusitis</a></span></li></ul></li></ul></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008780[DISCUI]&test_type=Clinical" ref="ncbi_uid=3467">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0008780[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=3467">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=3467">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3467" ref="ncbi_uid=3467">V</a></span></span><span class="TLline"><a href="/medgen/3467" ref="tree=GTR&ncbi_uid=3467&link_uid=3467" title="View MedGen record for 'Primary ciliary dyskinesia'">Primary ciliary dyskinesia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4478372[DISCUI]&test_type=Clinical" ref="ncbi_uid=1393107">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1393107" target="_blank" href="/omim/300933">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1393107" ref="ncbi_uid=1393107">V</a></span></span><span class="TLline"><a href="/medgen/1393107" ref="tree=GTR&ncbi_uid=1393107&link_uid=1393107" title="View MedGen record for 'Ciliary dyskinesia, primary, 36, X-linked'">Ciliary dyskinesia, primary, 36, X-linked</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4539798[DISCUI]&test_type=Clinical" ref="ncbi_uid=1615746">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1615746" target="_blank" href="/omim/603332">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1615746" ref="ncbi_uid=1615746">V</a></span></span><span class="TLline"><a href="/medgen/1615746" ref="tree=GTR&ncbi_uid=1615746&link_uid=1615746" title="View MedGen record for 'Ciliary dyskinesia, primary, 37'">Ciliary dyskinesia, primary, 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4748052[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648465" target="_blank" href="/omim/618058">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648465" ref="ncbi_uid=1648465">V</a></span></span><span class="TLline"><a href="/medgen/1648465" ref="tree=GTR&ncbi_uid=1648465&link_uid=1648465" title="View MedGen record for 'Ciliary dyskinesia, primary, 38'">Ciliary dyskinesia, primary, 38</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551906[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646059">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646059" target="_blank" href="/omim/244400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=1646059">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646059" ref="ncbi_uid=1646059">V</a></span></span><span class="TLline"><a href="/medgen/1646059" ref="tree=GTR&ncbi_uid=1646059&link_uid=1646059" title="View MedGen record for 'Kartagener syndrome'">Kartagener syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847554[DISCUI]&test_type=Clinical" ref="ncbi_uid=338258">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338258" target="_blank" href="/omim/606763">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=338258">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338258" ref="ncbi_uid=338258">V</a></span></span><span class="TLline"><a href="/medgen/338258" ref="tree=GTR&ncbi_uid=338258&link_uid=338258" title="View MedGen record for 'Primary ciliary dyskinesia 2'">Primary ciliary dyskinesia 2</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837618[DISCUI]&test_type=Clinical" ref="ncbi_uid=325210">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325210" target="_blank" href="/omim/603335">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=325210">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325210" ref="ncbi_uid=325210">V</a></span></span><span class="TLline">Primary ciliary dyskinesia 3</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837616[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=324841">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324841" target="_blank" href="/omim/608646">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=324841">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324841" ref="tree=GTR&ncbi_uid=324841&link_uid=324841" title="View MedGen record for 'Primary ciliary dyskinesia 4'">Primary ciliary dyskinesia 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837615[DISCUI]&test_type=Clinical" ref="ncbi_uid=324840">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324840" target="_blank" href="/omim/608647">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=324840">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324840" ref="ncbi_uid=324840">V</a></span></span><span class="TLline"><a href="/medgen/324840" ref="tree=GTR&ncbi_uid=324840&link_uid=324840" title="View MedGen record for 'Primary ciliary dyskinesia 5'">Primary ciliary dyskinesia 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970506[DISCUI]&test_type=Clinical" ref="ncbi_uid=370930">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370930" target="_blank" href="/omim/607421">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=370930">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370930" ref="ncbi_uid=370930">V</a></span></span><span class="TLline"><a href="/medgen/370930" ref="tree=GTR&ncbi_uid=370930&link_uid=370930" title="View MedGen record for 'Primary ciliary dyskinesia 6'">Primary ciliary dyskinesia 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678473[DISCUI]&test_type=Clinical" ref="ncbi_uid=394834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394834" target="_blank" href="/omim/603339">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=394834">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394834" ref="ncbi_uid=394834">V</a></span></span><span class="TLline"><a href="/medgen/394834" ref="tree=GTR&ncbi_uid=394834&link_uid=394834" title="View MedGen record for 'Primary ciliary dyskinesia 7'">Primary ciliary dyskinesia 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677085[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=393653">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393653" target="_blank" href="/omim/612274">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=393653">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/393653" ref="tree=GTR&ncbi_uid=393653&link_uid=393653" title="View MedGen record for 'Primary ciliary dyskinesia 8'">Primary ciliary dyskinesia 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676235[DISCUI]&test_type=Clinical" ref="ncbi_uid=390990">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390990" target="_blank" href="/omim/605483">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=390990">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390990" ref="ncbi_uid=390990">V</a></span></span><span class="TLline"><a href="/medgen/390990" ref="tree=GTR&ncbi_uid=390990&link_uid=390990" title="View MedGen record for 'Primary ciliary dyskinesia 9'">Primary ciliary dyskinesia 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675867[DISCUI]&test_type=Clinical" ref="ncbi_uid=382707">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382707" target="_blank" href="/omim/612517">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=382707">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382707" ref="ncbi_uid=382707">V</a></span></span><span class="TLline"><a href="/medgen/382707" ref="tree=GTR&ncbi_uid=382707&link_uid=382707" title="View MedGen record for 'Primary ciliary dyskinesia 10'">Primary ciliary dyskinesia 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675229[DISCUI]&test_type=Clinical" ref="ncbi_uid=390741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390741" target="_blank" href="/omim/612647">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=390741">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390741" ref="ncbi_uid=390741">V</a></span></span><span class="TLline"><a href="/medgen/390741" ref="tree=GTR&ncbi_uid=390741&link_uid=390741" title="View MedGen record for 'Primary ciliary dyskinesia 11'">Primary ciliary dyskinesia 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675228[DISCUI]&test_type=Clinical" ref="ncbi_uid=436379">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436379" target="_blank" href="/omim/612648">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=436379">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436379" ref="ncbi_uid=436379">V</a></span></span><span class="TLline"><a href="/medgen/436379" ref="tree=GTR&ncbi_uid=436379&link_uid=436379" title="View MedGen record for 'Primary ciliary dyskinesia 12'">Primary ciliary dyskinesia 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750790[DISCUI]&test_type=Clinical" ref="ncbi_uid=413399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413399" target="_blank" href="/omim/613190">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=413399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413399" ref="ncbi_uid=413399">V</a></span></span><span class="TLline"><a href="/medgen/413399" ref="tree=GTR&ncbi_uid=413399&link_uid=413399" title="View MedGen record for 'Primary ciliary dyskinesia 13'">Primary ciliary dyskinesia 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151136[DISCUI]&test_type=Clinical" ref="ncbi_uid=462486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462486" target="_blank" href="/omim/613798">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462486" ref="ncbi_uid=462486">V</a></span></span><span class="TLline"><a href="/medgen/462486" ref="tree=GTR&ncbi_uid=462486&link_uid=462486" title="View MedGen record for 'Primary ciliary dyskinesia 14'">Primary ciliary dyskinesia 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151137[DISCUI]&test_type=Clinical" ref="ncbi_uid=462487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462487" target="_blank" href="/omim/613799">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462487">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462487" ref="ncbi_uid=462487">V</a></span></span><span class="TLline"><a href="/medgen/462487" ref="tree=GTR&ncbi_uid=462487&link_uid=462487" title="View MedGen record for 'Primary ciliary dyskinesia 15'">Primary ciliary dyskinesia 15</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151460[DISCUI]&test_type=Clinical" ref="ncbi_uid=462810">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462810" target="_blank" href="/omim/610062">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462810">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462810" ref="ncbi_uid=462810">V</a></span></span><span class="TLline"><a href="/medgen/462810" ref="tree=GTR&ncbi_uid=462810&link_uid=462810" title="View MedGen record for 'Primary ciliary dyskinesia 16'">Primary ciliary dyskinesia 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3542550[DISCUI]&test_type=Clinical" ref="ncbi_uid=762261">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762261" target="_blank" href="/omim/614677">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762261">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762261" ref="ncbi_uid=762261">V</a></span></span><span class="TLline"><a href="/medgen/762261" ref="tree=GTR&ncbi_uid=762261&link_uid=762261" title="View MedGen record for 'Primary ciliary dyskinesia 17'">Primary ciliary dyskinesia 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3543825[DISCUI]&test_type=Clinical" ref="ncbi_uid=762331">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762331" target="_blank" href="/omim/614864">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762331">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762331" ref="ncbi_uid=762331">V</a></span></span><span class="TLline"><a href="/medgen/762331" ref="tree=GTR&ncbi_uid=762331&link_uid=762331" title="View MedGen record for 'Primary ciliary dyskinesia 18'">Primary ciliary dyskinesia 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3543826[DISCUI]&test_type=Clinical" ref="ncbi_uid=762332">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762332" target="_blank" href="/omim/614930">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762332">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762332" ref="ncbi_uid=762332">V</a></span></span><span class="TLline"><a href="/medgen/762332" ref="tree=GTR&ncbi_uid=762332&link_uid=762332" title="View MedGen record for 'Primary ciliary dyskinesia 19'">Primary ciliary dyskinesia 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3540844[DISCUI]&test_type=Clinical" ref="ncbi_uid=761920">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761920" target="_blank" href="/omim/615038">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=761920">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761920" ref="ncbi_uid=761920">V</a></span></span><span class="TLline"><a href="/medgen/761920" ref="tree=GTR&ncbi_uid=761920&link_uid=761920" title="View MedGen record for 'Primary ciliary dyskinesia 20'">Primary ciliary dyskinesia 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809087[DISCUI]&test_type=Clinical" ref="ncbi_uid=815417">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815417" target="_blank" href="/omim/615288">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815417">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815417" ref="ncbi_uid=815417">V</a></span></span><span class="TLline"><a href="/medgen/815417" ref="tree=GTR&ncbi_uid=815417&link_uid=815417" title="View MedGen record for 'Primary ciliary dyskinesia 21'">Primary ciliary dyskinesia 21</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809543[DISCUI]&test_type=Clinical" ref="ncbi_uid=815873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815873" target="_blank" href="/omim/607070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815873">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815873" ref="ncbi_uid=815873">V</a></span></span><span class="TLline"><a href="/medgen/815873" ref="tree=GTR&ncbi_uid=815873&link_uid=815873" title="View MedGen record for 'Primary ciliary dyskinesia 22'">Primary ciliary dyskinesia 22</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809548[DISCUI]&test_type=Clinical" ref="ncbi_uid=815878">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815878" target="_blank" href="/omim/615408">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815878">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815878" ref="ncbi_uid=815878">V</a></span></span><span class="TLline"><a href="/medgen/815878" ref="tree=GTR&ncbi_uid=815878&link_uid=815878" title="View MedGen record for 'Primary ciliary dyskinesia 23'">Primary ciliary dyskinesia 23</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809634[DISCUI]&test_type=Clinical" ref="ncbi_uid=815964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815964" target="_blank" href="/omim/609314">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815964">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815964" ref="ncbi_uid=815964">V</a></span></span><span class="TLline"><a href="/medgen/815964" ref="tree=GTR&ncbi_uid=815964&link_uid=815964" title="View MedGen record for 'Primary ciliary dyskinesia 24'">Primary ciliary dyskinesia 24</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809641[DISCUI]&test_type=Clinical" ref="ncbi_uid=815971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815971" target="_blank" href="/omim/608706">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815971">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815971" ref="ncbi_uid=815971">V</a></span></span><span class="TLline"><a href="/medgen/815971" ref="tree=GTR&ncbi_uid=815971&link_uid=815971" title="View MedGen record for 'Primary ciliary dyskinesia 25'">Primary ciliary dyskinesia 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809684[DISCUI]&test_type=Clinical" ref="ncbi_uid=816014">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816014" target="_blank" href="/omim/615500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816014">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816014" ref="ncbi_uid=816014">V</a></span></span><span class="TLline"><a href="/medgen/816014" ref="tree=GTR&ncbi_uid=816014&link_uid=816014" title="View MedGen record for 'Primary ciliary dyskinesia 26'">Primary ciliary dyskinesia 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809701[DISCUI]&test_type=Clinical" ref="ncbi_uid=816031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816031" target="_blank" href="/omim/611088">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816031" ref="ncbi_uid=816031">V</a></span></span><span class="TLline"><a href="/medgen/816031" ref="tree=GTR&ncbi_uid=816031&link_uid=816031" title="View MedGen record for 'Primary ciliary dyskinesia 27'">Primary ciliary dyskinesia 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809706[DISCUI]&test_type=Clinical" ref="ncbi_uid=816036">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816036" target="_blank" href="/omim/603395">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816036">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816036" ref="ncbi_uid=816036">V</a></span></span><span class="TLline"><a href="/medgen/816036" ref="tree=GTR&ncbi_uid=816036&link_uid=816036" title="View MedGen record for 'Primary ciliary dyskinesia 28'">Primary ciliary dyskinesia 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014534[DISCUI]&test_type=Clinical" ref="ncbi_uid=862971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862971" target="_blank" href="/omim/607752">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=862971">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862971" ref="ncbi_uid=862971">V</a></span></span><span class="TLline"><a href="/medgen/862971" ref="tree=GTR&ncbi_uid=862971&link_uid=862971" title="View MedGen record for 'Primary ciliary dyskinesia 29'">Primary ciliary dyskinesia 29</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015016[DISCUI]&test_type=Clinical" ref="ncbi_uid=863453">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863453" target="_blank" href="/omim/615956">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=863453">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863453" ref="ncbi_uid=863453">V</a></span></span><span class="TLline"><a href="/medgen/863453" ref="tree=GTR&ncbi_uid=863453&link_uid=863453" title="View MedGen record for 'Primary ciliary dyskinesia 30'">Primary ciliary dyskinesia 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225311[DISCUI]&test_type=Clinical" ref="ncbi_uid=896106">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=896106" target="_blank" href="/omim/615876">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=896106" ref="ncbi_uid=896106">V</a></span></span><span class="TLline"><a href="/medgen/896106" ref="tree=GTR&ncbi_uid=896106&link_uid=896106" title="View MedGen record for 'Primary ciliary dyskinesia 32'">Primary ciliary dyskinesia 32</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225230[DISCUI]&test_type=Clinical" ref="ncbi_uid=898734">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=898734" target="_blank" href="/omim/605178">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=898734" ref="ncbi_uid=898734">V</a></span></span><span class="TLline"><a href="/medgen/898734" ref="tree=GTR&ncbi_uid=898734&link_uid=898734" title="View MedGen record for 'Primary ciliary dyskinesia 33'">Primary ciliary dyskinesia 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310722[DISCUI]&test_type=Clinical" ref="ncbi_uid=934689">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934689" target="_blank" href="/omim/610263">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934689" ref="ncbi_uid=934689">V</a></span></span><span class="TLline"><a href="/medgen/934689" ref="tree=GTR&ncbi_uid=934689&link_uid=934689" title="View MedGen record for 'Primary ciliary dyskinesia 34'">Primary ciliary dyskinesia 34</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310721[DISCUI]&test_type=Clinical" ref="ncbi_uid=934688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934688" target="_blank" href="/omim/617092">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934688" ref="ncbi_uid=934688">V</a></span></span><span class="TLline"><a href="/medgen/934688" ref="tree=GTR&ncbi_uid=934688&link_uid=934688" title="View MedGen record for 'Primary ciliary dyskinesia 35'">Primary ciliary dyskinesia 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855705[DISCUI]&test_type=Clinical" ref="ncbi_uid=340938">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340938" target="_blank" href="/omim/243605">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK586170/" ref="ncbi_uid=340938">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340938" ref="ncbi_uid=340938">V</a></span></span><span class="TLline"><a href="/medgen/340938" ref="tree=GTR&ncbi_uid=340938&link_uid=340938" title="View MedGen record for 'Stromme syndrome'">Stromme syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868585" ref="tree=MeSH" title="MedGen record for Abnormal respiratory motile cilium physiology">Abnormal respiratory motile cilium physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868584" ref="tree=MeSH" title="MedGen record for Abnormal ciliary motility">Abnormal ciliary motility</a></span><ul><li><span class="TLline"><a href="/medgen/3467" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></span><ul><li><span class="matched_ds">Primary ciliary dyskinesia 3</span></li></ul></li></ul></li></ul></li></ul></li></ul></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/36639347">Primary Ciliary Dyskinesia and Bronchiectasis: New Data and Future Challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pioch CO,
|
||
Connell DW,
|
||
Shoemark A</span><br />
|
||
<span class="medgenPMjournal">Arch Bronconeumol</span>
|
||
2023 Mar;59(3):134-136.
|
||
Epub 2022 Dec 18
|
||
doi: 10.1016/j.arbres.2022.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36639347" target="_blank">36639347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32329626">Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro AJ,
|
||
Davis SD,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Lavergne V,
|
||
Ferkol T</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2020 Aug 1;202(3):476-477.
|
||
doi: 10.1164/rccm.202003-0835LE.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32329626" target="_blank">32329626</a><a href="/pmc/articles/PMC7397801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27581415">Diagnostic testing in primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
|
||
Dimitrov BD,
|
||
Behan L,
|
||
Kuehni CE</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2016 Sep;48(3):960-1.
|
||
doi: 10.1183/13993003.00909-2016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27581415" target="_blank">27581415</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(primary%20ciliary%20dyskinesia%203)%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 (72)</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/37516247">Primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raidt J,
|
||
Loges NT,
|
||
Olbrich H,
|
||
Wallmeier J,
|
||
Pennekamp P,
|
||
Omran H</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2023 Sep;52(3):104171.
|
||
Epub 2023 Jul 27
|
||
doi: 10.1016/j.lpm.2023.104171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37516247" target="_blank">37516247</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33577779">Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guan Y,
|
||
Yang H,
|
||
Yao X,
|
||
Xu H,
|
||
Liu H,
|
||
Tang X,
|
||
Hao C,
|
||
Zhang X,
|
||
Zhao S,
|
||
Ge W,
|
||
Ni X</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2021 May;159(5):1768-1781.
|
||
Epub 2021 Feb 10
|
||
doi: 10.1016/j.chest.2021.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33577779" target="_blank">33577779</a><a href="/pmc/articles/PMC8129725" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33039432">Ciliopathies and the Kidney: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McConnachie DJ,
|
||
Stow JL,
|
||
Mallett AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Mar;77(3):410-419.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1053/j.ajkd.2020.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33039432" target="_blank">33039432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577259">Syndromic infertility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerri G,
|
||
Maniscalchi T,
|
||
Barati S,
|
||
Dhuli K,
|
||
Busetto GM,
|
||
Del Giudice F,
|
||
De Berardinis E,
|
||
De Antoni L,
|
||
Miertus J,
|
||
Bertelli M</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2019 Sep 30;90(10-S):75-82.
|
||
doi: 10.23750/abm.v90i10-S.8764.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577259" target="_blank">31577259</a><a href="/pmc/articles/PMC7233644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%203%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 (255)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37516247">Primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raidt J,
|
||
Loges NT,
|
||
Olbrich H,
|
||
Wallmeier J,
|
||
Pennekamp P,
|
||
Omran H</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2023 Sep;52(3):104171.
|
||
Epub 2023 Jul 27
|
||
doi: 10.1016/j.lpm.2023.104171.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37516247" target="_blank">37516247</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33577779">Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guan Y,
|
||
Yang H,
|
||
Yao X,
|
||
Xu H,
|
||
Liu H,
|
||
Tang X,
|
||
Hao C,
|
||
Zhang X,
|
||
Zhao S,
|
||
Ge W,
|
||
Ni X</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2021 May;159(5):1768-1781.
|
||
Epub 2021 Feb 10
|
||
doi: 10.1016/j.chest.2021.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33577779" target="_blank">33577779</a><a href="/pmc/articles/PMC8129725" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28250080">Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butterfield R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2017 Mar;38(3):145-146.
|
||
doi: 10.1542/pir.2016-0108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28250080" target="_blank">28250080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
|
||
Farwell KD,
|
||
Vuong H,
|
||
Lu HM,
|
||
Mu W,
|
||
Shahmirzadi L,
|
||
Tang S,
|
||
Chen J,
|
||
Bhide S,
|
||
Chao EC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(2):e0170843.
|
||
Epub 2017 Feb 2
|
||
doi: 10.1371/journal.pone.0170843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%203%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 (346)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
||
Shapiro AJ,
|
||
Nielsen KG,
|
||
Mazurek H,
|
||
Pifferi M,
|
||
Donn KH,
|
||
van der Eerden MM,
|
||
Loebinger MR,
|
||
Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
||
Epub 2023 Aug 31
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
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Rosenfeld M,
|
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Lee HS,
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Ferkol TW,
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Sagel SD,
|
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Dell SD,
|
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Milla C,
|
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Pittman JE,
|
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Shapiro AJ,
|
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Sullivan KM,
|
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Nykamp KR,
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Krischer JP,
|
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Zariwala MA,
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Knowles MR,
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Leigh MW</span><br />
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<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
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2019 Jan 15;199(2):190-198.
|
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<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
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Farwell KD,
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Vuong H,
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Lu HM,
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Mu W,
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<span class="medgenPMjournal">PLoS One</span>
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<div class="nl"><a target="_blank" href="/pubmed/27514592">Primary Ciliary Dyskinesia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Knowles MR,
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Zariwala M,
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<div class="nl"><a target="_blank" href="/pubmed/16627867">DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hornef N,
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Olbrich H,
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Horvath J,
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Zariwala MA,
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Fliegauf M,
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Loges NT,
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Wildhaber J,
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Noone PG,
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Kennedy M,
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Antonarakis SE,
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Blouin JL,
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Bartoloni L,
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Nüsslein T,
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Ahrens P,
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Griese M,
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Kuhl H,
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Sudbrak R,
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Knowles MR,
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Reinhardt R,
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Omran H</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%203%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 (101)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38871375">Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.</a></div>
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<span class="medgenPMjournal">Eur Respir J</span>
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<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
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Shapiro AJ,
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Nielsen KG,
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Mazurek H,
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Pifferi M,
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Donn KH,
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van der Eerden MM,
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Loebinger MR,
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Zariwala MA,
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Leigh MW,
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Knowles MR,
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Ferkol TW;
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<span class="medgenPMjournal">Lancet Respir Med</span>
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2024 Jan;12(1):21-33.
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<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
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Rosenfeld M,
|
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Lee HS,
|
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Ferkol TW,
|
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Sagel SD,
|
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Dell SD,
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Milla C,
|
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Pittman JE,
|
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Shapiro AJ,
|
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Sullivan KM,
|
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Nykamp KR,
|
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Krischer JP,
|
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Zariwala MA,
|
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Knowles MR,
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Leigh MW</span><br />
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<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
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2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
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<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
|
||
Farwell KD,
|
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Vuong H,
|
||
Lu HM,
|
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Mu W,
|
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Shahmirzadi L,
|
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Tang S,
|
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Chen J,
|
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Bhide S,
|
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Chao EC</span><br />
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<span class="medgenPMjournal">PLoS One</span>
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2017;12(2):e0170843.
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Epub 2017 Feb 2
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doi: 10.1371/journal.pone.0170843.
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<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/12585738">Post-traumatic pseudomyopia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">London R,
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Wick B,
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Kirschen D</span><br />
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2003 Feb;74(2):111-20.
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<span class="bold">PMID: </span><a href="/pubmed/12585738" target="_blank">12585738</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%203%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 (123)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/37975235">CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jreijiri F,
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Cavarocchi E,
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Amiri-Yekta A,
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Cazin C,
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Hosseini SH,
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El Khouri E,
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Ray PF,
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<span class="medgenPMjournal">Clin Genet</span>
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2024 Mar;105(3):317-322.
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Epub 2023 Nov 17
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doi: 10.1111/cge.14459.
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<span class="bold">PMID: </span><a href="/pubmed/37975235" target="_blank">37975235</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33577779">Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guan Y,
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Yang H,
|
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Yao X,
|
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Xu H,
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Liu H,
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Tang X,
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Hao C,
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Zhang X,
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Zhao S,
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Ge W,
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Ni X</span><br />
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<span class="medgenPMjournal">Chest</span>
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2021 May;159(5):1768-1781.
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Epub 2021 Feb 10
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doi: 10.1016/j.chest.2021.02.006.
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<span class="bold">PMID: </span><a href="/pubmed/33577779" target="_blank">33577779</a><a href="/pmc/articles/PMC8129725" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
|
||
Farwell KD,
|
||
Vuong H,
|
||
Lu HM,
|
||
Mu W,
|
||
Shahmirzadi L,
|
||
Tang S,
|
||
Chen J,
|
||
Bhide S,
|
||
Chao EC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(2):e0170843.
|
||
Epub 2017 Feb 2
|
||
doi: 10.1371/journal.pone.0170843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16627867">DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hornef N,
|
||
Olbrich H,
|
||
Horvath J,
|
||
Zariwala MA,
|
||
Fliegauf M,
|
||
Loges NT,
|
||
Wildhaber J,
|
||
Noone PG,
|
||
Kennedy M,
|
||
Antonarakis SE,
|
||
Blouin JL,
|
||
Bartoloni L,
|
||
Nüsslein T,
|
||
Ahrens P,
|
||
Griese M,
|
||
Kuhl H,
|
||
Sudbrak R,
|
||
Knowles MR,
|
||
Reinhardt R,
|
||
Omran H</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2006 Jul 15;174(2):120-6.
|
||
Epub 2006 Apr 20
|
||
doi: 10.1164/rccm.200601-084OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16627867" target="_blank">16627867</a><a href="/pmc/articles/PMC2662904" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%203%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 (208)</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/39269762">Airway Clearance Techniques in Primary Ciliary Dyskinesia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qian L,
|
||
Lam B,
|
||
Zheng T,
|
||
Russo D,
|
||
Ma J,
|
||
Yao X</span><br />
|
||
<span class="medgenPMjournal">P R Health Sci J</span>
|
||
2024 Sep;43(3):119-124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39269762" target="_blank">39269762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35926429">A systematic review of lung clearance index in non-cystic fibrosis, non-primary ciliary dyskinesia bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hine C,
|
||
Desai M,
|
||
Davies J,
|
||
Sapey E,
|
||
Nagakumar P</span><br />
|
||
<span class="medgenPMjournal">Respir Med</span>
|
||
2022 Sep;201:106937.
|
||
Epub 2022 Jul 21
|
||
doi: 10.1016/j.rmed.2022.106937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35926429" target="_blank">35926429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31345208">Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Inaba A,
|
||
Furuhata M,
|
||
Morimoto K,
|
||
Rahman M,
|
||
Takahashi O,
|
||
Hijikata M,
|
||
Knowles MR,
|
||
Keicho N</span><br />
|
||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2019 Jul 25;19(1):135.
|
||
doi: 10.1186/s12890-019-0897-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31345208" target="_blank">31345208</a><a href="/pmc/articles/PMC6659197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27312809">Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adil EA,
|
||
Kawai K,
|
||
Dombrowski N,
|
||
Irace AL,
|
||
Cunningham MJ</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2017 Jan;127(1):6-13.
|
||
Epub 2016 Jun 16
|
||
doi: 10.1002/lary.26070.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27312809" target="_blank">27312809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25323224">Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collins SA,
|
||
Gove K,
|
||
Walker W,
|
||
Lucas JS</span><br />
|
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<span class="medgenPMjournal">Eur Respir J</span>
|
||
2014 Dec;44(6):1589-99.
|
||
Epub 2014 Oct 16
|
||
doi: 10.1183/09031936.00088614.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25323224" target="_blank">25323224</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%203%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 (16)</a></div></div>
|
||
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<div id="messagearea_bottom">
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<div class=" bottom">
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</div>
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</div>
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_106">
|
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<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=C1837618%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (44)</a></li>
|
||
<li><a href="/gtr/tests?term=C1837618%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1837618%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1837618%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1837618%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C1837618%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (61)</a></li>
|
||
<li><a href="/gtr/tests?term=C1837618%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1837618%5bDISCUI%5d" target="_blank">See all (66)</a></total></li>
|
||
</ul></div>
|
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</div>
|
||
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<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=608644" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Primary%20ciliary%20dyskinesia%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(primary%20ciliary%20dyskinesia%203)%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>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=603335" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1767[geneid]" target="_blank">View DNAH5 variations in ClinVar</a></li><li><a href="/nuccore/261278320" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=608644" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Ciliary+dyskinesia%2C+primary%2C+3/7988" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/ciliary_dyskinesia_primary_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Primary%20ciliary%20dyskinesia%203" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15436/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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<div class="portlet brieflink">
|
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<h3>Reviews</h3>
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||
<li>
|
||
<a href="/pubmed/20301301" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Primary%20ciliary%20dyskinesia%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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|
||
<a href="/pubmed?term=Primary%20ciliary%20dyskinesia%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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|
||
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|
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=325210" ref="log$=recordlinks">ClinVar</a>
|
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=325210" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1837618[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
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|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1837618[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=325210" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=325210" ref="log$=recordlinks">NCBI Bookshelf</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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|
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|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=325210" ref="log$=recordlinks">OMIM</a>
|
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
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|
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=325210" ref="log$=recordlinks">OMIM(Genes)</a>
|
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=325210" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=325210" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=325210" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=325210" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=325210" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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|
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|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d51d062f30673f7bf2cc89">Primary ciliary dyskinesia 3</a>
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<div class="ralinkpop offscreen_noflow">Primary ciliary dyskinesia 3<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d51d0184f3725e593333ed">Primary ciliary dyskinesia 2</a>
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<div class="ralinkpop offscreen_noflow">Primary ciliary dyskinesia 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d51cfc67c23b31e0ad1ec6">Primary ciliary dyskinesia 6</a>
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<div class="ralinkpop offscreen_noflow">Primary ciliary dyskinesia 6<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d51cf784f3725e59330877">Primary ciliary dyskinesia 10</a>
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<div class="ralinkpop offscreen_noflow">Primary ciliary dyskinesia 10<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d51cf22f30673f7bf27bcd">Primary ciliary dyskinesia 11</a>
|
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<div class="ralinkpop offscreen_noflow">Primary ciliary dyskinesia 11<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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