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<meta name="keywords" content="C0008780, bronchiectasis, chronic sinusitis and dextrocardia syndrome, ciliary dyskinesia, ciliary dyskinesia primary, ciliary dyskinesias, ciliary motility defect, ciliary motility disorder, ciliary motility disorders, dextrocardia bronchiectasis and sinusitis, dextrocardia-bronchiectasis-sinusitis syndrome, disease or syndrome, disorder, ciliary motility, dnaaf5, dyskinesia, ciliary, dysmotile cilia syndrome, ics, ics - immotile cilia syndrome, immotile cilia syndrome, immotile cilia syndrome, kartagener type, immotile ciliary syndrome, kartagener syndrome, kartagener's syndrome, lack of coordinated beating of respiratory cilia, pcd, primary ciliary dyskinesia, primary ciliary dyskinesia and situs inversus, primary ciliary dyskinesia, kartagener type, siewert syndrome, 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 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." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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||
<!--
|
||
UID=3467
|
||
ConceptID=C0008780
|
||
-->
|
||
<!--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</div></h1><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."><span class="highlight" style="background-color:">C0008780</span></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>Ciliary dyskinesia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>ICS - Immotile cilia syndrome (86204009); Dysmotile cilia syndrome (86204009); Immotile cilia syndrome (86204009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DNAAF5 - ID: 54919 - NCBI Gene" href="/gene/54919" class="medgenPMinfo">DNAAF5</a> (7p22.3)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/388389">DNAAF19</a>, <a target="_blank" href="/gene/374407">DNAJB13</a>, <a target="_blank" href="/gene/352909">DNAAF3</a>, <a target="_blank" href="/gene/345895">RSPH4A</a>, <a target="_blank" href="/gene/339829">CCDC39</a>, <a target="_blank" href="/gene/221421">RSPH9</a>, <a target="_blank" href="/gene/161582">DNAAF4</a>, <a target="_blank" href="/gene/139212">DNAAF6</a>, <a target="_blank" href="/gene/123872">DNAAF1</a>, <a target="_blank" href="/gene/115948">ODAD3</a>, <a target="_blank" href="/gene/93233">ODAD1</a>, <a target="_blank" href="/gene/92749">DRC1</a>, <a target="_blank" href="/gene/89765">RSPH1</a>, <a target="_blank" href="/gene/85478">CCDC65</a>, <a target="_blank" href="/gene/85016">CFAP300</a>, <a target="_blank" href="/gene/83861">RSPH3</a>, <a target="_blank" href="/gene/83544">DNAL1</a>, <a target="_blank" href="/gene/83538">ODAD4</a>, <a target="_blank" href="/gene/64446">DNAI2</a>, <a target="_blank" href="/gene/56683">CFAP298</a>, <a target="_blank" href="/gene/55172">DNAAF2</a>, <a target="_blank" href="/gene/55130">ODAD2</a>, <a target="_blank" href="/gene/55036">CCDC40</a>, <a target="_blank" href="/gene/54768">HYDIN</a>, <a target="_blank" href="/gene/51364">ZMYND10</a>, <a target="_blank" href="/gene/51314">NME8</a>, <a target="_blank" href="/gene/27019">DNAI1</a>, <a target="_blank" href="/gene/25981">DNAH1</a>, <a target="_blank" href="/gene/23639">DNAAF11</a>, <a target="_blank" href="/gene/10309">CCNO</a>, <a target="_blank" href="/gene/8701">DNAH11</a>, <a target="_blank" href="/gene/6674">SPAG1</a>, <a target="_blank" href="/gene/2622">GAS8</a>, <a target="_blank" href="/gene/1767">DNAH5</a>, <a target="_blank" href="/gene/1063">CENPF</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012265">HP:0012265</a></td></tr>
|
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<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016575" target="_blank">MONDO:0016575</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS244400" target="_blank">PS244400</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=244">ORPHA244</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">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.<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 />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 />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 />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 />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 />Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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="matched_ds"><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">Primary ciliary dyskinesia</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="TLclosed"><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"><a href="/medgen/325210" ref="tree=GTR&ncbi_uid=325210&link_uid=325210" title="View MedGen record for 'Primary ciliary dyskinesia 3'">Primary ciliary dyskinesia 3</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=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="matched_ds">Primary ciliary dyskinesia</span><ul><li><span class="TLline"><a href="/medgen/1393107" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 36, X-linked">Ciliary dyskinesia, primary, 36, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/1615746" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 37">Ciliary dyskinesia, primary, 37</a></span></li><li><span class="TLline"><a href="/medgen/1648465" ref="tree=MeSH" title="MedGen record for Ciliary dyskinesia, primary, 38">Ciliary dyskinesia, primary, 38</a></span></li><li><span class="TLline"><a href="/medgen/1646059" ref="tree=MeSH" title="MedGen record for Kartagener syndrome">Kartagener syndrome</a></span></li><li><span class="TLline"><a href="/medgen/338258" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 2">Primary ciliary dyskinesia 2</a></span></li><li><span class="TLline"><a href="/medgen/325210" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 3">Primary ciliary dyskinesia 3</a></span></li><li><span class="TLline"><a href="/medgen/324841" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 4">Primary ciliary dyskinesia 4</a></span></li><li><span class="TLline"><a href="/medgen/324840" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 5">Primary ciliary dyskinesia 5</a></span></li><li><span class="TLline"><a href="/medgen/370930" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 6">Primary ciliary dyskinesia 6</a></span></li><li><span class="TLline"><a href="/medgen/394834" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 7">Primary ciliary dyskinesia 7</a></span></li><li><span class="TLline"><a href="/medgen/393653" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 8">Primary ciliary dyskinesia 8</a></span></li><li><span class="TLline"><a href="/medgen/390990" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 9">Primary ciliary dyskinesia 9</a></span></li><li><span class="TLline"><a href="/medgen/382707" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 10">Primary ciliary dyskinesia 10</a></span></li><li><span class="TLline"><a href="/medgen/390741" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 11">Primary ciliary dyskinesia 11</a></span></li><li><span class="TLline"><a href="/medgen/436379" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 12">Primary ciliary dyskinesia 12</a></span></li><li><span class="TLline"><a href="/medgen/413399" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 13">Primary ciliary dyskinesia 13</a></span></li><li><span class="TLline"><a href="/medgen/462486" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 14">Primary ciliary dyskinesia 14</a></span></li><li><span class="TLline"><a href="/medgen/462487" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 15">Primary ciliary dyskinesia 15</a></span></li><li><span class="TLline"><a href="/medgen/462810" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 16">Primary ciliary dyskinesia 16</a></span></li><li><span class="TLline"><a href="/medgen/762261" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 17">Primary ciliary dyskinesia 17</a></span></li><li><span class="TLline"><a href="/medgen/762331" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 18">Primary ciliary dyskinesia 18</a></span></li><li><span class="TLline"><a href="/medgen/762332" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 19">Primary ciliary dyskinesia 19</a></span></li><li><span class="TLline"><a href="/medgen/761920" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 20">Primary ciliary dyskinesia 20</a></span></li><li><span class="TLline"><a href="/medgen/815417" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 21">Primary ciliary dyskinesia 21</a></span></li><li><span class="TLline"><a href="/medgen/815873" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 22">Primary ciliary dyskinesia 22</a></span></li><li><span class="TLline"><a href="/medgen/815878" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 23">Primary ciliary dyskinesia 23</a></span></li><li><span class="TLline"><a href="/medgen/815964" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 24">Primary ciliary dyskinesia 24</a></span></li><li><span class="TLline"><a href="/medgen/815971" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 25">Primary ciliary dyskinesia 25</a></span></li><li><span class="TLline"><a href="/medgen/816014" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 26">Primary ciliary dyskinesia 26</a></span></li><li><span class="TLline"><a href="/medgen/816031" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 27">Primary ciliary dyskinesia 27</a></span></li><li><span class="TLline"><a href="/medgen/816036" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 28">Primary ciliary dyskinesia 28</a></span></li><li><span class="TLline"><a href="/medgen/862971" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 29">Primary ciliary dyskinesia 29</a></span></li><li><span class="TLline"><a href="/medgen/863453" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 30">Primary ciliary dyskinesia 30</a></span></li><li><span class="TLline"><a href="/medgen/896106" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 32">Primary ciliary dyskinesia 32</a></span></li><li><span class="TLline"><a href="/medgen/898734" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 33">Primary ciliary dyskinesia 33</a></span></li><li><span class="TLline"><a href="/medgen/934689" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 34">Primary ciliary dyskinesia 34</a></span></li><li><span class="TLline"><a href="/medgen/934688" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia 35">Primary ciliary dyskinesia 35</a></span></li><li><span class="TLline"><a href="/medgen/340938" ref="tree=MeSH" title="MedGen record for Stromme syndrome">Stromme syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_137933"><div><strong>Immotile cilia syndrome due to defective radial spokes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137933</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.">C0340035</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/137933">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324840"><div><strong>Primary ciliary dyskinesia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324840</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.">C1837615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-5 (CILD5) is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324840">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325210"><div><strong>Primary ciliary dyskinesia 3</strong><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></div>
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<div class="spaceAbove">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).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325210">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338258"><div><strong>Primary ciliary dyskinesia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338258</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.">C1847554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-2 (CILD2) is an autosomal recessive disorder arising from immotile cilia that lack both outer and inner dynein arms. Ineffective airway mucociliary clearance usually manifests within the first year of life with recurrent infections resulting in a chronic respiratory condition and progressing to permanent lung damage. Some patients have nasal polyps, infertility, or hearing loss. About half of patients have situs inversus (Mitchison et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338258">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_384046"><div><strong>Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384046</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.">C1857052</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 rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/384046">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_370930"><div><strong>Primary ciliary dyskinesia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370930</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.">C1970506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\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\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\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\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\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\nPrimary 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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/370930">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_388736"><div><strong>Ciliary dyskinesia with transposition of ciliary microtubules</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388736</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.">C2673817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/388736">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_436379"><div><strong>Primary ciliary dyskinesia 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436379</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.">C2675228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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/436379">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_390741"><div><strong>Primary ciliary dyskinesia 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390741</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.">C2675229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\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\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\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\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\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\nPrimary 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.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/390741">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382707"><div><strong>Primary ciliary dyskinesia 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382707</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.">C2675867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-10 (CILD10) is characterized by recurrent respiratory tract infections, sinusitis, otitis media, and bronchiectasis. Situs inversus may be present. Infertility in affected males results from immotile sperm (Omran et al., 2008, Sun et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382707">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_390990"><div><strong>Primary ciliary dyskinesia 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390990</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.">C2676235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia 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 (Afzelius, 1976; El Zein et al., 2003). For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/390990">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_394834"><div><strong>Primary ciliary dyskinesia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394834</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.">C2678473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia 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 (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).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/394834">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_413399"><div><strong>Primary ciliary dyskinesia 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413399</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.">C2750790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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\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\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\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/413399">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462486"><div><strong>Primary ciliary dyskinesia 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462486</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.">C3151136</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462486">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462487"><div><strong>Primary ciliary dyskinesia 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462487</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.">C3151137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462487">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462810"><div><strong>Primary ciliary dyskinesia 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462810</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.">C3151460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462810">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761920"><div><strong>Primary ciliary dyskinesia 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761920</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.">C3540844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761920">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762261"><div><strong>Primary ciliary dyskinesia 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762261</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.">C3542550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762261">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762331"><div><strong>Primary ciliary dyskinesia 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762331</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.">C3543825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-18 (CILD18) is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762331">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762332"><div><strong>Primary ciliary dyskinesia 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762332</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.">C3543826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-19 (CILD19) is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by Kott et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762332">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815417"><div><strong>Primary ciliary dyskinesia 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815417</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.">C3809087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815417">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815873"><div><strong>Primary ciliary dyskinesia 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815873</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.">C3809543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by Zariwala et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815873">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815878"><div><strong>Primary ciliary dyskinesia 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815878</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.">C3809548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by Hjeij et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815878">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815964"><div><strong>Primary ciliary dyskinesia 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815964</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.">C3809634</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by Kott et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815964">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815971"><div><strong>Primary ciliary dyskinesia 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815971</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.">C3809641</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815971">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816014"><div><strong>Primary ciliary dyskinesia 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816014</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.">C3809684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816014">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816031"><div><strong>Primary ciliary dyskinesia 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816031</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.">C3809701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816036"><div><strong>Primary ciliary dyskinesia 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816036</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.">C3809706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-28 (CILD28) is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816036">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862971"><div><strong>Primary ciliary dyskinesia 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862971</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.">C4014534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862971">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863453"><div><strong>Primary ciliary dyskinesia 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863453</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.">C4015016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863453">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_898734"><div><strong>Primary ciliary dyskinesia 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898734</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.">C4225230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898734">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896106"><div><strong>Primary ciliary dyskinesia 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896106</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.">C4225311</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896106">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646059"><div><strong>Kartagener syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646059</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.">C4551906</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 genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), 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 (Afzelius, 1976; El Zein et al., 2003). Genetic Heterogeneity of Primary Ciliary Dyskinesia Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the DNAAF19 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the DNAAF11 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the DNAAF6 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11. Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455. Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1646059">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1780196"><div><strong>Ciliary dyskinesia, primary, 46</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780196</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.">C5543646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-46 (CILD46) is characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. No situs abnormalities have been observed (Edelbusch et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1780196">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824064"><div><strong>Ciliary dyskinesia, primary, 49, without situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824064</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.">C5774291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-49 (CILD49) without situs inversus is an autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Affected males also show infertility due to defective flagellar morphology and function. Nasal nitric oxide (NO) levels are normal and situs abnormalities are not observed (Sha et al., 2020; Biebach et al., 2022). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824064">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia with transposition of ciliary microtubules</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 46</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 49, without situs inversus</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_384046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immotile cilia syndrome due to defective radial spokes</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (35)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kartagener syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382707" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 10</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 11</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 12</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 13</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 15</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462810" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 16</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 18</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 19</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 20</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 21</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815873" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 22</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815878" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 23</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815964" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 24</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 25</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 26</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 27</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 28</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 29</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 30</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 32</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 33</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 9</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/30004251">Primary Ciliary Dyskinesia (PCD).</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro A,
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Davis S,
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Manion M,
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Briones K</span><br />
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<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
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2018 Jul 15;198(2):P3-P4.
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doi: 10.1164/rccm.1982P3.
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<span class="bold">PMID: </span><a href="/pubmed/30004251" target="_blank">30004251</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29905515">Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro AJ,
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Davis SD,
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Polineni D,
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Manion M,
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Rosenfeld M,
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Dell SD,
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Chilvers MA,
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Ferkol TW,
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Zariwala MA,
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Sagel SD,
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Josephson M,
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Morgan L,
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Yilmaz O,
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Olivier KN,
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Milla C,
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Pittman JE,
|
||
Daniels MLA,
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Jones MH,
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||
Janahi IA,
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||
Ware SM,
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Daniel SJ,
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||
Cooper ML,
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Nogee LM,
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Anton B,
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Eastvold T,
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Ehrne L,
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Guadagno E,
|
||
Knowles MR,
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||
Leigh MW,
|
||
Lavergne V;
|
||
American Thoracic Society Assembly on Pediatrics</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2018 Jun 15;197(12):e24-e39.
|
||
doi: 10.1164/rccm.201805-0819ST.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29905515" target="_blank">29905515</a><a href="/pmc/articles/PMC6006411" 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=(%22primary%20ciliary%20dyskinesia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (177)</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/34801143">Syndromic Hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varagur K,
|
||
Sanka SA,
|
||
Strahle JM</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
|
||
2022 Jan;33(1):67-79.
|
||
doi: 10.1016/j.nec.2021.09.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34801143" target="_blank">34801143</a><a href="/pmc/articles/PMC8985913" target="_blank" class="PubMedFree">Free PMC Article</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/32943623">Motile ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wallmeier J,
|
||
Nielsen KG,
|
||
Kuehni CE,
|
||
Lucas JS,
|
||
Leigh MW,
|
||
Zariwala MA,
|
||
Omran H</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2020 Sep 17;6(1):77.
|
||
doi: 10.1038/s41572-020-0209-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32943623" target="_blank">32943623</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31624012">Primary ciliary dyskinesia in the genomics age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
|
||
Davis SD,
|
||
Omran H,
|
||
Shoemark A</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2020 Feb;8(2):202-216.
|
||
Epub 2019 Oct 14
|
||
doi: 10.1016/S2213-2600(19)30374-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31624012" target="_blank">31624012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%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 (464)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38695103">Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wee WB,
|
||
Kinghorn B,
|
||
Davis SD,
|
||
Ferkol TW,
|
||
Shapiro AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2024 Jun 1;153(6)
|
||
doi: 10.1542/peds.2023-063064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38695103" target="_blank">38695103</a><a href="/pmc/articles/PMC11153322" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/35236553">Diagnosis of Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goutaki M,
|
||
Shoemark A</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2022 Mar;43(1):127-140.
|
||
doi: 10.1016/j.ccm.2021.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35236553" target="_blank">35236553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33242470">Understanding Primary Ciliary Dyskinesia and Other Ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horani A,
|
||
Ferkol TW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2021 Mar;230:15-22.e1.
|
||
Epub 2020 Nov 23
|
||
doi: 10.1016/j.jpeds.2020.11.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33242470" target="_blank">33242470</a><a href="/pmc/articles/PMC8690631" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31624012">Primary ciliary dyskinesia in the genomics age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
|
||
Davis SD,
|
||
Omran H,
|
||
Shoemark A</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2020 Feb;8(2):202-216.
|
||
Epub 2019 Oct 14
|
||
doi: 10.1016/S2213-2600(19)30374-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31624012" target="_blank">31624012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%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 (760)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34575997">Current and Future Treatments in Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paff T,
|
||
Omran H,
|
||
Nielsen KG,
|
||
Haarman EG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Sep 11;22(18)
|
||
doi: 10.3390/ijms22189834.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34575997" target="_blank">34575997</a><a href="/pmc/articles/PMC8470068" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34261178">Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shoemark A,
|
||
Harman K</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2021 Aug;42(4):537-548.
|
||
Epub 2021 Jul 14
|
||
doi: 10.1055/s-0041-1730919.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34261178" target="_blank">34261178</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/25715965">Bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magis-Escurra C,
|
||
Reijers MH</span><br />
|
||
<span class="medgenPMjournal">BMJ Clin Evid</span>
|
||
2015 Feb 25;2015
|
||
<span class="bold">PMID: </span><a href="/pubmed/25715965" target="_blank">25715965</a><a href="/pmc/articles/PMC4356176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%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 (219)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35236553">Diagnosis of Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goutaki M,
|
||
Shoemark A</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2022 Mar;43(1):127-140.
|
||
doi: 10.1016/j.ccm.2021.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35236553" target="_blank">35236553</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35001665">Physiology and pathophysiology of human airway mucus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill DB,
|
||
Button B,
|
||
Rubinstein M,
|
||
Boucher RC</span><br />
|
||
<span class="medgenPMjournal">Physiol Rev</span>
|
||
2022 Oct 1;102(4):1757-1836.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1152/physrev.00004.2021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35001665" target="_blank">35001665</a><a href="/pmc/articles/PMC9665957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33118031">Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiao SY,
|
||
Yang YH,
|
||
Chen SR</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod Update</span>
|
||
2021 Jan 4;27(1):154-189.
|
||
doi: 10.1093/humupd/dmaa034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33118031" target="_blank">33118031</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/26826908">Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitzgerald DA,
|
||
Shapiro AJ</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2016 Mar;18:1-2.
|
||
Epub 2015 Dec 29
|
||
doi: 10.1016/j.prrv.2015.11.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26826908" target="_blank">26826908</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%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 (251)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35728977">Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shoemark A,
|
||
Griffin H,
|
||
Wheway G,
|
||
Hogg C,
|
||
Lucas JS;
|
||
Genomics England Research Consortium,
|
||
Camps C,
|
||
Taylor J,
|
||
Carroll M,
|
||
Loebinger MR,
|
||
Chalmers JD,
|
||
Morris-Rosendahl D,
|
||
Mitchison HM,
|
||
De Soyza A;
|
||
Genomics England Research Consortium:,
|
||
Brown D,
|
||
Ambrose JC,
|
||
Arumugam P,
|
||
Bevers R,
|
||
Bleda M,
|
||
Boardman-Pretty F,
|
||
Boustred CR,
|
||
Brittain H,
|
||
Caulfield MJ,
|
||
Chan GC,
|
||
Fowler T,
|
||
Giess A,
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Kayikci M,
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Kousathanas A,
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Lahnstein L,
|
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Leigh SEA,
|
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Leong IUS,
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Lopez FJ,
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Maleady-Crowe F,
|
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McEntagart M,
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Minneci F,
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Murugaesu N,
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O'Donovan P,
|
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Patch C,
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Perez-Gil D,
|
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|
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Pullinger J,
|
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Rahim T,
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Siddiq A,
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Sieghart A,
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Sosinsky A,
|
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Stuckey A,
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Taylor Tavares AL,
|
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Thomas ERA,
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Thompson SR,
|
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Tucci A,
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|
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Wood SM</span><br />
|
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<span class="medgenPMjournal">Eur Respir J</span>
|
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2022 Nov;60(5)
|
||
Epub 2022 Nov 17
|
||
doi: 10.1183/13993003.00176-2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35728977" target="_blank">35728977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35236553">Diagnosis of Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goutaki M,
|
||
Shoemark A</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2022 Mar;43(1):127-140.
|
||
doi: 10.1016/j.ccm.2021.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35236553" target="_blank">35236553</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/35001665">Physiology and pathophysiology of human airway mucus.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hill DB,
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Button B,
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Rubinstein M,
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Boucher RC</span><br />
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<span class="medgenPMjournal">Physiol Rev</span>
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2022 Oct 1;102(4):1757-1836.
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Epub 2022 Jan 10
|
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doi: 10.1152/physrev.00004.2021.
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<span class="bold">PMID: </span><a href="/pubmed/35001665" target="_blank">35001665</a><a href="/pmc/articles/PMC9665957" target="_blank" class="PubMedFree">Free PMC Article</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,
|
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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
|
||
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/33118031">Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiao SY,
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Yang YH,
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Chen SR</span><br />
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<span class="medgenPMjournal">Hum Reprod Update</span>
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2021 Jan 4;27(1):154-189.
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doi: 10.1093/humupd/dmaa034.
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<span class="bold">PMID: </span><a href="/pubmed/33118031" target="_blank">33118031</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%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 (405)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35854386">Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peng B,
|
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Gao YH,
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Xie JQ,
|
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He XW,
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Wang CC,
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Xu JF,
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Zhang GJ</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jul 19;17(1):283.
|
||
doi: 10.1186/s13023-022-02427-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35854386" target="_blank">35854386</a><a href="/pmc/articles/PMC9295413" target="_blank" class="PubMedFree">Free PMC Article</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/29905515">Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shapiro AJ,
|
||
Davis SD,
|
||
Polineni D,
|
||
Manion M,
|
||
Rosenfeld M,
|
||
Dell SD,
|
||
Chilvers MA,
|
||
Ferkol TW,
|
||
Zariwala MA,
|
||
Sagel SD,
|
||
Josephson M,
|
||
Morgan L,
|
||
Yilmaz O,
|
||
Olivier KN,
|
||
Milla C,
|
||
Pittman JE,
|
||
Daniels MLA,
|
||
Jones MH,
|
||
Janahi IA,
|
||
Ware SM,
|
||
Daniel SJ,
|
||
Cooper ML,
|
||
Nogee LM,
|
||
Anton B,
|
||
Eastvold T,
|
||
Ehrne L,
|
||
Guadagno E,
|
||
Knowles MR,
|
||
Leigh MW,
|
||
Lavergne V;
|
||
American Thoracic Society Assembly on Pediatrics</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2018 Jun 15;197(12):e24-e39.
|
||
doi: 10.1164/rccm.201805-0819ST.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29905515" target="_blank">29905515</a><a href="/pmc/articles/PMC6006411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27492829">Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goutaki M,
|
||
Meier AB,
|
||
Halbeisen FS,
|
||
Lucas JS,
|
||
Dell SD,
|
||
Maurer E,
|
||
Casaulta C,
|
||
Jurca M,
|
||
Spycher BD,
|
||
Kuehni CE</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2016 Oct;48(4):1081-1095.
|
||
Epub 2016 Aug 4
|
||
doi: 10.1183/13993003.00736-2016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27492829" target="_blank">27492829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25715965">Bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magis-Escurra C,
|
||
Reijers MH</span><br />
|
||
<span class="medgenPMjournal">BMJ Clin Evid</span>
|
||
2015 Feb 25;2015
|
||
<span class="bold">PMID: </span><a href="/pubmed/25715965" target="_blank">25715965</a><a href="/pmc/articles/PMC4356176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%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 (22)</a></div></div>
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|
||
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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 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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0008780%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (41)</a></li>
|
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<li><a href="/gtr/tests?term=C0008780%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008780%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008780%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (60)</a></li>
|
||
<li><a href="/gtr/tests?term=C0008780%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0008780%5bDISCUI%5d" target="_blank">See all (61)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS244400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=244" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Primary%20ciliary%20dyskinesia" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22primary%20ciliary%20dyskinesia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Primary%20ciliary%20dyskinesia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
<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=614864" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=54919[geneid]" target="_blank">View DNAAF5 variations in ClinVar</a></li></ul></div>
|
||
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|
||
|
||
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||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Primary+ciliary+dyskinesia/5941" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Primary%20ciliary%20dyskinesia" 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/4484/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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||
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||
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<h3>Reviews</h3>
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<li>
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<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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<a href="/pubmed/clinical?term=Primary%20ciliary%20dyskinesia" 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%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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<h3>Related information</h3>
|
||
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|
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=3467" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=3467" ref="log$=recordlinks">Gene</a>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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