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<meta name="keywords" content="C4551906, cild1, ciliary dyskinesia, primary, 1, ciliary dyskinesia, primary, 1, with or without situs inversus, ciliary dyskinesia, primary, type 1, dextrocardia bronchiectasis and sinusitis, dextrocardia, bronchiectasis, and sinusitis, dextrocardia-bronchiectasis-sinusitis syndrome, disease or syndrome, dnai1, dnai1 primary ciliary dyskinesia, immotile cilia syndrome, immotile cilia syndrome, kartagener type, kartagener syndrome, pcd, polynesian bronchiectasis, primary ciliary dyskinesia 1, primary ciliary dyskinesia 1 with or without situs inversus, primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia, primary ciliary dyskinesia caused by mutation in dnai1, primary ciliary dyskinesia type 1, 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 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).&#13; Genetic Heterogeneity of Primary Ciliary Dyskinesia&#13; 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.&#13; 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.&#13; 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)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=1646059
ConceptID=C4551906
-->
<!--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">Kartagener syndrome<span class="h1sub">(CILD1)</span></div></h1><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)&#10;Click for more information."><span class="highlight" style="background-color:">C4551906</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>CILD1; CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; Dextrocardia bronchiectasis and sinusitis; IMMOTILE CILIA SYNDROME; POLYNESIAN BRONCHIECTASIS; Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia; SIEWERT SYNDROME</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="DNAI1 - ID: 27019 - NCBI Gene" href="/gene/27019" class="medgenPMinfo">DNAI1</a> (9p13.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0009484" target="_blank">MONDO:0009484</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/244400" target="_blank">244400</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=98861">ORPHA98861</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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Primary ciliary dyskinesia 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).&#13; Genetic Heterogeneity of Primary Ciliary Dyskinesia&#13; 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.&#13; 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.&#13; 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). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />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 />Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.<br /><br />Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.<br /><br />Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.<br /><br />Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.<br /><br />Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.<br /><br />Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia">https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia</a></div></div>
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<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_5796"><div><strong>Male infertility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5796</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0021364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5796">Feature record</a> | <a href="/medgen?term=%22Male%20infertility%22%5BClinical%20Features%5D%20OR%205796%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1642262"><div><strong>Situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642262</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1642262">Feature record</a> | <a href="/medgen?term=%22Situs%20inversus%22%5BClinical%20Features%5D%20OR%201642262%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9163"><div><strong>Conductive hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9163</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018777</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9163">Feature record</a> | <a href="/medgen?term=%22Conductive%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%209163%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1950"><div><strong>Anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1950</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0003126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1950">Feature record</a> | <a href="/medgen?term=%22Anosmia%22%5BClinical%20Features%5D%20OR%201950%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1058"><div><strong>Communicating hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1058</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0009451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1058">Feature record</a> | <a href="/medgen?term=%22Communicating%20hydrocephalus%22%5BClinical%20Features%5D%20OR%201058%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_343405"><div><strong>Absent frontal sinuses</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343405</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855669</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Aplasia of frontal sinus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343405">Feature record</a> | <a href="/medgen?term=%22Absent%20frontal%20sinuses%22%5BClinical%20Features%5D%20OR%20343405%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_13946"><div><strong>Atelectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13946</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0004144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Collapse of part of a lung associated with absence of inflation (air) of that part.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/13946">Feature record</a> | <a href="/medgen?term=%22Atelectasis%22%5BClinical%20Features%5D%20OR%2013946%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3467"><div><strong>Primary ciliary dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3467</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0008780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3467">Feature record</a> | <a href="/medgen?term=%22Primary%20ciliary%20dyskinesia%22%5BClinical%20Features%5D%20OR%203467%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_148159"><div><strong>Recurrent bronchitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148159</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0741796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/148159">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bronchitis%22%5BClinical%20Features%5D%20OR%20148159%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_383738"><div><strong>Immotile cilia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383738">Feature record</a> | <a href="/medgen?term=%22Immotile%20cilia%22%5BClinical%20Features%5D%20OR%20383738%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868590"><div><strong>Absent outer dynein arms</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868590</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4022989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868590">Feature record</a> | <a href="/medgen?term=%22Absent%20outer%20dynein%20arms%22%5BClinical%20Features%5D%20OR%20868590%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10813"><div><strong>Pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10813</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0032285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Inflammation of any part of the lung parenchyma.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10813">Feature record</a> | <a href="/medgen?term=%22Pneumonia%22%5BClinical%20Features%5D%20OR%2010813%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_101751"><div><strong>Chronic sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101751</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0149516</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A chronic form of sinusitis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/101751">Feature record</a> | <a href="/medgen?term=%22Chronic%20sinusitis%22%5BClinical%20Features%5D%20OR%20101751%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75751"><div><strong>Chronic otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75751</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0271441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75751">Feature record</a> | <a href="/medgen?term=%22Chronic%20otitis%20media%22%5BClinical%20Features%5D%20OR%2075751%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1830315"><div><strong>Asplenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830315</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5779621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Absence (aplasia) of the spleen.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1830315">Feature record</a> | <a href="/medgen?term=%22Asplenia%22%5BClinical%20Features%5D%20OR%201830315%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3086"><div><strong>Chronic rhinitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3086</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0008711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chronic inflammation of the nasal mucosa.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3086">Feature record</a> | <a href="/medgen?term=%22Chronic%20rhinitis%22%5BClinical%20Features%5D%20OR%203086%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6524"><div><strong>Nasal polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6524</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027430</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6524">Feature record</a> | <a href="/medgen?term=%22Nasal%20polyposis%22%5BClinical%20Features%5D%20OR%206524%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_383737"><div><strong>Abnormal cornea morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383737</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383737">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cornea%20morphology%22%5BClinical%20Features%5D%20OR%20383737%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic rhinitis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasal polyposis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Situs inversus</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cornea morphology</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Male infertility</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asplenia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic otitis media</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic sinusitis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pneumonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343405" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent frontal sinuses</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anosmia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Communicating hydrocephalus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent outer dynein arms</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13946" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelectasis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchiectasis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immotile cilia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bronchitis</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conductive hearing impairment</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008780[DISCUI]&amp;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]&amp;test_type=Research&amp;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&amp;from_uid=3467" ref="ncbi_uid=3467">V</a></span></span><span class="TLline"><a href="/medgen/3467" ref="tree=GTR&amp;ncbi_uid=3467&amp;link_uid=3467" title="View MedGen record for 'Primary ciliary dyskinesia'">Primary ciliary dyskinesia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4478372[DISCUI]&amp;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&amp;from_uid=1393107" ref="ncbi_uid=1393107">V</a></span></span><span class="TLline"><a href="/medgen/1393107" ref="tree=GTR&amp;ncbi_uid=1393107&amp;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]&amp;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&amp;from_uid=1615746" ref="ncbi_uid=1615746">V</a></span></span><span class="TLline"><a href="/medgen/1615746" ref="tree=GTR&amp;ncbi_uid=1615746&amp;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]&amp;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&amp;from_uid=1648465" ref="ncbi_uid=1648465">V</a></span></span><span class="TLline"><a href="/medgen/1648465" ref="tree=GTR&amp;ncbi_uid=1648465&amp;link_uid=1648465" title="View MedGen record for 'Ciliary dyskinesia, primary, 38'">Ciliary dyskinesia, primary, 38</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551906[DISCUI]&amp;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&amp;from_uid=1646059" ref="ncbi_uid=1646059">V</a></span></span><span class="TLline">Kartagener syndrome</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847554[DISCUI]&amp;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&amp;from_uid=338258" ref="ncbi_uid=338258">V</a></span></span><span class="TLline"><a href="/medgen/338258" ref="tree=GTR&amp;ncbi_uid=338258&amp;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]&amp;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&amp;from_uid=325210" ref="ncbi_uid=325210">V</a></span></span><span class="TLline"><a href="/medgen/325210" ref="tree=GTR&amp;ncbi_uid=325210&amp;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]&amp;test_type=Clinical&amp;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&amp;ncbi_uid=324841&amp;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]&amp;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&amp;from_uid=324840" ref="ncbi_uid=324840">V</a></span></span><span class="TLline"><a href="/medgen/324840" ref="tree=GTR&amp;ncbi_uid=324840&amp;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]&amp;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&amp;from_uid=370930" ref="ncbi_uid=370930">V</a></span></span><span class="TLline"><a href="/medgen/370930" ref="tree=GTR&amp;ncbi_uid=370930&amp;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]&amp;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&amp;from_uid=394834" ref="ncbi_uid=394834">V</a></span></span><span class="TLline"><a href="/medgen/394834" ref="tree=GTR&amp;ncbi_uid=394834&amp;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]&amp;test_type=Clinical&amp;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&amp;ncbi_uid=393653&amp;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]&amp;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&amp;from_uid=390990" ref="ncbi_uid=390990">V</a></span></span><span class="TLline"><a href="/medgen/390990" ref="tree=GTR&amp;ncbi_uid=390990&amp;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]&amp;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&amp;from_uid=382707" ref="ncbi_uid=382707">V</a></span></span><span class="TLline"><a href="/medgen/382707" ref="tree=GTR&amp;ncbi_uid=382707&amp;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]&amp;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&amp;from_uid=390741" ref="ncbi_uid=390741">V</a></span></span><span class="TLline"><a href="/medgen/390741" ref="tree=GTR&amp;ncbi_uid=390741&amp;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]&amp;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&amp;from_uid=436379" ref="ncbi_uid=436379">V</a></span></span><span class="TLline"><a href="/medgen/436379" ref="tree=GTR&amp;ncbi_uid=436379&amp;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]&amp;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&amp;from_uid=413399" ref="ncbi_uid=413399">V</a></span></span><span class="TLline"><a href="/medgen/413399" ref="tree=GTR&amp;ncbi_uid=413399&amp;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]&amp;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&amp;from_uid=462486" ref="ncbi_uid=462486">V</a></span></span><span class="TLline"><a href="/medgen/462486" ref="tree=GTR&amp;ncbi_uid=462486&amp;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]&amp;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&amp;from_uid=462487" ref="ncbi_uid=462487">V</a></span></span><span class="TLline"><a href="/medgen/462487" ref="tree=GTR&amp;ncbi_uid=462487&amp;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]&amp;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&amp;from_uid=462810" ref="ncbi_uid=462810">V</a></span></span><span class="TLline"><a href="/medgen/462810" ref="tree=GTR&amp;ncbi_uid=462810&amp;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]&amp;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&amp;from_uid=762261" ref="ncbi_uid=762261">V</a></span></span><span class="TLline"><a href="/medgen/762261" ref="tree=GTR&amp;ncbi_uid=762261&amp;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]&amp;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&amp;from_uid=762331" ref="ncbi_uid=762331">V</a></span></span><span class="TLline"><a href="/medgen/762331" ref="tree=GTR&amp;ncbi_uid=762331&amp;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]&amp;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&amp;from_uid=762332" ref="ncbi_uid=762332">V</a></span></span><span class="TLline"><a href="/medgen/762332" ref="tree=GTR&amp;ncbi_uid=762332&amp;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]&amp;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&amp;from_uid=761920" ref="ncbi_uid=761920">V</a></span></span><span class="TLline"><a href="/medgen/761920" ref="tree=GTR&amp;ncbi_uid=761920&amp;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]&amp;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&amp;from_uid=815417" ref="ncbi_uid=815417">V</a></span></span><span class="TLline"><a href="/medgen/815417" ref="tree=GTR&amp;ncbi_uid=815417&amp;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]&amp;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&amp;from_uid=815873" ref="ncbi_uid=815873">V</a></span></span><span class="TLline"><a href="/medgen/815873" ref="tree=GTR&amp;ncbi_uid=815873&amp;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]&amp;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&amp;from_uid=815878" ref="ncbi_uid=815878">V</a></span></span><span class="TLline"><a href="/medgen/815878" ref="tree=GTR&amp;ncbi_uid=815878&amp;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]&amp;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&amp;from_uid=815964" ref="ncbi_uid=815964">V</a></span></span><span class="TLline"><a href="/medgen/815964" ref="tree=GTR&amp;ncbi_uid=815964&amp;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]&amp;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&amp;from_uid=815971" ref="ncbi_uid=815971">V</a></span></span><span class="TLline"><a href="/medgen/815971" ref="tree=GTR&amp;ncbi_uid=815971&amp;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]&amp;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&amp;from_uid=816014" ref="ncbi_uid=816014">V</a></span></span><span class="TLline"><a href="/medgen/816014" ref="tree=GTR&amp;ncbi_uid=816014&amp;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]&amp;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&amp;from_uid=816031" ref="ncbi_uid=816031">V</a></span></span><span class="TLline"><a href="/medgen/816031" ref="tree=GTR&amp;ncbi_uid=816031&amp;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]&amp;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&amp;from_uid=816036" ref="ncbi_uid=816036">V</a></span></span><span class="TLline"><a href="/medgen/816036" ref="tree=GTR&amp;ncbi_uid=816036&amp;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]&amp;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&amp;from_uid=862971" ref="ncbi_uid=862971">V</a></span></span><span class="TLline"><a href="/medgen/862971" ref="tree=GTR&amp;ncbi_uid=862971&amp;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]&amp;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&amp;from_uid=863453" ref="ncbi_uid=863453">V</a></span></span><span class="TLline"><a href="/medgen/863453" ref="tree=GTR&amp;ncbi_uid=863453&amp;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]&amp;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&amp;from_uid=896106" ref="ncbi_uid=896106">V</a></span></span><span class="TLline"><a href="/medgen/896106" ref="tree=GTR&amp;ncbi_uid=896106&amp;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]&amp;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&amp;from_uid=898734" ref="ncbi_uid=898734">V</a></span></span><span class="TLline"><a href="/medgen/898734" ref="tree=GTR&amp;ncbi_uid=898734&amp;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]&amp;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&amp;from_uid=934689" ref="ncbi_uid=934689">V</a></span></span><span class="TLline"><a href="/medgen/934689" ref="tree=GTR&amp;ncbi_uid=934689&amp;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]&amp;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&amp;from_uid=934688" ref="ncbi_uid=934688">V</a></span></span><span class="TLline"><a href="/medgen/934688" ref="tree=GTR&amp;ncbi_uid=934688&amp;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]&amp;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&amp;from_uid=340938" ref="ncbi_uid=340938">V</a></span></span><span class="TLline"><a href="/medgen/340938" ref="tree=GTR&amp;ncbi_uid=340938&amp;link_uid=340938" title="View MedGen record for 'Stromme syndrome'">Stromme syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868585" ref="tree=MeSH" title="MedGen record for Abnormal respiratory motile cilium physiology">Abnormal respiratory motile cilium physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868584" ref="tree=MeSH" title="MedGen record for Abnormal ciliary motility">Abnormal ciliary motility</a></span><ul><li><span class="TLline"><a href="/medgen/3467" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></span><ul><li><span class="matched_ds">Kartagener syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/30433820">Summary for Clinicians: Diagnosis of Primary Ciliary Dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connor MG,
Griffiths A,
Iyer NP,
Shapiro AJ,
Wilson KC,
Thomson CC</span><br />
<span class="medgenPMjournal">Ann Am Thorac Soc</span>
2019 Feb;16(2):171-174.
doi: 10.1513/AnnalsATS.201810-693CME.
<span class="bold">PMID: </span><a href="/pubmed/30433820" target="_blank">30433820</a><a href="/pmc/articles/PMC7336768" 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/24771309">Diagnosis and management of primary ciliary dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
Burgess A,
Mitchison HM,
Moya E,
Williamson M,
Hogg C;
National PCD Service, UK</span><br />
<span class="medgenPMjournal">Arch Dis Child</span>
2014 Sep;99(9):850-6.
Epub 2014 Apr 25
doi: 10.1136/archdischild-2013-304831.
<span class="bold">PMID: </span><a href="/pubmed/24771309" target="_blank">24771309</a><a href="/pmc/articles/PMC4145427" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22kartagener%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (12)</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/39004944">Genetics of 67 patients of suspected primary ciliary dyskinesia from India.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jat KR,
Faruq M,
Jindal S,
Bari S,
Soni A,
Sharma P,
Mathews S,
Shamim U,
Ahuja V,
Uppilli B,
Yadav SC,
Lodha R,
Arava SK,
Kabra SK</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2024 Nov;106(5):650-658.
Epub 2024 Jul 14
doi: 10.1111/cge.14590.
<span class="bold">PMID: </span><a href="/pubmed/39004944" target="_blank">39004944</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/33771583">Limitations and opportunities in the pharmacotherapy of ciliopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Duong Phu M,
Bross S,
Burkhalter MD,
Philipp M</span><br />
<span class="medgenPMjournal">Pharmacol Ther</span>
2021 Sep;225:107841.
Epub 2021 Mar 23
doi: 10.1016/j.pharmthera.2021.107841.
<span class="bold">PMID: </span><a href="/pubmed/33771583" target="_blank">33771583</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/27296824">Diagnostic challenges of bronchiectasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suarez-Cuartin G,
Chalmers JD,
Sibila O</span><br />
<span class="medgenPMjournal">Respir Med</span>
2016 Jul;116:70-7.
Epub 2016 May 17
doi: 10.1016/j.rmed.2016.05.014.
<span class="bold">PMID: </span><a href="/pubmed/27296824" target="_blank">27296824</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kartagener%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (263)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39069333">Respiratory Aspects of Primary Ciliary Dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Jesús-Rojas W,
Shapiro AJ,
Shoemark A</span><br />
<span class="medgenPMjournal">Clin Chest Med</span>
2024 Sep;45(3):717-728.
Epub 2024 Mar 28
doi: 10.1016/j.ccm.2024.02.020.
<span class="bold">PMID: </span><a href="/pubmed/39069333" target="_blank">39069333</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/28687245">Movement.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferkol T</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2017 Sep;24:19-20.
Epub 2017 Jun 12
doi: 10.1016/j.prrv.2017.06.005.
<span class="bold">PMID: </span><a href="/pubmed/28687245" target="_blank">28687245</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27514592">Primary Ciliary Dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knowles MR,
Zariwala M,
Leigh M</span><br />
<span class="medgenPMjournal">Clin Chest Med</span>
2016 Sep;37(3):449-61.
Epub 2016 Jun 30
doi: 10.1016/j.ccm.2016.04.008.
<span class="bold">PMID: </span><a href="/pubmed/27514592" target="_blank">27514592</a><a href="/pmc/articles/PMC4988337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20562592">Kartagener syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang PC,
Tiao WM,
Tseng GY</span><br />
<span class="medgenPMjournal">Am J Med Sci</span>
2011 Mar;341(3):232.
doi: 10.1097/MAJ.0b013e3181d9b402.
<span class="bold">PMID: </span><a href="/pubmed/20562592" target="_blank">20562592</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kartagener%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (552)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37796006">Airway microbiota correlated with pulmonary exacerbation in primary ciliary dyskinesia patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
Guo Z,
Chen J,
Chen Y,
He C,
Lu A,
Qian L</span><br />
<span class="medgenPMjournal">Microbiol Spectr</span>
2023 Dec 12;11(6):e0221323.
Epub 2023 Oct 5
doi: 10.1128/spectrum.02213-23.
<span class="bold">PMID: </span><a href="/pubmed/37796006" target="_blank">37796006</a><a href="/pmc/articles/PMC10715216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27836958">European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
Barbato A,
Collins SA,
Goutaki M,
Behan L,
Caudri D,
Dell S,
Eber E,
Escudier E,
Hirst RA,
Hogg C,
Jorissen M,
Latzin P,
Legendre M,
Leigh MW,
Midulla F,
Nielsen KG,
Omran H,
Papon JF,
Pohunek P,
Redfern B,
Rigau D,
Rindlisbacher B,
Santamaria F,
Shoemark A,
Snijders D,
Tonia T,
Titieni A,
Walker WT,
Werner C,
Bush A,
Kuehni CE</span><br />
<span class="medgenPMjournal">Eur Respir J</span>
2017 Jan;49(1)
Epub 2017 Jan 4
doi: 10.1183/13993003.01090-2016.
<span class="bold">PMID: </span><a href="/pubmed/27836958" target="_blank">27836958</a><a href="/pmc/articles/PMC6054534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27514592">Primary Ciliary Dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Knowles MR,
Zariwala M,
Leigh M</span><br />
<span class="medgenPMjournal">Clin Chest Med</span>
2016 Sep;37(3):449-61.
Epub 2016 Jun 30
doi: 10.1016/j.ccm.2016.04.008.
<span class="bold">PMID: </span><a href="/pubmed/27514592" target="_blank">27514592</a><a href="/pmc/articles/PMC4988337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25826585">Primary ciliary dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lobo J,
Zariwala MA,
Noone PG</span><br />
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
2015 Apr;36(2):169-79.
Epub 2015 Mar 31
doi: 10.1055/s-0035-1546748.
<span class="bold">PMID: </span><a href="/pubmed/25826585" target="_blank">25826585</a><a href="/pmc/articles/PMC4873960" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24652656">Primary ciliary dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lobo LJ,
Zariwala MA,
Noone PG</span><br />
<span class="medgenPMjournal">QJM</span>
2014 Sep;107(9):691-9.
Epub 2014 Mar 19
doi: 10.1093/qjmed/hcu063.
<span class="bold">PMID: </span><a href="/pubmed/24652656" target="_blank">24652656</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kartagener%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (159)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37796006">Airway microbiota correlated with pulmonary exacerbation in primary ciliary dyskinesia patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
Guo Z,
Chen J,
Chen Y,
He C,
Lu A,
Qian L</span><br />
<span class="medgenPMjournal">Microbiol Spectr</span>
2023 Dec 12;11(6):e0221323.
Epub 2023 Oct 5
doi: 10.1128/spectrum.02213-23.
<span class="bold">PMID: </span><a href="/pubmed/37796006" target="_blank">37796006</a><a href="/pmc/articles/PMC10715216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28877972">Clinical care for primary ciliary dyskinesia: current challenges and future directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rubbo B,
Lucas JS</span><br />
<span class="medgenPMjournal">Eur Respir Rev</span>
2017 Sep 30;26(145)
Epub 2017 Sep 6
doi: 10.1183/16000617.0023-2017.
<span class="bold">PMID: </span><a href="/pubmed/28877972" target="_blank">28877972</a><a href="/pmc/articles/PMC9489029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27296824">Diagnostic challenges of bronchiectasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suarez-Cuartin G,
Chalmers JD,
Sibila O</span><br />
<span class="medgenPMjournal">Respir Med</span>
2016 Jul;116:70-7.
Epub 2016 May 17
doi: 10.1016/j.rmed.2016.05.014.
<span class="bold">PMID: </span><a href="/pubmed/27296824" target="_blank">27296824</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26898410">The impact of Primary Ciliary Dyskinesia on the upper respiratory tract.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morgan LC,
Birman CS</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2016 Mar;18:33-8.
Epub 2015 Oct 23
doi: 10.1016/j.prrv.2015.09.006.
<span class="bold">PMID: </span><a href="/pubmed/26898410" target="_blank">26898410</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25826585">Primary ciliary dyskinesia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lobo J,
Zariwala MA,
Noone PG</span><br />
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
2015 Apr;36(2):169-79.
Epub 2015 Mar 31
doi: 10.1055/s-0035-1546748.
<span class="bold">PMID: </span><a href="/pubmed/25826585" target="_blank">25826585</a><a href="/pmc/articles/PMC4873960" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kartagener%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (159)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37105206">Bronchiectasis in Europe: data on disease characteristics from the European Bronchiectasis registry (EMBARC).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chalmers JD,
Polverino E,
Crichton ML,
Ringshausen FC,
De Soyza A,
Vendrell M,
Burgel PR,
Haworth CS,
Loebinger MR,
Dimakou K,
Murris M,
Wilson R,
Hill AT,
Menendez R,
Torres A,
Welte T,
Blasi F,
Altenburg J,
Shteinberg M,
Boersma W,
Elborn JS,
Goeminne PC,
Aliberti S;
EMBARC Registry Investigators</span><br />
<span class="medgenPMjournal">Lancet Respir Med</span>
2023 Jul;11(7):637-649.
Epub 2023 Apr 24
doi: 10.1016/S2213-2600(23)00093-0.
<span class="bold">PMID: </span><a href="/pubmed/37105206" target="_blank">37105206</a></div>
<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,
Hamblin A,
Henderson S,
Hubbard TJP,
Jackson R,
Jones LJ,
Kasperaviciute D,
Kayikci M,
Kousathanas A,
Lahnstein L,
Leigh SEA,
Leong IUS,
Lopez FJ,
Maleady-Crowe F,
McEntagart M,
Minneci F,
Moutsianas L,
Mueller M,
Murugaesu N,
Need AC,
O'Donovan P,
Odhams CA,
Patch C,
Perez-Gil D,
Pereira MB,
Pullinger J,
Rahim T,
Rendon A,
Rogers T,
Savage K,
Sawant K,
Scott RH,
Siddiq A,
Sieghart A,
Smith SC,
Sosinsky A,
Stuckey A,
Tanguy M,
Taylor Tavares AL,
Thomas ERA,
Thompson SR,
Tucci A,
Welland MJ,
Williams E,
Witkowska K,
Wood SM</span><br />
<span class="medgenPMjournal">Eur Respir J</span>
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/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/28877972">Clinical care for primary ciliary dyskinesia: current challenges and future directions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rubbo B,
Lucas JS</span><br />
<span class="medgenPMjournal">Eur Respir Rev</span>
2017 Sep 30;26(145)
Epub 2017 Sep 6
doi: 10.1183/16000617.0023-2017.
<span class="bold">PMID: </span><a href="/pubmed/28877972" target="_blank">28877972</a><a href="/pmc/articles/PMC9489029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23764568">Overcoming challenges in the management of primary ciliary dyskinesia: the UK model.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lucas JS,
Chetcuti P,
Copeland F,
Hogg C,
Kenny T,
Moya E,
O'Callaghan C,
Walker WT</span><br />
<span class="medgenPMjournal">Paediatr Respir Rev</span>
2014 Jun;15(2):142-5.
Epub 2013 Jun 12
doi: 10.1016/j.prrv.2013.04.007.
<span class="bold">PMID: </span><a href="/pubmed/23764568" target="_blank">23764568</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kartagener%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (232)</a></div></div>
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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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/37801236">Bariatric and Metabolic Surgery in Patients with Situs Inversus: a Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sakran N,
Stier C,
Parmar C,
Pouwels S</span><br />
<span class="medgenPMjournal">Obes Surg</span>
2023 Nov;33(11):3628-3635.
Epub 2023 Oct 6
doi: 10.1007/s11695-023-06847-1.
<span class="bold">PMID: </span><a href="/pubmed/37801236" target="_blank">37801236</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36849313">Anesthetic Management of Patients With Kartagener Syndrome: A Systematic Review of 99 Cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng L,
Dong Y,
Liu S</span><br />
<span class="medgenPMjournal">J Cardiothorac Vasc Anesth</span>
2023 Jun;37(6):1021-1025.
Epub 2023 Feb 3
doi: 10.1053/j.jvca.2023.01.033.
<span class="bold">PMID: </span><a href="/pubmed/36849313" target="_blank">36849313</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36805741">Acute appendicitis and situs viscerum inversus: radiological and surgical approach-a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Di Buono G,
Buscemi S,
Galia M,
Maienza E,
Amato G,
Bonventre G,
Vella R,
Saverino M,
Grassedonio E,
Romano G,
Agrusa A</span><br />
<span class="medgenPMjournal">Eur J Med Res</span>
2023 Feb 20;28(1):85.
doi: 10.1186/s40001-023-01059-w.
<span class="bold">PMID: </span><a href="/pubmed/36805741" target="_blank">36805741</a><a href="/pmc/articles/PMC9940389" 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/27935903">Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kouis P,
Yiallouros PK,
Middleton N,
Evans JS,
Kyriacou K,
Papatheodorou SI</span><br />
<span class="medgenPMjournal">Pediatr Res</span>
2017 Mar;81(3):398-405.
Epub 2016 Dec 9
doi: 10.1038/pr.2016.263.
<span class="bold">PMID: </span><a href="/pubmed/27935903" target="_blank">27935903</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kartagener%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div></div>
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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="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551906%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (58)</a></li>
<li><a href="/gtr/tests?term=C4551906%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
<li><a href="/gtr/tests?term=C4551906%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (10)</a></li>
<li><a href="/gtr/tests?term=C4551906%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (83)</a></li>
<li><a href="/gtr/tests?term=C4551906%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551906%5bDISCUI%5d" target="_blank">See all (87)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=244400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98861" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Kartagener%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22kartagener%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=604366" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=27019[geneid]" target="_blank">View DNAI1 variations in ClinVar</a></li><li><a href="/nuccore/193211431" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=244400" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Kartagener+syndrome/3958" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/ciliary_dyskinesia_primary_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Kartagener%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Kartagener%20syndrome" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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