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<meta name="keywords" content="C0403553, disease or syndrome, juvenile nephronophthisis with leber amaurosis, loken senior syndrome, loken-senior syndrome, nephronophthisis with retinal dystrophy, renal dysplasia and retinal aplasia, renal dysplasia retinal aplasia, renal dysplasia-retinal aplasia syndrome, renal-retinal syndrome, senior loken syndrome, senior-loken syndrome, senior-løken syndrome, slsn, 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="Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. Genetic Heterogeneity of Senior-Loken Syndrome Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37. Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=96045
|
||
ConceptID=C0403553
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Renal dysplasia and retinal aplasia<span class="h1sub">(SLSN)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96045</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0403553</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>Renal dysplasia retinal aplasia; Senior-Loken syndrome; SLSN</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Renal dysplasia and retinal aplasia (236531005); Loken Senior syndrome (236531005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/261734">NPHP4</a>, <a target="_blank" href="/gene/80184">CEP290</a>, <a target="_blank" href="/gene/57728">WDR19</a>, <a target="_blank" href="/gene/26146">TRAF3IP1</a>, <a target="_blank" href="/gene/10806">SDCCAG8</a>, <a target="_blank" href="/gene/9657">IQCB1</a>, <a target="_blank" href="/gene/4867">NPHP1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017842" target="_blank">MONDO:0017842</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/266900" target="_blank">266900</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS266900" target="_blank">PS266900</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3156">ORPHA3156</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. Genetic Heterogeneity of Senior-Loken Syndrome Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37. Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0403553[DISCUI]&test_type=Clinical" ref="ncbi_uid=96045">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0403553[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=96045">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=96045" target="_blank" href="/omim/266900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=96045" ref="ncbi_uid=96045">V</a></span></span><span class="TLline">Renal dysplasia and retinal aplasia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551559[DISCUI]&test_type=Clinical" ref="ncbi_uid=1639722">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1639722" target="_blank" href="/omim/266900">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1639722" ref="ncbi_uid=1639722">V</a></span></span><span class="TLline"><a href="/medgen/1639722" ref="tree=GTR&ncbi_uid=1639722&link_uid=1639722" title="View MedGen record for 'Senior-Loken syndrome 1'">Senior-Loken syndrome 1</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=C1846980[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=335569">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335569" target="_blank" href="/omim/606995">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335569" ref="ncbi_uid=335569">V</a></span></span><span class="TLline"><a href="/medgen/335569" ref="tree=GTR&ncbi_uid=335569&link_uid=335569" title="View MedGen record for 'Senior-loken syndrome 3'">Senior-loken syndrome 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=C1846979[DISCUI]&test_type=Clinical" ref="ncbi_uid=337697">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337697" target="_blank" href="/omim/606996">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337697" ref="ncbi_uid=337697">V</a></span></span><span class="TLline"><a href="/medgen/337697" ref="tree=GTR&ncbi_uid=337697&link_uid=337697" title="View MedGen record for 'Senior-Loken syndrome 4'">Senior-Loken syndrome 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=C1836517[DISCUI]&test_type=Clinical" ref="ncbi_uid=332226">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332226" target="_blank" href="/omim/609237">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332226" ref="ncbi_uid=332226">V</a></span></span><span class="TLline"><a href="/medgen/332226" ref="tree=GTR&ncbi_uid=332226&link_uid=332226" title="View MedGen record for 'Senior-Loken syndrome 5'">Senior-Loken syndrome 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=C1857779[DISCUI]&test_type=Clinical" ref="ncbi_uid=387907">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387907" target="_blank" href="/omim/610142">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=387907" ref="ncbi_uid=387907">V</a></span></span><span class="TLline"><a href="/medgen/387907" ref="tree=GTR&ncbi_uid=387907&link_uid=387907" title="View MedGen record for 'Senior-Loken syndrome 6'">Senior-Loken syndrome 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=C3150877[DISCUI]&test_type=Clinical" ref="ncbi_uid=462227">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462227" target="_blank" href="/omim/613524">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462227" ref="ncbi_uid=462227">V</a></span></span><span class="TLline"><a href="/medgen/462227" ref="tree=GTR&ncbi_uid=462227&link_uid=462227" title="View MedGen record for 'Senior-Loken syndrome 7'">Senior-Loken syndrome 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=C4225376[DISCUI]&test_type=Clinical" ref="ncbi_uid=905171">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=905171" target="_blank" href="/omim/608151">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=905171" ref="ncbi_uid=905171">V</a></span></span><span class="TLline"><a href="/medgen/905171" ref="tree=GTR&ncbi_uid=905171&link_uid=905171" title="View MedGen record for 'Senior-Loken syndrome 8'">Senior-Loken syndrome 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=C4225263[DISCUI]&test_type=Clinical" ref="ncbi_uid=899086">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=899086" target="_blank" href="/omim/607380">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=899086" ref="ncbi_uid=899086">V</a></span></span><span class="TLline"><a href="/medgen/899086" ref="tree=GTR&ncbi_uid=899086&link_uid=899086" title="View MedGen record for 'Senior-Loken syndrome 9'">Senior-Loken syndrome 9</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/1842297" ref="tree=MeSH" title="MedGen record for Familial cystic renal disease">Familial cystic renal disease</a></span><ul><li><span class="matched_ds">Renal dysplasia and retinal aplasia</span><ul><li><span class="TLline"><a href="/medgen/1639722" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 1">Senior-Loken syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/335569" ref="tree=MeSH" title="MedGen record for Senior-loken syndrome 3">Senior-loken syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/337697" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 4">Senior-Loken syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/332226" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 5">Senior-Loken syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/387907" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 6">Senior-Loken syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/462227" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 7">Senior-Loken syndrome 7</a></span></li><li><span class="TLline"><a href="/medgen/905171" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 8">Senior-Loken syndrome 8</a></span></li><li><span class="TLline"><a href="/medgen/899086" ref="tree=MeSH" title="MedGen record for Senior-Loken syndrome 9">Senior-Loken syndrome 9</a></span></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/37296294">A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leggatt G,
|
||
Cheng G,
|
||
Narain S,
|
||
Briseño-Roa L,
|
||
Annereau JP;
|
||
Genomics England Research Consortium,
|
||
Gast C,
|
||
Gilbert RD,
|
||
Ennis S</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Jun 9;13(1):9369.
|
||
doi: 10.1038/s41598-023-32169-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37296294" target="_blank">37296294</a><a href="/pmc/articles/PMC10256716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17389183">Meckel syndrome: genetics, perinatal findings, and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2007 Mar;46(1):9-14.
|
||
doi: 10.1016/S1028-4559(08)60100-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17389183" target="_blank">17389183</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8892367">Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casteels I,
|
||
Spileers W,
|
||
Demaerel P,
|
||
Casaer P,
|
||
De Cock P,
|
||
Dralands L,
|
||
Missotten L</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Aug;27(4):189-93.
|
||
doi: 10.1055/s-2007-973785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8892367" target="_blank">8892367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(renal%20dysplasia%20and%20retinal%20aplasia)%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 (4)</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/33039432">Ciliopathies and the Kidney: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McConnachie DJ,
|
||
Stow JL,
|
||
Mallett AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Mar;77(3):410-419.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1053/j.ajkd.2020.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33039432" target="_blank">33039432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20690115">CEP290, a gene with many faces: mutation overview and presentation of CEP290base.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppieters F,
|
||
Lefever S,
|
||
Leroy BP,
|
||
De Baere E</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2010 Oct;31(10):1097-108.
|
||
doi: 10.1002/humu.21337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20690115" target="_blank">20690115</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19764032">Expanding CEP290 mutational spectrum in ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Travaglini L,
|
||
Brancati F,
|
||
Attie-Bitach T,
|
||
Audollent S,
|
||
Bertini E,
|
||
Kaplan J,
|
||
Perrault I,
|
||
Iannicelli M,
|
||
Mancuso B,
|
||
Rigoli L,
|
||
Rozet JM,
|
||
Swistun D,
|
||
Tolentino J,
|
||
Dallapiccola B,
|
||
Gleeson JG,
|
||
Valente EM;
|
||
International JSRD Study Group,
|
||
Zankl A,
|
||
Leventer R,
|
||
Grattan-Smith P,
|
||
Janecke A,
|
||
D'Hooghe M,
|
||
Sznajer Y,
|
||
Van Coster R,
|
||
Demerleir L,
|
||
Dias K,
|
||
Moco C,
|
||
Moreira A,
|
||
Kim CA,
|
||
Maegawa G,
|
||
Petkovic D,
|
||
Abdel-Salam GM,
|
||
Abdel-Aleem A,
|
||
Zaki MS,
|
||
Marti I,
|
||
Quijano-Roy S,
|
||
Sigaudy S,
|
||
de Lonlay P,
|
||
Romano S,
|
||
Touraine R,
|
||
Koenig M,
|
||
Lagier-Tourenne C,
|
||
Messer J,
|
||
Collignon P,
|
||
Wolf N,
|
||
Philippi H,
|
||
Kitsiou Tzeli S,
|
||
Halldorsson S,
|
||
Johannsdottir J,
|
||
Ludvigsson P,
|
||
Phadke SR,
|
||
Udani V,
|
||
Stuart B,
|
||
Magee A,
|
||
Lev D,
|
||
Michelson M,
|
||
Ben-Zeev B,
|
||
Fischetto R,
|
||
Benedicenti F,
|
||
Stanzial F,
|
||
Borgatti R,
|
||
Accorsi P,
|
||
Battaglia S,
|
||
Fazzi E,
|
||
Giordano L,
|
||
Pinelli L,
|
||
Boccone L,
|
||
Bigoni S,
|
||
Ferlini A,
|
||
Donati MA,
|
||
Caridi G,
|
||
Divizia MT,
|
||
Faravelli F,
|
||
Ghiggeri G,
|
||
Pessagno A,
|
||
Briguglio M,
|
||
Briuglia S,
|
||
Salpietro CD,
|
||
Tortorella G,
|
||
Adami A,
|
||
Castorina P,
|
||
Lalatta F,
|
||
Marra G,
|
||
Riva D,
|
||
Scelsa B,
|
||
Spaccini L,
|
||
Uziel G,
|
||
Del Giudice E,
|
||
Laverda AM,
|
||
Ludwig K,
|
||
Permunian A,
|
||
Suppiej A,
|
||
Signorini S,
|
||
Uggetti C,
|
||
Battini R,
|
||
Di Giacomo M,
|
||
Cilio MR,
|
||
Di Sabato ML,
|
||
Leuzzi V,
|
||
Parisi P,
|
||
Pollazzon M,
|
||
Silengo M,
|
||
De Vescovi R,
|
||
Greco D,
|
||
Romano C,
|
||
Cazzagon M,
|
||
Simonati A,
|
||
Al-Tawari AA,
|
||
Bastaki L,
|
||
Mégarbané A,
|
||
Sabolic Avramovska V,
|
||
de Jong MM,
|
||
Stromme P,
|
||
Koul R,
|
||
Rajab A,
|
||
Azam M,
|
||
Barbot C,
|
||
Martorell Sampol L,
|
||
Rodriguez B,
|
||
Pascual-Castroviejo I,
|
||
Teber S,
|
||
Anlar B,
|
||
Comu S,
|
||
Karaca E,
|
||
Kayserili H,
|
||
Yüksel A,
|
||
Akcakus M,
|
||
Al Gazali L,
|
||
Sztriha L,
|
||
Nicholl D,
|
||
Woods CG,
|
||
Bennett C,
|
||
Hurst J,
|
||
Sheridan E,
|
||
Barnicoat A,
|
||
Hennekam R,
|
||
Lees M,
|
||
Blair E,
|
||
Bernes S,
|
||
Sanchez H,
|
||
Clark AE,
|
||
DeMarco E,
|
||
Donahue C,
|
||
Sherr E,
|
||
Hahn J,
|
||
Sanger TD,
|
||
Gallager TE,
|
||
Dobyns WB,
|
||
Daugherty C,
|
||
Krishnamoorthy KS,
|
||
Sarco D,
|
||
Walsh CA,
|
||
McKanna T,
|
||
Milisa J,
|
||
Chung WK,
|
||
De Vivo DC,
|
||
Raynes H,
|
||
Schubert R,
|
||
Seward A,
|
||
Brooks DG,
|
||
Goldstein A,
|
||
Caldwell J,
|
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Finsecke E,
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Cavallo A,
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Xhaferi B,
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Cutruzzulà R,
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Vaglio A,
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Larti A,
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<span class="bold">PMID: </span><a href="/pubmed/32279418" target="_blank">32279418</a><a href="/pmc/articles/PMC7262190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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Spileers W,
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<div class="nl"><a target="_blank" href="/pubmed/20690115">CEP290, a gene with many faces: mutation overview and presentation of CEP290base.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppieters F,
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Lefever S,
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<div class="nl"><a target="_blank" href="/pubmed/11752023">Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Omran H,
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Sasmaz G,
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Häffner K,
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Volz A,
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||
<div class="nl"><a target="_blank" href="/pubmed/10511339">Clinical nosologic and genetic aspects of Joubert and related syndromes.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chance PF,
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Cavalier L,
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Satran D,
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Pellegrino JE,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20dysplasia%20and%20retinal%20aplasia%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 (22)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39213781">Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrabič N,
|
||
Fakin A,
|
||
Tekavčič Pompe M</span><br />
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||
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||
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|
||
Epub 2024 Aug 29
|
||
doi: 10.1016/j.jfo.2024.104232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39213781" target="_blank">39213781</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Renal%20dysplasia%20and%20retinal%20aplasia%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0403553%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0403553%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0403553%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0403553%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0403553%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0403553%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0403553%5bDISCUI%5d" target="_blank">See all (20)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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