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<meta name="keywords" content="C3805373, cataract 13 with adult i phenotype, ctrct13, disease or syndrome, gcnt2, 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="The i and I antigens of the I blood group system (110800) are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; 600429), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (see 110800), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (review by Yu and Lin, 2011)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Cataract 13 with adult I phenotype (Concept Id: C3805373)
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<!--
|
||
UID=811703
|
||
ConceptID=C3805373
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cataract 13 with adult I phenotype<span class="h1sub">(CTRCT13)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811703</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:">C3805373</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>CATARACT 13 WITH ADULT i PHENOTYPE; CTRCT13</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="GCNT2 - ID: 2651 - NCBI Gene" href="/gene/2651" class="medgenPMinfo">GCNT2</a> (6p24.3-24.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007289" target="_blank">MONDO:0007289</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/116700" target="_blank">116700</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">The i and I antigens of the I blood group system (110800) are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; 600429), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (see 110800), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (review by Yu and Lin, 2011). [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_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_3202"><div><strong>Developmental cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3202</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.">C0009691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3202">Feature record</a> | <a href="/medgen?term=%22Developmental%20cataract%22%5BClinical%20Features%5D%20OR%203202%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_3202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental cataract</a></span></li></ul></li></ul></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/39212610">The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Yi Z,
|
||
Zheng Y,
|
||
Ouyang J,
|
||
Guo D,
|
||
Li S,
|
||
Xiao X,
|
||
Wang P,
|
||
Sun W,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2024 Aug 1;65(10):46.
|
||
doi: 10.1167/iovs.65.10.46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39212610" target="_blank">39212610</a><a href="/pmc/articles/PMC11364179" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39123271">Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long X,
|
||
Xiong W,
|
||
Wang X,
|
||
Geng J,
|
||
Zhong M,
|
||
Huang Y,
|
||
Liu M,
|
||
Bu F,
|
||
Cheng J,
|
||
Lu Y,
|
||
Yuan H</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2024 Aug 9;17(1):203.
|
||
doi: 10.1186/s12920-024-01984-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39123271" target="_blank">39123271</a><a href="/pmc/articles/PMC11312174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39016117">Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gasparini S,
|
||
Balestrini S,
|
||
Saccaro LF,
|
||
Bacci G,
|
||
Panichella G,
|
||
Montomoli M,
|
||
Cantalupo G,
|
||
Bigoni S,
|
||
Mancano G,
|
||
Pellacani S,
|
||
Leuzzi V,
|
||
Volpi N,
|
||
Mari F,
|
||
Melani F,
|
||
Cavallin M,
|
||
Pisano T,
|
||
Porcedda G,
|
||
Vaglio A,
|
||
Mei D,
|
||
Barba C,
|
||
Parrini E,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32099.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1002/ajmg.c.32099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39016117" target="_blank">39016117</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cataract%2013%20with%20adult%20i%20phenotype)%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 (6)</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/39212610">The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Y,
|
||
Yi Z,
|
||
Zheng Y,
|
||
Ouyang J,
|
||
Guo D,
|
||
Li S,
|
||
Xiao X,
|
||
Wang P,
|
||
Sun W,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2024 Aug 1;65(10):46.
|
||
doi: 10.1167/iovs.65.10.46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39212610" target="_blank">39212610</a><a href="/pmc/articles/PMC11364179" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39016117">Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gasparini S,
|
||
Balestrini S,
|
||
Saccaro LF,
|
||
Bacci G,
|
||
Panichella G,
|
||
Montomoli M,
|
||
Cantalupo G,
|
||
Bigoni S,
|
||
Mancano G,
|
||
Pellacani S,
|
||
Leuzzi V,
|
||
Volpi N,
|
||
Mari F,
|
||
Melani F,
|
||
Cavallin M,
|
||
Pisano T,
|
||
Porcedda G,
|
||
Vaglio A,
|
||
Mei D,
|
||
Barba C,
|
||
Parrini E,
|
||
Guerrini R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2024 Dec;196(4):e32099.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1002/ajmg.c.32099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39016117" target="_blank">39016117</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38597178">Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanwar K,
|
||
Bashey S,
|
||
Bohnsack BL,
|
||
Drackley A,
|
||
Ing A,
|
||
Rahmani S,
|
||
Ranaivo HR,
|
||
McMullen P,
|
||
Skol A,
|
||
Yap K,
|
||
Allegretti V,
|
||
Rossen JL</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Aug;194(8):e63618.
|
||
Epub 2024 Apr 10
|
||
doi: 10.1002/ajmg.a.63618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38597178" target="_blank">38597178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30054180">Movement disorders in cerebrotendinous xanthomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stelten BML,
|
||
van de Warrenburg BPC,
|
||
Wevers RA,
|
||
Verrips A</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Jan;58:12-16.
|
||
Epub 2018 Jul 19
|
||
doi: 10.1016/j.parkreldis.2018.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30054180" target="_blank">30054180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30444160">Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee J,
|
||
Scanga HL,
|
||
Dansingani KK,
|
||
Taubenslag KJ,
|
||
Zlotcavitch L,
|
||
Chauhan BK,
|
||
Sylvester CL,
|
||
Morton DH,
|
||
Nischal KK</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2018 Dec;39(6):735-740.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1080/13816810.2018.1547913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30444160" target="_blank">30444160</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cataract%2013%20with%20adult%20I%20phenotype%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 (33)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39123271">Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long X,
|
||
Xiong W,
|
||
Wang X,
|
||
Geng J,
|
||
Zhong M,
|
||
Huang Y,
|
||
Liu M,
|
||
Bu F,
|
||
Cheng J,
|
||
Lu Y,
|
||
Yuan H</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2024 Aug 9;17(1):203.
|
||
doi: 10.1186/s12920-024-01984-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39123271" target="_blank">39123271</a><a href="/pmc/articles/PMC11312174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33494148">Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bell S,
|
||
Malka S,
|
||
Lloyd IC,
|
||
Moosajee M</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jan 21;12(2)
|
||
doi: 10.3390/genes12020131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33494148" target="_blank">33494148</a><a href="/pmc/articles/PMC7909819" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30054180">Movement disorders in cerebrotendinous xanthomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stelten BML,
|
||
van de Warrenburg BPC,
|
||
Wevers RA,
|
||
Verrips A</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Jan;58:12-16.
|
||
Epub 2018 Jul 19
|
||
doi: 10.1016/j.parkreldis.2018.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30054180" target="_blank">30054180</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23942204">Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas S,
|
||
Thomas MG,
|
||
Andrews C,
|
||
Chan WM,
|
||
Proudlock FA,
|
||
McLean RJ,
|
||
Pradeep A,
|
||
Engle EC,
|
||
Gottlob I</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Mar;22(3):344-9.
|
||
Epub 2013 Aug 14
|
||
doi: 10.1038/ejhg.2013.162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23942204" target="_blank">23942204</a><a href="/pmc/articles/PMC3925285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16586236">Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayol L,
|
||
Garcia P,
|
||
Denis D,
|
||
Philip N,
|
||
Simeoni U</span><br />
|
||
<span class="medgenPMjournal">Am J Perinatol</span>
|
||
2006 Apr;23(3):197-200.
|
||
Epub 2006 Mar 29
|
||
doi: 10.1055/s-2006-934099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16586236" target="_blank">16586236</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cataract%2013%20with%20adult%20I%20phenotype%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 (35)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30160832">Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amudhavalli SM,
|
||
Hanson R,
|
||
Angle B,
|
||
Bontempo K,
|
||
Gripp KW</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2018 Jul;176(7):1648-1656.
|
||
doi: 10.1002/ajmg.a.38832.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30160832" target="_blank">30160832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29654738">Genetic and Phenotypic Traits of Staphylococcus Epidermidis Strains Causing Postcataract Endophthalmitis Compared to Commensal Conjunctival Flora.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiquet C,
|
||
Musson C,
|
||
Aptel F,
|
||
Boisset S,
|
||
Maurin M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2018 Jul;191:76-82.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1016/j.ajo.2018.03.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29654738" target="_blank">29654738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25097155">Acanthamoeba sclerokeratitis: epidemiology, clinical features, and treatment outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iovieno A,
|
||
Gore DM,
|
||
Carnt N,
|
||
Dart JK</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2014 Dec;121(12):2340-7.
|
||
Epub 2014 Aug 2
|
||
doi: 10.1016/j.ophtha.2014.06.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25097155" target="_blank">25097155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22412971">EPHA2 polymorphisms and age-related cataract in India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundaresan P,
|
||
Ravindran RD,
|
||
Vashist P,
|
||
Shanker A,
|
||
Nitsch D,
|
||
Talwar B,
|
||
Maraini G,
|
||
Camparini M,
|
||
Nonyane BA,
|
||
Smeeth L,
|
||
Chakravarthy U,
|
||
Hejtmancik JF,
|
||
Fletcher AE</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2012;7(3):e33001.
|
||
Epub 2012 Mar 8
|
||
doi: 10.1371/journal.pone.0033001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22412971" target="_blank">22412971</a><a href="/pmc/articles/PMC3297613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15030822">Keratocyte activation and inflammation in diffuse lamellar keratitis after formation of an epithelial defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moilanen JA,
|
||
Holopainen JM,
|
||
Helintö M,
|
||
Vesaluoma MH,
|
||
Tervo TM</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2004 Feb;30(2):341-9.
|
||
doi: 10.1016/j.jcrs.2003.09.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15030822" target="_blank">15030822</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cataract%2013%20with%20adult%20I%20phenotype%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29654738">Genetic and Phenotypic Traits of Staphylococcus Epidermidis Strains Causing Postcataract Endophthalmitis Compared to Commensal Conjunctival Flora.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiquet C,
|
||
Musson C,
|
||
Aptel F,
|
||
Boisset S,
|
||
Maurin M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2018 Jul;191:76-82.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1016/j.ajo.2018.03.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29654738" target="_blank">29654738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29321515">Nationwide survey on cerebrotendinous xanthomatosis in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sekijima Y,
|
||
Koyama S,
|
||
Yoshinaga T,
|
||
Koinuma M,
|
||
Inaba Y</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2018 Mar;63(3):271-280.
|
||
Epub 2018 Jan 10
|
||
doi: 10.1038/s10038-017-0389-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29321515" target="_blank">29321515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23942204">Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas S,
|
||
Thomas MG,
|
||
Andrews C,
|
||
Chan WM,
|
||
Proudlock FA,
|
||
McLean RJ,
|
||
Pradeep A,
|
||
Engle EC,
|
||
Gottlob I</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Mar;22(3):344-9.
|
||
Epub 2013 Aug 14
|
||
doi: 10.1038/ejhg.2013.162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23942204" target="_blank">23942204</a><a href="/pmc/articles/PMC3925285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16586236">Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayol L,
|
||
Garcia P,
|
||
Denis D,
|
||
Philip N,
|
||
Simeoni U</span><br />
|
||
<span class="medgenPMjournal">Am J Perinatol</span>
|
||
2006 Apr;23(3):197-200.
|
||
Epub 2006 Mar 29
|
||
doi: 10.1055/s-2006-934099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16586236" target="_blank">16586236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11739194">Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu LC,
|
||
Twu YC,
|
||
Chang CY,
|
||
Lin M</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2001 Dec 15;98(13):3840-5.
|
||
doi: 10.1182/blood.v98.13.3840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11739194" target="_blank">11739194</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cataract%2013%20with%20adult%20I%20phenotype%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39099467">Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fussiger H,
|
||
Lima PLGSB,
|
||
Souza PVS,
|
||
Freua F,
|
||
Husny ASE,
|
||
Leão EKEA,
|
||
Braga-Neto P,
|
||
Kok F,
|
||
Lynch DS,
|
||
Saute JAM,
|
||
Nóbrega PR</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2024 Dec;106(6):721-732.
|
||
Epub 2024 Aug 5
|
||
doi: 10.1111/cge.14602.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39099467" target="_blank">39099467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38872169">Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-de la Rosa A,
|
||
Telleria JJ,
|
||
Posada de la Paz M,
|
||
Hermosilla-Gimeno IM,
|
||
Rivas MA,
|
||
Gilabert R,
|
||
Coco-Martín RM</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Jun 13;19(1):234.
|
||
doi: 10.1186/s13023-024-03242-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38872169" target="_blank">38872169</a><a href="/pmc/articles/PMC11170770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26112709">Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen JW,
|
||
Zhao L,
|
||
Zhang F,
|
||
Li L,
|
||
Gu YH,
|
||
Zhou JY,
|
||
Zhang H,
|
||
Meng M,
|
||
Zhang KH,
|
||
Le WD,
|
||
Dong CB</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2015 Jul 5;128(13):1714-23.
|
||
doi: 10.4103/0366-6999.159340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26112709" target="_blank">26112709</a><a href="/pmc/articles/PMC4733707" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16586236">Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayol L,
|
||
Garcia P,
|
||
Denis D,
|
||
Philip N,
|
||
Simeoni U</span><br />
|
||
<span class="medgenPMjournal">Am J Perinatol</span>
|
||
2006 Apr;23(3):197-200.
|
||
Epub 2006 Mar 29
|
||
doi: 10.1055/s-2006-934099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16586236" target="_blank">16586236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11804206">Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dotti MT,
|
||
Rufa A,
|
||
Federico A</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2001 Dec;24(7):696-706.
|
||
doi: 10.1023/a:1012981019336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11804206" target="_blank">11804206</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cataract%2013%20with%20adult%20I%20phenotype%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 (34)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3805373%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C3805373%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3805373%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C3805373%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3805373%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=116700" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cataract%2013%20with%20adult%20I%20phenotype" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cataract%2013%20with%20adult%20i%20phenotype)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600429" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2651[geneid]" target="_blank">View GCNT2 variations in ClinVar</a></li><li><a href="/nuccore/197313657" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=116700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cataract_13_with_adult_i_phenotype" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cataract%2013%20with%20adult%20I%20phenotype" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Cataract%2013%20with%20adult%20I%20phenotype" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Cataract%2013%20with%20adult%20I%20phenotype%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=811703" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=811703" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3805373[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3805373[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3805373[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Research tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=811703" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=811703" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=811703" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=811703" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=811703" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca6d4fb15b832ebc08bc74">Cataract 13 with adult I phenotype</a>
|
||
<div class="ralinkpop offscreen_noflow">Cataract 13 with adult I phenotype<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
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