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<!--
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||
UID=11209
|
||
ConceptID=C0035309
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinal disorder</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11209</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.">C0035309</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>Retinal Diseases; Retinopathies; Retinopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Retinopathy (29555009); Retinal disorder (29555009); Retinal disease (29555009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000488">HP:0000488</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005283" target="_blank">MONDO:0005283</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035309[DISCUI]&test_type=Clinical" ref="ncbi_uid=11209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=11209" ref="ncbi_uid=11209">V</a></span></span><span class="TLline">Retinal disorder</span></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/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span><ul><li><span class="matched_ds">Retinal disorder</span><ul><li><span class="TLline"><a href="/medgen/1541" ref="tree=MeSH" title="MedGen record for Angioid streaks">Angioid streaks</a></span></li><li><span class="TLline"><a href="/medgen/147591" ref="tree=MeSH" title="MedGen record for Central serous chorioretinopathy">Central serous chorioretinopathy</a></span></li><li><span class="TLline"><a href="/medgen/676499" ref="tree=MeSH" title="MedGen record for Cone dystrophy">Cone dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/3542" ref="tree=MeSH" title="MedGen record for Color vision deficiency">Color vision deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3786" ref="tree=MeSH" title="MedGen record for Diabetic retinopathy">Diabetic retinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/2531" ref="tree=MeSH" title="MedGen record for Background diabetic retinopathy">Background diabetic retinopathy</a></span></li><li><span class="TLline"><a href="/medgen/56347" ref="tree=MeSH" title="MedGen record for Proliferative diabetic retinopathy">Proliferative diabetic retinopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/573183" ref="tree=MeSH" title="MedGen record for Disorder of retina caused by radiation">Disorder of retina caused by radiation</a></span></li><li><span class="TLline"><a href="/medgen/102319" ref="tree=MeSH" title="MedGen record for Exudative retinopathy">Exudative retinopathy</a></span></li><li><span class="TLline"><a href="/medgen/343561" ref="tree=MeSH" title="MedGen record for Exudative vitreoretinopathy 1">Exudative vitreoretinopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/573220" ref="tree=MeSH" title="MedGen record for Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy</a></span></li><li><span class="TLline"><a href="/medgen/101819" ref="tree=MeSH" title="MedGen record for Hypertensive retinopathy">Hypertensive retinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/602318" ref="tree=MeSH" title="MedGen record for Retinal arterial macroaneurysms">Retinal arterial macroaneurysms</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137922" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis">Leber congenital amaurosis</a></span><ul><li><span class="TLline"><a href="/medgen/419026" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 1">Leber congenital amaurosis 1</a></span></li><li><span class="TLline"><a href="/medgen/348473" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 2">Leber congenital amaurosis 2</a></span></li><li><span class="TLline"><a href="/medgen/346964" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 3">Leber congenital amaurosis 3</a></span></li><li><span class="TLline"><a href="/medgen/346808" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 4">Leber congenital amaurosis 4</a></span></li><li><span class="TLline"><a href="/medgen/388031" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 5">Leber congenital amaurosis 5</a></span></li><li><span class="TLline"><a href="/medgen/344245" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 6">Leber congenital amaurosis 6</a></span></li><li><span class="TLline"><a href="/medgen/462542" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 7">Leber congenital amaurosis 7</a></span></li><li><span class="TLline"><a href="/medgen/462552" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 8">Leber congenital amaurosis 8</a></span></li><li><span class="TLline"><a href="/medgen/325277" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 9">Leber congenital amaurosis 9</a></span></li><li><span class="TLline"><a href="/medgen/346672" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 10">Leber congenital amaurosis 10</a></span></li><li><span class="TLline"><a href="/medgen/326698" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 11">Leber congenital amaurosis 11</a></span></li><li><span class="TLline"><a href="/medgen/347535" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 12">Leber congenital amaurosis 12</a></span></li><li><span class="TLline"><a href="/medgen/382544" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 13">Leber congenital amaurosis 13</a></span></li><li><span class="TLline"><a href="/medgen/442375" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 14">Leber congenital amaurosis 14</a></span></li><li><span class="TLline"><a href="/medgen/462556" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 15">Leber congenital amaurosis 15</a></span></li><li><span class="TLline"><a href="/medgen/481692" ref="tree=MeSH" title="MedGen record for Leber congenital amaurosis 16">Leber congenital amaurosis 16</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233241" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Retinal Disorder">Non-Neoplastic Retinal Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/83290" ref="tree=MeSH" title="MedGen record for Congenital hypertrophy of retinal pigment epithelium">Congenital hypertrophy of retinal pigment epithelium</a></span><ul><li><span class="TLline"><a href="/medgen/892829" ref="tree=MeSH" title="MedGen record for Grouped congenital hypertrophy of retinal pigment epithelium">Grouped congenital hypertrophy of retinal pigment epithelium</a></span></li><li><span class="TLline"><a href="/medgen/866792" ref="tree=MeSH" title="MedGen record for Multiple bilateral congenital hypertrophy of retinal pigment epithelium">Multiple bilateral congenital hypertrophy of retinal pigment epithelium</a></span></li><li><span class="TLline"><a href="/medgen/866793" ref="tree=MeSH" title="MedGen record for Solitary congenital hypertrophy of retinal pigment epithelium">Solitary congenital hypertrophy of retinal pigment epithelium</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75732" ref="tree=MeSH" title="MedGen record for Macular edema">Macular edema</a></span><ul><li><span class="TLline"><a href="/medgen/7435" ref="tree=MeSH" title="MedGen record for Cystoid macular edema">Cystoid macular edema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6176" ref="tree=MeSH" title="MedGen record for Macular hole">Macular hole</a></span><ul><li><span class="TLline"><a href="/medgen/753257" ref="tree=MeSH" title="MedGen record for Full-thickness macular hole">Full-thickness macular hole</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1763726" ref="tree=MeSH" title="MedGen record for Nodular and Massive Retinal Gliosis">Nodular and Massive Retinal Gliosis</a></span></li><li><span class="TLline"><a href="/medgen/87388" ref="tree=MeSH" title="MedGen record for Preretinal fibrosis">Preretinal fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1729204" ref="tree=MeSH" title="MedGen record for Reactive Hyperplasia of the Retinal Pigment Epithelium">Reactive Hyperplasia of the Retinal Pigment Epithelium</a></span></li><li><span class="TLline"><a href="/medgen/48432" ref="tree=MeSH" title="MedGen record for Retinal degeneration">Retinal degeneration</a></span><ul><li><span class="TLline"><a href="/medgen/7434" ref="tree=MeSH" title="MedGen record for Macular degeneration">Macular degeneration</a></span></li><li><span class="TLline"><a href="/medgen/232938" ref="tree=MeSH" title="MedGen record for Peripheral retinal degeneration">Peripheral retinal degeneration</a></span></li><li><span class="TLline"><a href="/medgen/101075" ref="tree=MeSH" title="MedGen record for Retinal atrophy">Retinal atrophy</a></span></li><li><span class="TLline"><a href="/medgen/20549" ref="tree=MeSH" title="MedGen record for Retinal drusen">Retinal drusen</a></span></li><li><span class="TLline"><a href="/medgen/208903" ref="tree=MeSH" title="MedGen record for Retinal dystrophy">Retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/867201" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa inversa">Retinitis pigmentosa inversa</a></span></li><li><span class="TLline"><a href="/medgen/56292" ref="tree=MeSH" title="MedGen record for Retinoschisis">Retinoschisis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/280675" ref="tree=MeSH" title="MedGen record for Retinal Detachment and Defect">Retinal Detachment and Defect</a></span><ul><li><span class="TLline"><a href="/medgen/102318" ref="tree=MeSH" title="MedGen record for Retinal Defect">Retinal Defect</a></span></li><li><span class="TLline"><a href="/medgen/19759" ref="tree=MeSH" title="MedGen record for Retinal detachment">Retinal detachment</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/354977" ref="tree=MeSH" title="MedGen record for Retinal hamartoma">Retinal hamartoma</a></span><ul><li><span class="TLline"><a href="/medgen/396281" ref="tree=MeSH" title="MedGen record for Combined hamartoma of the retinal pigment epithelium and retina">Combined hamartoma of the retinal pigment epithelium and retina</a></span></li><li><span class="TLline"><a href="/medgen/137924" ref="tree=MeSH" title="MedGen record for Retinal astrocytic hamartoma">Retinal astrocytic hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/892596" ref="tree=MeSH" title="MedGen record for Retinal racemose hemangioma">Retinal racemose hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1723618" ref="tree=MeSH" title="MedGen record for Simple Hamartoma of the Retinal Pigment Epithelium">Simple Hamartoma of the Retinal Pigment Epithelium</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57824" ref="tree=MeSH" title="MedGen record for Retinal vascular disorder">Retinal vascular disorder</a></span><ul><li><span class="TLline"><a href="/medgen/19762" ref="tree=MeSH" title="MedGen record for Retinal vascular occlusion">Retinal vascular occlusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19765" ref="tree=MeSH" title="MedGen record for Retinitis">Retinitis</a></span><ul><li><span class="TLline"><a href="/medgen/48434" ref="tree=MeSH" title="MedGen record for Acute retinal necrosis syndrome">Acute retinal necrosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/942" ref="tree=MeSH" title="MedGen record for Chorioretinitis">Chorioretinitis</a></span></li><li><span class="TLline"><a href="/medgen/61532" ref="tree=MeSH" title="MedGen record for Cytomegalovirus retinitis">Cytomegalovirus retinitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20551" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa">Retinitis pigmentosa</a></span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/156019" ref="tree=MeSH" title="MedGen record for Bardet-Biedl syndrome">Bardet-Biedl syndrome</a></span></li><li><span class="TLline"><a href="/medgen/334499" ref="tree=MeSH" title="MedGen record for Bothnia retinal dystrophy">Bothnia retinal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/416624" ref="tree=MeSH" title="MedGen record for Juvenile retinitis pigmentosa, AIPL1-related">Juvenile retinitis pigmentosa, AIPL1-related</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/433159" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA-Associated Leigh Syndrome and NARP">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a></span></li><li><span class="TLline"><a href="/medgen/67395" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 1">Retinitis pigmentosa 1</a></span></li><li><span class="TLline"><a href="/medgen/394544" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 2">Retinitis pigmentosa 2</a></span></li><li><span class="TLline"><a href="/medgen/336999" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 3">Retinitis pigmentosa 3</a></span></li><li><span class="TLline"><a href="/medgen/462351" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 4">Retinitis pigmentosa 4</a></span></li><li><span class="TLline"><a href="/medgen/334168" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 7">Retinitis pigmentosa 7</a></span></li><li><span class="TLline"><a href="/medgen/356743" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 9">Retinitis pigmentosa 9</a></span></li><li><span class="TLline"><a href="/medgen/357247" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 10">Retinitis pigmentosa 10</a></span></li><li><span class="TLline"><a href="/medgen/325055" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 11">Retinitis pigmentosa 11</a></span></li><li><span class="TLline"><a href="/medgen/374019" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 12">Retinitis pigmentosa 12</a></span></li><li><span class="TLline"><a href="/medgen/325486" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 13">Retinitis pigmentosa 13</a></span></li><li><span class="TLline"><a href="/medgen/325056" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 14">Retinitis pigmentosa 14</a></span></li><li><span class="TLline"><a href="/medgen/322153" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 17">Retinitis pigmentosa 17</a></span></li><li><span class="TLline"><a href="/medgen/371314" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 18">Retinitis pigmentosa 18</a></span></li><li><span class="TLline"><a href="/medgen/400996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 19">Retinitis pigmentosa 19</a></span></li><li><span class="TLline"><a href="/medgen/462436" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 20">Retinitis pigmentosa 20</a></span></li><li><span class="TLline"><a href="/medgen/350427" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 25">Retinitis pigmentosa 25</a></span></li><li><span class="TLline"><a href="/medgen/333996" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 26">Retinitis pigmentosa 26</a></span></li><li><span class="TLline"><a href="/medgen/320323" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 27">Retinitis pigmentosa 27</a></span></li><li><span class="TLline"><a href="/medgen/244030" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 28">Retinitis pigmentosa 28</a></span></li><li><span class="TLline"><a href="/medgen/334614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 30">Retinitis pigmentosa 30</a></span></li><li><span class="TLline"><a href="/medgen/372159" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 31">Retinitis pigmentosa 31</a></span></li><li><span class="TLline"><a href="/medgen/332080" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 33">Retinitis pigmentosa 33</a></span></li><li><span class="TLline"><a href="/medgen/339931" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 35">Retinitis pigmentosa 35</a></span></li><li><span class="TLline"><a href="/medgen/351175" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 36">Retinitis pigmentosa 36</a></span></li><li><span class="TLline"><a href="/medgen/410004" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 37">Retinitis pigmentosa 37</a></span></li><li><span class="TLline"><a href="/medgen/462578" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 38">Retinitis pigmentosa 38</a></span></li><li><span class="TLline"><a href="/medgen/462488" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 39">Retinitis pigmentosa 39</a></span></li><li><span class="TLline"><a href="/medgen/462457" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 40">Retinitis pigmentosa 40</a></span></li><li><span class="TLline"><a href="/medgen/383126" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 41">Retinitis pigmentosa 41</a></span></li><li><span class="TLline"><a href="/medgen/442864" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 42">Retinitis pigmentosa 42</a></span></li><li><span class="TLline"><a href="/medgen/462489" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 43">Retinitis pigmentosa 43</a></span></li><li><span class="TLline"><a href="/medgen/462418" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 44">Retinitis pigmentosa 44</a></span></li><li><span class="TLline"><a href="/medgen/462416" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 45">Retinitis pigmentosa 45</a></span></li><li><span class="TLline"><a href="/medgen/382614" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 46">Retinitis pigmentosa 46</a></span></li><li><span class="TLline"><a href="/medgen/462411" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 47">Retinitis pigmentosa 47</a></span></li><li><span class="TLline"><a href="/medgen/462540" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 48">Retinitis pigmentosa 48</a></span></li><li><span class="TLline"><a href="/medgen/442563" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 50">Retinitis pigmentosa 50</a></span></li><li><span class="TLline"><a href="/medgen/462065" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 51">Retinitis pigmentosa 51</a></span></li><li><span class="TLline"><a href="/medgen/462041" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 54">Retinitis pigmentosa 54</a></span></li><li><span class="TLline"><a href="/medgen/462169" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 56">Retinitis pigmentosa 56</a></span></li><li><span class="TLline"><a href="/medgen/462229" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 58">Retinitis pigmentosa 58</a></span></li><li><span class="TLline"><a href="/medgen/462577" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 59">Retinitis pigmentosa 59</a></span></li><li><span class="TLline"><a href="/medgen/462784" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 60">Retinitis pigmentosa 60</a></span></li><li><span class="TLline"><a href="/medgen/481672" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 62">Retinitis pigmentosa 62</a></span></li><li><span class="TLline"><a href="/medgen/482676" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 64">Retinitis pigmentosa 64</a></span></li><li><span class="TLline"><a href="/medgen/765766" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 65">Retinitis pigmentosa 65</a></span></li><li><span class="TLline"><a href="/medgen/811638" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 66">Retinitis pigmentosa 66</a></span></li><li><span class="TLline"><a href="/medgen/816284" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 67">Retinitis pigmentosa 67</a></span></li><li><span class="TLline"><a href="/medgen/816710" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 68">Retinitis pigmentosa 68</a></span></li><li><span class="TLline"><a href="/medgen/862749" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 69">Retinitis pigmentosa 69</a></span></li><li><span class="TLline"><a href="/medgen/863118" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa 70">Retinitis pigmentosa 70</a></span></li><li><span class="TLline"><a href="/medgen/78754" ref="tree=MeSH" title="MedGen record for Usher syndrome">Usher syndrome</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/780910" ref="tree=MeSH" title="MedGen record for Proliferative retinopathy">Proliferative retinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/1661688" ref="tree=MeSH" title="MedGen record for Bilateral Proliferative Retinopathy">Bilateral Proliferative Retinopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66167" ref="tree=MeSH" title="MedGen record for Proliferative vitreoretinopathy">Proliferative vitreoretinopathy</a></span></li><li><span class="TLline"><a href="/medgen/101180" ref="tree=MeSH" title="MedGen record for Retina neoplasm">Retina neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/57580" ref="tree=MeSH" title="MedGen record for Benign neoplasm of retina">Benign neoplasm of retina</a></span><ul><li><span class="TLline"><a href="/medgen/1761376" ref="tree=MeSH" title="MedGen record for Adenoma of the Retinal Pigment Epithelium">Adenoma of the Retinal Pigment Epithelium</a></span></li><li><span class="TLline"><a href="/medgen/152678" ref="tree=MeSH" title="MedGen record for Cavernous hemangioma of retina">Cavernous hemangioma of retina</a></span></li><li><span class="TLline"><a href="/medgen/91105" ref="tree=MeSH" title="MedGen record for Retinocytoma">Retinocytoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6192" ref="tree=MeSH" title="MedGen record for Malignant tumor of retina">Malignant tumor of retina</a></span><ul><li><span class="TLline"><a href="/medgen/146904" ref="tree=MeSH" title="MedGen record for Metastatic Malignant Neoplasm in the Retina">Metastatic Malignant Neoplasm in the Retina</a></span></li><li><span class="TLline"><a href="/medgen/83291" ref="tree=MeSH" title="MedGen record for Retina lymphoma">Retina lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/163431" ref="tree=MeSH" title="MedGen record for Retinal melanoma">Retinal melanoma</a></span></li><li><span class="TLline"><a href="/medgen/1721490" ref="tree=MeSH" title="MedGen record for Retinal Pigment Epithelium Adenocarcinoma">Retinal Pigment Epithelium Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/20552" ref="tree=MeSH" title="MedGen record for Retinoblastoma">Retinoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/152677" ref="tree=MeSH" title="MedGen record for Retinal capillary hemangioma">Retinal capillary hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/277595" ref="tree=MeSH" title="MedGen record for Retinal cell neoplasm">Retinal cell neoplasm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11208" ref="tree=MeSH" title="MedGen record for Retinal arterial occlusion">Retinal arterial occlusion</a></span><ul><li><span class="TLline"><a href="/medgen/14217" ref="tree=MeSH" title="MedGen record for Branch retinal artery occlusion">Branch retinal artery occlusion</a></span></li><li><span class="TLline"><a href="/medgen/40177" ref="tree=MeSH" title="MedGen record for Central retinal artery occlusion">Central retinal artery occlusion</a></span></li><li><span class="TLline"><a href="/medgen/573195" ref="tree=MeSH" title="MedGen record for Cilioretinal artery occlusion">Cilioretinal artery occlusion</a></span></li><li><span class="TLline"><a href="/medgen/1702781" ref="tree=MeSH" title="MedGen record for Ophthalmic artery occlusion">Ophthalmic artery occlusion</a></span></li><li><span class="TLline"><a href="/medgen/57599" ref="tree=MeSH" title="MedGen record for Partial arterial retinal occlusion">Partial arterial retinal occlusion</a></span></li><li><span class="TLline"><a href="/medgen/439270" ref="tree=MeSH" title="MedGen record for Susac syndrome">Susac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/102320" ref="tree=MeSH" title="MedGen record for Transient retinal arterial occlusion">Transient retinal arterial occlusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48433" ref="tree=MeSH" title="MedGen record for Retinal dysplasia">Retinal dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/11210" ref="tree=MeSH" title="MedGen record for Retinal hemorrhage">Retinal hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/1635066" ref="tree=MeSH" title="MedGen record for Intraretinal hemorrhage">Intraretinal hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/633876" ref="tree=MeSH" title="MedGen record for Dot-and-blot retinal hemorrhage">Dot-and-blot retinal hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/633875" ref="tree=MeSH" title="MedGen record for Flame-shaped retinal hemorrhage">Flame-shaped retinal hemorrhage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1644719" ref="tree=MeSH" title="MedGen record for Sub-inner limiting membrane hemorrhage">Sub-inner limiting membrane hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/543137" ref="tree=MeSH" title="MedGen record for Subretinal hemorrhage">Subretinal hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/909943" ref="tree=MeSH" title="MedGen record for Subretinal pigment epithelium hemorrhage">Subretinal pigment epithelium hemorrhage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20550" ref="tree=MeSH" title="MedGen record for Retinal neovascularization">Retinal neovascularization</a></span><ul><li><span class="TLline"><a href="/medgen/633873" ref="tree=MeSH" title="MedGen record for Peripheral retinal neovascularization">Peripheral retinal neovascularization</a></span></li><li><span class="TLline"><a href="/medgen/870359" ref="tree=MeSH" title="MedGen record for Posterior retinal neovascularization">Posterior retinal neovascularization</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48435" ref="tree=MeSH" title="MedGen record for Retinal perforation">Retinal perforation</a></span><ul><li><span class="TLline"><a href="/medgen/1642357" ref="tree=MeSH" title="MedGen record for Retinal hole">Retinal hole</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57503" ref="tree=MeSH" title="MedGen record for Retinal vasculitis">Retinal vasculitis</a></span><ul><li><span class="TLline"><a href="/medgen/124383" ref="tree=MeSH" title="MedGen record for Retinal arteritis">Retinal arteritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19763" ref="tree=MeSH" title="MedGen record for Retinal vein occlusion">Retinal vein occlusion</a></span><ul><li><span class="TLline"><a href="/medgen/573205" ref="tree=MeSH" title="MedGen record for Branch retinal vein occlusion">Branch retinal vein occlusion</a></span></li><li><span class="TLline"><a href="/medgen/509679" ref="tree=MeSH" title="MedGen record for Central retinal vein occlusion">Central retinal vein occlusion</a></span></li><li><span class="TLline"><a href="/medgen/1703639" ref="tree=MeSH" title="MedGen record for Hemiretinal vein occlusion">Hemiretinal vein occlusion</a></span></li><li><span class="TLline"><a href="/medgen/78753" ref="tree=MeSH" title="MedGen record for Partial retinal vein occlusion">Partial retinal vein occlusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/48438" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity">Retinopathy of prematurity</a></span><ul><li><span class="TLline"><a href="/medgen/1634291" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity plus">Retinopathy of prematurity plus</a></span></li><li><span class="TLline"><a href="/medgen/1647390" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity pre-plus">Retinopathy of prematurity pre-plus</a></span></li><li><span class="TLline"><a href="/medgen/1645380" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity prethreshold">Retinopathy of prematurity prethreshold</a></span></li><li><span class="TLline"><a href="/medgen/473427" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 1">Retinopathy of prematurity stage 1</a></span></li><li><span class="TLline"><a href="/medgen/473428" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 2">Retinopathy of prematurity stage 2</a></span></li><li><span class="TLline"><a href="/medgen/730846" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 3">Retinopathy of prematurity stage 3</a></span></li><li><span class="TLline"><a href="/medgen/473429" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 4">Retinopathy of prematurity stage 4</a></span><ul><li><span class="TLline"><a href="/medgen/1642429" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 4a">Retinopathy of prematurity stage 4a</a></span></li><li><span class="TLline"><a href="/medgen/1633621" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 4b">Retinopathy of prematurity stage 4b</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/473430" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 5">Retinopathy of prematurity stage 5</a></span><ul><li><span class="TLline"><a href="/medgen/1636464" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 5a">Retinopathy of prematurity stage 5a</a></span></li><li><span class="TLline"><a href="/medgen/1642214" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity stage 5b">Retinopathy of prematurity stage 5b</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1638063" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity threshold">Retinopathy of prematurity threshold</a></span></li><li><span class="TLline"><a href="/medgen/768598" ref="tree=MeSH" title="MedGen record for Retinopathy of Prematurity with Plus Disease">Retinopathy of Prematurity with Plus Disease</a></span></li><li><span class="TLline"><a href="/medgen/1643726" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity zone I">Retinopathy of prematurity zone I</a></span></li><li><span class="TLline"><a href="/medgen/1639365" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity zone II">Retinopathy of prematurity zone II</a></span></li><li><span class="TLline"><a href="/medgen/1639385" ref="tree=MeSH" title="MedGen record for Retinopathy of prematurity zone III">Retinopathy of prematurity zone III</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_1253"><div><strong>Abetalipoproteinaemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1253</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.">C0000744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1253">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_287"><div><strong>Hb SS disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>287</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.">C0002895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a "splenic sequestration." The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections, primarily encapsulated organisms. Acute chest syndrome (ACS) is a major cause of mortality in SCD. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation as well as activating pathways that contribute to the pathophysiology directly. Individuals with the highest rates of hemolysis are at higher risk for pulmonary artery hypertension, priapism, and leg ulcers and may be relatively protected from vaso-occlusive pain.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/287">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_10988"><div><strong>Pseudo-Hurler polydystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10988</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.">C0033788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10988">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75658"><div><strong>Primary hyperoxaluria, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75658</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.">C0268164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis (i.e., calcium oxalate kidney stones) in the renal pelvis / urinary tract; often the crystals deposit in kidney parenchyma (nephrocalcinosis). The age at presentation of PH1 ranges from infancy (age <12 months) in 10% of individuals, childhood/adolescence (age 1-17 years) in 70%, and adulthood (age =18 years) in 20%. The natural history of untreated PH1 is (1) progressive decline in kidney function due to complications of nephrolithiasis (e.g., urinary obstruction, infection) and nephrocalcinosis, and (2) in persons with advanced chronic kidney disease (CKD), high plasma oxalate concentrations result in other organ and tissue damage from calcium oxalate deposition (i.e., "oxalosis"), most commonly in the bones, heart, and retina. In the absence of treatment, progression of oxalosis results in death from kidney failure and/or other organ involvement.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75658">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75678"><div><strong>Hyperphosphatasemia with bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75678</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.">C0268414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75678">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75701"><div><strong>Juvenile nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75701</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.">C0268626</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75701">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_231285"><div><strong>NARP syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231285</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.">C1328349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial DNA-associated Leigh syndrome spectrum (mtDNA-LSS) is part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation, which includes the overlapping phenotypes mtDNA-associated Leigh syndrome and mtDNA-associated Leigh-like syndrome. Mitochondrial DNA-LSS is characterized by onset of manifestations typically between ages three and 12 months, often following an intercurrent illness (usually viral) or metabolic challenge (vaccinations, surgery, prolonged fasting). Decompensation (often with elevated lactate levels in blood and/or cerebrospinal fluid) is typically associated with developmental delay and/or regression. Neurologic features include hypotonia, spasticity, seizures, movement disorders, cerebellar ataxia, and peripheral neuropathy. Brain stem dysfunction may manifest with respiratory symptoms, swallowing difficulties, ophthalmoparesis, and abnormalities in thermoregulation. Extraneurologic manifestations may include poor weight gain, cardiomyopathy, and conduction defects. Up to 50% of individuals die by age three years, most often from respiratory or cardiac failure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/231285">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324784"><div><strong>Congenital disorder of glycosylation type 1E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324784</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.">C1837396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a discussion of the classification of CDGs, see CDG Ia (212065).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324784">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325457"><div><strong>Neuronal ceroid lipofuscinosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325457</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.">C1838571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325457">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344198"><div><strong>Late-onset retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344198</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.">C1854065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344198">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395295"><div><strong>Bardet-Biedl syndrome 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395295</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.">C1859569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bardet-Biedl syndrome-11 (BBS11) is a pleiotropic autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities, learning disabilities, and hypogenitalism (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395295">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_401072"><div><strong>Karsch-Neugebauer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401072</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.">C1866740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/401072">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_357237"><div><strong>Dominant pericentral pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357237</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.">C1867261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/357237">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</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.">C2931187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462251"><div><strong>Hereditary spastic paraplegia 48</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462251</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.">C3150901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spastic paraplegia-48 (SPG48) is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by Hirst et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462251">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482527"><div><strong>Joubert syndrome 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482527</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.">C3280897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482527">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767149"><div><strong>Joubert syndrome 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767149</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.">C3554235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767149">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767448"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767448</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.">C3554534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Kennaway et al., 1990 and Oquendo et al., 2004). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/767448">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_816542"><div><strong>Joubert syndrome 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816542</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.">C3810212</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/816542">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863825"><div><strong>Microcephaly and chorioretinopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863825</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.">C4015388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014). For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (251270).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863825">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934673"><div><strong>Joubert syndrome 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934673</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.">C4310706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934673">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1627793"><div><strong>Meckel syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1627793</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.">C4539714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1627793">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1620071"><div><strong>Orofaciodigital syndrome 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620071</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.">C4539729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1620071">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782909"><div><strong>Odontochondrodysplasia 2 with hearing loss and diabetes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782909</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.">C5543275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability (Cauwels et al., 2005; Lekszas et al., 2020). For a discussion of genetic heterogeneity of ODCD, see ODCD1 (184260).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782909">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786855"><div><strong>Spinocerebellar ataxia, autosomal recessive 31</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786855</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.">C5543627</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by Collier et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786855">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799030"><div><strong>Combined oxidative phosphorylation deficiency 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799030</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.">C5567607</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799030">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1840225"><div><strong>Intellectual developmental disorder, X-linked 112</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840225</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.">C5829589</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840225">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abetalipoproteinaemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation type 1E</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dominant pericentral pigmentary retinopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hb SS disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 48</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperphosphatasemia with bone disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, X-linked 112</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934673" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile nephropathic cystinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Karsch-Neugebauer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Late-onset retinal degeneration</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1627793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meckel syndrome 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly and chorioretinopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">NARP syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontochondrodysplasia 2 with hearing loss and diabetes</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1620071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome 16</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hyperoxaluria, type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-Hurler polydystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786855" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 31</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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/31835688">Next-Generation Technologies and Strategies for the Management of Retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gudiseva HV,
|
||
Berry JL,
|
||
Polski A,
|
||
Tummina SJ,
|
||
O'Brien JM</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2019 Dec 11;10(12)
|
||
doi: 10.3390/genes10121032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31835688" target="_blank">31835688</a><a href="/pmc/articles/PMC6947430" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30451173">Current management strategy of polypoidal choroidal vasculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ho CPS,
|
||
Lai TYY</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2018 Dec;66(12):1727-1735.
|
||
doi: 10.4103/ijo.IJO_975_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30451173" target="_blank">30451173</a><a href="/pmc/articles/PMC6256896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28846017">Pharmacologic Treatment of Wet Type Age-related Macular Degeneration; Current and Evolving Therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shams Najafabadi H,
|
||
Daftarian N,
|
||
Ahmadieh H,
|
||
Soheili ZS</span><br />
|
||
<span class="medgenPMjournal">Arch Iran Med</span>
|
||
2017 Aug;20(8):525-537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28846017" target="_blank">28846017</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinal%20disorder%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 (18)</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/31734720">Corticosteroids usage and central serous chorioretinopathy: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ge G,
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Xu Z,
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2020 Jan;258(1):71-77.
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Epub 2019 Nov 16
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<div class="nl"><a target="_blank" href="/pubmed/29205980">Retinopathy of prematurity - from recognition of risk factors to treatment recommendations.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20disorder%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 (105)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31734720">Corticosteroids usage and central serous chorioretinopathy: a meta-analysis.</a></div>
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Epub 2019 Nov 16
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<span class="bold">PMID: </span><a href="/pubmed/31734720" target="_blank">31734720</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28420777">Retinopathy of Prematurity.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bashinsky AL</span><br />
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<span class="medgenPMjournal">N C Med J</span>
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2017 Mar-Apr;78(2):124-128.
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doi: 10.18043/ncm.78.2.124.
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<span class="bold">PMID: </span><a href="/pubmed/28420777" target="_blank">28420777</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26973287">Acute macular neuroretinopathy: A comprehensive review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bhavsar KV,
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Lin S,
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Rahimy E,
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Joseph A,
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Freund KB,
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Sarraf D,
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Cunningham ET Jr</span><br />
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<span class="medgenPMjournal">Surv Ophthalmol</span>
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2016 Sep-Oct;61(5):538-65.
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Epub 2016 Mar 10
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doi: 10.1016/j.survophthal.2016.03.003.
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<span class="bold">PMID: </span><a href="/pubmed/26973287" target="_blank">26973287</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8545799">Amblyopia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Campos E</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20disorder%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 (140)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37298544">Current Treatments for Diabetic Macular Edema.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tatsumi T</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/31734720">Corticosteroids usage and central serous chorioretinopathy: a meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ge G,
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Zhang Y,
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Zhang Y,
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Xu Z,
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Zhang M</span><br />
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<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
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2020 Jan;258(1):71-77.
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Epub 2019 Nov 16
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doi: 10.1007/s00417-019-04486-w.
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<span class="bold">PMID: </span><a href="/pubmed/31734720" target="_blank">31734720</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30264267">Chinese Medicines in Diabetic Retinopathy Therapies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Song W,
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<div class="nl"><a target="_blank" href="/pubmed/29364503">Surgery for postvitrectomy cataract.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Do DV,
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Gichuhi S,
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Vedula SS,
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Hawkins BS</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/24357418">Surgery for post-vitrectomy cataract.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Do DV,
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Gichuhi S,
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Vedula SS,
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Hardcastle C,
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Ramsden S,
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Lotery AJ,
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Lench N,
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Lovell SC,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20disorder%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 (77)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37691227">Neuroprotective Effect of Tauroursodeoxycholic Acid (TUDCA) on In Vitro and In Vivo Models of Retinal Disorders: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
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Jin Y,
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Xu K,
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Zhou W,
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Li X</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/32041442">Lutein supplementation and retinopathy of prematurity: a meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cota F,
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Costa S,
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Giannantonio C,
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Purcaro V,
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<span class="bold">PMID: </span><a href="/pubmed/32041442" target="_blank">32041442</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29364503">Surgery for postvitrectomy cataract.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Do DV,
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Gichuhi S,
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Vedula SS,
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Hawkins BS</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 Jan 10;1(1):CD006366.
|
||
doi: 10.1002/14651858.CD006366.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29364503" target="_blank">29364503</a><a href="/pmc/articles/PMC6491312" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27573507">No evidence for thrombophilia in patients with retinal venous occlusion: a systematic GRADE-based review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirkegaard K,
|
||
Heegaard S,
|
||
Hvas AM</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2017 Feb;95(1):12-19.
|
||
Epub 2016 Aug 29
|
||
doi: 10.1111/aos.13214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27573507" target="_blank">27573507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24357418">Surgery for post-vitrectomy cataract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Do DV,
|
||
Gichuhi S,
|
||
Vedula SS,
|
||
Hawkins BS</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2013 Dec 19;12(12):CD006366.
|
||
doi: 10.1002/14651858.CD006366.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24357418" target="_blank">24357418</a><a href="/pmc/articles/PMC4258709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20disorder%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 (6)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0035309%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
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<li><a href="/gtr/tests?term=C0035309%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
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