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<meta name="keywords" content="C3151617, anterior segment dysgenesis 7, anterior segment dysgenesis 7, with sclerocornea, anterior segment dysgenesis caused by mutation in pxdn, asgd7, ccmco, congenital cataract microcornea with corneal opacity, copoa, corneal opacification and other ocular anomalies, corneal opacification with other ocular anomalies, disease or syndrome, pxdn, pxdn anterior segment dysgenesis, pxdn-related ocular dysgenesis, sclerocornea with other ocular anomalies, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=462967
|
||
ConceptID=C3151617
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Anterior segment dysgenesis 7<span class="h1sub">(ASGD7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462967</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3151617</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Anterior segment dysgenesis 7, with sclerocornea; ASGD7; SCLEROCORNEA WITH OTHER OCULAR ANOMALIES</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PXDN - ID: 7837 - NCBI Gene" href="/gene/7837" class="medgenPMinfo">PXDN</a> (2p25.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010015" target="_blank">MONDO:0010015</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/269400" target="_blank">269400</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289499">ORPHA289499</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_40485"><div><strong>Corneal opacity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40485</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.">C0010038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of corneal clarity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40485">Feature record</a> | <a href="/medgen?term=%22Corneal%20opacity%22%5BClinical%20Features%5D%20OR%2040485%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</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.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488783"><div><strong>Anterior synechiae of the anterior chamber</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488783</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.">C0152252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adhesions between the iris and the cornea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488783">Feature record</a> | <a href="/medgen?term=%22Anterior%20synechiae%20of%20the%20anterior%20chamber%22%5BClinical%20Features%5D%20OR%20488783%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68606"><div><strong>Raised intraocular pressure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68606</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.">C0234708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intraocular pressure that is 2 standard deviations above the population mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68606">Feature record</a> | <a href="/medgen?term=%22Raised%20intraocular%20pressure%22%5BClinical%20Features%5D%20OR%2068606%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116097"><div><strong>Iris coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116097</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.">C0240063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A coloboma of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116097">Feature record</a> | <a href="/medgen?term=%22Iris%20coloboma%22%5BClinical%20Features%5D%20OR%20116097%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78610"><div><strong>Microcornea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78610</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.">C0266544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78610">Feature record</a> | <a href="/medgen?term=%22Microcornea%22%5BClinical%20Features%5D%20OR%2078610%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344000"><div><strong>Sclerocornea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344000</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.">C1853235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344000">Feature record</a> | <a href="/medgen?term=%22Sclerocornea%22%5BClinical%20Features%5D%20OR%20344000%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_350766"><div><strong>Anterior segment dysgenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350766</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.">C1862839</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Some patients with ASGD1 have been reported with the Peters anomaly subtype. In its simplest form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350766">Feature record</a> | <a href="/medgen?term=%22Anterior%20segment%20dysgenesis%22%5BClinical%20Features%5D%20OR%20350766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1641795"><div><strong>Buphthalmos</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641795</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.">C4551507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffusely large eye (with megalocornea) associated with glaucoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641795">Feature record</a> | <a href="/medgen?term=%22Buphthalmos%22%5BClinical%20Features%5D%20OR%201641795%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_350766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior segment dysgenesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior synechiae of the anterior chamber</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1641795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Buphthalmos</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal opacity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iris coloboma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcornea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68606" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Raised intraocular pressure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sclerocornea</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1862839[DISCUI]&test_type=Clinical" ref="ncbi_uid=350766">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350766" target="_blank" href="/omim/107250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350766" ref="ncbi_uid=350766">V</a></span></span><span class="TLline"><a href="/medgen/350766" ref="tree=GTR&ncbi_uid=350766&link_uid=350766" title="View MedGen record for 'Anterior segment dysgenesis'">Anterior segment dysgenesis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551992[DISCUI]&test_type=Clinical" ref="ncbi_uid=1631197">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4551992[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1631197">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1631197" target="_blank" href="/omim/107250">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1631197" ref="ncbi_uid=1631197">V</a></span></span><span class="TLline"><a href="/medgen/1631197" ref="tree=GTR&ncbi_uid=1631197&link_uid=1631197" title="View MedGen record for 'Anterior segment dysgenesis 1'">Anterior segment dysgenesis 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866560[DISCUI]&test_type=Clinical" ref="ncbi_uid=355748">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355748" target="_blank" href="/omim/601631">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355748" ref="ncbi_uid=355748">V</a></span></span><span class="TLline"><a href="/medgen/355748" ref="tree=GTR&ncbi_uid=355748&link_uid=355748" title="View MedGen record for 'Anterior segment dysgenesis 3'">Anterior segment dysgenesis 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842031[DISCUI]&test_type=Clinical" ref="ncbi_uid=330750">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1842031[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=330750">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330750" target="_blank" href="/omim/137600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330750" ref="ncbi_uid=330750">V</a></span></span><span class="TLline"><a href="/medgen/330750" ref="tree=GTR&ncbi_uid=330750&link_uid=330750" title="View MedGen record for 'Anterior segment dysgenesis 4'">Anterior segment dysgenesis 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310623[DISCUI]&test_type=Clinical" ref="ncbi_uid=934590">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934590" target="_blank" href="/omim/601771">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934590" ref="ncbi_uid=934590">V</a></span></span><span class="TLline"><a href="/medgen/934590" ref="tree=GTR&ncbi_uid=934590&link_uid=934590" title="View MedGen record for 'Anterior segment dysgenesis 6'">Anterior segment dysgenesis 6</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151617[DISCUI]&test_type=Clinical" ref="ncbi_uid=462967">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462967" target="_blank" href="/omim/269400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462967" ref="ncbi_uid=462967">V</a></span></span><span class="TLline">Anterior segment dysgenesis 7</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310622[DISCUI]&test_type=Clinical" ref="ncbi_uid=934589">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934589" target="_blank" href="/omim/608841">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934589" ref="ncbi_uid=934589">V</a></span></span><span class="TLline"><a href="/medgen/934589" ref="tree=GTR&ncbi_uid=934589&link_uid=934589" title="View MedGen record for 'Anterior segment dysgenesis 8'">Anterior segment dysgenesis 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853230[DISCUI]&test_type=Clinical" ref="ncbi_uid=339935">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1853230[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=339935">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339935" target="_blank" href="/omim/601094">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339935" ref="ncbi_uid=339935">V</a></span></span><span class="TLline"><a href="/medgen/339935" ref="tree=GTR&ncbi_uid=339935&link_uid=339935" title="View MedGen record for 'Congenital primary aphakia'">Congenital primary aphakia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0344559[DISCUI]&test_type=Clinical" ref="ncbi_uid=91031">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0344559[DISCUI]&test_type=Research" ref="ncbi_uid=91031">R</a></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=91031" ref="ncbi_uid=91031">V</a></span></span><span class="TLline"><a href="/medgen/91031" ref="tree=GTR&ncbi_uid=91031&link_uid=91031" title="View MedGen record for 'Irido-corneo-trabecular dysgenesis'">Irido-corneo-trabecular dysgenesis</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/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/870894" ref="tree=MeSH" title="MedGen record for Abnormal anterior eye segment morphology">Abnormal anterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/350766" ref="tree=MeSH" title="MedGen record for Anterior segment dysgenesis">Anterior segment dysgenesis</a></span><ul><li><span class="matched_ds">Anterior segment dysgenesis 7</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34261964">Cleft Lip and Palate Midfacial Hypoplasia: Criteria to Choose the Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fariña R,
|
||
Lolas J,
|
||
Moreno E,
|
||
Alister JP,
|
||
Uribe MF,
|
||
Pantoja R,
|
||
Valladares S,
|
||
Arrué C</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2022 Mar-Apr 01;33(2):496-501.
|
||
doi: 10.1097/SCS.0000000000007973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34261964" target="_blank">34261964</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34304165">Red reflex test screening for neonates: A systematic review and meta analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taksande A,
|
||
Jameel PZ,
|
||
Taksande B,
|
||
Meshram R</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2021 Aug;69(8):1994-2003.
|
||
doi: 10.4103/ijo.IJO_3632_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34304165" target="_blank">34304165</a><a href="/pmc/articles/PMC8482932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29136273">FOXE3 mutations: genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plaisancié J,
|
||
Ragge NK,
|
||
Dollfus H,
|
||
Kaplan J,
|
||
Lehalle D,
|
||
Francannet C,
|
||
Morin G,
|
||
Colineaux H,
|
||
Calvas P,
|
||
Chassaing N</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Apr;93(4):837-845.
|
||
doi: 10.1111/cge.13177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29136273" target="_blank">29136273</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(anterior%20segment%20dysgenesis%207)%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 (19)</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/38413945">Myocardial bridging in obstructive hypertrophic cardiomyopathy: a risk factor for myocardial fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song C,
|
||
Wang S,
|
||
Guo X,
|
||
Huang M,
|
||
Zheng X,
|
||
Lu J,
|
||
Ji K,
|
||
Zhao S,
|
||
Cui J,
|
||
Wang S,
|
||
Huang X</span><br />
|
||
<span class="medgenPMjournal">BMC Med</span>
|
||
2024 Feb 27;22(1):86.
|
||
doi: 10.1186/s12916-024-03301-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38413945" target="_blank">38413945</a><a href="/pmc/articles/PMC10900667" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791109">Anterior segment dysgenesis: Insights into the genetics and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaushik S,
|
||
Dubey S,
|
||
Choudhary S,
|
||
Ratna R,
|
||
Pandav SS,
|
||
Khan AO</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2293-2303.
|
||
doi: 10.4103/ijo.IJO_3223_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791109" target="_blank">35791109</a><a href="/pmc/articles/PMC9426159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34289336">In Vivo Imaging of the Schlemm's Canal and the Response to Selective Laser Trabeculoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varshney T,
|
||
Azmira K,
|
||
Gupta S,
|
||
Mahalingam K,
|
||
Singh A,
|
||
Angmo D,
|
||
Gupta V</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2022 Feb;234:126-137.
|
||
Epub 2021 Jul 18
|
||
doi: 10.1016/j.ajo.2021.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34289336" target="_blank">34289336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831741">Axenfeld-Rieger syndrome (ARS): A review and case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waldron JM,
|
||
McNamara C,
|
||
Hewson AR,
|
||
McNamara CM</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2010 Sep-Oct;30(5):218-22.
|
||
Epub 2010 Aug 17
|
||
doi: 10.1111/j.1754-4505.2010.00153.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831741" target="_blank">20831741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10893071">Ocular manifestations of incontinentia pigmenti.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holmström G,
|
||
Thorén K</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
|
||
2000 Jun;78(3):348-53.
|
||
doi: 10.1034/j.1600-0420.2000.078003348.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10893071" target="_blank">10893071</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20segment%20dysgenesis%207%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 (300)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37225607">Axenfeld-Rieger anomaly with slit pupils.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shakrawal J,
|
||
Bhatnagar KR,
|
||
Agarwal N</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2023 Sep;46(7):829-830.
|
||
Epub 2023 May 22
|
||
doi: 10.1016/j.jfo.2022.12.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37225607" target="_blank">37225607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36543336">Cardiac anomalies in Axenfeld-Rieger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valikodath N,
|
||
Johns JA,
|
||
Godown J</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2023 Jul;33(7):1229-1231.
|
||
Epub 2022 Dec 22
|
||
doi: 10.1017/S1047951122003857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36543336" target="_blank">36543336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791189">A rare case of unilateral anterior segment dysgenesis and limb deformity in a neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadhwani M,
|
||
Kursange S,
|
||
Jajoo M</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2653.
|
||
doi: 10.4103/ijo.IJO_58_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791189" target="_blank">35791189</a><a href="/pmc/articles/PMC9426178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31509019">Preeclampsia-Associated Multivessel Spontaneous Coronary Artery Dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seecheran RV,
|
||
Kawall J,
|
||
Ramadhin D,
|
||
Seecheran VK,
|
||
Persad SA,
|
||
Lalla SS,
|
||
Seecheran NA</span><br />
|
||
<span class="medgenPMjournal">J Investig Med High Impact Case Rep</span>
|
||
2019 Jan-Dec;7:2324709619874624.
|
||
doi: 10.1177/2324709619874624.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31509019" target="_blank">31509019</a><a href="/pmc/articles/PMC6740047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29122822">Posterior keratoconus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silas MR,
|
||
Hilkert SM,
|
||
Reidy JJ,
|
||
Farooq AV</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2018 Jul;102(7):863-867.
|
||
Epub 2017 Nov 9
|
||
doi: 10.1136/bjophthalmol-2017-311097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29122822" target="_blank">29122822</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20segment%20dysgenesis%207%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 (260)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35001688">Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magan T,
|
||
Tanner A,
|
||
Fajardo-Sanchez J,
|
||
Lim KS,
|
||
Goyal S,
|
||
Rodrigues I,
|
||
Amaya L,
|
||
Trikha S,
|
||
Kulkarni A,
|
||
Hammond C,
|
||
Lascaratos G,
|
||
Yu-Wai-Man C</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2022 Sep;32(5):2920-2927.
|
||
Epub 2022 Jan 10
|
||
doi: 10.1177/11206721211073208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35001688" target="_blank">35001688</a><a href="/pmc/articles/PMC9373187" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34304165">Red reflex test screening for neonates: A systematic review and meta analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taksande A,
|
||
Jameel PZ,
|
||
Taksande B,
|
||
Meshram R</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2021 Aug;69(8):1994-2003.
|
||
doi: 10.4103/ijo.IJO_3632_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34304165" target="_blank">34304165</a><a href="/pmc/articles/PMC8482932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30148778">Abandoning the Supraorbital Bandeau in Anterior Craniosynostosis Repairs, for a Single-Segment Reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fearon JA,
|
||
Ditthakasem K,
|
||
Garcia JC,
|
||
Herbert M</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2018 Sep;142(3):334e-341e.
|
||
doi: 10.1097/PRS.0000000000004649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30148778" target="_blank">30148778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29510829">Headache and Eye Pain in a Patient With Unusual Facial Morphology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frings A,
|
||
Schargus M</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2018 Feb 16;115(7):116.
|
||
doi: 10.3238/arztebl.2018.0116a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29510829" target="_blank">29510829</a><a href="/pmc/articles/PMC5842351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831741">Axenfeld-Rieger syndrome (ARS): A review and case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waldron JM,
|
||
McNamara C,
|
||
Hewson AR,
|
||
McNamara CM</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2010 Sep-Oct;30(5):218-22.
|
||
Epub 2010 Aug 17
|
||
doi: 10.1111/j.1754-4505.2010.00153.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831741" target="_blank">20831741</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20segment%20dysgenesis%207%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (71)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38413945">Myocardial bridging in obstructive hypertrophic cardiomyopathy: a risk factor for myocardial fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song C,
|
||
Wang S,
|
||
Guo X,
|
||
Huang M,
|
||
Zheng X,
|
||
Lu J,
|
||
Ji K,
|
||
Zhao S,
|
||
Cui J,
|
||
Wang S,
|
||
Huang X</span><br />
|
||
<span class="medgenPMjournal">BMC Med</span>
|
||
2024 Feb 27;22(1):86.
|
||
doi: 10.1186/s12916-024-03301-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38413945" target="_blank">38413945</a><a href="/pmc/articles/PMC10900667" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34289336">In Vivo Imaging of the Schlemm's Canal and the Response to Selective Laser Trabeculoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Varshney T,
|
||
Azmira K,
|
||
Gupta S,
|
||
Mahalingam K,
|
||
Singh A,
|
||
Angmo D,
|
||
Gupta V</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2022 Feb;234:126-137.
|
||
Epub 2021 Jul 18
|
||
doi: 10.1016/j.ajo.2021.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34289336" target="_blank">34289336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20831741">Axenfeld-Rieger syndrome (ARS): A review and case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waldron JM,
|
||
McNamara C,
|
||
Hewson AR,
|
||
McNamara CM</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2010 Sep-Oct;30(5):218-22.
|
||
Epub 2010 Aug 17
|
||
doi: 10.1111/j.1754-4505.2010.00153.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20831741" target="_blank">20831741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17933313">The frequency and clinical significance of congenital defects of the posterior and anterior arch of the atlas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senoglu M,
|
||
Safavi-Abbasi S,
|
||
Theodore N,
|
||
Bambakidis NC,
|
||
Crawford NR,
|
||
Sonntag VK</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2007 Oct;7(4):399-402.
|
||
doi: 10.3171/SPI-07/10/399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17933313" target="_blank">17933313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10893071">Ocular manifestations of incontinentia pigmenti.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holmström G,
|
||
Thorén K</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
|
||
2000 Jun;78(3):348-53.
|
||
doi: 10.1034/j.1600-0420.2000.078003348.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10893071" target="_blank">10893071</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20segment%20dysgenesis%207%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (165)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30683123">Tracheal suspension with autogenous rib cartilage in a patient with severe tracheomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Zhu J,
|
||
Zhao G,
|
||
Li S</span><br />
|
||
<span class="medgenPMjournal">J Cardiothorac Surg</span>
|
||
2019 Jan 25;14(1):21.
|
||
doi: 10.1186/s13019-019-0840-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30683123" target="_blank">30683123</a><a href="/pmc/articles/PMC6347841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29524626">Altered organization of the visual cortex in FHONDA syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmadi K,
|
||
Fracasso A,
|
||
van Dijk JA,
|
||
Kruijt C,
|
||
van Genderen M,
|
||
Dumoulin SO,
|
||
Hoffmann MB</span><br />
|
||
<span class="medgenPMjournal">Neuroimage</span>
|
||
2019 Apr 15;190:224-231.
|
||
Epub 2018 Mar 8
|
||
doi: 10.1016/j.neuroimage.2018.02.053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29524626" target="_blank">29524626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27009473">Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seifi M,
|
||
Footz T,
|
||
Taylor SA,
|
||
Elhady GM,
|
||
Abdalla EM,
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||
Walter MA</span><br />
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||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2016 Nov;94(7):e571-e579.
|
||
Epub 2016 Mar 24
|
||
doi: 10.1111/aos.13030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27009473" target="_blank">27009473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21120611">Contrast-enhanced whole-heart coronary MRA at 3.0T for the evaluation of cardiac venous anatomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma H,
|
||
Tang Q,
|
||
Yang Q,
|
||
Bi X,
|
||
Li H,
|
||
Ge L,
|
||
Lin K,
|
||
Xu D,
|
||
Du X,
|
||
Lu J,
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||
An J,
|
||
Jin L,
|
||
Jerecic R,
|
||
Li K,
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||
Li D</span><br />
|
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<span class="medgenPMjournal">Int J Cardiovasc Imaging</span>
|
||
2011 Oct;27(7):1003-9.
|
||
Epub 2010 Dec 1
|
||
doi: 10.1007/s10554-010-9757-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21120611" target="_blank">21120611</a><a href="/pmc/articles/PMC3182318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20385946">Ophthalmological features associated with COL4A1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coupry I,
|
||
Sibon I,
|
||
Mortemousque B,
|
||
Rouanet F,
|
||
Mine M,
|
||
Goizet C</span><br />
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||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
2010 Apr;128(4):483-9.
|
||
doi: 10.1001/archophthalmol.2010.42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20385946" target="_blank">20385946</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20segment%20dysgenesis%207%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 (157)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38350011">Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmoud A,
|
||
Pomar L,
|
||
Lambert V,
|
||
Picone O,
|
||
Hcini N</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2024 Nov;32(9):2217-2227.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1080/09273948.2024.2314086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38350011" target="_blank">38350011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36941760">Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le H,
|
||
Jin E,
|
||
Jewell A,
|
||
Jackson-Cook C,
|
||
Haskell GT,
|
||
Couser N</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Jun;191(6):1639-1645.
|
||
Epub 2023 Mar 20
|
||
doi: 10.1002/ajmg.a.63186.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36941760" target="_blank">36941760</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34304165">Red reflex test screening for neonates: A systematic review and meta analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taksande A,
|
||
Jameel PZ,
|
||
Taksande B,
|
||
Meshram R</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2021 Aug;69(8):1994-2003.
|
||
doi: 10.4103/ijo.IJO_3632_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34304165" target="_blank">34304165</a><a href="/pmc/articles/PMC8482932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27522615">Systematic review and meta-analysis of congenitally missing permanent dentition: Sex dimorphism, occurrence patterns, associated factors and biasing factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rakhshan V,
|
||
Rakhshan A</span><br />
|
||
<span class="medgenPMjournal">Int Orthod</span>
|
||
2016 Sep;14(3):273-94.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1016/j.ortho.2016.07.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27522615" target="_blank">27522615</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Anterior%20segment%20dysgenesis%207%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3151617%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151617%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151617%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151617%5bDISCUI%5d" target="_blank">See all (22)</a></total></li>
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||
</ul></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=269400" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=289499" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Anterior%20segment%20dysgenesis%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(anterior%20segment%20dysgenesis%207)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605158" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7837[geneid]" target="_blank">View PXDN variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=269400" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/anterior_segment_dysgenesis_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Anterior%20segment%20dysgenesis%207" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17327/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Anterior%20segment%20dysgenesis%207" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Anterior%20segment%20dysgenesis%207%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=462967" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=462967" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3151617[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3151617[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=462967" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=462967" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=462967" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=462967" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=462967" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Recent activity</h3>
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<div id="HTDisplay" class="">
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<div class="action">
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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