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<meta name="keywords" content="C0085280, ahd, alagille syndrome, alagille watson syndrome, alagille's syndrome, alagille-watson syndrome, alagilles syndrome, algs, arteriohepatic dysplasia, arteriohepatic dysplasia (ahd), aws, cardiovertebral syndrome, cholestasis with peripheral pulmonary stenosis, congenital abnormality, dysplasia, arteriohepatic, dysplasia, arteriohepatic (ahd), hepatic ductular hypoplasia, hepatic ductular hypoplasia, syndromatic, hepatofacioneurocardiovertebral syndrome, paucity of interlobular bile ducts, syndrome, alagille, syndrome, alagille watson, syndrome, alagille's, syndrome, alagille-watson, syndrome, cardiovertebral, syndrome, hepatofacioneurocardiovertebral, syndrome, watson alagille, syndrome, watson miller, syndrome, watson-miller, syndromic bile duct paucity, watson alagille syndrome, watson miller syndrome, watson-alagille syndrome, watson-miller syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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UID=39014
|
||
ConceptID=C0085280
|
||
-->
|
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1273/bin/alagille-Image001.gif" src-large="/books/NBK1273/bin/alagille-Image001.jpg" /></a><br /><a href="/books/NBK1273/figure/alagille.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Arteriohepatic dysplasia<span class="h1sub">(AWS; ALGS; AHD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39014</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:">C0085280</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Alagille syndrome; Cardiovertebral syndrome; Hepatofacioneurocardiovertebral syndrome; Watson-Miller syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Arteriohepatic dysplasia (31742004); Alagille syndrome (31742004); Watson-Alagille syndrome (31742004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/4853">NOTCH2</a>, <a target="_blank" href="/gene/182">JAG1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007318" target="_blank">MONDO:0007318</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/118450" target="_blank">118450</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS118450" target="_blank">PS118450</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=52">ORPHA52</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1273" target="_blank">Alagille Syndrome</a></div><div>Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1273#alagille.Summary" target="NBK1273">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Diagnosis" target="NBK1273">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Clinical_Characteristics" target="NBK1273">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Genetically_Related_Allelic_Dis" target="NBK1273">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Differential_Diagnosis" target="NBK1273">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Management" target="NBK1273">Management</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Genetic_Counseling" target="NBK1273">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Resources" target="NBK1273">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Molecular_Genetics" target="NBK1273">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.Chapter_Notes" target="NBK1273">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1273#alagille.References" target="NBK1273">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Nancy B Spinner | Kathleen M Loomes | Ian D Krantz<i>, et. al.</i> <a href="/books/NBK1273" target="NBK1273" title="NCBI Bookshelf: Alagille Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).
|
||
Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome.
|
||
Genetic Heterogeneity of Alagille Syndrome
|
||
Another form of Alagille syndrome (ALGS2; 610205) is caused by mutation in the NOTCH2 gene (600275). <a target="_blank" href="http://www.omim.org/entry/118450">http://www.omim.org/entry/118450</a></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><li><a href="#tabORDO">Orphanet</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=C0085280[DISCUI]&test_type=Clinical" ref="ncbi_uid=39014">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=39014" target="_blank" href="/omim/118450">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1273/" ref="ncbi_uid=39014">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=39014" ref="ncbi_uid=39014">V</a></span></span><span class="TLline">Arteriohepatic dysplasia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1956125[DISCUI]&test_type=Clinical" ref="ncbi_uid=365434">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=365434" target="_blank" href="/omim/118450">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1273/" ref="ncbi_uid=365434">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=365434" ref="ncbi_uid=365434">V</a></span></span><span class="TLline"><a href="/medgen/365434" ref="tree=GTR&ncbi_uid=365434&link_uid=365434" title="View MedGen record for 'Alagille syndrome due to a JAG1 point mutation'">Alagille syndrome due to a JAG1 point mutation</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=C1857761[DISCUI]&test_type=Clinical" ref="ncbi_uid=341844">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341844" target="_blank" href="/omim/600275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1273/" ref="ncbi_uid=341844">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341844" ref="ncbi_uid=341844">V</a></span></span><span class="TLline"><a href="/medgen/341844" ref="tree=GTR&ncbi_uid=341844&link_uid=341844" title="View MedGen record for 'Alagille syndrome due to a NOTCH2 point mutation'">Alagille syndrome due to a NOTCH2 point mutation</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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="matched_ds">Arteriohepatic dysplasia</span><ul><li><span class="TLline"><a href="/medgen/1826025" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to 20p12 microdeletion">Alagille syndrome due to 20p12 microdeletion</a></span></li><li><span class="TLline"><a href="/medgen/365434" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a JAG1 point mutation">Alagille syndrome due to a JAG1 point mutation</a></span></li><li><span class="TLline"><a href="/medgen/341844" ref="tree=MeSH" title="MedGen record for Alagille syndrome due to a NOTCH2 point mutation">Alagille syndrome due to a NOTCH2 point mutation</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=253&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Arteriohepatic dysplasia</span> in Orphanet.</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/21934706">Alagille syndrome: pathogenesis, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turnpenny PD,
|
||
Ellard S</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Mar;20(3):251-7.
|
||
Epub 2011 Sep 21
|
||
doi: 10.1038/ejhg.2011.181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21934706" target="_blank">21934706</a><a href="/pmc/articles/PMC3283172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3371608">Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitington PF,
|
||
Whitington GL</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
1988 Jul;95(1):130-6.
|
||
doi: 10.1016/0016-5085(88)90301-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3371608" target="_blank">3371608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6822377">Arteriohepatic dysplasia. I. Pitfalls in diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markowitz J,
|
||
Daum F,
|
||
Kahn EI,
|
||
Schneider KM,
|
||
So HB,
|
||
Altman RP,
|
||
Aiges HW,
|
||
Alperstein G,
|
||
Silverberg M</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
1983 Jan-Feb;3(1):74-6.
|
||
doi: 10.1002/hep.1840030112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6822377" target="_blank">6822377</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22arteriohepatic%20dysplasia%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 (3)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23881058">Clinical utility gene card for: Alagille Syndrome (ALGS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leonard LD,
|
||
Chao G,
|
||
Baker A,
|
||
Loomes K,
|
||
Spinner NB</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Mar;22(3)
|
||
Epub 2013 Jul 24
|
||
doi: 10.1038/ejhg.2013.140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23881058" target="_blank">23881058</a><a href="/pmc/articles/PMC3925268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/15481729">Progression of a posterior communicating artery infundibulum into an aneurysm in a patient with Alagille syndrome. Case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cowan JA Jr,
|
||
Barkhoudarian G,
|
||
Yang LJ,
|
||
Thompson BG</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2004 Oct;101(4):694-6.
|
||
doi: 10.3171/jns.2004.101.4.0694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15481729" target="_blank">15481729</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14994122">Biliary atresia revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahn E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2004 Mar-Apr;7(2):109-24.
|
||
Epub 2004 Mar 4
|
||
doi: 10.1007/s10024-003-0307-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14994122" target="_blank">14994122</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8501619">Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wells KK,
|
||
Pulido JS,
|
||
Judisch GF,
|
||
Ossoinig KC,
|
||
Fisher TC,
|
||
LaBrecque DR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1993 Mar-Apr;30(2):130-5.
|
||
doi: 10.3928/0191-3913-19930301-18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8501619" target="_blank">8501619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2990356">Long term prognosis for babies with neonatal liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deutsch J,
|
||
Smith AL,
|
||
Danks DM,
|
||
Campbell PE</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1985 May;60(5):447-51.
|
||
doi: 10.1136/adc.60.5.447.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2990356" target="_blank">2990356</a><a href="/pmc/articles/PMC1777337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7076119">Arteriohepatic dysplasia in infancy and childhood: a longitudinal study of six patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dahms BB,
|
||
Petrelli M,
|
||
Wyllie R,
|
||
Henoch MS,
|
||
Halpin TC,
|
||
Morrison S,
|
||
Park MC,
|
||
Tavill AS</span><br />
|
||
<span class="medgenPMjournal">Hepatology</span>
|
||
1982 May-Jun;2(3):350-8.
|
||
doi: 10.1002/hep.1840020311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7076119" target="_blank">7076119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arteriohepatic%20dysplasia%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34213023">Alagille syndrome: Oral manifestations-A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anacleto MA,
|
||
Melo CFR,
|
||
Oliveira RP,
|
||
da Silva LCP,
|
||
Taitson PF</span><br />
|
||
<span class="medgenPMjournal">Spec Care Dentist</span>
|
||
2021 Nov;41(6):741-749.
|
||
Epub 2021 Jul 2
|
||
doi: 10.1111/scd.12623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34213023" target="_blank">34213023</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21934706">Alagille syndrome: pathogenesis, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turnpenny PD,
|
||
Ellard S</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Mar;20(3):251-7.
|
||
Epub 2011 Sep 21
|
||
doi: 10.1038/ejhg.2011.181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21934706" target="_blank">21934706</a><a href="/pmc/articles/PMC3283172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11232356">Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crosnier C,
|
||
Lykavieris P,
|
||
Meunier-Rotival M,
|
||
Hadchouel M</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2000 Nov;4(4):765-78.
|
||
doi: 10.1016/s1089-3261(05)70140-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11232356" target="_blank">11232356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9039994">Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krantz ID,
|
||
Piccoli DA,
|
||
Spinner NB</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1997 Feb;34(2):152-7.
|
||
doi: 10.1136/jmg.34.2.152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9039994" target="_blank">9039994</a><a href="/pmc/articles/PMC1050871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3119852">The Alagille syndrome (arteriohepatic dysplasia).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mueller RF</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1987 Oct;24(10):621-6.
|
||
doi: 10.1136/jmg.24.10.621.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3119852" target="_blank">3119852</a><a href="/pmc/articles/PMC1050291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arteriohepatic%20dysplasia%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 (37)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9655315">Resolution of xanthomas in Alagille syndrome after liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buckley DA,
|
||
Higgins EM,
|
||
du Vivier AW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
1998 May-Jun;15(3):199-202.
|
||
doi: 10.1046/j.1525-1470.1998.1998015199.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9655315" target="_blank">9655315</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8953135">Use of ursodeoxycholic acid in the treatment of arteriohepatic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kay MH,
|
||
Wyllie R,
|
||
Steffen RM</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1996 Nov;35(11):593-6.
|
||
doi: 10.1177/000992289603501106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8953135" target="_blank">8953135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1497013">Long-term complications of arteriohepatic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwarzenberg SJ,
|
||
Grothe RM,
|
||
Sharp HL,
|
||
Snover DC,
|
||
Freese D</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
1992 Aug;93(2):171-6.
|
||
doi: 10.1016/0002-9343(92)90047-f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1497013" target="_blank">1497013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1482647">IgA nephritis in a patient with Alagille syndrome and a transplanted liver.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilboa N,
|
||
Hopp L,
|
||
Agostini RM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
1992 Nov;6(6):559-61.
|
||
doi: 10.1007/BF00866506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1482647" target="_blank">1482647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7072243">Arteriohepatic dysplasia: a 16-year follow-up during treatment with cholestyramine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flick AL</span><br />
|
||
<span class="medgenPMjournal">West J Med</span>
|
||
1982 Jan;136(1):62-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7072243" target="_blank">7072243</a><a href="/pmc/articles/PMC1273390" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arteriohepatic%20dysplasia%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11232356">Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crosnier C,
|
||
Lykavieris P,
|
||
Meunier-Rotival M,
|
||
Hadchouel M</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2000 Nov;4(4):765-78.
|
||
doi: 10.1016/s1089-3261(05)70140-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11232356" target="_blank">11232356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9890073">Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacMillan JC,
|
||
Shepherd R,
|
||
Heritage M</span><br />
|
||
<span class="medgenPMjournal">Baillieres Clin Gastroenterol</span>
|
||
1998 Jun;12(2):275-91.
|
||
doi: 10.1016/s0950-3528(98)90135-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9890073" target="_blank">9890073</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8501619">Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wells KK,
|
||
Pulido JS,
|
||
Judisch GF,
|
||
Ossoinig KC,
|
||
Fisher TC,
|
||
LaBrecque DR</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1993 Mar-Apr;30(2):130-5.
|
||
doi: 10.3928/0191-3913-19930301-18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8501619" target="_blank">8501619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2038547">Paucity of interlobular bile ducts. Arteriohepatic dysplasia and nonsyndromic duct paucity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahn E</span><br />
|
||
<span class="medgenPMjournal">Perspect Pediatr Pathol</span>
|
||
1991;14:168-215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2038547" target="_blank">2038547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2990356">Long term prognosis for babies with neonatal liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deutsch J,
|
||
Smith AL,
|
||
Danks DM,
|
||
Campbell PE</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1985 May;60(5):447-51.
|
||
doi: 10.1136/adc.60.5.447.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2990356" target="_blank">2990356</a><a href="/pmc/articles/PMC1777337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arteriohepatic%20dysplasia%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/7945552">The role of lipids in nephrosclerosis and glomerulosclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gröne EF,
|
||
Walli AK,
|
||
Gröne HJ,
|
||
Miller B,
|
||
Seidel D</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
1994 May;107(1):1-13.
|
||
doi: 10.1016/0021-9150(94)90136-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7945552" target="_blank">7945552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3806290">Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alagille D,
|
||
Estrada A,
|
||
Hadchouel M,
|
||
Gautier M,
|
||
Odièvre M,
|
||
Dommergues JP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1987 Feb;110(2):195-200.
|
||
doi: 10.1016/s0022-3476(87)80153-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3806290" target="_blank">3806290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3153318">Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Habib R,
|
||
Dommergues JP,
|
||
Gubler MC,
|
||
Hadchouel M,
|
||
Gautier M,
|
||
Odievre M,
|
||
Alagille D</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
1987 Jul;1(3):455-64.
|
||
doi: 10.1007/BF00849254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3153318" target="_blank">3153318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3740100">del(20p) with manifestations of arteriohepatic dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byrne JL,
|
||
Harrod MJ,
|
||
Friedman JM,
|
||
Howard-Peebles PN</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1986 Aug;24(4):673-8.
|
||
doi: 10.1002/ajmg.1320240411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3740100" target="_blank">3740100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6424981">Arteriohepatic dysplasia: phenotypic features and family studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mueller RF,
|
||
Pagon RA,
|
||
Pepin MG,
|
||
Haas JE,
|
||
Kawabori I,
|
||
Stevenson JG,
|
||
Stephan MJ,
|
||
Blumhagen JD,
|
||
Christie DL</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1984 Apr;25(4):323-31.
|
||
doi: 10.1111/j.1399-0004.1984.tb01998.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6424981" target="_blank">6424981</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arteriohepatic%20dysplasia%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 (13)</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 -->
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||
<div class="rightCol mgCol">
|
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<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=C0085280%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085280%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
||
<li><a href="/gtr/tests?term=C0085280%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0085280%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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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/phenotypicSeries/PS118450" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=52" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Arteriohepatic%20dysplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</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=(%22arteriohepatic%20dysplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Arteriohepatic%20dysplasia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//23881058/">EuroGentest, 2014</a><div>Clinical utility gene card for: Alagille Syndrome (ALGS).</div></li></ul></div>
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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/alagille_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Arteriohepatic%20dysplasia" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/804/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<div class="portlet brieflink">
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/20301450" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Arteriohepatic%20dysplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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</li>
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<li>
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<a href="/pubmed?term=Arteriohepatic%20dysplasia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=39014" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0085280[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0085280[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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</li>
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||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=39014" ref="log$=recordlinks">MeSH</a>
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