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<meta name="keywords" content="C1567741, alport deafness-nephropathy, alport hearing loss-nephropathy, alport syndrome, alport's syndrome, col4a3, col4a4, col4a5, congenital hereditary hematuria, disease or syndrome, hematuria nephropathy deafness syndrome, hematuria-nephropathy-deafness syndrome, hemorrhagic familial nephritis, hemorrhagic hereditary nephritis, hereditary nephritis, syndrome, alport, syndrome, hematuria-nephropathy-deafness, 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="Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.\n\nPeople with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).\n\nIn late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.\n\n" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=339209
|
||
ConceptID=C1567741
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Alport syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339209</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.">C1567741</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>Congenital hereditary hematuria; Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Alport syndrome (770414008)</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="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="divPopper rprt" id="moi_376232"><div><strong>X-linked dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376232</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.">C1847879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376232">This record</a></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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_376232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked dominant 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">Genes (locations):<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="COL4A3 - ID: 1285 - NCBI Gene" href="/gene/1285" class="medgenPMinfo">COL4A3</a> (2q36.3); <a target="_blank" title="COL4A4 - ID: 1286 - NCBI Gene" href="/gene/1286" class="medgenPMinfo">COL4A4</a> (2q36.3); <a target="_blank" title="COL4A5 - ID: 1287 - NCBI Gene" href="/gene/1287" class="medgenPMinfo">COL4A5</a> (Xq22.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018965" target="_blank">MONDO:0018965</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS301050" target="_blank">PS301050</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=63">ORPHA63</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.<br /><br />People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).<br /><br />In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.<br /><br /> [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN076135[DISCUI]&test_type=Clinical" ref="ncbi_uid=449510">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=449510">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/449510" ref="tree=GTR&ncbi_uid=449510&link_uid=449510" title="View MedGen record for 'Collagen IV-related nephropathies'">Collagen IV-related nephropathies</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1567741[DISCUI]&test_type=Clinical" ref="ncbi_uid=339209">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339209" ref="ncbi_uid=339209">V</a></span></span><span class="TLline">Alport syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5882663[DISCUI]&test_type=Clinical" ref="ncbi_uid=1848787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1848787" target="_blank" href="/omim/104200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1848787">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1848787" ref="ncbi_uid=1848787">V</a></span></span><span class="TLline"><a href="/medgen/1848787" ref="tree=GTR&ncbi_uid=1848787&link_uid=1848787" title="View MedGen record for 'Autosomal dominant Alport syndrome'">Autosomal dominant Alport syndrome</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=C4746745[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648334">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648334" target="_blank" href="/omim/120131">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648334">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648334" ref="ncbi_uid=1648334">V</a></span></span><span class="TLline"><a href="/medgen/1648334" ref="tree=GTR&ncbi_uid=1648334&link_uid=1648334" title="View MedGen record for 'Autosomal recessive Alport syndrome'">Autosomal recessive Alport syndrome</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=C4746986[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648433">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648433" target="_blank" href="/omim/301050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1207/" ref="ncbi_uid=1648433">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648433" ref="ncbi_uid=1648433">V</a></span></span><span class="TLline"><a href="/medgen/1648433" ref="tree=GTR&ncbi_uid=1648433&link_uid=1648433" title="View MedGen record for 'X-linked Alport syndrome'">X-linked Alport syndrome</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0241908[DISCUI]&test_type=Clinical" ref="ncbi_uid=66039">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=66039" target="_blank" href="/omim/120131">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=66039" ref="ncbi_uid=66039">V</a></span></span><span class="TLline"><a href="/medgen/66039" ref="tree=GTR&ncbi_uid=66039&link_uid=66039" title="View MedGen record for 'Benign familial hematuria'">Benign familial hematuria</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1053162" ref="tree=GTR&ncbi_uid=1053162&link_uid=1053162" title="View MedGen record for 'Hematuria, benign familial, 1'">Hematuria, benign familial, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841057" target="_blank" href="/omim/120070">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=1841057" ref="ncbi_uid=1841057">V</a></span></span><span class="TLline"><a href="/medgen/1841057" ref="tree=GTR&ncbi_uid=1841057&link_uid=1841057" title="View MedGen record for 'Hematuria, benign familial, 2'">Hematuria, benign familial, 2</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/449510" ref="tree=MeSH" title="MedGen record for Collagen IV-related nephropathies">Collagen IV-related nephropathies</a></span><ul><li><span class="matched_ds">Alport syndrome</span><ul><li><span class="TLline"><a href="/medgen/1848787" ref="tree=MeSH" title="MedGen record for Autosomal dominant Alport syndrome">Autosomal dominant Alport syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648334" ref="tree=MeSH" title="MedGen record for Autosomal recessive Alport syndrome">Autosomal recessive Alport syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1648433" ref="tree=MeSH" title="MedGen record for X-linked Alport syndrome">X-linked Alport syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333429" ref="tree=MeSH" title="MedGen record for X-linked diffuse leiomyomatosis-Alport syndrome">X-linked diffuse leiomyomatosis-Alport syndrome</a></span></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=630&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Alport syndrome</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/34930753">Guidelines for Genetic Testing and Management of Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Lipska-Zietkiewicz BS,
|
||
Watson E,
|
||
Hertz JM,
|
||
Deltas C,
|
||
Mari F,
|
||
Hilbert P,
|
||
Plevova P,
|
||
Byers P,
|
||
Cerkauskaite A,
|
||
Gregory M,
|
||
Cerkauskiene R,
|
||
Ljubanovic DG,
|
||
Becherucci F,
|
||
Errichiello C,
|
||
Massella L,
|
||
Aiello V,
|
||
Lennon R,
|
||
Hopkinson L,
|
||
Koziell A,
|
||
Lungu A,
|
||
Rothe HM,
|
||
Hoefele J,
|
||
Zacchia M,
|
||
Martic TN,
|
||
Gupta A,
|
||
van Eerde A,
|
||
Gear S,
|
||
Landini S,
|
||
Palazzo V,
|
||
Al-Rabadi L,
|
||
Claes K,
|
||
Corveleyn A,
|
||
Van Hoof E,
|
||
van Geel M,
|
||
Williams M,
|
||
Ashton E,
|
||
Belge H,
|
||
Ars E,
|
||
Bierzynska A,
|
||
Gangemi C,
|
||
Renieri A,
|
||
Storey H,
|
||
Flinter F</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2022 Jan;17(1):143-154.
|
||
Epub 2021 Dec 20
|
||
doi: 10.2215/CJN.04230321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34930753" target="_blank">34930753</a><a href="/pmc/articles/PMC8763160" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32712016">Alport Syndrome: Achieving Early Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Feb;77(2):272-279.
|
||
Epub 2020 Jul 22
|
||
doi: 10.1053/j.ajkd.2020.03.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32712016" target="_blank">32712016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29987460">Expert consensus guidelines for the genetic diagnosis of Alport syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Ariani F,
|
||
Mari F,
|
||
Bruttini M,
|
||
Renieri A,
|
||
Gross O,
|
||
Deltas C,
|
||
Flinter F,
|
||
Ding J,
|
||
Gale DP,
|
||
Nagel M,
|
||
Yau M,
|
||
Shagam L,
|
||
Torra R,
|
||
Ars E,
|
||
Hoefele J,
|
||
Garosi G,
|
||
Storey H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2019 Jul;34(7):1175-1189.
|
||
Epub 2018 Jul 9
|
||
doi: 10.1007/s00467-018-3985-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29987460" target="_blank">29987460</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22alport%20syndrome%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 (68)</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/35675912">Digenic Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Renieri A,
|
||
Ars E,
|
||
Daga S,
|
||
Pinto AM,
|
||
Rothe H,
|
||
Gale DP,
|
||
Aksenova M,
|
||
Cerkauskaite A,
|
||
Bielska O,
|
||
Lipska-Zietkiewicz B,
|
||
Gibson JT</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2022 Nov;17(11):1697-1706.
|
||
Epub 2022 Jun 8
|
||
doi: 10.2215/CJN.03120322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35675912" target="_blank">35675912</a><a href="/pmc/articles/PMC9718039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34930753">Guidelines for Genetic Testing and Management of Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Lipska-Zietkiewicz BS,
|
||
Watson E,
|
||
Hertz JM,
|
||
Deltas C,
|
||
Mari F,
|
||
Hilbert P,
|
||
Plevova P,
|
||
Byers P,
|
||
Cerkauskaite A,
|
||
Gregory M,
|
||
Cerkauskiene R,
|
||
Ljubanovic DG,
|
||
Becherucci F,
|
||
Errichiello C,
|
||
Massella L,
|
||
Aiello V,
|
||
Lennon R,
|
||
Hopkinson L,
|
||
Koziell A,
|
||
Lungu A,
|
||
Rothe HM,
|
||
Hoefele J,
|
||
Zacchia M,
|
||
Martic TN,
|
||
Gupta A,
|
||
van Eerde A,
|
||
Gear S,
|
||
Landini S,
|
||
Palazzo V,
|
||
Al-Rabadi L,
|
||
Claes K,
|
||
Corveleyn A,
|
||
Van Hoof E,
|
||
van Geel M,
|
||
Williams M,
|
||
Ashton E,
|
||
Belge H,
|
||
Ars E,
|
||
Bierzynska A,
|
||
Gangemi C,
|
||
Renieri A,
|
||
Storey H,
|
||
Flinter F</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2022 Jan;17(1):143-154.
|
||
Epub 2021 Dec 20
|
||
doi: 10.2215/CJN.04230321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34930753" target="_blank">34930753</a><a href="/pmc/articles/PMC8763160" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32712016">Alport Syndrome: Achieving Early Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Feb;77(2):272-279.
|
||
Epub 2020 Jul 22
|
||
doi: 10.1053/j.ajkd.2020.03.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32712016" target="_blank">32712016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29551517">Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE,
|
||
Ding J,
|
||
Garosi G,
|
||
Heidet L,
|
||
Massella L,
|
||
Nakanishi K,
|
||
Nozu K,
|
||
Renieri A,
|
||
Rheault M,
|
||
Wang F,
|
||
Gross O</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2018 May;93(5):1045-1051.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.kint.2017.12.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29551517" target="_blank">29551517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28515156">Anti-Glomerular Basement Membrane Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McAdoo SP,
|
||
Pusey CD</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jul 7;12(7):1162-1172.
|
||
Epub 2017 May 17
|
||
doi: 10.2215/CJN.01380217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28515156" target="_blank">28515156</a><a href="/pmc/articles/PMC5498345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alport%20syndrome%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 (306)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729281">Inherited Fanconi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albuquerque ALB,
|
||
Dos Santos Borges R,
|
||
Conegundes AF,
|
||
Dos Santos EE,
|
||
Fu FMM,
|
||
Araujo CT,
|
||
Vaz de Castro PAS,
|
||
Simões E Silva AC</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Jul;19(7):619-634.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1007/s12519-023-00685-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729281" target="_blank">36729281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36252931">Anti-glomerular basement membrane vasculitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponticelli C,
|
||
Calatroni M,
|
||
Moroni G</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2023 Jan;22(1):103212.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1016/j.autrev.2022.103212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36252931" target="_blank">36252931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34930753">Guidelines for Genetic Testing and Management of Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Lipska-Zietkiewicz BS,
|
||
Watson E,
|
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Hertz JM,
|
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Deltas C,
|
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Mari F,
|
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Hilbert P,
|
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Plevova P,
|
||
Byers P,
|
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Cerkauskaite A,
|
||
Gregory M,
|
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Cerkauskiene R,
|
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Ljubanovic DG,
|
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Becherucci F,
|
||
Errichiello C,
|
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Massella L,
|
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Aiello V,
|
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Lennon R,
|
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Hopkinson L,
|
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Koziell A,
|
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Lungu A,
|
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Rothe HM,
|
||
Hoefele J,
|
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Zacchia M,
|
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Martic TN,
|
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Gupta A,
|
||
van Eerde A,
|
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Gear S,
|
||
Landini S,
|
||
Palazzo V,
|
||
Al-Rabadi L,
|
||
Claes K,
|
||
Corveleyn A,
|
||
Van Hoof E,
|
||
van Geel M,
|
||
Williams M,
|
||
Ashton E,
|
||
Belge H,
|
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Ars E,
|
||
Bierzynska A,
|
||
Gangemi C,
|
||
Renieri A,
|
||
Storey H,
|
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Flinter F</span><br />
|
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<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2022 Jan;17(1):143-154.
|
||
Epub 2021 Dec 20
|
||
doi: 10.2215/CJN.04230321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34930753" target="_blank">34930753</a><a href="/pmc/articles/PMC8763160" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32712016">Alport Syndrome: Achieving Early Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Feb;77(2):272-279.
|
||
Epub 2020 Jul 22
|
||
doi: 10.1053/j.ajkd.2020.03.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32712016" target="_blank">32712016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29551517">Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE,
|
||
Ding J,
|
||
Garosi G,
|
||
Heidet L,
|
||
Massella L,
|
||
Nakanishi K,
|
||
Nozu K,
|
||
Renieri A,
|
||
Rheault M,
|
||
Wang F,
|
||
Gross O</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2018 May;93(5):1045-1051.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.kint.2017.12.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29551517" target="_blank">29551517</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alport%20syndrome%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 (575)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37931634">Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rovin BH,
|
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Barratt J,
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Heerspink HJL,
|
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Alpers CE,
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Bieler S,
|
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Chae DW,
|
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Diva UA,
|
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Floege J,
|
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Gesualdo L,
|
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Inrig JK,
|
||
Kohan DE,
|
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Komers R,
|
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Kooienga LA,
|
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Lafayette R,
|
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Maes B,
|
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Małecki R,
|
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Mercer A,
|
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Noronha IL,
|
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Oh SW,
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Peh CA,
|
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Praga M,
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Preciado P,
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Radhakrishnan J,
|
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Rheault MN,
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Rote WE,
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Tang SCW,
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Tesar V,
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Trachtman H,
|
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Trimarchi H,
|
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Tumlin JA,
|
||
Wong MG,
|
||
Perkovic V;
|
||
DUPRO steering committee and PROTECT Investigators</span><br />
|
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<span class="medgenPMjournal">Lancet</span>
|
||
2023 Dec 2;402(10417):2077-2090.
|
||
Epub 2023 Nov 3
|
||
doi: 10.1016/S0140-6736(23)02302-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37931634" target="_blank">37931634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36252931">Anti-glomerular basement membrane vasculitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponticelli C,
|
||
Calatroni M,
|
||
Moroni G</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2023 Jan;22(1):103212.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1016/j.autrev.2022.103212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36252931" target="_blank">36252931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33772369">Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Böckhaus J,
|
||
Wang F,
|
||
Wang S,
|
||
Rubel D,
|
||
Gross O,
|
||
Ding J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2021 Sep;36(9):2719-2730.
|
||
Epub 2021 Mar 27
|
||
doi: 10.1007/s00467-021-05040-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33772369" target="_blank">33772369</a><a href="/pmc/articles/PMC8370956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32712016">Alport Syndrome: Achieving Early Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Feb;77(2):272-279.
|
||
Epub 2020 Jul 22
|
||
doi: 10.1053/j.ajkd.2020.03.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32712016" target="_blank">32712016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28515156">Anti-Glomerular Basement Membrane Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McAdoo SP,
|
||
Pusey CD</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jul 7;12(7):1162-1172.
|
||
Epub 2017 May 17
|
||
doi: 10.2215/CJN.01380217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28515156" target="_blank">28515156</a><a href="/pmc/articles/PMC5498345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alport%20syndrome%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 (149)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39004457">Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chavez E,
|
||
Goncalves S,
|
||
Rheault MN,
|
||
Fornoni A</span><br />
|
||
<span class="medgenPMjournal">Adv Kidney Dis Health</span>
|
||
2024 May;31(3):170-179.
|
||
doi: 10.1053/j.akdh.2024.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39004457" target="_blank">39004457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729281">Inherited Fanconi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albuquerque ALB,
|
||
Dos Santos Borges R,
|
||
Conegundes AF,
|
||
Dos Santos EE,
|
||
Fu FMM,
|
||
Araujo CT,
|
||
Vaz de Castro PAS,
|
||
Simões E Silva AC</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2023 Jul;19(7):619-634.
|
||
Epub 2023 Feb 2
|
||
doi: 10.1007/s12519-023-00685-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729281" target="_blank">36729281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35675912">Digenic Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Renieri A,
|
||
Ars E,
|
||
Daga S,
|
||
Pinto AM,
|
||
Rothe H,
|
||
Gale DP,
|
||
Aksenova M,
|
||
Cerkauskaite A,
|
||
Bielska O,
|
||
Lipska-Zietkiewicz B,
|
||
Gibson JT</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2022 Nov;17(11):1697-1706.
|
||
Epub 2022 Jun 8
|
||
doi: 10.2215/CJN.03120322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35675912" target="_blank">35675912</a><a href="/pmc/articles/PMC9718039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29551517">Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE,
|
||
Ding J,
|
||
Garosi G,
|
||
Heidet L,
|
||
Massella L,
|
||
Nakanishi K,
|
||
Nozu K,
|
||
Renieri A,
|
||
Rheault M,
|
||
Wang F,
|
||
Gross O</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2018 May;93(5):1045-1051.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.kint.2017.12.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29551517" target="_blank">29551517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28515156">Anti-Glomerular Basement Membrane Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McAdoo SP,
|
||
Pusey CD</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jul 7;12(7):1162-1172.
|
||
Epub 2017 May 17
|
||
doi: 10.2215/CJN.01380217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28515156" target="_blank">28515156</a><a href="/pmc/articles/PMC5498345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alport%20syndrome%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 (251)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35675912">Digenic Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Renieri A,
|
||
Ars E,
|
||
Daga S,
|
||
Pinto AM,
|
||
Rothe H,
|
||
Gale DP,
|
||
Aksenova M,
|
||
Cerkauskaite A,
|
||
Bielska O,
|
||
Lipska-Zietkiewicz B,
|
||
Gibson JT</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2022 Nov;17(11):1697-1706.
|
||
Epub 2022 Jun 8
|
||
doi: 10.2215/CJN.03120322.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35675912" target="_blank">35675912</a><a href="/pmc/articles/PMC9718039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33838161">Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furlano M,
|
||
Martínez V,
|
||
Pybus M,
|
||
Arce Y,
|
||
Crespí J,
|
||
Venegas MDP,
|
||
Bullich G,
|
||
Domingo A,
|
||
Ayasreh N,
|
||
Benito S,
|
||
Lorente L,
|
||
Ruíz P,
|
||
Gonzalez VL,
|
||
Arlandis R,
|
||
Cabello E,
|
||
Torres F,
|
||
Guirado L,
|
||
Ars E,
|
||
Torra R</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Oct;78(4):560-570.e1.
|
||
Epub 2021 Apr 7
|
||
doi: 10.1053/j.ajkd.2021.02.326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33838161" target="_blank">33838161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29987460">Expert consensus guidelines for the genetic diagnosis of Alport syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Ariani F,
|
||
Mari F,
|
||
Bruttini M,
|
||
Renieri A,
|
||
Gross O,
|
||
Deltas C,
|
||
Flinter F,
|
||
Ding J,
|
||
Gale DP,
|
||
Nagel M,
|
||
Yau M,
|
||
Shagam L,
|
||
Torra R,
|
||
Ars E,
|
||
Hoefele J,
|
||
Garosi G,
|
||
Storey H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2019 Jul;34(7):1175-1189.
|
||
Epub 2018 Jul 9
|
||
doi: 10.1007/s00467-018-3985-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29987460" target="_blank">29987460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29551517">Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE,
|
||
Ding J,
|
||
Garosi G,
|
||
Heidet L,
|
||
Massella L,
|
||
Nakanishi K,
|
||
Nozu K,
|
||
Renieri A,
|
||
Rheault M,
|
||
Wang F,
|
||
Gross O</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2018 May;93(5):1045-1051.
|
||
Epub 2018 Mar 16
|
||
doi: 10.1016/j.kint.2017.12.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29551517" target="_blank">29551517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28515156">Anti-Glomerular Basement Membrane Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McAdoo SP,
|
||
Pusey CD</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jul 7;12(7):1162-1172.
|
||
Epub 2017 May 17
|
||
doi: 10.2215/CJN.01380217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28515156" target="_blank">28515156</a><a href="/pmc/articles/PMC5498345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alport%20syndrome%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 (258)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37218713">Effectiveness of renin-angiotensin-aldosterone system blockers in patients with Alport syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeng M,
|
||
Di H,
|
||
Liang J,
|
||
Liu Z</span><br />
|
||
<span class="medgenPMjournal">Nephrol Dial Transplant</span>
|
||
2023 Oct 31;38(11):2485-2493.
|
||
doi: 10.1093/ndt/gfad105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37218713" target="_blank">37218713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35806283">Potential Renal Damage Biomarkers in Alport Syndrome-A Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomes AM,
|
||
Lopes D,
|
||
Almeida C,
|
||
Santos S,
|
||
Malheiro J,
|
||
Lousa I,
|
||
Caldas Afonso A,
|
||
Beirão I</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Jun 30;23(13)
|
||
doi: 10.3390/ijms23137276.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35806283" target="_blank">35806283</a><a href="/pmc/articles/PMC9266446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30804262">Incidence of pediatric glomerular diseases in Arab world: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alwahaibi NY,
|
||
Al Issaei HK,
|
||
Al Dhahli BS</span><br />
|
||
<span class="medgenPMjournal">Saudi J Kidney Dis Transpl</span>
|
||
2019 Jan-Feb;30(1):15-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30804262" target="_blank">30804262</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30577043">Diffuse Esophageal Leiomyomatosis in Pediatric Patients: A Systematic Review and Quality of Evidence Assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ziogas IA,
|
||
Mylonas KS,
|
||
Tsoulfas G,
|
||
Spartalis E,
|
||
Zavras N,
|
||
Nikiteas N,
|
||
Schizas D</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2019 Dec;29(6):487-494.
|
||
Epub 2018 Dec 21
|
||
doi: 10.1055/s-0038-1676507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30577043" target="_blank">30577043</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16181590">Evidence-based algorithm for the evaluation of a child with bilateral sensorineural hearing loss.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morzaria S,
|
||
Westerberg BD,
|
||
Kozak FK</span><br />
|
||
<span class="medgenPMjournal">J Otolaryngol</span>
|
||
2005 Oct;34(5):297-303.
|
||
doi: 10.2310/7070.2005.34501.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16181590" target="_blank">16181590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Alport%20syndrome%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1567741%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C1567741%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1567741%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1567741%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (41)</a></li>
|
||
<li><a href="/gtr/tests?term=C1567741%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1567741%5bDISCUI%5d" target="_blank">See all (44)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS301050" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=63" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Alport%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22alport%20syndrome%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(%22Alport%20syndrome%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></div>
|
||
</div>
|
||
|
||
<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>
|
||
<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=120070%20120131%20303630" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1285[geneid]" target="_blank">View COL4A3 variations in ClinVar</a></li><li><a href="/clinvar/?term=1286[geneid]" target="_blank">View COL4A4 variations in ClinVar</a></li><li><a href="/clinvar/?term=1287[geneid]" target="_blank">View COL4A5 variations in ClinVar</a></li><li><a href="/nuccore/224994237,224994238,228008380" target="_blank">RefSeqGene</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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Alport%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/alport-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5785/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">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Alport%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Alport%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
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||
</div>
|
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<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=339209" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=339209" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1567741[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1567741[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=339209" ref="log$=recordlinks">MeSH</a>
|
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=339209" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=339209" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=339209" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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</li>
|
||
</ul>
|
||
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|
||
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|
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|
||
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|
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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Turn On
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<ul id="activity">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3247f67c23b31e0f7f686">Alport syndrome</a>
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<div class="ralinkpop offscreen_noflow">Alport syndrome<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d3247b2f30673f7b3424ed">Hereditary hearing loss and deafness</a>
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<div class="ralinkpop offscreen_noflow">Hereditary hearing loss and deafness<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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</li>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d3247867c23b31e0f7d13b">Decreased circulating biotinidase concentration</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d3247667c23b31e0f7c7aa">Metabolic ketoacidosis</a>
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<div class="ralinkpop offscreen_noflow">Metabolic ketoacidosis<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d324732f30673f7b33e9c9">Recurrent skin infections</a>
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<div class="ralinkpop offscreen_noflow">Recurrent skin infections<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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|
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<p id="turnOn" class="HTOff">
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
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