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<!--
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UID=6616
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ConceptID=C0017658
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glomerulonephritis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6616</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.">C0017658</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Glomerulonephritis (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>GN - Glomerulonephritis (36171008); Glomerulonephritis (36171008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000099">HP:0000099</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002462" target="_blank">MONDO:0002462</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Inflammation of the renal glomeruli. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Glomerulonephritis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/869194" ref="tree=MeSH" title="MedGen record for Abnormality of immune system physiology">Abnormality of immune system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868411" ref="tree=MeSH" title="MedGen record for Abnormal inflammatory response">Abnormal inflammatory response</a></span><ul><li><span class="TLline"><a href="/medgen/868409" ref="tree=MeSH" title="MedGen record for Increased inflammatory response">Increased inflammatory response</a></span><ul><li><span class="TLline"><a href="/medgen/14328" ref="tree=MeSH" title="MedGen record for Nephritis">Nephritis</a></span><ul><li><span class="matched_ds">Glomerulonephritis</span><ul><li><span class="TLline"><a href="/medgen/57846" ref="tree=MeSH" title="MedGen record for Acute glomerulonephritis">Acute glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/137959" ref="tree=MeSH" title="MedGen record for Acute diffuse glomerulonephritis">Acute diffuse glomerulonephritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/140785" ref="tree=MeSH" title="MedGen record for Acute poststreptococcal glomerulonephritis">Acute poststreptococcal glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/231383" ref="tree=MeSH" title="MedGen record for Anti-basement membrane glomerulonephritis">Anti-basement membrane glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/140788" ref="tree=MeSH" title="MedGen record for Anti-glomerular basement membrane disease">Anti-glomerular basement membrane disease</a></span></li><li><span class="TLline"><a href="/medgen/884569" ref="tree=MeSH" title="MedGen record for C3 glomerulonephritis">C3 glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/1698554" ref="tree=MeSH" title="MedGen record for C3 Glomerulopathy with Monoclonal Gammopathy">C3 Glomerulopathy with Monoclonal Gammopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56293" ref="tree=MeSH" title="MedGen record for Chronic glomerulonephritis">Chronic glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/40300" ref="tree=MeSH" title="MedGen record for Chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis">Chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/57622" ref="tree=MeSH" title="MedGen record for Chronic Glomerulonephritis with Lesion of Proliferative Glomerulonephritis">Chronic Glomerulonephritis with Lesion of Proliferative Glomerulonephritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/96040" ref="tree=MeSH" title="MedGen record for Crescentic glomerulonephritis">Crescentic glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/633088" ref="tree=MeSH" title="MedGen record for Cryoglobulinemic glomerulonephritis">Cryoglobulinemic glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/882847" ref="tree=MeSH" title="MedGen record for Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease">Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease</a></span><ul><li><span class="TLline"><a href="/medgen/1703902" ref="tree=MeSH" title="MedGen record for Type I Cryoglobulinemic Glomerulonephritis">Type I Cryoglobulinemic Glomerulonephritis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/163563" ref="tree=MeSH" title="MedGen record for Diffuse glomerulonephritis">Diffuse glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/886532" ref="tree=MeSH" title="MedGen record for Diffuse Endocapillary Glomerulonephritis">Diffuse Endocapillary Glomerulonephritis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/154269" ref="tree=MeSH" title="MedGen record for Exudative glomerulonephritis">Exudative glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/473006" ref="tree=MeSH" title="MedGen record for Fibrillary glomerulonephritis">Fibrillary glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/541448" ref="tree=MeSH" title="MedGen record for Focal AND segmental proliferative glomerulonephritis">Focal AND segmental proliferative glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/65950" ref="tree=MeSH" title="MedGen record for Focal embolic glomerulonephritis">Focal embolic glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/4904" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis">Focal segmental glomerulosclerosis</a></span><ul><li><span class="TLline"><a href="/medgen/98337" ref="tree=MeSH" title="MedGen record for Chronic rejection of renal transplant">Chronic rejection of renal transplant</a></span></li><li><span class="TLline"><a href="/medgen/891201" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Cellular Variant">Focal Segmental Glomerulosclerosis Cellular Variant</a></span></li><li><span class="TLline"><a href="/medgen/889144" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Collapsing Variant">Focal Segmental Glomerulosclerosis Collapsing Variant</a></span></li><li><span class="TLline"><a href="/medgen/889682" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Perihilar Variant">Focal Segmental Glomerulosclerosis Perihilar Variant</a></span></li><li><span class="TLline"><a href="/medgen/885369" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis Tip Lesion Variant">Focal Segmental Glomerulosclerosis Tip Lesion Variant</a></span></li><li><span class="TLline"><a href="/medgen/887152" ref="tree=MeSH" title="MedGen record for Focal Segmental Glomerulosclerosis, Not Otherwise Specified">Focal Segmental Glomerulosclerosis, Not Otherwise Specified</a></span></li><li><span class="TLline"><a href="/medgen/37145" ref="tree=MeSH" title="MedGen record for HIV-associated nephropathy">HIV-associated nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/1008296" ref="tree=MeSH" title="MedGen record for Inherited focal segmental glomerulosclerosis">Inherited focal segmental glomerulosclerosis</a></span><ul><li><span class="TLline"><a href="/medgen/1636833" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 1">Focal segmental glomerulosclerosis 1</a></span></li><li><span class="TLline"><a href="/medgen/349053" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 2">Focal segmental glomerulosclerosis 2</a></span></li><li><span class="TLline"><a href="/medgen/413315" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 5">Focal segmental glomerulosclerosis 5</a></span></li><li><span class="TLline"><a href="/medgen/481535" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 6">Focal segmental glomerulosclerosis 6</a></span></li><li><span class="TLline"><a href="/medgen/863362" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 7">Focal segmental glomerulosclerosis 7</a></span></li><li><span class="TLline"><a href="/medgen/863430" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 8">Focal segmental glomerulosclerosis 8</a></span></li><li><span class="TLline"><a href="/medgen/863992" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 9">Focal segmental glomerulosclerosis 9</a></span></li><li><span class="TLline"><a href="/medgen/335850" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 3, susceptibility to">Focal segmental glomerulosclerosis 3, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/390820" ref="tree=MeSH" title="MedGen record for Focal segmental glomerulosclerosis 4, susceptibility to">Focal segmental glomerulosclerosis 4, susceptibility to</a></span></li><li><span class="TLline"><a href="/medgen/140789" ref="tree=MeSH" title="MedGen record for Nail-patella-like renal disease">Nail-patella-like renal disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/884256" ref="tree=MeSH" title="MedGen record for Obesity Related Glomerulopathy">Obesity Related Glomerulopathy</a></span></li><li><span class="TLline"><a href="/medgen/313617" ref="tree=MeSH" title="MedGen record for Primary focal segmental glomerulosclerosis">Primary focal segmental glomerulosclerosis</a></span></li><li><span class="TLline"><a href="/medgen/354165" ref="tree=MeSH" title="MedGen record for Secondary Focal Segmental Glomerulosclerosis">Secondary Focal Segmental Glomerulosclerosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/885994" ref="tree=MeSH" title="MedGen record for Henoch-Schönlein Purpura Nephritis">Henoch-Schönlein Purpura Nephritis</a></span></li><li><span class="TLline"><a href="/medgen/9032" ref="tree=MeSH" title="MedGen record for IgA glomerulonephritis">IgA glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/753809" ref="tree=MeSH" title="MedGen record for Familial immunoglobulin A nephropathy">Familial immunoglobulin A nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/644711" ref="tree=MeSH" title="MedGen record for IgA nephropathy associated with liver disease">IgA nephropathy associated with liver disease</a></span></li><li><span class="TLline"><a href="/medgen/883203" ref="tree=MeSH" title="MedGen record for IgA Nephropathy, Infection-associated">IgA Nephropathy, Infection-associated</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/889797" ref="tree=MeSH" title="MedGen record for IgM - Associated Nephropathy">IgM - Associated Nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/148168" ref="tree=MeSH" title="MedGen record for Immune-complex glomerulonephritis">Immune-complex glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/1684714" ref="tree=MeSH" title="MedGen record for Immunotactoid glomerulopathy">Immunotactoid glomerulopathy</a></span></li><li><span class="TLline"><a href="/medgen/10307" ref="tree=MeSH" title="MedGen record for Lipoid nephrosis">Lipoid nephrosis</a></span></li><li><span class="TLline"><a href="/medgen/6147" ref="tree=MeSH" title="MedGen record for Lupus nephritis">Lupus nephritis</a></span><ul><li><span class="TLline"><a href="/medgen/885820" ref="tree=MeSH" title="MedGen record for Advanced sclerotic lupus nephritis">Advanced sclerotic lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/883248" ref="tree=MeSH" title="MedGen record for Diffuse lupus nephritis">Diffuse lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/891112" ref="tree=MeSH" title="MedGen record for Focal lupus nephritis">Focal lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/884707" ref="tree=MeSH" title="MedGen record for Membranous lupus nephritis">Membranous lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/882510" ref="tree=MeSH" title="MedGen record for Mesangial proliferative lupus nephritis">Mesangial proliferative lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/888809" ref="tree=MeSH" title="MedGen record for Minimal mesangial lupus nephritis">Minimal mesangial lupus nephritis</a></span></li><li><span class="TLline"><a href="/medgen/890480" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV G">Systemic Lupus Erythematosus Nephritis Class IV G</a></span></li><li><span class="TLline"><a href="/medgen/882190" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class IV S">Systemic Lupus Erythematosus Nephritis Class IV S</a></span></li><li><span class="TLline"><a href="/medgen/887958" ref="tree=MeSH" title="MedGen record for Systemic Lupus Erythematosus Nephritis Class V">Systemic Lupus Erythematosus Nephritis Class V</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42231" ref="tree=MeSH" title="MedGen record for Membranous nephropathy">Membranous nephropathy</a></span><ul><li><span class="TLline"><a href="/medgen/39226" ref="tree=MeSH" title="MedGen record for Idiopathic membranous glomerulonephritis">Idiopathic membranous glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/888223" ref="tree=MeSH" title="MedGen record for Infection-associated membranous nephropathy">Infection-associated membranous nephropathy</a></span></li><li><span class="TLline"><a href="/medgen/888874" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Autoimmune Disorder Associated">Membranous Nephropathy - Autoimmune Disorder Associated</a></span></li><li><span class="TLline"><a href="/medgen/884516" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Drug Associated">Membranous Nephropathy - Drug Associated</a></span></li><li><span class="TLline"><a href="/medgen/890400" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Malignancy Associated">Membranous Nephropathy - Malignancy Associated</a></span></li><li><span class="TLline"><a href="/medgen/881683" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - NEP Induced">Membranous Nephropathy - NEP Induced</a></span></li><li><span class="TLline"><a href="/medgen/882712" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - PLA2R Induced">Membranous Nephropathy - PLA2R Induced</a></span></li><li><span class="TLline"><a href="/medgen/926295" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - Secondary">Membranous Nephropathy - Secondary</a></span></li><li><span class="TLline"><a href="/medgen/883620" ref="tree=MeSH" title="MedGen record for Membranous Nephropathy - THSD7A Induced">Membranous Nephropathy - THSD7A Induced</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66364" ref="tree=MeSH" title="MedGen record for Mesangial proliferative glomerulonephritis">Mesangial proliferative glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/9033" ref="tree=MeSH" title="MedGen record for Mesangiocapillary glomerulonephritis">Mesangiocapillary glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/886443" ref="tree=MeSH" title="MedGen record for Membranoproliferative Glomerulonephritis Type 3 (AQ)">Membranoproliferative Glomerulonephritis Type 3 (AQ)</a></span></li><li><span class="TLline"><a href="/medgen/82828" ref="tree=MeSH" title="MedGen record for Mesangiocapillary glomerulonephritis, type I">Mesangiocapillary glomerulonephritis, type I</a></span></li><li><span class="TLline"><a href="/medgen/124345" ref="tree=MeSH" title="MedGen record for Mesangiocapillary glomerulonephritis, type II">Mesangiocapillary glomerulonephritis, type II</a></span><ul><li><span class="TLline"><a href="/medgen/434347" ref="tree=MeSH" title="MedGen record for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II">CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II</a></span></li><li><span class="TLline"><a href="/medgen/468546" ref="tree=MeSH" title="MedGen record for CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II">CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/890175" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis - ANCA Negative">Pauci-Immune Glomerulonephritis - ANCA Negative</a></span></li><li><span class="TLline"><a href="/medgen/886335" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis - Renal Limited">Pauci-Immune Glomerulonephritis - Renal Limited</a></span></li><li><span class="TLline"><a href="/medgen/881382" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis">Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/887463" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis">Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/889022" ref="tree=MeSH" title="MedGen record for Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis">Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis</a></span></li><li><span class="TLline"><a href="/medgen/68617" ref="tree=MeSH" title="MedGen record for Proliferative glomerulonephritis">Proliferative glomerulonephritis</a></span><ul><li><span class="TLline"><a href="/medgen/1700425" ref="tree=MeSH" title="MedGen record for Proliferative Glomerulonephritis with Monoclonal IgG Deposits">Proliferative Glomerulonephritis with Monoclonal IgG Deposits</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/113155" ref="tree=MeSH" title="MedGen record for Rapidly progressive glomerulonephritis">Rapidly progressive glomerulonephritis</a></span></li><li><span class="TLline"><a href="/medgen/266070" ref="tree=MeSH" title="MedGen record for Subacute glomerulonephritis">Subacute glomerulonephritis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_10257"><div><strong>Nail-patella syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10257</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.">C0027341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage kidney disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10257">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83339"><div><strong>Insulin-dependent diabetes mellitus secretory diarrhea syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83339</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:">C0342288</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life, which includes the triad of enteropathy (manifesting as malabsorption and watery diarrhea), endocrinopathy (most commonly type 1 insulin-dependent diabetes mellitus), and eczematous dermatitis. In addition to these manifestations, many children have other autoimmune phenomena including cytopenias, autoimmune hepatitis, nephropathy, lymphadenopathy, splenomegaly, alopecia, arthritis, and interstitial lung disease related to immune dysregulation. Fetal presentation of IPEX syndrome includes hydrops, echogenic bowel, skin desquamation, intrauterine growth deficiency, and fetal akinesia. Without aggressive immunosuppression or hematopoietic stem cell transplantation (HSCT), the majority of affected males will die within the first one to two years of life from metabolic derangements, severe malabsorption, or sepsis. Individuals with a milder phenotype have survived into the second or third decade of life, but this is uncommon.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83339">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140788"><div><strong>Anti-glomerular basement membrane disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140788</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.">C0403529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Goodpasture syndrome, also known as anti-GBM disease, is a rare autoimmune disease consisting of alveolar hemorrhage and glomerulonephritis secondary to circulating antiglomerular basement membrane (anti-GBM) antibodies. Anti-GBM antibodies are directed against an antigen intrinsic to the alpha-3 chain of type IV collagen (COL4A3; 120070) that is expressed in the GBMs of the glomerular capillary loops and the basal membrane of the pulmonary alveoli. Goodpasture syndrome is suspected in patients with hemoptysis and hematuria and is confirmed by the presence of anti-GBM antibodies in renal biopsy specimens and serum. Patients with human leukocyte antigen HLA-DR15 and HLA-DR4 are susceptible to the development of Goodpasture syndrome. Reported cases of familial Goodpasture syndrome are extremely rare (summary by Angioi et al., 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140788">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98348"><div><strong>Actinic prurigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98348</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.">C0406217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary polymorphic light eruption is a form of photosensitivity found in the American Indians of the central plains of Canada and the United States and in the Indians of Central and South America. The disorder has also been called familial actinic prurigo, solar dermatitis, and hydroa aestivale. In northern latitudes, skin lesions appear on exposed areas early in spring, become severe during the summer, and abate in the fall. Usually the disorder appears in childhood with eczematous crusted eruptions on the face and arms. Fissured, crusted exudative cheilitis develops on the lips, especially the lower lip. The dorsum of the hands, the laterodorsal aspects of the forearms, and the lower half of the arms often show excoriated papular and nodular lesions. Children frequently have complicating pyoderma. Adults usually exhibit an erythematous plaquelike eruption on the face and other exposed areas. The disease is more severe in children than in adults. Glomerulonephritis can follow streptococcal pyoderma (summary by Fusaro and Johnson, 1980).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98348">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_374149"><div><strong>Thrombocytopenia with elevated serum IgA and renal disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374149</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.">C1839162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/374149">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340877"><div><strong>Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340877</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.">C1855470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340877">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462091"><div><strong>Immunodeficiency, common variable, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462091</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.">C3150741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462091">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481743"><div><strong>LAMB2-related infantile-onset nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481743</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.">C3280113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nephrotic syndrome type 5 (NPHS5) is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by Hasselbacher et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/481743">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482228"><div><strong>Asphyxiating thoracic dystrophy 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482228</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.">C3280598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482228">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482272"><div><strong>Complement component 4a deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482272</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.">C3280642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482272">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_483045"><div><strong>Factor I deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483045</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.">C3463916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/483045">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_884569"><div><strong>C3 glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>884569</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.">C4055342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">C3 glomerulopathy-3 (C3G3) is an autosomal dominant kidney disease characterized by the onset of microscopic or macroscopic hematuria in the first 3 decades of life, followed by variable progression of renal disease. After age 30, about half of patients continue to have episodic hematuria while maintaining normal renal function, whereas the other half develop proteinuria and progressive renal failure or end-stage renal disease. In some cases, renal dysfunction may be triggered or exacerbated by an infectious disease, often an upper respiratory infection or pharyngitis. Some patients may also develop hypertension. Renal biopsy shows glomerular C3 deposition and mesangial proliferation with glomerulonephritis. Membranoproliferative glomerulonephritis (MPGN) may also be observed on renal biopsy. Males tend to have a more severe phenotype than females and are more likely to develop end-stage renal disease, often necessitating dialysis or renal transplant (summary by Athanasiou et al., 2011). For a general description and discussion of genetic heterogeneity of C3G, see C3G1 (609814).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/884569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1784363"><div><strong>Autoinflammatory syndrome with immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784363</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.">C5543547</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SLE; see 152700). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Hadjadj et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1784363">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794148"><div><strong>Focal segmental glomerulosclerosis and neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794148</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.">C5561938</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by Assoum et al., 2018 and Weng et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794148">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848787"><div><strong>Autosomal dominant Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848787</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.">C5882663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848787">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1858909"><div><strong>MHC class I deficiency 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1858909</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.">C5935618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MHC class I deficiency-3 (MHC1D3) is an autosomal recessive immunologic disorder characterized by chronic glomerulonephritis and reduced cell surface expression of class I HLA antigens (summary by Yabe et al., 2002). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1858909">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Actinic prurigo</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140788" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-glomerular basement membrane disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asphyxiating thoracic dystrophy 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory syndrome with immunodeficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Alport syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_884569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">C3 glomerulonephritis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482272" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component 4a deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_483045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Factor I deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal segmental glomerulosclerosis and neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency, common variable, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Insulin-dependent diabetes mellitus secretory diarrhea syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481743" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LAMB2-related infantile-onset nephrotic syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340877" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1858909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MHC class I deficiency 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail-patella syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia with elevated serum IgA and renal disease</a></div></span></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/36927642">EULAR recommendations for the management of ANCA-associated vasculitis: 2022 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hellmich B,
|
||
Sanchez-Alamo B,
|
||
Schirmer JH,
|
||
Berti A,
|
||
Blockmans D,
|
||
Cid MC,
|
||
Holle JU,
|
||
Hollinger N,
|
||
Karadag O,
|
||
Kronbichler A,
|
||
Little MA,
|
||
Luqmani RA,
|
||
Mahr A,
|
||
Merkel PA,
|
||
Mohammad AJ,
|
||
Monti S,
|
||
Mukhtyar CB,
|
||
Musial J,
|
||
Price-Kuehne F,
|
||
Segelmark M,
|
||
Teng YKO,
|
||
Terrier B,
|
||
Tomasson G,
|
||
Vaglio A,
|
||
Vassilopoulos D,
|
||
Verhoeven P,
|
||
Jayne D</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2024 Jan 2;83(1):30-47.
|
||
doi: 10.1136/ard-2022-223764.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927642" target="_blank">36927642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32273409">Pharyngitis: Approach to diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sykes EA,
|
||
Wu V,
|
||
Beyea MM,
|
||
Simpson MTW,
|
||
Beyea JA</span><br />
|
||
<span class="medgenPMjournal">Can Fam Physician</span>
|
||
2020 Apr;66(4):251-257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32273409" target="_blank">32273409</a><a href="/pmc/articles/PMC7145142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28550082">Primary Membranous Nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Couser WG</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2017 Jun 7;12(6):983-997.
|
||
Epub 2017 May 26
|
||
doi: 10.2215/CJN.11761116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28550082" target="_blank">28550082</a><a href="/pmc/articles/PMC5460716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glomerulonephritis%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 (779)</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/35461559">Acute glomerulonephritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sethi S,
|
||
De Vriese AS,
|
||
Fervenza FC</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Apr 23;399(10335):1646-1663.
|
||
doi: 10.1016/S0140-6736(22)00461-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35461559" target="_blank">35461559</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34495361">Current treatment of IgA nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Floege J,
|
||
Rauen T,
|
||
Tang SCW</span><br />
|
||
<span class="medgenPMjournal">Semin Immunopathol</span>
|
||
2021 Oct;43(5):717-728.
|
||
Epub 2021 Sep 8
|
||
doi: 10.1007/s00281-021-00888-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34495361" target="_blank">34495361</a><a href="/pmc/articles/PMC8551131" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34247883">IgA Nephropathy: Core Curriculum 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pattrapornpisut P,
|
||
Avila-Casado C,
|
||
Reich HN</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Sep;78(3):429-441.
|
||
Epub 2021 Jul 9
|
||
doi: 10.1053/j.ajkd.2021.01.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34247883" target="_blank">34247883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33121632">Nephritic Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lamba P,
|
||
Nam KH,
|
||
Contractor J,
|
||
Kim A</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2020 Dec;47(4):615-629.
|
||
Epub 2020 Sep 25
|
||
doi: 10.1016/j.pop.2020.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33121632" target="_blank">33121632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32241578">IgA nephropathy: A brief review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassler JR</span><br />
|
||
<span class="medgenPMjournal">Semin Diagn Pathol</span>
|
||
2020 May;37(3):143-147.
|
||
Epub 2020 Mar 16
|
||
doi: 10.1053/j.semdp.2020.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32241578" target="_blank">32241578</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerulonephritis%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 (10432)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32241578">IgA nephropathy: A brief review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hassler JR</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/32884126">New insights into the role of antinuclear antibodies in systemic lupus erythematosus.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerulonephritis%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 (8101)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<span class="bold">PMID: </span><a href="/pubmed/34686531" target="_blank">34686531</a><a href="/pmc/articles/PMC8729409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerulonephritis%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 (6917)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/39249581">The efficacy of rituximab in the treatment of IgA vasculitis nephritis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xiong Y,
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Cuevas S,
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<span class="bold">PMID: </span><a href="/pubmed/39249581" target="_blank">39249581</a><a href="/pmc/articles/PMC11383840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36927642">EULAR recommendations for the management of ANCA-associated vasculitis: 2022 update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hellmich B,
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Sanchez-Alamo B,
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Schirmer JH,
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Berti A,
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Blockmans D,
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Cid MC,
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Holle JU,
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Hollinger N,
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Karadag O,
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Kronbichler A,
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Little MA,
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Luqmani RA,
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Mahr A,
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Monti S,
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Teng YKO,
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Vaglio A,
|
||
Vassilopoulos D,
|
||
Verhoeven P,
|
||
Jayne D</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2024 Jan 2;83(1):30-47.
|
||
doi: 10.1136/ard-2022-223764.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927642" target="_blank">36927642</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35217545">The effects of plasma exchange in patients with ANCA-associated vasculitis: an updated systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walsh M,
|
||
Collister D,
|
||
Zeng L,
|
||
Merkel PA,
|
||
Pusey CD,
|
||
Guyatt G,
|
||
Au Peh C,
|
||
Szpirt W,
|
||
Ito-Hara T,
|
||
Jayne DRW;
|
||
Plasma exchange and glucocorticoid dosing for patients with ANCA-associated vasculitis BMJ Rapid Recommendations Group</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2022 Feb 25;376:e064604.
|
||
doi: 10.1136/bmj-2021-064604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35217545" target="_blank">35217545</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35185862">Systematic Review of Safety and Efficacy of Second- and Third-Generation CD20-Targeting Biologics in Treating Immune-Mediated Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaegi C,
|
||
Wuest B,
|
||
Crowley C,
|
||
Boyman O</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2021;12:788830.
|
||
Epub 2022 Feb 2
|
||
doi: 10.3389/fimmu.2021.788830.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35185862" target="_blank">35185862</a><a href="/pmc/articles/PMC8847774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/30177015">Epidemiology of IgA Nephropathy: A Global Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schena FP,
|
||
Nistor I</span><br />
|
||
<span class="medgenPMjournal">Semin Nephrol</span>
|
||
2018 Sep;38(5):435-442.
|
||
doi: 10.1016/j.semnephrol.2018.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30177015" target="_blank">30177015</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glomerulonephritis%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 (192)</a></div></div>
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