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<meta name="keywords" content="C0241908, benign familial hematuria, bfh, bfh1, disease or syndrome, hematuria, benign familial, hematuria, benign familial, 1, non rare in europe: benign familial hematuria, thin basement membrane disease, thin basement membrane nephropathy, thin membrane nephropathy, thin-basement-membrane nephropathy, tmn, 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="Benign familial hematuria (BFH) is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)). Genetic Heterogeneity of Benign Familial Hematuria See also benign familial hematuria-2 (BFH2; 620320), caused by mutation in the COL4A3 gene (120070)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=66039
|
||
ConceptID=C0241908
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Benign familial hematuria<span class="h1sub">(TMN; BFH; BFH1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66039</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:">C0241908</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hematuria, Benign Familial; Thin Membrane Nephropathy; Thin-Basement-Membrane Nephropathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Thin basement membrane nephropathy (236418003); Thin basement membrane disease (236418003); Benign familial hematuria (236418003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/1286">COL4A4</a>, <a target="_blank" href="/gene/1285">COL4A3</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957317" target="_blank">MONDO:0957317</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/120131" target="_blank">120131</a>; <a href="https://omim.org/entry/141200" target="_blank">141200</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS141200" target="_blank">PS141200</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=97562">ORPHA97562</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">Benign familial hematuria (BFH) is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)). Genetic Heterogeneity of Benign Familial Hematuria See also benign familial hematuria-2 (BFH2; 620320), caused by mutation in the COL4A3 gene (120070). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_5488"><div><strong>Hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5488</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.">C0018965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478451"><div><strong>Thin glomerular basement membrane</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478451</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.">C3276821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478451">Feature record</a> | <a href="/medgen?term=%22Thin%20glomerular%20basement%20membrane%22%5BClinical%20Features%5D%20OR%20478451%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin glomerular basement membrane</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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="TLclosed"><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"><a href="/medgen/339209" ref="tree=GTR&ncbi_uid=339209&link_uid=339209" title="View MedGen record for 'Alport syndrome'">Alport syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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="matched_ds"><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">Benign familial hematuria</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">Benign familial hematuria</span><ul><li><span class="TLline"><a href="/medgen/1053162" ref="tree=MeSH" title="MedGen record for Hematuria, benign familial, 1">Hematuria, benign familial, 1</a></span></li><li><span class="TLline"><a href="/medgen/1841057" ref="tree=MeSH" title="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 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/33854215">Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Storey H,
|
||
Watson E,
|
||
Hertz JM,
|
||
Deltas C,
|
||
Renieri A,
|
||
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,
|
||
Lipska-Ziętkiewicz BS</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2021 Aug;29(8):1186-1197.
|
||
Epub 2021 Apr 15
|
||
doi: 10.1038/s41431-021-00858-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33854215" target="_blank">33854215</a><a href="/pmc/articles/PMC8384871" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23349312">Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savige J,
|
||
Gregory M,
|
||
Gross O,
|
||
Kashtan C,
|
||
Ding J,
|
||
Flinter F</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2013 Feb;24(3):364-75.
|
||
Epub 2013 Jan 24
|
||
doi: 10.1681/ASN.2012020148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23349312" target="_blank">23349312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(benign%20familial%20hematuria)%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 (2)</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/38477333">Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puapatanakul P,
|
||
Miner JH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2024 May 1;33(3):283-290.
|
||
Epub 2024 Mar 13
|
||
doi: 10.1097/MNH.0000000000000983.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38477333" target="_blank">38477333</a><a href="/pmc/articles/PMC10990029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37761826">Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deltas C,
|
||
Papagregoriou G,
|
||
Louka SF,
|
||
Malatras A,
|
||
Flinter F,
|
||
Gale DP,
|
||
Gear S,
|
||
Gross O,
|
||
Hoefele J,
|
||
Lennon R,
|
||
Miner JH,
|
||
Renieri A,
|
||
Savige J,
|
||
Turner AN</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Aug 25;14(9)
|
||
doi: 10.3390/genes14091686.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37761826" target="_blank">37761826</a><a href="/pmc/articles/PMC10530214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24854265">Improving mutation screening in familial hematuric nephropathies through next generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morinière V,
|
||
Dahan K,
|
||
Hilbert P,
|
||
Lison M,
|
||
Lebbah S,
|
||
Topa A,
|
||
Bole-Feysot C,
|
||
Pruvost S,
|
||
Nitschke P,
|
||
Plaisier E,
|
||
Knebelmann B,
|
||
Macher MA,
|
||
Noel LH,
|
||
Gubler MC,
|
||
Antignac C,
|
||
Heidet L</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2014 Dec;25(12):2740-51.
|
||
Epub 2014 May 22
|
||
doi: 10.1681/ASN.2013080912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24854265" target="_blank">24854265</a><a href="/pmc/articles/PMC4243343" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23449218">Hematuria and risk for end-stage kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivante A,
|
||
Calderon-Margalit R,
|
||
Skorecki K</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2013 May;22(3):325-30.
|
||
doi: 10.1097/MNH.0b013e32835f7241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23449218" target="_blank">23449218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12768082">Type-IV collagen related diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pescucci C,
|
||
Longo I,
|
||
Bruttini M,
|
||
Mari F,
|
||
Renieri A</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2003 Mar-Apr;16(2):314-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12768082" target="_blank">12768082</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20hematuria%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38477333">Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puapatanakul P,
|
||
Miner JH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2024 May 1;33(3):283-290.
|
||
Epub 2024 Mar 13
|
||
doi: 10.1097/MNH.0000000000000983.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38477333" target="_blank">38477333</a><a href="/pmc/articles/PMC10990029" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37761826">Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deltas C,
|
||
Papagregoriou G,
|
||
Louka SF,
|
||
Malatras A,
|
||
Flinter F,
|
||
Gale DP,
|
||
Gear S,
|
||
Gross O,
|
||
Hoefele J,
|
||
Lennon R,
|
||
Miner JH,
|
||
Renieri A,
|
||
Savige J,
|
||
Turner AN</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Aug 25;14(9)
|
||
doi: 10.3390/genes14091686.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37761826" target="_blank">37761826</a><a href="/pmc/articles/PMC10530214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10460935">Evidence for genetic heterogeneity in benign familial hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piccini M,
|
||
Casari G,
|
||
Zhou J,
|
||
Bruttini M,
|
||
Volti SL,
|
||
Ballabio A,
|
||
Renieri A</span><br />
|
||
<span class="medgenPMjournal">Am J Nephrol</span>
|
||
1999;19(4):464-7.
|
||
doi: 10.1159/000013499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10460935" target="_blank">10460935</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2282828">Benign familial hematuria: a clinical and histological study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Onetti Muda A,
|
||
Feriozzi S,
|
||
Pecci G,
|
||
Barsotti P,
|
||
Roscia E,
|
||
Cinotti GA</span><br />
|
||
<span class="medgenPMjournal">Contrib Nephrol</span>
|
||
1990;80:95-100.
|
||
doi: 10.1159/000418633.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2282828" target="_blank">2282828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4610279">The nonspecificity of the ultrastructural alterations in hereditary nephritis with additional observations on benign familial hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill GS,
|
||
Jenis EH,
|
||
Goodloe S Jr</span><br />
|
||
<span class="medgenPMjournal">Lab Invest</span>
|
||
1974 Nov;31(5):516-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4610279" target="_blank">4610279</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20hematuria%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 (22)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/16683888">Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haas M</span><br />
|
||
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
|
||
2006 May;130(5):699-706.
|
||
doi: 10.5858/2006-130-699-TGBMNI.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16683888" target="_blank">16683888</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20hematuria%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37761826">Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deltas C,
|
||
Papagregoriou G,
|
||
Louka SF,
|
||
Malatras A,
|
||
Flinter F,
|
||
Gale DP,
|
||
Gear S,
|
||
Gross O,
|
||
Hoefele J,
|
||
Lennon R,
|
||
Miner JH,
|
||
Renieri A,
|
||
Savige J,
|
||
Turner AN</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Aug 25;14(9)
|
||
doi: 10.3390/genes14091686.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37761826" target="_blank">37761826</a><a href="/pmc/articles/PMC10530214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23449218">Hematuria and risk for end-stage kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivante A,
|
||
Calderon-Margalit R,
|
||
Skorecki K</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2013 May;22(3):325-30.
|
||
doi: 10.1097/MNH.0b013e32835f7241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23449218" target="_blank">23449218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12768082">Type-IV collagen related diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pescucci C,
|
||
Longo I,
|
||
Bruttini M,
|
||
Mari F,
|
||
Renieri A</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2003 Mar-Apr;16(2):314-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12768082" target="_blank">12768082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3395216">Benign familial hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshikawa N,
|
||
Matsuyama S,
|
||
Iijima K,
|
||
Maehara K,
|
||
Okada S,
|
||
Matsuo T</span><br />
|
||
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
|
||
1988 Aug;112(8):794-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3395216" target="_blank">3395216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4899625">Benign familial hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marks MI,
|
||
Drummond KN</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1969 Oct;44(4):590-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4899625" target="_blank">4899625</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20hematuria%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35369551">Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horinouchi T,
|
||
Yamamura T,
|
||
Nagano C,
|
||
Sakakibara N,
|
||
Ishiko S,
|
||
Aoto Y,
|
||
Rossanti R,
|
||
Nakanishi K,
|
||
Shima Y,
|
||
Morisada N,
|
||
Iijima K,
|
||
Nozu K</span><br />
|
||
<span class="medgenPMjournal">Kidney360</span>
|
||
2020 Sep 24;1(9):936-942.
|
||
Epub 2020 Jul 16
|
||
doi: 10.34067/KID.0000372019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35369551" target="_blank">35369551</a><a href="/pmc/articles/PMC8815592" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23449218">Hematuria and risk for end-stage kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vivante A,
|
||
Calderon-Margalit R,
|
||
Skorecki K</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2013 May;22(3):325-30.
|
||
doi: 10.1097/MNH.0b013e32835f7241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23449218" target="_blank">23449218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10460935">Evidence for genetic heterogeneity in benign familial hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piccini M,
|
||
Casari G,
|
||
Zhou J,
|
||
Bruttini M,
|
||
Volti SL,
|
||
Ballabio A,
|
||
Renieri A</span><br />
|
||
<span class="medgenPMjournal">Am J Nephrol</span>
|
||
1999;19(4):464-7.
|
||
doi: 10.1159/000013499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10460935" target="_blank">10460935</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3395216">Benign familial hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshikawa N,
|
||
Matsuyama S,
|
||
Iijima K,
|
||
Maehara K,
|
||
Okada S,
|
||
Matsuo T</span><br />
|
||
<span class="medgenPMjournal">Arch Pathol Lab Med</span>
|
||
1988 Aug;112(8):794-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3395216" target="_blank">3395216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4610279">The nonspecificity of the ultrastructural alterations in hereditary nephritis with additional observations on benign familial hematuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill GS,
|
||
Jenis EH,
|
||
Goodloe S Jr</span><br />
|
||
<span class="medgenPMjournal">Lab Invest</span>
|
||
1974 Nov;31(5):516-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4610279" target="_blank">4610279</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Benign%20familial%20hematuria%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
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<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=C0241908%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C0241908%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C0241908%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0241908%5bDISCUI%5d" target="_blank">See all (39)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS141200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=97562" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Benign%20familial%20hematuria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(benign%20familial%20hematuria)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Benign+Familial+Hematuria/794" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hematuria_benign_familial_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Benign%20familial%20hematuria" target="_blank">MedlinePlus</a></li></ul></div>
|
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||
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|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<ul>
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<li>
|
||
<a href="/pubmed/clinical?term=Benign%20familial%20hematuria" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Benign%20familial%20hematuria%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>
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||
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=66039" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0241908[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0241908[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=66039" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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||
</li>
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=66039" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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||
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||
<li class="brieflinkpopper">
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