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<!--
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||
UID=52657
|
||
ConceptID=C0039445
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary hemorrhagic telangiectasia<span class="h1sub">(HHT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52657</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.">C0039445</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>HHT; ORW DISEASE; Osler hemorrhagic telangiectasia syndrome; Osler Weber Rendu syndrome; OSLER-RENDU-WEBER DISEASE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Osler hemorrhagic telangiectasia syndrome (21877004); Osler-Weber-Rendu disease (21877004); Hereditary hemorrhagic telangiectasia (21877004); Osler-Rendu-Weber syndrome (21877004); Osler-Rendu-Weber disease (21877004); HHT - Hereditary hemorrhagic telangiectasia (21877004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/4089">SMAD4</a>, <a target="_blank" href="/gene/2658">GDF2</a>, <a target="_blank" href="/gene/2022">ENG</a>, <a target="_blank" href="/gene/94">ACVRL1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019180" target="_blank">MONDO:0019180</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/187300" target="_blank">187300</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS187300" target="_blank">PS187300</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=774">ORPHA774</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">Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic Telangiectasia See also HHT2 (600376), caused by mutation in the ALK1 gene (ACVRL1; 601284) on chromosome 12q13; HHT4 (610655), mapped to chromosome 7p14; and HHT5 (615506), caused by mutation in the GDF2 gene (605120) on chromosome 10q11. A locus formerly designated HHT3 and mapped to chromosome 5 was found to be in error; see HISTORY. Affected members of the family in which the HHT3 locus was mapped were found to have a mutation in ENG (see MOLECULAR GENETICS) and have been included in HHT1. See also juvenile polyposis/HHT syndrome (175050), caused by mutation in the SMAD4 gene (600993). [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_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0039445[DISCUI]&test_type=Clinical" ref="ncbi_uid=52657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=52657" target="_blank" href="/omim/187300">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=52657" ref="ncbi_uid=52657">V</a></span></span><span class="TLline">Hereditary hemorrhagic telangiectasia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832774[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=371403">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371403" target="_blank" href="/omim/601101">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1351/" ref="ncbi_uid=371403">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/371403" ref="tree=GTR&ncbi_uid=371403&link_uid=371403" title="View MedGen record for 'Hereditary hemorrhagic telangiectasia type 3'">Hereditary hemorrhagic telangiectasia type 3</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=341824" target="_blank" href="/omim/610655">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1351/" ref="ncbi_uid=341824">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/341824" ref="tree=GTR&ncbi_uid=341824&link_uid=341824" title="View MedGen record for 'Hereditary hemorrhagic telangiectasia type 4'">Hereditary hemorrhagic telangiectasia type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832942[DISCUI]&test_type=Clinical" ref="ncbi_uid=331400">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331400" target="_blank" href="/omim/175050">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1351%20OR%20NBK1469)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=331400">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331400" ref="ncbi_uid=331400">V</a></span></span><span class="TLline"><a href="/medgen/331400" ref="tree=GTR&ncbi_uid=331400&link_uid=331400" title="View MedGen record for 'Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome'">Juvenile polyposis/hereditary hemorrhagic telangiectasia 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=C4551861[DISCUI]&test_type=Clinical" ref="ncbi_uid=1643786">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1643786" target="_blank" href="/omim/187300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1351/" ref="ncbi_uid=1643786">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1643786" ref="ncbi_uid=1643786">V</a></span></span><span class="TLline"><a href="/medgen/1643786" ref="tree=GTR&ncbi_uid=1643786&link_uid=1643786" title="View MedGen record for 'Telangiectasia, hereditary hemorrhagic, type 1'">Telangiectasia, hereditary hemorrhagic, type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838163[DISCUI]&test_type=Clinical" ref="ncbi_uid=324960">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324960" target="_blank" href="/omim/600376">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1351/" ref="ncbi_uid=324960">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324960" ref="ncbi_uid=324960">V</a></span></span><span class="TLline"><a href="/medgen/324960" ref="tree=GTR&ncbi_uid=324960&link_uid=324960" title="View MedGen record for 'Telangiectasia, hereditary hemorrhagic, type 2'">Telangiectasia, hereditary hemorrhagic, type 2</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=C3809710[DISCUI]&test_type=Clinical" ref="ncbi_uid=816040">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816040" target="_blank" href="/omim/605120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1351/" ref="ncbi_uid=816040">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816040" ref="ncbi_uid=816040">V</a></span></span><span class="TLline"><a href="/medgen/816040" ref="tree=GTR&ncbi_uid=816040&link_uid=816040" title="View MedGen record for 'Telangiectasia, hereditary hemorrhagic, type 5'">Telangiectasia, hereditary hemorrhagic, type 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208858" ref="tree=MeSH" title="MedGen record for Localized skin lesion">Localized skin lesion</a></span><ul><li><span class="TLline"><a href="/medgen/90955" ref="tree=MeSH" title="MedGen record for Capillary malformation">Capillary malformation</a></span><ul><li><span class="matched_ds">Hereditary hemorrhagic telangiectasia</span><ul><li><span class="TLline"><a href="/medgen/371403" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 3">Hereditary hemorrhagic telangiectasia type 3</a></span></li><li><span class="TLline"><a href="/medgen/341824" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia type 4">Hereditary hemorrhagic telangiectasia type 4</a></span></li><li><span class="TLline"><a href="/medgen/331400" ref="tree=MeSH" title="MedGen record for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome">Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1643786" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 1">Telangiectasia, hereditary hemorrhagic, type 1</a></span></li><li><span class="TLline"><a href="/medgen/324960" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 2">Telangiectasia, hereditary hemorrhagic, type 2</a></span></li><li><span class="TLline"><a href="/medgen/816040" ref="tree=MeSH" title="MedGen record for Telangiectasia, hereditary hemorrhagic, type 5">Telangiectasia, hereditary hemorrhagic, type 5</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=236&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hereditary hemorrhagic telangiectasia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32894695">Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faughnan ME,
|
||
Mager JJ,
|
||
Hetts SW,
|
||
Palda VA,
|
||
Lang-Robertson K,
|
||
Buscarini E,
|
||
Deslandres E,
|
||
Kasthuri RS,
|
||
Lausman A,
|
||
Poetker D,
|
||
Ratjen F,
|
||
Chesnutt MS,
|
||
Clancy M,
|
||
Whitehead KJ,
|
||
Al-Samkari H,
|
||
Chakinala M,
|
||
Conrad M,
|
||
Cortes D,
|
||
Crocione C,
|
||
Darling J,
|
||
de Gussem E,
|
||
Derksen C,
|
||
Dupuis-Girod S,
|
||
Foy P,
|
||
Geisthoff U,
|
||
Gossage JR,
|
||
Hammill A,
|
||
Heimdal K,
|
||
Henderson K,
|
||
Iyer VN,
|
||
Kjeldsen AD,
|
||
Komiyama M,
|
||
Korenblatt K,
|
||
McDonald J,
|
||
McMahon J,
|
||
McWilliams J,
|
||
Meek ME,
|
||
Mei-Zahav M,
|
||
Olitsky S,
|
||
Palmer S,
|
||
Pantalone R,
|
||
Piccirillo JF,
|
||
Plahn B,
|
||
Porteous MEM,
|
||
Post MC,
|
||
Radovanovic I,
|
||
Rochon PJ,
|
||
Rodriguez-Lopez J,
|
||
Sabba C,
|
||
Serra M,
|
||
Shovlin C,
|
||
Sprecher D,
|
||
White AJ,
|
||
Winship I,
|
||
Zarrabeitia R</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2020 Dec 15;173(12):989-1001.
|
||
Epub 2020 Sep 8
|
||
doi: 10.7326/M20-1443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32894695" target="_blank">32894695</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31910111">Clinical Practice Guideline: Nosebleed (Epistaxis).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tunkel DE,
|
||
Anne S,
|
||
Payne SC,
|
||
Ishman SL,
|
||
Rosenfeld RM,
|
||
Abramson PJ,
|
||
Alikhaani JD,
|
||
Benoit MM,
|
||
Bercovitz RS,
|
||
Brown MD,
|
||
Chernobilsky B,
|
||
Feldstein DA,
|
||
Hackell JM,
|
||
Holbrook EH,
|
||
Holdsworth SM,
|
||
Lin KW,
|
||
Lind MM,
|
||
Poetker DM,
|
||
Riley CA,
|
||
Schneider JS,
|
||
Seidman MD,
|
||
Vadlamudi V,
|
||
Valdez TA,
|
||
Nnacheta LC,
|
||
Monjur TM</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2020 Jan;162(1_suppl):S1-S38.
|
||
doi: 10.1177/0194599819890327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31910111" target="_blank">31910111</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29794143">Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kritharis A,
|
||
Al-Samkari H,
|
||
Kuter DJ</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2018 Sep;103(9):1433-1443.
|
||
Epub 2018 May 24
|
||
doi: 10.3324/haematol.2018.193003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29794143" target="_blank">29794143</a><a href="/pmc/articles/PMC6119150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20hemorrhagic%20telangiectasia%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 (133)</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/34801145">Neurosurgical Considerations of Neurocutaneous Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iyer RR,
|
||
Strahle JM,
|
||
Groves ML</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Clin N Am</span>
|
||
2022 Jan;33(1):81-89.
|
||
Epub 2021 Oct 28
|
||
doi: 10.1016/j.nec.2021.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34801145" target="_blank">34801145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29747729">Maternal Genetic Disorders in Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris S,
|
||
Vora NL</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
|
||
2018 Jun;45(2):249-265.
|
||
doi: 10.1016/j.ogc.2018.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29747729" target="_blank">29747729</a><a href="/pmc/articles/PMC5966822" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28298578">Hereditary Hemorrhagic Telangiectasia Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peterson J</span><br />
|
||
<span class="medgenPMjournal">Radiol Technol</span>
|
||
2017 Jan;88(3):277-294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28298578" target="_blank">28298578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26024602">Pulmonary vascular diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cummings KW,
|
||
Bhalla S</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2015 Jun;36(2):235-48, viii.
|
||
Epub 2015 Mar 26
|
||
doi: 10.1016/j.ccm.2015.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26024602" target="_blank">26024602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19364792">Hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grand'Maison A</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2009 Apr 14;180(8):833-5.
|
||
doi: 10.1503/cmaj.081739.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19364792" target="_blank">19364792</a><a href="/pmc/articles/PMC2665965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%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 (825)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36695382">Thrombosis in hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kroll CJ,
|
||
Kroll MH</span><br />
|
||
<span class="medgenPMjournal">J Thromb Haemost</span>
|
||
2023 Jan;21(1):18-20.
|
||
doi: 10.1016/j.jtha.2022.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36695382" target="_blank">36695382</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33171488">Hereditary hemorrhagic telangiectasia: systemic therapies, guidelines, and an evolving standard of care.</a></div>
|
||
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Simeoni I,
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Downes K,
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Frazer ZC,
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Megy K,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%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 (468)</a></div></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/37995018">Treatments of Epistaxis in Hereditary Hemorrhagic Telangiectasia: Systematic Review and Network Meta-Analysis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35686303">Neurologic Complications in Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformations: A Systematic Review.</a></div>
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LaBranche J,
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Dhillon S,
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<span class="bold">PMID: </span><a href="/pubmed/35686303" target="_blank">35686303</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35152768">Sclerotherapy for Hereditary Hemorrhagic Telangiectasia-Related Epistaxis: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thiele B,
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Abdel-Aty Y,
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Marks L,
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Lal D,
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Ryan MW,
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Clark C,
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<span class="bold">PMID: </span><a href="/pubmed/29393992" target="_blank">29393992</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28427830">Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Felli E,
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Addeo P,
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Faitot F,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%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 (29)</a></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0039445%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
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||
<li><a href="/gtr/tests?term=C0039445%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (2)</a></li>
|
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<li><a href="/gtr/tests?term=C0039445%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0039445%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0039445%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
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<li><a href="/gtr/tests?term=C0039445%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0039445%5bDISCUI%5d" target="_blank">See all (23)</a></total></li>
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