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<meta name="keywords" content="C1857688, disease or syndrome, hereditary hemorrhagic telangiectasia type 4, hht4, telangiectasia, hereditary hemorrhagic, type 4, 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="Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=341824
|
||
ConceptID=C1857688
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary hemorrhagic telangiectasia type 4<span class="h1sub">(HHT4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341824</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.">C1857688</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>HHT4</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012532" target="_blank">MONDO:0012532</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610655" target="_blank">610655</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1351" target="_blank">Hereditary Hemorrhagic Telangiectasia</a></div><div>Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1351#hht.Summary" target="NBK1351">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Diagnosis" target="NBK1351">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Clinical_Characteristics" target="NBK1351">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Genetically_Related_Allelic_Disorder" target="NBK1351">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Differential_Diagnosis" target="NBK1351">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Management" target="NBK1351">Management</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Genetic_Counseling" target="NBK1351">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Resources" target="NBK1351">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Molecular_Genetics" target="NBK1351">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.Chapter_Notes" target="NBK1351">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1351#hht.References" target="NBK1351">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Jamie McDonald | David A Stevenson <a href="/books/NBK1351" target="NBK1351" title="NCBI Bookshelf: Hereditary Hemorrhagic Telangiectasia">view full author information</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_853"><div><strong>Transient ischemic attack</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853</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.">C0007787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853">Feature record</a> | <a href="/medgen?term=%22Transient%20ischemic%20attack%22%5BClinical%20Features%5D%20OR%20853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83876"><div><strong>Spinal arteriovenous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83876</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.">C0348023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83876">Feature record</a> | <a href="/medgen?term=%22Spinal%20arteriovenous%20malformation%22%5BClinical%20Features%5D%20OR%2083876%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98446"><div><strong>Right-to-left shunt</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98446</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.">C0428871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98446">Feature record</a> | <a href="/medgen?term=%22Right-to-left%20shunt%22%5BClinical%20Features%5D%20OR%2098446%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196646"><div><strong>High-output congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196646</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.">C0742747</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196646">Feature record</a> | <a href="/medgen?term=%22High-output%20congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%20196646%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_214590"><div><strong>Cerebral arteriovenous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>214590</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.">C0917804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/214590">Feature record</a> | <a href="/medgen?term=%22Cerebral%20arteriovenous%20malformation%22%5BClinical%20Features%5D%20OR%20214590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341826"><div><strong>Pulmonary arteriovenous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341826</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.">C1857690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341826">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arteriovenous%20malformation%22%5BClinical%20Features%5D%20OR%20341826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_341828"><div><strong>Venous varicosities of celiac and mesenteric vessels</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341828</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.">C1857692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341828">Feature record</a> | <a href="/medgen?term=%22Venous%20varicosities%20of%20celiac%20and%20mesenteric%20vessels%22%5BClinical%20Features%5D%20OR%20341828%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_387886"><div><strong>Arteriovenous fistulas of celiac and mesenteric vessels</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387886</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.">C1857693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387886">Feature record</a> | <a href="/medgen?term=%22Arteriovenous%20fistulas%20of%20celiac%20and%20mesenteric%20vessels%22%5BClinical%20Features%5D%20OR%20387886%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_423648"><div><strong>Cerebral hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423648</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.">C2937358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage into the parenchyma of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/423648">Feature record</a> | <a href="/medgen?term=%22Cerebral%20hemorrhage%22%5BClinical%20Features%5D%20OR%20423648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1381896"><div><strong>Dilatation of mesenteric artery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1381896</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.">C4476552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1381896">Feature record</a> | <a href="/medgen?term=%22Dilatation%20of%20mesenteric%20artery%22%5BClinical%20Features%5D%20OR%201381896%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1393390"><div><strong>Dilatation of celiac artery</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1393390</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.">C4477059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1393390">Feature record</a> | <a href="/medgen?term=%22Dilatation%20of%20celiac%20artery%22%5BClinical%20Features%5D%20OR%201393390%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11625"><div><strong>Subarachnoid hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11625</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.">C0038525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage occurring between the arachnoid mater and the pia mater.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11625">Feature record</a> | <a href="/medgen?term=%22Subarachnoid%20hemorrhage%22%5BClinical%20Features%5D%20OR%2011625%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</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.">C0149931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_215292"><div><strong>Ischemic stroke</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>215292</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.">C0948008</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes. Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741). See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/215292">Feature record</a> | <a href="/medgen?term=%22Ischemic%20stroke%22%5BClinical%20Features%5D%20OR%20215292%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_816045"><div><strong>Spontaneous, recurrent epistaxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816045</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.">C3809715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816045">Feature record</a> | <a href="/medgen?term=%22Spontaneous%2C%20recurrent%20epistaxis%22%5BClinical%20Features%5D%20OR%20816045%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</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.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871382"><div><strong>Tongue telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871382</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.">C4025878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871382">Feature record</a> | <a href="/medgen?term=%22Tongue%20telangiectasia%22%5BClinical%20Features%5D%20OR%20871382%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1189"><div><strong>Cyanosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1189</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.">C0010520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1189">Feature record</a> | <a href="/medgen?term=%22Cyanosis%22%5BClinical%20Features%5D%20OR%201189%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66780"><div><strong>Conjunctival telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66780</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.">C0239105</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66780">Feature record</a> | <a href="/medgen?term=%22Conjunctival%20telangiectasia%22%5BClinical%20Features%5D%20OR%2066780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347522"><div><strong>Lip telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347522</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.">C1857697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347522">Feature record</a> | <a href="/medgen?term=%22Lip%20telangiectasia%22%5BClinical%20Features%5D%20OR%20347522%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_387887"><div><strong>Palate telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387887</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.">C1857699</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387887">Feature record</a> | <a href="/medgen?term=%22Palate%20telangiectasia%22%5BClinical%20Features%5D%20OR%20387887%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871359"><div><strong>Nasal mucosa telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871359</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.">C4025853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectasia of the nasal mucosa.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871359">Feature record</a> | <a href="/medgen?term=%22Nasal%20mucosa%20telangiectasia%22%5BClinical%20Features%5D%20OR%20871359%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_816045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spontaneous, recurrent epistaxis</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tongue telangiectasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arteriovenous fistulas of celiac and mesenteric vessels</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_214590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral arteriovenous malformation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_423648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1393390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilatation of celiac artery</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1381896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilatation of mesenteric artery</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High-output congestive heart failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arteriovenous malformation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right-to-left shunt</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal arteriovenous malformation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transient ischemic attack</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341828" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Venous varicosities of celiac and mesenteric vessels</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conjunctival telangiectasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cyanosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lip telangiectasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasal mucosa telangiectasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palate telangiectasia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_215292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ischemic stroke</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subarachnoid hemorrhage</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</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=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"><a href="/medgen/52657" ref="tree=GTR&ncbi_uid=52657&link_uid=52657" title="View MedGen record for 'Hereditary hemorrhagic telangiectasia'">Hereditary hemorrhagic telangiectasia</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=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="matched_ds"><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">Hereditary hemorrhagic telangiectasia type 4</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/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="TLline"><a href="/medgen/52657" ref="tree=MeSH" title="MedGen record for Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a></span><ul><li><span class="matched_ds">Hereditary hemorrhagic telangiectasia type 4</span></li></ul></li></ul></li></ul></li></ul></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/37572862">Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pollak M,
|
||
Gatt D,
|
||
Shaw M,
|
||
Hewko SL,
|
||
Lamanna A,
|
||
Santos S,
|
||
Ratjen F</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2023 Dec;263:113665.
|
||
Epub 2023 Aug 11
|
||
doi: 10.1016/j.jpeds.2023.113665.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37572862" target="_blank">37572862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31910122">Clinical Practice Guideline: Nosebleed (Epistaxis) Executive Summary.</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):8-25.
|
||
doi: 10.1177/0194599819889955.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31910122" target="_blank">31910122</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hereditary%20hemorrhagic%20telangiectasia%20type%204)%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 (14)</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10751092">Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shovlin CL,
|
||
Guttmacher AE,
|
||
Buscarini E,
|
||
Faughnan ME,
|
||
Hyland RH,
|
||
Westermann CJ,
|
||
Kjeldsen AD,
|
||
Plauchu H</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Mar 6;91(1):66-7.
|
||
doi: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10751092" target="_blank">10751092</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/39151291">Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan J,
|
||
Wu X,
|
||
Zhao J,
|
||
Ding Q,
|
||
Dai J,
|
||
Wang X,
|
||
Lu Y,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">Thromb Res</span>
|
||
2024 Sep;241:109117.
|
||
Epub 2024 Aug 12
|
||
doi: 10.1016/j.thromres.2024.109117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39151291" target="_blank">39151291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36265891">Schizencephaly in Hereditary Hemorrhagic Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaines JJ,
|
||
Gilbert BC,
|
||
Gossage JR,
|
||
Parker W,
|
||
Reddy A,
|
||
Forseen SE</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2022 Nov;43(11):1603-1607.
|
||
Epub 2022 Oct 20
|
||
doi: 10.3174/ajnr.A7677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36265891" target="_blank">36265891</a><a href="/pmc/articles/PMC9731247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32573726">Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shovlin CL,
|
||
Simeoni I,
|
||
Downes K,
|
||
Frazer ZC,
|
||
Megy K,
|
||
Bernabeu-Herrero ME,
|
||
Shurr A,
|
||
Brimley J,
|
||
Patel D,
|
||
Kell L,
|
||
Stephens J,
|
||
Turbin IG,
|
||
Aldred MA,
|
||
Penkett CJ,
|
||
Ouwehand WH,
|
||
Jovine L,
|
||
Turro E</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Oct 22;136(17):1907-1918.
|
||
doi: 10.1182/blood.2019004560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32573726" target="_blank">32573726</a><a href="/pmc/articles/PMC7717479" target="_blank" class="PubMedFree">Free PMC Article</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/16121312">Genetics of pulmonary arterial hypertension: current and future implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elliott CG</span><br />
|
||
<span class="medgenPMjournal">Semin Respir Crit Care Med</span>
|
||
2005 Aug;26(4):365-71.
|
||
doi: 10.1055/s-2005-916150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16121312" target="_blank">16121312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%20type%204%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 (63)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36981042">Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilera C,
|
||
Padró-Miquel A,
|
||
Esteve-Garcia A,
|
||
Cerdà P,
|
||
Torres-Iglesias R,
|
||
Llecha N,
|
||
Riera-Mestre A</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Mar 22;14(3)
|
||
doi: 10.3390/genes14030772.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36981042" target="_blank">36981042</a><a href="/pmc/articles/PMC10048779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34995570">Snake Technique in Osler's Disease-Associated Thoracoabdominal Aortic Aneurysm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bessho S,
|
||
Ito H,
|
||
Nakamura B,
|
||
Shomura Y,
|
||
Ogihara Y,
|
||
Yamada N,
|
||
Takao M</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2022 Oct;114(4):e283-e285.
|
||
Epub 2022 Jan 5
|
||
doi: 10.1016/j.athoracsur.2021.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34995570" target="_blank">34995570</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/27059009">Neurological involvement in hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labeyrie PE,
|
||
Courthéoux P,
|
||
Babin E,
|
||
Bergot E,
|
||
Touzé E,
|
||
Pelage JP</span><br />
|
||
<span class="medgenPMjournal">J Neuroradiol</span>
|
||
2016 Jul;43(4):236-45.
|
||
Epub 2016 Apr 5
|
||
doi: 10.1016/j.neurad.2016.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27059009" target="_blank">27059009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25159282">Genetics of pulmonary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Best DH,
|
||
Austin ED,
|
||
Chung WK,
|
||
Elliott CG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
2014 Nov;29(6):520-7.
|
||
doi: 10.1097/HCO.0000000000000105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25159282" target="_blank">25159282</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%20type%204%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 (67)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32557619">In-Office KTP Laser for Treating Hereditary Hemorrhagic Telangiectasia-Associated Epistaxis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu V,
|
||
Kell E,
|
||
Faughnan ME,
|
||
Lee JM</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2021 Mar;131(3):E689-E693.
|
||
Epub 2020 Jun 18
|
||
doi: 10.1002/lary.28824.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32557619" target="_blank">32557619</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/31400083">Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Zhang Y,
|
||
Wang X,
|
||
Zhang L</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Sep;7(9):e893.
|
||
Epub 2019 Aug 10
|
||
doi: 10.1002/mgg3.893.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31400083" target="_blank">31400083</a><a href="/pmc/articles/PMC6732279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27767404">Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brinjikji W,
|
||
Iyer VN,
|
||
Wood CP,
|
||
Lanzino G</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2017 Aug;127(2):302-310.
|
||
Epub 2016 Oct 21
|
||
doi: 10.3171/2016.7.JNS16847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27767404" target="_blank">27767404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23919827">Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YJ,
|
||
Yang QH,
|
||
Liu D,
|
||
Liu QQ,
|
||
Eyries M,
|
||
Wen L,
|
||
Wu WH,
|
||
Jiang X,
|
||
Yuan P,
|
||
Zhang R,
|
||
Soubrier F,
|
||
Jing ZC</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
2013 Oct;43(10):1016-24.
|
||
Epub 2013 Aug 6
|
||
doi: 10.1111/eci.12138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23919827" target="_blank">23919827</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%20type%204%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36981042">Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilera C,
|
||
Padró-Miquel A,
|
||
Esteve-Garcia A,
|
||
Cerdà P,
|
||
Torres-Iglesias R,
|
||
Llecha N,
|
||
Riera-Mestre A</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Mar 22;14(3)
|
||
doi: 10.3390/genes14030772.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36981042" target="_blank">36981042</a><a href="/pmc/articles/PMC10048779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33801690">Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bofarid S,
|
||
Hosman AE,
|
||
Mager JJ,
|
||
Snijder RJ,
|
||
Post MC</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Mar 27;22(7)
|
||
doi: 10.3390/ijms22073471.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33801690" target="_blank">33801690</a><a href="/pmc/articles/PMC8038106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32573726">Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shovlin CL,
|
||
Simeoni I,
|
||
Downes K,
|
||
Frazer ZC,
|
||
Megy K,
|
||
Bernabeu-Herrero ME,
|
||
Shurr A,
|
||
Brimley J,
|
||
Patel D,
|
||
Kell L,
|
||
Stephens J,
|
||
Turbin IG,
|
||
Aldred MA,
|
||
Penkett CJ,
|
||
Ouwehand WH,
|
||
Jovine L,
|
||
Turro E</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Oct 22;136(17):1907-1918.
|
||
doi: 10.1182/blood.2019004560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32573726" target="_blank">32573726</a><a href="/pmc/articles/PMC7717479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28837534">SEX STEROIDS AND MACULAR TELANGIECTASIA TYPE 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Müller S,
|
||
Allam JP,
|
||
Bunzek CG,
|
||
Clemons TE,
|
||
Holz FG,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2018 Jan;38 Suppl 1:S61-S66.
|
||
doi: 10.1097/IAE.0000000000001789.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28837534" target="_blank">28837534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27528761">Regulation of the ALK1 ligands, BMP9 and BMP10.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li W,
|
||
Salmon RM,
|
||
Jiang H,
|
||
Morrell NW</span><br />
|
||
<span class="medgenPMjournal">Biochem Soc Trans</span>
|
||
2016 Aug 15;44(4):1135-41.
|
||
doi: 10.1042/BST20160083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27528761" target="_blank">27528761</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%20type%204%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 (34)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39151291">Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan J,
|
||
Wu X,
|
||
Zhao J,
|
||
Ding Q,
|
||
Dai J,
|
||
Wang X,
|
||
Lu Y,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">Thromb Res</span>
|
||
2024 Sep;241:109117.
|
||
Epub 2024 Aug 12
|
||
doi: 10.1016/j.thromres.2024.109117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39151291" target="_blank">39151291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36981042">Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguilera C,
|
||
Padró-Miquel A,
|
||
Esteve-Garcia A,
|
||
Cerdà P,
|
||
Torres-Iglesias R,
|
||
Llecha N,
|
||
Riera-Mestre A</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Mar 22;14(3)
|
||
doi: 10.3390/genes14030772.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36981042" target="_blank">36981042</a><a href="/pmc/articles/PMC10048779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34872578">Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kitayama K,
|
||
Ishiguro T,
|
||
Komiyama M,
|
||
Morisaki T,
|
||
Morisaki H,
|
||
Minase G,
|
||
Hamanaka K,
|
||
Miyatake S,
|
||
Matsumoto N,
|
||
Kato M,
|
||
Takahashi T,
|
||
Yorifuji T</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Dec 6;14(1):288.
|
||
doi: 10.1186/s12920-021-01139-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34872578" target="_blank">34872578</a><a href="/pmc/articles/PMC8647423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33407668">Predictors of mortality in patients with hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson KP,
|
||
Nelson J,
|
||
Kim H,
|
||
Pawlikowska L,
|
||
Marchuk DA,
|
||
Lawton MT,
|
||
Faughnan ME;
|
||
Brain Vascular Malformation Consortium HHT Investigator Group</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jan 6;16(1):12.
|
||
doi: 10.1186/s13023-020-01579-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33407668" target="_blank">33407668</a><a href="/pmc/articles/PMC7789194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32573726">Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shovlin CL,
|
||
Simeoni I,
|
||
Downes K,
|
||
Frazer ZC,
|
||
Megy K,
|
||
Bernabeu-Herrero ME,
|
||
Shurr A,
|
||
Brimley J,
|
||
Patel D,
|
||
Kell L,
|
||
Stephens J,
|
||
Turbin IG,
|
||
Aldred MA,
|
||
Penkett CJ,
|
||
Ouwehand WH,
|
||
Jovine L,
|
||
Turro E</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Oct 22;136(17):1907-1918.
|
||
doi: 10.1182/blood.2019004560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32573726" target="_blank">32573726</a><a href="/pmc/articles/PMC7717479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20hemorrhagic%20telangiectasia%20type%204%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 (45)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/27767404">Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brinjikji W,
|
||
Iyer VN,
|
||
Wood CP,
|
||
Lanzino G</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg</span>
|
||
2017 Aug;127(2):302-310.
|
||
Epub 2016 Oct 21
|
||
doi: 10.3171/2016.7.JNS16847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27767404" target="_blank">27767404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26823330">Spinal arteriovenous fistulae in patients with hereditary hemorrhagic telangiectasia: A case report and systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brinjikji W,
|
||
Nasr DM,
|
||
Cloft HJ,
|
||
Iyer VN,
|
||
Lanzino G</span><br />
|
||
<span class="medgenPMjournal">Interv Neuroradiol</span>
|
||
2016 Jun;22(3):354-61.
|
||
Epub 2016 Jan 27
|
||
doi: 10.1177/1591019915623560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26823330" target="_blank">26823330</a><a href="/pmc/articles/PMC4984358" 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=%22Hereditary%20hemorrhagic%20telangiectasia%20type%204%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 (2)</a></div></div>
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