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1360 lines
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170 KiB
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<meta name="keywords" content="C4551861, disease or syndrome, eng, eng-related hereditary hemorrhagic telangiectasia, hereditary hemorrhagic telangiectasia type 1, hht, hht1, orw disease, osler weber rendu syndrome type 1, osler-rendu-weber disease, telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber, telangiectasia, hereditary hemorrhagic, type 1, 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=1643786
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ConceptID=C4551861
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Telangiectasia, hereditary hemorrhagic, type 1<span class="h1sub">(HHT1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643786</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4551861</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ENG-Related Hereditary Hemorrhagic Telangiectasia; HHT1; Osler Weber Rendu syndrome type 1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ENG - ID: 2022 - NCBI Gene" href="/gene/2022" class="medgenPMinfo">ENG</a> (9q34.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008535" target="_blank">MONDO:0008535</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>
|
||
</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>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />There are several forms of hereditary hemorrhagic telangiectasia, distinguished mainly by their genetic cause but with some differences in patterns of signs and symptoms. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have blood vessel malformations in the lungs and brain. Type 2 and type 3 may be associated with a higher risk of liver involvement. Women are more likely than men to develop blood vessel malformations in the lungs with type 1, and are also at higher risk of liver involvement with both type 1 and type 2. Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems.<br /><br />Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Hereditary hemorrhagic telangiectasia types 1, 2 and 3 do not appear to increase the likelihood of such polyps.<br /><br />Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent episodes of severe bleeding (hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs.<br /><br />In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface of the skin, where they are visible as red markings, they are known as telangiectases (the singular is telangiectasia).<br /><br />In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart.<br /><br />Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia">https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2992"><div><strong>Chest pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2992</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.">C0008031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2992">Feature record</a> | <a href="/medgen?term=%22Chest%20pain%22%5BClinical%20Features%5D%20OR%202992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57692"><div><strong>Clubbing</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57692</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.">C0149651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57692">Feature record</a> | <a href="/medgen?term=%22Clubbing%22%5BClinical%20Features%5D%20OR%2057692%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_57732"><div><strong>Pulmonary hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57732</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.">C0151701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57732">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20hemorrhage%22%5BClinical%20Features%5D%20OR%2057732%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_101044"><div><strong>Hepatic arteriovenous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101044</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.">C0520557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101044">Feature record</a> | <a href="/medgen?term=%22Hepatic%20arteriovenous%20malformation%22%5BClinical%20Features%5D%20OR%20101044%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_148166"><div><strong>Gastrointestinal arteriovenous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148166</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.">C0744321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148166">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20arteriovenous%20malformation%22%5BClinical%20Features%5D%20OR%20148166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163130"><div><strong>Gastrointestinal angiodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163130</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.">C0854242</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysplasia affecting the vasculature of the gastrointestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163130">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20angiodysplasia%22%5BClinical%20Features%5D%20OR%20163130%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_425404"><div><strong>Pulmonary arterial hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>425404</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.">C2973725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/425404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%22%5BClinical%20Features%5D%20OR%20425404%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_8971"><div><strong>Gastrointestinal hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8971</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.">C0017181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage affecting the gastrointestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8971">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20hemorrhage%22%5BClinical%20Features%5D%20OR%208971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6770"><div><strong>Hematemesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6770</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.">C0018926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The vomiting of blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6770">Feature record</a> | <a href="/medgen?term=%22Hematemesis%22%5BClinical%20Features%5D%20OR%206770%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5481"><div><strong>Hematochezia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5481</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.">C0018932</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5481">Feature record</a> | <a href="/medgen?term=%22Hematochezia%22%5BClinical%20Features%5D%20OR%205481%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7368"><div><strong>Cirrhosis of liver</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7368</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.">C0023890</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7368">Feature record</a> | <a href="/medgen?term=%22Cirrhosis%20of%20liver%22%5BClinical%20Features%5D%20OR%207368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7523"><div><strong>Melena</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7523</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.">C0025222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7523">Feature record</a> | <a href="/medgen?term=%22Melena%22%5BClinical%20Features%5D%20OR%207523%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%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_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18552"><div><strong>Polycythemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18552</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.">C0032461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18552">Feature record</a> | <a href="/medgen?term=%22Polycythemia%22%5BClinical%20Features%5D%20OR%2018552%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_5502"><div><strong>Hemoptysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5502</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.">C0019079</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5502">Feature record</a> | <a href="/medgen?term=%22Hemoptysis%22%5BClinical%20Features%5D%20OR%205502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5510"><div><strong>Hemothorax</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5510</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.">C0019123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of blood in the pleural space.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5510">Feature record</a> | <a href="/medgen?term=%22Hemothorax%22%5BClinical%20Features%5D%20OR%205510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68549"><div><strong>Exertional dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68549</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.">C0231807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68549">Feature record</a> | <a href="/medgen?term=%22Exertional%20dyspnea%22%5BClinical%20Features%5D%20OR%2068549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152145"><div><strong>Hypoxemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152145</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.">C0700292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low level of blood oxygen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152145">Feature record</a> | <a href="/medgen?term=%22Hypoxemia%22%5BClinical%20Features%5D%20OR%20152145%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478856"><div><strong>Restrictive ventilatory defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478856</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.">C3277226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478856">Feature record</a> | <a href="/medgen?term=%22Restrictive%20ventilatory%20defect%22%5BClinical%20Features%5D%20OR%20478856%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_898646"><div><strong>Reduced FEV1/FVC ratio</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898646</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.">C4280729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898646">Feature record</a> | <a href="/medgen?term=%22Reduced%20FEV1%2FFVC%20ratio%22%5BClinical%20Features%5D%20OR%20898646%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2335"><div><strong>Brain abscess</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2335</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.">C0006105</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A collection of pus, immune cells, and other material in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2335">Feature record</a> | <a href="/medgen?term=%22Brain%20abscess%22%5BClinical%20Features%5D%20OR%202335%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_21088"><div><strong>Telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21088</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.">C0039446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21088">Feature record</a> | <a href="/medgen?term=%22Telangiectasia%22%5BClinical%20Features%5D%20OR%2021088%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_451085"><div><strong>Gastrointestinal telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451085</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.">C1619711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectasia affecting the gastrointestinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/451085">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20telangiectasia%22%5BClinical%20Features%5D%20OR%20451085%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373904"><div><strong>Nail bed telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373904</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.">C1838167</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectases in the area of the nails.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373904">Feature record</a> | <a href="/medgen?term=%22Nail%20bed%20telangiectasia%22%5BClinical%20Features%5D%20OR%20373904%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_396091"><div><strong>Fingerpad telangiectases</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396091</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.">C1861248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396091">Feature record</a> | <a href="/medgen?term=%22Fingerpad%20telangiectases%22%5BClinical%20Features%5D%20OR%20396091%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867629"><div><strong>Telangiectasia of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867629</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.">C4022018</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867629">Feature record</a> | <a href="/medgen?term=%22Telangiectasia%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20867629%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_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycythemia</a></span></li><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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clubbing</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_163130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal angiodysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal arteriovenous malformation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic arteriovenous malformation</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_425404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial hypertension</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_57732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hemorrhage</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 digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis of liver</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6770" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematemesis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5481" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematochezia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Melena</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain abscess</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_396091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fingerpad telangiectases</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_451085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal telangiectasia</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_373904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail bed 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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia of the skin</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_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exertional dyspnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemoptysis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemothorax</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoxemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_898646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced FEV1/FVC ratio</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive ventilatory defect</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chest pain</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="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="matched_ds"><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">Telangiectasia, hereditary hemorrhagic, type 1</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">Telangiectasia, hereditary hemorrhagic, type 1</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/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=(telangiectasia%2C%20hereditary%20hemorrhagic%2C%20type%201)%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 (191)</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/34889398">Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammill AM,
|
||
Wusik K,
|
||
Kasthuri RS</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2021 Dec 10;2021(1):469-477.
|
||
doi: 10.1182/hematology.2021000281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34889398" target="_blank">34889398</a><a href="/pmc/articles/PMC8791148" 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/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=%22Telangiectasia%2C%20hereditary%20hemorrhagic%2C%20type%201%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 (827)</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/33565494">Hereditary haemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tapadia A,
|
||
Mahadevan B,
|
||
Jain M,
|
||
Sameer Kumar GS,
|
||
Venkataraman J</span><br />
|
||
<span class="medgenPMjournal">Natl Med J India</span>
|
||
2020 Jan-Feb;33(1):60.
|
||
doi: 10.4103/0970-258X.308260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33565494" target="_blank">33565494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31881140">Hereditary Hemorrhagic Telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schotland H,
|
||
Denstaedt S</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 Dec 26;381(26):2552.
|
||
doi: 10.1056/NEJMicm1905896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31881140" target="_blank">31881140</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 class="nl"><a target="_blank" href="/pubmed/7666879">Hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guttmacher AE,
|
||
Marchuk DA,
|
||
White RI Jr</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1995 Oct 5;333(14):918-24.
|
||
doi: 10.1056/NEJM199510053331407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7666879" target="_blank">7666879</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%2C%20hereditary%20hemorrhagic%2C%20type%201%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 (1284)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38864625">How I treat bleeding in hereditary hemorrhagic telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Samkari H</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Aug 29;144(9):940-954.
|
||
doi: 10.1182/blood.2023021765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38864625" target="_blank">38864625</a><a href="/pmc/articles/PMC11830975" target="_blank" class="PubMedFree">Free PMC Article</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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Samkari H</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2021 Feb 18;137(7):888-895.
|
||
doi: 10.1182/blood.2020008739.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33171488" target="_blank">33171488</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 class="nl"><a target="_blank" href="/pubmed/17055882">Hemorrhagic hereditary telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farias AQ,
|
||
Carrilho FJ</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc</span>
|
||
2006 Nov;64(5):813; discussion 813.
|
||
Epub 2006 Jul 26
|
||
doi: 10.1016/j.gie.2006.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17055882" target="_blank">17055882</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%2C%20hereditary%20hemorrhagic%2C%20type%201%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 (475)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34889398">Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammill AM,
|
||
Wusik K,
|
||
Kasthuri RS</span><br />
|
||
<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
|
||
2021 Dec 10;2021(1):469-477.
|
||
doi: 10.1182/hematology.2021000281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34889398" target="_blank">34889398</a><a href="/pmc/articles/PMC8791148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cohen BA,
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Turcios NL</span><br />
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2021 Feb;68(1):261-276.
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<span class="bold">PMID: </span><a href="/pubmed/33228937" target="_blank">33228937</a></div>
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<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,
|
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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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Bernabeu-Herrero ME,
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Shurr A,
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Brimley J,
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Patel D,
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Kell L,
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26460394">Hereditary haemorrhagic telangiectasia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19364792">Hereditary hemorrhagic telangiectasia.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%2C%20hereditary%20hemorrhagic%2C%20type%201%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 (425)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39292928">Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Al-Samkari H,
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Kasthuri RS,
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Iyer VN,
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Pishko AM,
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Decker JE,
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Weiss CR,
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Whitehead KJ,
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Conrad MB,
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Zumberg MS,
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Zhou JY,
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Parambil J,
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Marsh D,
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Clancy M,
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32675221">An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Samkari H,
|
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Kasthuri RS,
|
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Parambil JG,
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Albitar HA,
|
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Almodallal YA,
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Vázquez C,
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Serra MM,
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Dupuis-Girod S,
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Wilsen CB,
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McWilliams JP,
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Fountain EH,
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Gossage JR,
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Weiss CR,
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Latif MA,
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Issachar A,
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Mei-Zahav M,
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Meek ME,
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Conrad M,
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Rodriguez-Lopez J,
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Kuter DJ,
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Iyer VN</span><br />
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2021 Aug 1;106(8):2161-2169.
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doi: 10.3324/haematol.2020.261859.
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<span class="bold">PMID: </span><a href="/pubmed/32675221" target="_blank">32675221</a><a href="/pmc/articles/PMC8327711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32573726">Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Shovlin CL,
|
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Simeoni I,
|
||
Downes K,
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Frazer ZC,
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Megy K,
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Bernabeu-Herrero ME,
|
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Shurr A,
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Brimley J,
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Patel D,
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Kell L,
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Stephens J,
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Turbin IG,
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Aldred MA,
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Penkett CJ,
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||
Ouwehand WH,
|
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Jovine L,
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Turro E</span><br />
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<span class="medgenPMjournal">Blood</span>
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2020 Oct 22;136(17):1907-1918.
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doi: 10.1182/blood.2019004560.
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/23458130">Normal and abnormal pulmonary arteriovenous shunting: occurrence and mechanisms.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hoffman JI</span><br />
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2013 Oct;23(5):629-41.
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<span class="bold">PMID: </span><a href="/pubmed/23458130" target="_blank">23458130</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17670762">Genetic causes of vascular malformations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brouillard P,
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Vikkula M</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
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2007 Oct 15;16 Spec No. 2:R140-9.
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<span class="bold">PMID: </span><a href="/pubmed/17670762" target="_blank">17670762</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%2C%20hereditary%20hemorrhagic%2C%20type%201%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 (469)</a></div></div>
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||
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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">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37995018">Treatments of Epistaxis in Hereditary Hemorrhagic Telangiectasia: Systematic Review and Network Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitsuthipakorn W,
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Hoang MP,
|
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Kanjanawasee D,
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||
Seresirikachorn K,
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Snidvongs K</span><br />
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<span class="medgenPMjournal">Curr Allergy Asthma Rep</span>
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||
2023 Dec;23(12):689-701.
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||
Epub 2023 Nov 23
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||
doi: 10.1007/s11882-023-01116-8.
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||
<span class="bold">PMID: </span><a href="/pubmed/37995018" target="_blank">37995018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35686303">Neurologic Complications in Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformations: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agarwal J,
|
||
LaBranche J,
|
||
Dhillon S,
|
||
Allison WT,
|
||
Jeerakathil T,
|
||
Vethanayagam D</span><br />
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<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2023 Jul;50(4):561-572.
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||
Epub 2022 Jun 10
|
||
doi: 10.1017/cjn.2022.80.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35686303" target="_blank">35686303</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35152768">Sclerotherapy for Hereditary Hemorrhagic Telangiectasia-Related Epistaxis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiele B,
|
||
Abdel-Aty Y,
|
||
Marks L,
|
||
Lal D,
|
||
Marino M</span><br />
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||
<span class="medgenPMjournal">Ann Otol Rhinol Laryngol</span>
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||
2023 Jan;132(1):82-90.
|
||
Epub 2022 Feb 12
|
||
doi: 10.1177/00034894221078075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35152768" target="_blank">35152768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29393992">Medical treatment of epistaxis in hereditary hemorrhagic telangiectasia: an evidence-based review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Halderman AA,
|
||
Ryan MW,
|
||
Clark C,
|
||
Sindwani R,
|
||
Reh DD,
|
||
Poetker DM,
|
||
Invernizzi R,
|
||
Marple BF</span><br />
|
||
<span class="medgenPMjournal">Int Forum Allergy Rhinol</span>
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||
2018 Jun;8(6):713-728.
|
||
Epub 2018 Feb 2
|
||
doi: 10.1002/alr.22094.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29393992" target="_blank">29393992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28427830">Liver transplantation for hereditary hemorrhagic telangiectasia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felli E,
|
||
Addeo P,
|
||
Faitot F,
|
||
Nappo G,
|
||
Oncioiu C,
|
||
Bachellier P</span><br />
|
||
<span class="medgenPMjournal">HPB (Oxford)</span>
|
||
2017 Jul;19(7):567-572.
|
||
Epub 2017 Apr 17
|
||
doi: 10.1016/j.hpb.2017.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28427830" target="_blank">28427830</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Telangiectasia%2C%20hereditary%20hemorrhagic%2C%20type%201%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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551861%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (46)</a></li>
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<li><a href="/gtr/tests?term=C4551861%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C4551861%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
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<li><a href="/gtr/tests?term=C4551861%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (59)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551861%5bDISCUI%5d" target="_blank">See all (68)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=131195" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2022[geneid]" target="_blank">View ENG variations in ClinVar</a></li><li><a href="/nuccore/222831625" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=187300" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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