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<!--
|
||
UID=5027
|
||
ConceptID=C0014867
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Esophageal varix</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5027</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.">C0014867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Esophageal varices</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Esophageal varix (28670008); OV - Esophageal varices (28670008); Esophageal varices (28670008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002040">HP:0002040</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001221" target="_blank">MONDO:0001221</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Extreme dilation of the submucusoal veins in the lower portion of the esophagus. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0014867[DISCUI]&test_type=Clinical" ref="ncbi_uid=5027">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Esophageal varix</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/3828" ref="tree=MeSH" title="MedGen record for Disorder of digestive system">Disorder of digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/78584" ref="tree=MeSH" title="MedGen record for Abnormality of the digestive system">Abnormality of the digestive system</a></span><ul><li><span class="TLline"><a href="/medgen/927600" ref="tree=MeSH" title="MedGen record for Abnormal digestive system morphology">Abnormal digestive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866726" ref="tree=MeSH" title="MedGen record for Abnormal gastrointestinal tract morphology">Abnormal gastrointestinal tract morphology</a></span><ul><li><span class="TLline"><a href="/medgen/539700" ref="tree=MeSH" title="MedGen record for Abnormal esophagus morphology">Abnormal esophagus morphology</a></span><ul><li><span class="matched_ds">Esophageal varix</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_40266"><div><strong>Cholesteryl ester storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40266</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.">C0008384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_6642"><div><strong>Glycogen storage disease, type IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6642</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.">C0017923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence, including decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6642">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</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.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208652"><div><strong>Cholestasis-pigmentary retinopathy-cleft palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208652</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.">C0795969</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208652">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340930"><div><strong>Joubert syndrome with oculorenal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340930</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.">C1855675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340930">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350049"><div><strong>Cirrhosis, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350049</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.">C1861556</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cirrhosis in which no causative agent can be identified.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350049">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766144"><div><strong>COG6-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766144</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.">C3553230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766144">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854497"><div><strong>Vasculitis due to ADA2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854497</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.">C3887654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854497">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863407"><div><strong>Adams-Oliver syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863407</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.">C4014970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863407">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908556"><div><strong>Adams-Oliver syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908556</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.">C4225271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908556">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934702"><div><strong>Portal hypertension, noncirrhotic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934702</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.">C4310735</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934702">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1390862"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1390862</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.">C4479220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1390862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621793"><div><strong>Polycystic kidney disease 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621793</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.">C4540575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive polycystic kidney disease – PKHD1 (ARPKD-PKHD1) is characterized by primary involvement of the kidneys and liver with mostly secondary effects seen in other organ systems. Of the three ages of initial presentation of kidney disease, the two most common are perinatal (i.e., prenatal/neonatal) and infantile (four weeks to age one year) with the classic finding of enlarged kidneys. The major difference between the perinatal and infantile presentations, which typically have similar kidney and liver findings, is the frequent occurrence of pulmonary involvement in the perinatal presentation, which is a major cause of morbidity and mortality in neonates. The less common initial presentation in childhood (after age one year) to young adulthood can be associated with predominant hepatobiliary manifestations characterized by the clinical consequences of developmental anomalies of biliary ductal plate remodeling (also known as Caroli disease). Although the short-term and long-term mortality rates of ARPKD remain significant, the survival of individuals with ARPKD has improved with modern neonatal respiratory support, kidney replacement therapy (KRT) including dialysis and kidney transplantation (KTx), and liver transplantation (LTx) or combined liver and kidney transplantation (CLKTx).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621793">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1710499"><div><strong>Retinitis pigmentosa 89</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710499</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.">C5394552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1710499">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1769861"><div><strong>COACH syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1769861</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.">C5435651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1769861">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750003"><div><strong>Rajab interstitial lung disease with brain calcifications 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750003</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.">C5436276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-1 (RILDBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794158"><div><strong>Portal hypertension, noncirrhotic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794158</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.">C5561948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 (142230) (summary by Drzewiecki et al., 2021). For a discussion of genetic heterogeneity of NCPH, see 617068.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794158">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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.">C5561974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794200"><div><strong>Biliary, renal, neurologic, and skeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794200</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.">C5561990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794200">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794255"><div><strong>Cholestasis, progressive familial intrahepatic, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794255</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.">C5562045</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by Unlusoy Aksu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794255">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841132"><div><strong>Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841132</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.">C5830496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-8 (PFBMFT8) is an autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Some affected individuals have signs of bone marrow failure, such as thrombocytopenia, or liver dysfunction, including hepatopulmonary syndrome. Other features of dyskeratosis congenita, including premature graying of the hair, may be observed. Telomeres are shortened compared to controls (Kelich et al., 2022). For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841132">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 5</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908556" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794200" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biliary, renal, neurologic, and skeletal syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1390862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebroretinal microangiopathy with calcifications and cysts 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis, progressive familial intrahepatic, 8</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis-pigmentary retinopathy-cleft palate syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_40266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholesteryl ester storage disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cirrhosis, familial</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1769861" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">COACH syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766144" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">COG6-congenital disorder of glycosylation</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycogen storage disease, type IV</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome with oculorenal defect</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic kidney disease 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension, noncirrhotic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Portal hypertension, noncirrhotic, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rajab interstitial lung disease with brain calcifications 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1710499" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 89</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis due to ADA2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32417223">Validating the BAVENO VI criteria to identify low risk biliary atresia patients without endoscopy for esophageal varix.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang Y,
|
||
Park S,
|
||
Kim S,
|
||
Han SJ,
|
||
Koh H</span><br />
|
||
<span class="medgenPMjournal">Clin Res Hepatol Gastroenterol</span>
|
||
2021 Jan;45(1):101437.
|
||
Epub 2020 May 13
|
||
doi: 10.1016/j.clinre.2020.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32417223" target="_blank">32417223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31277322">Current Approaches to the Treatment of Gastric Varices: Glue, Coil Application, TIPS, and BRTO.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goral V,
|
||
Yılmaz N</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2019 Jul 3;55(7)
|
||
doi: 10.3390/medicina55070335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31277322" target="_blank">31277322</a><a href="/pmc/articles/PMC6681371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28838434">Management of Portal Hypertension After Liver Transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korda D,
|
||
Deák PÁ,
|
||
Kiss G,
|
||
Gerlei Z,
|
||
Kóbori L,
|
||
Görög D,
|
||
Fehérvári I,
|
||
Piros L,
|
||
Máthé Z,
|
||
Doros A</span><br />
|
||
<span class="medgenPMjournal">Transplant Proc</span>
|
||
2017 Sep;49(7):1530-1534.
|
||
doi: 10.1016/j.transproceed.2017.06.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28838434" target="_blank">28838434</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22esophageal%20varix%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37818651">Deep learning to predict esophageal variceal bleeding based on endoscopic images.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong Y,
|
||
Yu Q,
|
||
Mo F,
|
||
Yin M,
|
||
Xu C,
|
||
Zhu S,
|
||
Lin J,
|
||
Xu G,
|
||
Gao J,
|
||
Liu L,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Oct;51(10):3000605231200371.
|
||
doi: 10.1177/03000605231200371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37818651" target="_blank">37818651</a><a href="/pmc/articles/PMC10566287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35501403">Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang W,
|
||
Li L,
|
||
Feng X,
|
||
Cheng H,
|
||
Ge X,
|
||
Bao Y,
|
||
Huang L,
|
||
Wang F,
|
||
Liu C,
|
||
Chen X,
|
||
Mo Z,
|
||
Yang X</span><br />
|
||
<span class="medgenPMjournal">Commun Biol</span>
|
||
2022 May 2;5(1):405.
|
||
doi: 10.1038/s42003-022-03351-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35501403" target="_blank">35501403</a><a href="/pmc/articles/PMC9061855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31277322">Current Approaches to the Treatment of Gastric Varices: Glue, Coil Application, TIPS, and BRTO.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goral V,
|
||
Yılmaz N</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2019 Jul 3;55(7)
|
||
doi: 10.3390/medicina55070335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31277322" target="_blank">31277322</a><a href="/pmc/articles/PMC6681371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31042068">Intrahepatic distant recurrence after radiofrequency ablation of hepatocellular carcinoma: relationship with portal hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim R,
|
||
Jeong WK,
|
||
Kang TW,
|
||
Song KD,
|
||
Lee MW,
|
||
Ahn SH,
|
||
Rhim H</span><br />
|
||
<span class="medgenPMjournal">Acta Radiol</span>
|
||
2019 Dec;60(12):1609-1618.
|
||
Epub 2019 May 1
|
||
doi: 10.1177/0284185119842830.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31042068" target="_blank">31042068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1539560">Gastroesophageal reflux after endoscopic injection sclerotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita Y,
|
||
Kitajima N,
|
||
Itoh T,
|
||
Ishido S,
|
||
Nishiyama K,
|
||
Kawanami C,
|
||
Kishi K,
|
||
Inatome T,
|
||
Fukuzaki H,
|
||
Chiba T</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
1992 Mar;87(3):282-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1539560" target="_blank">1539560</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20varix%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 (49)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37818651">Deep learning to predict esophageal variceal bleeding based on endoscopic images.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong Y,
|
||
Yu Q,
|
||
Mo F,
|
||
Yin M,
|
||
Xu C,
|
||
Zhu S,
|
||
Lin J,
|
||
Xu G,
|
||
Gao J,
|
||
Liu L,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Oct;51(10):3000605231200371.
|
||
doi: 10.1177/03000605231200371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37818651" target="_blank">37818651</a><a href="/pmc/articles/PMC10566287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33967143">Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kogami T,
|
||
Uojima H,
|
||
Ebato T,
|
||
Bando Y,
|
||
Hoshino A,
|
||
Saegusa M,
|
||
Ohbu M,
|
||
Iwasaki S,
|
||
Wada N,
|
||
Kubota K,
|
||
Tanaka Y,
|
||
Hidaka H,
|
||
Nakazawa T,
|
||
Shibuya A,
|
||
Koizumi W</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2021 Nov 1;60(21):3427-3433.
|
||
Epub 2021 May 7
|
||
doi: 10.2169/internalmedicine.7483-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33967143" target="_blank">33967143</a><a href="/pmc/articles/PMC8627820" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31359540">Neonatal hemochromatosis associated with rupture of esophageal varices.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hatayama K,
|
||
Washio Y,
|
||
Okamura T,
|
||
Noda T,
|
||
Tsukahara H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2019 Jul;61(7):735-737.
|
||
doi: 10.1111/ped.13908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31359540" target="_blank">31359540</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23159366">Vascular lesion in an adult mimicking esophageal varix.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ryu KH,
|
||
Lee TH,
|
||
Kwon TG</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2013 Jan;144(1):35, 253.
|
||
Epub 2012 Nov 14
|
||
doi: 10.1053/j.gastro.2012.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23159366" target="_blank">23159366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6602526">Idiopathic esophageal varix.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trenkner SW,
|
||
Levine MS,
|
||
Laufer I,
|
||
Glick SN</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
1983 Jul;141(1):43-4.
|
||
doi: 10.2214/ajr.141.1.43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6602526" target="_blank">6602526</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20varix%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 (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37818651">Deep learning to predict esophageal variceal bleeding based on endoscopic images.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong Y,
|
||
Yu Q,
|
||
Mo F,
|
||
Yin M,
|
||
Xu C,
|
||
Zhu S,
|
||
Lin J,
|
||
Xu G,
|
||
Gao J,
|
||
Liu L,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Oct;51(10):3000605231200371.
|
||
doi: 10.1177/03000605231200371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37818651" target="_blank">37818651</a><a href="/pmc/articles/PMC10566287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35501403">Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang W,
|
||
Li L,
|
||
Feng X,
|
||
Cheng H,
|
||
Ge X,
|
||
Bao Y,
|
||
Huang L,
|
||
Wang F,
|
||
Liu C,
|
||
Chen X,
|
||
Mo Z,
|
||
Yang X</span><br />
|
||
<span class="medgenPMjournal">Commun Biol</span>
|
||
2022 May 2;5(1):405.
|
||
doi: 10.1038/s42003-022-03351-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35501403" target="_blank">35501403</a><a href="/pmc/articles/PMC9061855" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31277322">Current Approaches to the Treatment of Gastric Varices: Glue, Coil Application, TIPS, and BRTO.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goral V,
|
||
Yılmaz N</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2019 Jul 3;55(7)
|
||
doi: 10.3390/medicina55070335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31277322" target="_blank">31277322</a><a href="/pmc/articles/PMC6681371" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24039373">Cerebral and splenic infarctions after injection of N-butyl-2-cyanoacrylate in esophageal variceal bleeding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Myung DS,
|
||
Chung CY,
|
||
Park HC,
|
||
Kim JS,
|
||
Cho SB,
|
||
Lee WS,
|
||
Choi SK,
|
||
Joo YE</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2013 Sep 14;19(34):5759-62.
|
||
doi: 10.3748/wjg.v19.i34.5759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24039373" target="_blank">24039373</a><a href="/pmc/articles/PMC3769917" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1539560">Gastroesophageal reflux after endoscopic injection sclerotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita Y,
|
||
Kitajima N,
|
||
Itoh T,
|
||
Ishido S,
|
||
Nishiyama K,
|
||
Kawanami C,
|
||
Kishi K,
|
||
Inatome T,
|
||
Fukuzaki H,
|
||
Chiba T</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
1992 Mar;87(3):282-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1539560" target="_blank">1539560</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20varix%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 (29)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37818651">Deep learning to predict esophageal variceal bleeding based on endoscopic images.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong Y,
|
||
Yu Q,
|
||
Mo F,
|
||
Yin M,
|
||
Xu C,
|
||
Zhu S,
|
||
Lin J,
|
||
Xu G,
|
||
Gao J,
|
||
Liu L,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Oct;51(10):3000605231200371.
|
||
doi: 10.1177/03000605231200371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37818651" target="_blank">37818651</a><a href="/pmc/articles/PMC10566287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33967143">Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kogami T,
|
||
Uojima H,
|
||
Ebato T,
|
||
Bando Y,
|
||
Hoshino A,
|
||
Saegusa M,
|
||
Ohbu M,
|
||
Iwasaki S,
|
||
Wada N,
|
||
Kubota K,
|
||
Tanaka Y,
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||
Hidaka H,
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||
Nakazawa T,
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||
Shibuya A,
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Koizumi W</span><br />
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<span class="medgenPMjournal">Intern Med</span>
|
||
2021 Nov 1;60(21):3427-3433.
|
||
Epub 2021 May 7
|
||
doi: 10.2169/internalmedicine.7483-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33967143" target="_blank">33967143</a><a href="/pmc/articles/PMC8627820" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31359540">Neonatal hemochromatosis associated with rupture of esophageal varices.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hatayama K,
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Washio Y,
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Okamura T,
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Noda T,
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Tsukahara H</span><br />
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<span class="medgenPMjournal">Pediatr Int</span>
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||
2019 Jul;61(7):735-737.
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||
doi: 10.1111/ped.13908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31359540" target="_blank">31359540</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25404106">Gastrointestinal: hepatocellular carcinoma in an esophageal varix.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rich G,
|
||
Williams D,
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||
Roche E</span><br />
|
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<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2014 Dec;29(12):1950.
|
||
doi: 10.1111/jgh.12806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25404106" target="_blank">25404106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22905479">Decompensated cirrhosis and pregnancy: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kouakou F,
|
||
Loué V,
|
||
Adjoby R,
|
||
N'guessan K,
|
||
Effoh D</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Obstet Gynecol</span>
|
||
2012;39(2):252-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22905479" target="_blank">22905479</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20varix%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (34)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37818651">Deep learning to predict esophageal variceal bleeding based on endoscopic images.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong Y,
|
||
Yu Q,
|
||
Mo F,
|
||
Yin M,
|
||
Xu C,
|
||
Zhu S,
|
||
Lin J,
|
||
Xu G,
|
||
Gao J,
|
||
Liu L,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Oct;51(10):3000605231200371.
|
||
doi: 10.1177/03000605231200371.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37818651" target="_blank">37818651</a><a href="/pmc/articles/PMC10566287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32901570">Quantitative CT Predictors of Portal Venous Intervention in Uncontrolled Variceal Bleeding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pham JT,
|
||
Kalantari J,
|
||
Ji C,
|
||
Chang JH,
|
||
Kiang SC,
|
||
Jin DH,
|
||
Tomihama RT</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
2020 Nov;215(5):1247-1251.
|
||
Epub 2020 Sep 9
|
||
doi: 10.2214/AJR.19.22460.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32901570" target="_blank">32901570</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20102472">"Bubbles"--a spot diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kettner M,
|
||
Ramsthaler F,
|
||
Schnabel A</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
2010 May;55(3):842-4.
|
||
Epub 2010 Jan 25
|
||
doi: 10.1111/j.1556-4029.2009.01284.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20102472" target="_blank">20102472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1539560">Gastroesophageal reflux after endoscopic injection sclerotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita Y,
|
||
Kitajima N,
|
||
Itoh T,
|
||
Ishido S,
|
||
Nishiyama K,
|
||
Kawanami C,
|
||
Kishi K,
|
||
Inatome T,
|
||
Fukuzaki H,
|
||
Chiba T</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
1992 Mar;87(3):282-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1539560" target="_blank">1539560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3259195">Endoscopic esophageal varix ligation: preliminary clinical experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Stiegmann G,
|
||
Goff JS</span><br />
|
||
<span class="medgenPMjournal">Gastrointest Endosc</span>
|
||
1988 Mar-Apr;34(2):113-7.
|
||
doi: 10.1016/s0016-5107(88)71274-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3259195" target="_blank">3259195</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Esophageal%20varix%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 (30)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
||
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|
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|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0014867%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0014867%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0014867%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Esophageal%20varix" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22esophageal%20varix%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Esophageal%20varix%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
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|
||
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||
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