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<meta name="keywords" content="C0017181, gastrointestinal bleed, gastrointestinal bleeding, gastrointestinal haemorrhage, gastrointestinal hemorrhage, gastrointestinal hemorrhages, gi - gastrointestinal bleed, gi - gastrointestinal hemorrhage, gi bleed, gi bleeding, gi haemorrhage, gi hemorrhage, gih - gastrointestinal hemorrhage, git - gastrointestinal tract hemorrhage, hemorrhage, gastrointestinal, pathologic function, 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="Hemorrhage affecting the gastrointestinal tract." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=8971
ConceptID=C0017181
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gastrointestinal hemorrhage</div></h1><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)&#10;Click for more information.">C0017181</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Gastrointestinal Hemorrhage; Gastrointestinal Hemorrhages; Hemorrhage, Gastrointestinal</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>GI - Gastrointestinal hemorrhage (74474003); GIH - Gastrointestinal hemorrhage (74474003); GIT - Gastrointestinal tract hemorrhage (74474003); Gastrointestinal bleed (74474003); GI - Gastrointestinal bleed (74474003); Gastrointestinal hemorrhage (74474003); GI bleeding (74474003); GI hemorrhage (74474003); Gastrointestinal bleeding (74474003)</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:0002239">HP:0002239</a></td></tr>
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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">Hemorrhage affecting the gastrointestinal tract. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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=C0017181[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=8971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=8971" ref="ncbi_uid=8971">V</a></span></span><span class="TLline">Gastrointestinal hemorrhage</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/8970" ref="tree=MeSH" title="MedGen record for Disorder of gastrointestinal tract">Disorder of gastrointestinal tract</a></span><ul><li><span class="matched_ds">Gastrointestinal hemorrhage</span><ul><li><span class="TLline"><a href="/medgen/734293" ref="tree=MeSH" title="MedGen record for Coffee ground vomitus">Coffee ground vomitus</a></span></li><li><span class="TLline"><a href="/medgen/6770" ref="tree=MeSH" title="MedGen record for Hematemesis">Hematemesis</a></span></li><li><span class="TLline"><a href="/medgen/5481" ref="tree=MeSH" title="MedGen record for Hematochezia">Hematochezia</a></span></li><li><span class="TLline"><a href="/medgen/44202" ref="tree=MeSH" title="MedGen record for Lower gastrointestinal hemorrhage">Lower gastrointestinal hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/96527" ref="tree=MeSH" title="MedGen record for Bleeding from anus">Bleeding from anus</a></span></li><li><span class="TLline"><a href="/medgen/78529" ref="tree=MeSH" title="MedGen record for Bleeding hemorrhoids">Bleeding hemorrhoids</a></span></li><li><span class="TLline"><a href="/medgen/306487" ref="tree=MeSH" title="MedGen record for Cecal Hemorrhage">Cecal Hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/141739" ref="tree=MeSH" title="MedGen record for Duodenal hemorrhage">Duodenal hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/57476" ref="tree=MeSH" title="MedGen record for Hemorrhage of colon">Hemorrhage of colon</a></span></li><li><span class="TLline"><a href="/medgen/105479" ref="tree=MeSH" title="MedGen record for Hemorrhage of jejunum">Hemorrhage of jejunum</a></span></li><li><span class="TLline"><a href="/medgen/6797" ref="tree=MeSH" title="MedGen record for Hemorrhage of rectum and anus">Hemorrhage of rectum and anus</a></span></li><li><span class="TLline"><a href="/medgen/105480" ref="tree=MeSH" title="MedGen record for Ileal hemorrhage">Ileal hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/209093" ref="tree=MeSH" title="MedGen record for Intestinal Stoma Site Hemorrhage">Intestinal Stoma Site Hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/78630" ref="tree=MeSH" title="MedGen record for Rectal hemorrhage">Rectal hemorrhage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7523" ref="tree=MeSH" title="MedGen record for Melena">Melena</a></span><ul><li><span class="TLline"><a href="/medgen/634842" ref="tree=MeSH" title="MedGen record for Neonatal melena">Neonatal melena</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10639" ref="tree=MeSH" title="MedGen record for Peptic ulcer with hemorrhage">Peptic ulcer with hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/52926" ref="tree=MeSH" title="MedGen record for Upper gastrointestinal bleeding">Upper gastrointestinal bleeding</a></span><ul><li><span class="TLline"><a href="/medgen/68680" ref="tree=MeSH" title="MedGen record for Esophageal bleeding">Esophageal bleeding</a></span><ul><li><span class="TLline"><a href="/medgen/57840" ref="tree=MeSH" title="MedGen record for Esophageal varices with bleeding">Esophageal varices with bleeding</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66720" ref="tree=MeSH" title="MedGen record for Gastric hemorrhage">Gastric hemorrhage</a></span><ul><li><span class="TLline"><a href="/medgen/57500" ref="tree=MeSH" title="MedGen record for Duodenal ulcer with hemorrhage">Duodenal ulcer with hemorrhage</a></span></li></ul></li></ul></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_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_2212"><div><strong>Bernard Soulier syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2212</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)&#10;Click for more information.">C0005129</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511).&#13; Genetic Heterogeneity of Platelet-Type Bleeding Disorders&#13; Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by Cox et al., 2011 and Nurden and Nurden, 2011).&#13; Platelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; 273800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; pseudo-von Willebrand disease (BDPLT3; 177820), caused by mutation in the GP1BA gene (606672); gray platelet syndrome (BDPLT4; 139090), caused by mutation in the NBEAL2 gene (614169); Quebec platelet disorder (BDPLT5; 601709), caused by tandem duplication of the PLAU gene (191840); May-Hegglin anomaly (BDPLT6; 155100), caused by mutation in the MYH9 gene (160775); Scott syndrome (BDPLT7; 262890), caused by mutation in the TMEM16F gene (608663); BDPLT8 (609821), caused by mutation in the P2RY12 gene (600515); BDPLT9 (614200), associated with deficiency of the glycoprotein Ia/IIa receptor (see ITGA2; 192974); glycoprotein IV deficiency (BDPLT10; 608404), caused by mutation in the CD36 gene (173510); BDPLT11 (614201), caused by mutation in the GP6 gene (605546); BDPLT12 (605735), associated with a deficiency of platelet COX1 (176805); susceptibility to BDPLT13 (614009), caused by mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene (614958); BDPLT21 (617443), caused by mutation in the FLI1 gene (193067); BDPLT22 (618462), caused by mutation in the EPHB2 gene (600997); BDPLT23 (619267), caused by mutation in the ITGB3 gene (173470); BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470); and BDPLT25 (620486), caused by mutation in the TPM4 gene (600317).&#13; See reviews by Rao (2003), Cox et al. (2011), and Nurden and Nurden (2011).&#13; For a discussion of the genetic heterogeneity of hereditary thrombocytopenia, see THC1 (313900).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2212">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_945"><div><strong>Hereditary factor IX deficiency disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>945</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)&#10;Click for more information.">C0008533</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Individuals with severe hemophilia B are usually diagnosed during the first two years of life. Without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month, including spontaneous joint or muscle bleeds, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia B seldom have spontaneous bleeding, although it varies between individuals; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years. The frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions. The frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B). As in males, bleeding severity generally correlates with factor levels. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_42105"><div><strong>Hereditary fructosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42105</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)&#10;Click for more information.">C0016751</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia) and clinical findings (nausea, vomiting, and abdominal distress; chronic growth restriction / failure to thrive). While untreated HFI typically first manifested when fructose- and sucrose-containing foods were introduced in the course of weaning young infants from breast milk, it is now presenting earlier, due to the addition of fructose-containing nutrients in infant formulas. If the infant ingests large quantities of fructose, the infant may acutely develop lethargy, seizures, and/or progressive coma. Untreated HFI may result in renal and hepatic failure. If identified and treated before permanent organ injury occurs, individuals with HFI can experience a normal quality of life and life expectancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42105">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_45996"><div><strong>Acquired polycythemia vera</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45996</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)&#10;Click for more information.">C0032463</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45996">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_52736"><div><strong>Glanzmann thrombasthenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52736</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)&#10;Click for more information.">C0040015</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/52736">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_113138"><div><strong>Malignant atrophic papulosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113138</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)&#10;Click for more information.">C0221011</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113138">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75672"><div><strong>Ehlers-Danlos syndrome, kyphoscoliotic type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75672</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)&#10;Click for more information.">C0268342</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS) is characterized by hypotonia, generalized joint hypermobility, early-onset kyphoscoliosis, skin fragility, and ocular abnormality. Intelligence is normal. Life span may be normal, but affected individuals are at risk of life-threatening arterial ruptures and spontaneous dissections of medium-sized arteries. Adults with severe kyphoscoliosis are at risk for complications from restrictive lung disease, recurrent pneumonia, and cardiac failure.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75672">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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)&#10;Click for more information.">C0268490</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75688">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_124425"><div><strong>Congenital prothrombin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124425</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)&#10;Click for more information.">C0272317</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/124425">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_450547"><div><strong>Reynolds syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>450547</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)&#10;Click for more information.">C0748397</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/450547">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_220393"><div><strong>von Willebrand disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220393</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)&#10;Click for more information.">C1264039</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Von Willebrand disease (VWD) is characterized by mucocutaneous bleeding and excessive bleeding with trauma and procedures. Individuals with more severe forms of VWD are also at-risk for musculoskeletal bleeding. Mucocutaneous bleeding can include easy bruising, prolonged bleeding from minor wounds, epistaxis, oral cavity bleeding, heavy menstrual bleeding, gastrointestinal bleeding, and bleeding with hemostatic challenges such as dental work, childbirth, and surgery. Bleeding severity can vary widely in VWD, even between affected individuals within the same family. For some with VWD the bleeding phenotype may only become apparent upon hemostatic challenge, while others may have frequent spontaneous bleeding.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/220393">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_226898"><div><strong>Hereditary neurocutaneous angiomata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226898</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)&#10;Click for more information.">C1275084</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/226898">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_698415"><div><strong>Autosomal recessive inherited pseudoxanthoma elasticum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>698415</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)&#10;Click for more information.">C1275116</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/698415">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_226899"><div><strong>TNF receptor-associated periodic fever syndrome (TRAPS)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>226899</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)&#10;Click for more information.">C1275126</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">TNF receptor-associated periodic fever syndrome (TRAPS) is characterized by episodes of inflammation typically occurring every four to six weeks and lasting between five and 25 days. Flares may be prompted by stress, infection, trauma, hormonal changes, and vaccination. Symptoms may include fever, abdominal pain, arthralgia, myalgia, migratory rash, and eye inflammation, with variable severity. Symptoms often begin in early childhood (median age 4.3 years), though symptom onset can occur later in life. During a flare, acute-phase reactants such as C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and serum amyloid A are typically elevated. Generally, acute-phase reactants stabilize between flares but may remain somewhat elevated even in the absence of clinical symptoms. AA amyloidosis, the most severe sequela of TRAPS, can largely be avoided with adequate treatment. Proteinuria and kidney failure occur in 80%-90% of affected individuals with amyloidosis, while intestinal, thyroid, myocardium, liver, and spleen deposits are less common.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/226899">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349065"><div><strong>Autoimmune lymphoproliferative syndrome type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349065</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)&#10;Click for more information.">C1858968</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349065">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_348124"><div><strong>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348124</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)&#10;Click for more information.">C1860518</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small-vessel disease that affects highly vascularized tissues including the retina, brain, liver, and kidneys. Age of onset is often between 35 and 50 years. The most common presenting finding is decreased visual acuity and/or visual field defects. Neurologic manifestations may include hemiparesis, facial weakness, aphasia, and hemianopsia. Migraines and seizures are less frequently described. Renal manifestations may include mild-to-moderate increase in serum creatinine and mild proteinuria; progression to end-stage renal disease (ESRD) is uncommon. Hepatic manifestations frequently include mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT). Less common findings include psychiatric disorders, hypertension, mild-to-moderate anemia, and Raynaud phenomenon.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/348124">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_396078"><div><strong>Platelet-type bleeding disorder 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396078</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)&#10;Click for more information.">C1861194</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/396078">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_357280"><div><strong>Pseudoxanthoma elasticum, forme fruste</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357280</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)&#10;Click for more information.">C1867450</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/357280">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</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)&#10;Click for more information.">C3151445</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/462795">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)&#10;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_1643786"><div><strong>Telangiectasia, hereditary hemorrhagic, type 1</strong><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)&#10;Click for more information.">C4551861</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">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.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1643786">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1673822"><div><strong>Bleeding disorder, platelet-type, 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673822</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)&#10;Click for more information.">C5193111</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1673822">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841133"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841133</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)&#10;Click for more information.">C5830497</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebroretinal microangiopathy with calcifications and cysts-3 (CRMCC3) is an autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Additional features may include global developmental delay and gastrointestinal ectasias. Telomeres may be elongated, but truncated shortened telomeres are present in some tissues (Takai et al., 2016).&#13; For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (612199).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841133">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1853829"><div><strong>Bleeding disorder, vascular-type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853829</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)&#10;Click for more information.">C5935577</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Vascular-type bleeding disorder (BDVAS) is an autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Features include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. Platelet function is normal and platelet transfusion does not alleviate the bleeding (Stritt et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1853829">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_45996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acquired polycythemia vera</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune lymphoproliferative syndrome type 2A</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_698415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inherited pseudoxanthoma elasticum</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bernard Soulier syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1673822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bleeding disorder, platelet-type, 22</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1853829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bleeding disorder, vascular-type</a></div>
<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_1841133" 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 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital prothrombin deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, kyphoscoliotic type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_52736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glanzmann thrombasthenia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary factor IX deficiency disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary fructosuria</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary neurocutaneous angiomata</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant atrophic papulosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_396078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Platelet-type bleeding disorder 17</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudoxanthoma elasticum, forme fruste</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_450547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reynolds syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1643786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia, hereditary hemorrhagic, type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_226899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">TNF receptor-associated periodic fever syndrome (TRAPS)</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">von Willebrand disease type 1</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/35629984">Inflammatory Bowel Disease: Clinical Diagnosis and Surgical Treatment-Overview.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">M'Koma AE</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2022 Apr 21;58(5)
doi: 10.3390/medicina58050567.
<span class="bold">PMID: </span><a href="/pubmed/35629984" target="_blank">35629984</a><a href="/pmc/articles/PMC9144337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33567467">Endoscopic diagnosis and management of nonvariceal upper gastrointestinal hemorrhage (NVUGIH): European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Update 2021.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gralnek IM,
Stanley AJ,
Morris AJ,
Camus M,
Lau J,
Lanas A,
Laursen SB,
Radaelli F,
Papanikolaou IS,
Cúrdia Gonçalves T,
Dinis-Ribeiro M,
Awadie H,
Braun G,
de Groot N,
Udd M,
Sanchez-Yague A,
Neeman Z,
van Hooft JE</span><br />
<span class="medgenPMjournal">Endoscopy</span>
2021 Mar;53(3):300-332.
Epub 2021 Feb 10
doi: 10.1055/a-1369-5274.
<span class="bold">PMID: </span><a href="/pubmed/33567467" target="_blank">33567467</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33362380">Diagnosis and treatment of iron-deficiency anemia in gastrointestinal bleeding: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cotter J,
Baldaia C,
Ferreira M,
Macedo G,
Pedroto I</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2020 Dec 7;26(45):7242-7257.
doi: 10.3748/wjg.v26.i45.7242.
<span class="bold">PMID: </span><a href="/pubmed/33362380" target="_blank">33362380</a><a href="/pmc/articles/PMC7723662" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gastrointestinal%20hemorrhage%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 (298)</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/38656758">Lower Gastrointestinal Hemorrhage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Imran H,
Alexander JT,
Jackson CD</span><br />
<span class="medgenPMjournal">JAMA</span>
2024 May 21;331(19):1666-1667.
doi: 10.1001/jama.2023.25841.
<span class="bold">PMID: </span><a href="/pubmed/38656758" target="_blank">38656758</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35130044">Acute Gastrointestinal Bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tokar JL,
Higa JT</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
2022 Feb;175(2):ITC17-ITC32.
Epub 2022 Feb 8
doi: 10.7326/AITC202202150.
<span class="bold">PMID: </span><a href="/pubmed/35130044" target="_blank">35130044</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32216134">Treatment of upper gastrointestinal bleeding in 2020: New techniques and outcomes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lau LHS,
Sung JJY</span><br />
<span class="medgenPMjournal">Dig Endosc</span>
2021 Jan;33(1):83-94.
Epub 2020 May 20
doi: 10.1111/den.13674.
<span class="bold">PMID: </span><a href="/pubmed/32216134" target="_blank">32216134</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31785737">Changing epidemiology and etiology of upper and lower gastrointestinal bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oakland K</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
2019 Oct-Dec;42-43:101610.
Epub 2019 Apr 17
doi: 10.1016/j.bpg.2019.04.003.
<span class="bold">PMID: </span><a href="/pubmed/31785737" target="_blank">31785737</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30947833">Upper Gastrointestinal Bleeding: Etiologies and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kamboj AK,
Hoversten P,
Leggett CL</span><br />
<span class="medgenPMjournal">Mayo Clin Proc</span>
2019 Apr;94(4):697-703.
doi: 10.1016/j.mayocp.2019.01.022.
<span class="bold">PMID: </span><a href="/pubmed/30947833" target="_blank">30947833</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gastrointestinal%20hemorrhage%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 (12643)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37756349">Upper Gastrointestinal Bleeding: Evaluation and Diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Gastroenterol Nurs</span>
2023 Sep-Oct 01;46(5):E10.
doi: 10.1097/SGA.0000000000000784.
<span class="bold">PMID: </span><a href="/pubmed/37756349" target="_blank">37756349</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35635400">Obscure-overt gastrointestinal bleeding: a review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Awadie H,
Zoabi A,
Gralnek IM</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2022 May 30;132(5)
doi: 10.20452/pamw.16253.
<span class="bold">PMID: </span><a href="/pubmed/35635400" target="_blank">35635400</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35130044">Acute Gastrointestinal Bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tokar JL,
Higa JT</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
2022 Feb;175(2):ITC17-ITC32.
Epub 2022 Feb 8
doi: 10.7326/AITC202202150.
<span class="bold">PMID: </span><a href="/pubmed/35130044" target="_blank">35130044</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34599054">Gastrointestinal Bleeds.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baker RD,
Baker SS</span><br />
<span class="medgenPMjournal">Pediatr Rev</span>
2021 Oct;42(10):546-557.
doi: 10.1542/pir.2020-000554.
<span class="bold">PMID: </span><a href="/pubmed/34599054" target="_blank">34599054</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30243447">Lower Gastrointestinal Bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Whitehurst BD</span><br />
<span class="medgenPMjournal">Surg Clin North Am</span>
2018 Oct;98(5):1059-1072.
Epub 2018 Jul 17
doi: 10.1016/j.suc.2018.06.007.
<span class="bold">PMID: </span><a href="/pubmed/30243447" target="_blank">30243447</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gastrointestinal%20hemorrhage%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 (13335)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39297500">Endoscopic therapy for gastrointestinal angiodysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alhamid A,
Aljarad Z,
Chaar A,
Grimshaw A,
Hanafi I</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2024 Sep 19;9(9):CD014582.
doi: 10.1002/14651858.CD014582.
<span class="bold">PMID: </span><a href="/pubmed/39297500" target="_blank">39297500</a><a href="/pmc/articles/PMC11411905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38874580">Proton-Pump Inhibitors to Prevent Gastrointestinal Bleeding - An Updated Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
Parpia S,
Ge L,
Heels-Ansdell D,
Lai H,
Esfahani MA,
Pan B,
Alhazzani W,
Schandelmaier S,
Lauzier F,
Arabi Y,
Barletta J,
Deane A,
Finfer S,
Williamson D,
Kanji S,
Møller MH,
Perner A,
Krag M,
Young PJ,
Dionne JC,
Hammond N,
Ye Z,
Ibrahim Q,
Cook D</span><br />
<span class="medgenPMjournal">NEJM Evid</span>
2024 Jul;3(7):EVIDoa2400134.
Epub 2024 Jun 14
doi: 10.1056/EVIDoa2400134.
<span class="bold">PMID: </span><a href="/pubmed/38874580" target="_blank">38874580</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38158089">Standard of Care Versus Octreotide in Angiodysplasia-Related Bleeding (the OCEAN Study): A Multicenter Randomized Controlled Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goltstein LCMJ,
Grooteman KV,
Bernts LHP,
Scheffer RCH,
Laheij RJF,
Gilissen LPL,
Schrauwen RWM,
Talstra NC,
Zuur AT,
Braat H,
Hadithi M,
Brouwer JT,
Nagengast WB,
Oort FA,
Tenthof van Noorden J,
Kievit W,
van Geenen EJM,
Drenth JPH</span><br />
<span class="medgenPMjournal">Gastroenterology</span>
2024 Apr;166(4):690-703.
Epub 2023 Dec 28
doi: 10.1053/j.gastro.2023.12.020.
<span class="bold">PMID: </span><a href="/pubmed/38158089" target="_blank">38158089</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33041136">Tranexamic acid for gastrointestinal bleeding: A systematic review with meta-analysis of randomized clinical trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee PL,
Yang KS,
Tsai HW,
Hou SK,
Kang YN,
Chang CC</span><br />
<span class="medgenPMjournal">Am J Emerg Med</span>
2021 Jul;45:269-279.
Epub 2020 Aug 29
doi: 10.1016/j.ajem.2020.08.062.
<span class="bold">PMID: </span><a href="/pubmed/33041136" target="_blank">33041136</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24833682">Corticosteroids and risk of gastrointestinal bleeding: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Narum S,
Westergren T,
Klemp M</span><br />
<span class="medgenPMjournal">BMJ Open</span>
2014 May 15;4(5):e004587.
doi: 10.1136/bmjopen-2013-004587.
<span class="bold">PMID: </span><a href="/pubmed/24833682" target="_blank">24833682</a><a href="/pmc/articles/PMC4025450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gastrointestinal%20hemorrhage%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 (12669)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32673741">The PREDICT study uncovers three clinical courses of acutely decompensated cirrhosis that have distinct pathophysiology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trebicka J,
Fernandez J,
Papp M,
Caraceni P,
Laleman W,
Gambino C,
Giovo I,
Uschner FE,
Jimenez C,
Mookerjee R,
Gustot T,
Albillos A,
Bañares R,
Janicko M,
Steib C,
Reiberger T,
Acevedo J,
Gatti P,
Bernal W,
Zeuzem S,
Zipprich A,
Piano S,
Berg T,
Bruns T,
Bendtsen F,
Coenraad M,
Merli M,
Stauber R,
Zoller H,
Ramos JP,
Solè C,
Soriano G,
de Gottardi A,
Gronbaek H,
Saliba F,
Trautwein C,
Özdogan OC,
Francque S,
Ryder S,
Nahon P,
Romero-Gomez M,
Van Vlierberghe H,
Francoz C,
Manns M,
Garcia E,
Tufoni M,
Amoros A,
Pavesi M,
Sanchez C,
Curto A,
Pitarch C,
Putignano A,
Moreno E,
Shawcross D,
Aguilar F,
Clària J,
Ponzo P,
Jansen C,
Vitalis Z,
Zaccherini G,
Balogh B,
Vargas V,
Montagnese S,
Alessandria C,
Bernardi M,
Ginès P,
Jalan R,
Moreau R,
Angeli P,
Arroyo V;
PREDICT STUDY group of the EASL-CLIF Consortium</span><br />
<span class="medgenPMjournal">J Hepatol</span>
2020 Oct;73(4):842-854.
Epub 2020 Jul 13
doi: 10.1016/j.jhep.2020.06.013.
<span class="bold">PMID: </span><a href="/pubmed/32673741" target="_blank">32673741</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31785737">Changing epidemiology and etiology of upper and lower gastrointestinal bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oakland K</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
2019 Oct-Dec;42-43:101610.
Epub 2019 Apr 17
doi: 10.1016/j.bpg.2019.04.003.
<span class="bold">PMID: </span><a href="/pubmed/31785737" target="_blank">31785737</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30670909">Adverse events related to colonoscopy: Global trends and future challenges.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SY,
Kim HS,
Park HJ</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2019 Jan 14;25(2):190-204.
doi: 10.3748/wjg.v25.i2.190.
<span class="bold">PMID: </span><a href="/pubmed/30670909" target="_blank">30670909</a><a href="/pmc/articles/PMC6337013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11355906">Obscure digestive bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van Gossum A</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
2001 Feb;15(1):155-74.
doi: 10.1053/bega.2000.0161.
<span class="bold">PMID: </span><a href="/pubmed/11355906" target="_blank">11355906</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10842854">Gastrointestinal hemorrhage in patients with AIDS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chalasani N,
Wilcox CM</span><br />
<span class="medgenPMjournal">AIDS Patient Care STDS</span>
1999 Jun;13(6):343-6.
doi: 10.1089/apc.1999.13.343.
<span class="bold">PMID: </span><a href="/pubmed/10842854" target="_blank">10842854</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gastrointestinal%20hemorrhage%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 (7694)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/32499390">Prediction model of bleeding after endoscopic submucosal dissection for early gastric cancer: BEST-J score.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hatta W,
Tsuji Y,
Yoshio T,
Kakushima N,
Hoteya S,
Doyama H,
Nagami Y,
Hikichi T,
Kobayashi M,
Morita Y,
Sumiyoshi T,
Iguchi M,
Tomida H,
Inoue T,
Koike T,
Mikami T,
Hasatani K,
Nishikawa J,
Matsumura T,
Nebiki H,
Nakamatsu D,
Ohnita K,
Suzuki H,
Ueyama H,
Hayashi Y,
Sugimoto M,
Yamaguchi S,
Michida T,
Yada T,
Asahina Y,
Narasaka T,
Kuribasyashi S,
Kiyotoki S,
Mabe K,
Nakamura T,
Nakaya N,
Fujishiro M,
Masamune A</span><br />
<span class="medgenPMjournal">Gut</span>
2021 Mar;70(3):476-484.
Epub 2020 Jun 4
doi: 10.1136/gutjnl-2019-319926.
<span class="bold">PMID: </span><a href="/pubmed/32499390" target="_blank">32499390</a><a href="/pmc/articles/PMC7873424" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27908515">Intraoperative Enteroscopy: Is There Still a Role?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Voron T,
Rahmi G,
Bonnet S,
Malamut G,
Wind P,
Cellier C,
Berger A,
Douard R</span><br />
<span class="medgenPMjournal">Gastrointest Endosc Clin N Am</span>
2017 Jan;27(1):153-170.
doi: 10.1016/j.giec.2016.08.009.
<span class="bold">PMID: </span><a href="/pubmed/27908515" target="_blank">27908515</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23492985">Endovascular management of nonvariceal upper gastrointestinal hemorrhage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel-Aal AK,
Bag AK,
Saddekni S,
Hamed MF,
Ahmed FY</span><br />
<span class="medgenPMjournal">Eur J Gastroenterol Hepatol</span>
2013 Jul;25(7):755-63.
doi: 10.1097/MEG.0b013e32835fb9a9.
<span class="bold">PMID: </span><a href="/pubmed/23492985" target="_blank">23492985</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18790438">Endoscopic haemostasis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aabakken L</span><br />
<span class="medgenPMjournal">Best Pract Res Clin Gastroenterol</span>
2008;22(5):899-927.
doi: 10.1016/j.bpg.2008.05.002.
<span class="bold">PMID: </span><a href="/pubmed/18790438" target="_blank">18790438</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10387941">Occult gastrointestinal bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rockey DC</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
1999 Jul 1;341(1):38-46.
doi: 10.1056/NEJM199907013410107.
<span class="bold">PMID: </span><a href="/pubmed/10387941" target="_blank">10387941</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gastrointestinal%20hemorrhage%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 (5908)</a></div></div>
</div>
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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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/34709209">Tranexamic Acid in Gastrointestinal Bleeding: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dionne JC,
Oczkowski SJW,
Hunt BJ,
Antonelli M,
Wijnberge M,
Raasveld SJ,
Vlaar APJ;
for ESICM Transfusion Taskforce and the GUIDE Group</span><br />
<span class="medgenPMjournal">Crit Care Med</span>
2022 Mar 1;50(3):e313-e319.
doi: 10.1097/CCM.0000000000005362.
<span class="bold">PMID: </span><a href="/pubmed/34709209" target="_blank">34709209</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33362380">Diagnosis and treatment of iron-deficiency anemia in gastrointestinal bleeding: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cotter J,
Baldaia C,
Ferreira M,
Macedo G,
Pedroto I</span><br />
<span class="medgenPMjournal">World J Gastroenterol</span>
2020 Dec 7;26(45):7242-7257.
doi: 10.3748/wjg.v26.i45.7242.
<span class="bold">PMID: </span><a href="/pubmed/33362380" target="_blank">33362380</a><a href="/pmc/articles/PMC7723662" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31907166">Efficacy and safety of gastrointestinal bleeding prophylaxis in critically ill patients: systematic review and network meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
Ye Z,
Ge L,
Siemieniuk RAC,
Wang X,
Wang Y,
Hou L,
Ma Z,
Agoritsas T,
Vandvik PO,
Perner A,
Møller MH,
Guyatt GH,
Liu L</span><br />
<span class="medgenPMjournal">BMJ</span>
2020 Jan 6;368:l6744.
doi: 10.1136/bmj.l6744.
<span class="bold">PMID: </span><a href="/pubmed/31907166" target="_blank">31907166</a><a href="/pmc/articles/PMC7190057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30910853">Management of acute upper gastrointestinal bleeding.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stanley AJ,
Laine L</span><br />
<span class="medgenPMjournal">BMJ</span>
2019 Mar 25;364:l536.
doi: 10.1136/bmj.l536.
<span class="bold">PMID: </span><a href="/pubmed/30910853" target="_blank">30910853</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24833682">Corticosteroids and risk of gastrointestinal bleeding: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Narum S,
Westergren T,
Klemp M</span><br />
<span class="medgenPMjournal">BMJ Open</span>
2014 May 15;4(5):e004587.
doi: 10.1136/bmjopen-2013-004587.
<span class="bold">PMID: </span><a href="/pubmed/24833682" target="_blank">24833682</a><a href="/pmc/articles/PMC4025450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gastrointestinal%20hemorrhage%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 (502)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0017181%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
<li><a href="/gtr/tests?term=C0017181%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0017181%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Gastrointestinal%20hemorrhage" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gastrointestinal%20hemorrhage%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(%22Gastrointestinal%20hemorrhage%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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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Gastrointestinal%20hemorrhage" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Gastrointestinal%20hemorrhage" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Gastrointestinal%20hemorrhage%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=8971" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017181[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0017181[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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