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<meta name="keywords" content="C0850715, abnormality of blood and blood-forming tissues, abnormality of the haematopoietic system, abnormality of the hematopoietic system, finding, haematological abnormality, hematologic disease, hematological abnormality, 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="An abnormality of the hematopoietic system." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=163092
ConceptID=C0850715
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of blood and blood-forming tissues</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163092</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.">C0850715</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Abnormality of the haematopoietic system; Abnormality of the hematopoietic system; Haematological abnormality; Hematologic disease; Hematological abnormality</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:0001871">HP:0001871</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>
<div class="portlet mgSection" id="ID_100">
<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">An abnormality of the hematopoietic system. [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=C0850715[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=163092">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=163092" ref="ncbi_uid=163092">V</a></span></span><span class="TLline">Abnormality of blood and blood-forming tissues</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="matched_ds">Abnormality of blood and blood-forming tissues</span><ul><li><span class="TLline"><a href="/medgen/264316" ref="tree=MeSH" title="MedGen record for Abnormal bleeding">Abnormal bleeding</a></span><ul><li><span class="TLline"><a href="/medgen/894774" ref="tree=MeSH" title="MedGen record for Abnormal onset of bleeding">Abnormal onset of bleeding</a></span><ul><li><span class="TLline"><a href="/medgen/895284" ref="tree=MeSH" title="MedGen record for Delayed onset bleeding">Delayed onset bleeding</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868740" ref="tree=MeSH" title="MedGen record for Abnormal umbilical stump bleeding">Abnormal umbilical stump bleeding</a></span></li><li><span class="TLline"><a href="/medgen/868739" ref="tree=MeSH" title="MedGen record for Bleeding requiring red cell transfusion">Bleeding requiring red cell transfusion</a></span></li><li><span class="TLline"><a href="/medgen/868738" ref="tree=MeSH" title="MedGen record for Bleeding with minor or no trauma">Bleeding with minor or no trauma</a></span></li><li><span class="TLline"><a href="/medgen/2951" ref="tree=MeSH" title="MedGen record for Cephalohematoma">Cephalohematoma</a></span></li><li><span class="TLline"><a href="/medgen/4996" ref="tree=MeSH" title="MedGen record for Epistaxis">Epistaxis</a></span><ul><li><span class="TLline"><a href="/medgen/816045" ref="tree=MeSH" title="MedGen record for Spontaneous, recurrent epistaxis">Spontaneous, recurrent epistaxis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868217" ref="tree=MeSH" title="MedGen record for Excessive bleeding after a venipuncture">Excessive bleeding after a venipuncture</a></span></li><li><span class="TLline"><a href="/medgen/868218" ref="tree=MeSH" title="MedGen record for Excessive bleeding from superficial cuts">Excessive bleeding from superficial cuts</a></span></li><li><span class="TLline"><a href="/medgen/42218" ref="tree=MeSH" title="MedGen record for Gingival bleeding">Gingival bleeding</a></span></li><li><span class="TLline"><a href="/medgen/44358" ref="tree=MeSH" title="MedGen record for Menorrhagia">Menorrhagia</a></span></li><li><span class="TLline"><a href="/medgen/375403" ref="tree=MeSH" title="MedGen record for Persistent bleeding after trauma">Persistent bleeding after trauma</a></span></li><li><span class="TLline"><a href="/medgen/868737" ref="tree=MeSH" title="MedGen record for Prolonged bleeding following procedure">Prolonged bleeding following procedure</a></span><ul><li><span class="TLline"><a href="/medgen/18592" ref="tree=MeSH" title="MedGen record for Post-partum hemorrhage">Post-partum hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/369536" ref="tree=MeSH" title="MedGen record for Prolonged bleeding after dental extraction">Prolonged bleeding after dental extraction</a></span></li><li><span class="TLline"><a href="/medgen/867284" ref="tree=MeSH" title="MedGen record for Prolonged bleeding after surgery">Prolonged bleeding after surgery</a></span></li><li><span class="TLline"><a href="/medgen/868219" ref="tree=MeSH" title="MedGen record for Prolonged bleeding following circumcision">Prolonged bleeding following circumcision</a></span></li></ul></li><li><span 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count</a></span></li><li><span class="TLline"><a href="/medgen/870733" ref="tree=MeSH" title="MedGen record for Increased megakaryocyte count">Increased megakaryocyte count</a></span></li><li><span class="TLline"><a href="/medgen/1626370" ref="tree=MeSH" title="MedGen record for Increased micromegakaryocyte count">Increased micromegakaryocyte count</a></span></li><li><span class="TLline"><a href="/medgen/1616106" ref="tree=MeSH" title="MedGen record for Increased multinucleated megakaryocyte count">Increased multinucleated megakaryocyte count</a></span></li><li><span class="TLline"><a href="/medgen/1611304" ref="tree=MeSH" title="MedGen record for Megakaryocyte dysplasia">Megakaryocyte dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1619804" ref="tree=MeSH" title="MedGen record for Megakaryocyte nucleus hyperlobulation">Megakaryocyte nucleus hyperlobulation</a></span></li><li><span class="TLline"><a href="/medgen/1614231" ref="tree=MeSH" title="MedGen record for 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lymphocytes</a></span></li><li><span class="TLline"><a href="/medgen/1841688" ref="tree=MeSH" title="MedGen record for Bone marrow xanthomatosis">Bone marrow xanthomatosis</a></span></li><li><span class="TLline"><a href="/medgen/714392" ref="tree=MeSH" title="MedGen record for Increased bone marrow iron">Increased bone marrow iron</a></span></li><li><span class="TLline"><a href="/medgen/1863684" ref="tree=MeSH" title="MedGen record for Lipid-laden bone-marrow macrophages">Lipid-laden bone-marrow macrophages</a></span></li><li><span class="TLline"><a href="/medgen/90735" ref="tree=MeSH" title="MedGen record for Lymphoid hyperplasia">Lymphoid hyperplasia</a></span><ul><li><span class="TLline"><a href="/medgen/67450" ref="tree=MeSH" title="MedGen record for Pseudolymphoma">Pseudolymphoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1644559" ref="tree=MeSH" title="MedGen record for Reduced bone-marrow pro-B cell count">Reduced bone-marrow pro-B cell count</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1842125" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte adenosine triphosphate concentration">Abnormal erythrocyte adenosine triphosphate concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1842068" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte adenosine triphosphate concentration">Elevated erythrocyte adenosine triphosphate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841667" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte adenosine triphosphate concentration">Reduced erythrocyte adenosine triphosphate concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841906" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte metabolite concentration">Abnormal erythrocyte metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1864064" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte AICA-ribotide concentration">Elevated erythrocyte AICA-ribotide concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864197" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte galactose-1-phosphate concentration">Elevated erythrocyte galactose-1-phosphate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863960" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte inosine triphosphate concentration">Elevated erythrocyte inosine triphosphate concentration</a></span></li><li><span class="TLline"><a href="/medgen/868155" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte 2,3-diphosphoglycerate concentration">Reduced erythrocyte 2,3-diphosphoglycerate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841986" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte glutathione concentration">Reduced erythrocyte glutathione concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1630947" ref="tree=MeSH" title="MedGen record for Abnormal hematocrit">Abnormal hematocrit</a></span><ul><li><span class="TLline"><a href="/medgen/68692" ref="tree=MeSH" title="MedGen record for Increased hematocrit">Increased hematocrit</a></span></li><li><span class="TLline"><a href="/medgen/1630955" ref="tree=MeSH" title="MedGen record for Reduced hematocrit">Reduced hematocrit</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/776552" ref="tree=MeSH" title="MedGen record for Abnormal hemoglobin">Abnormal hemoglobin</a></span><ul><li><span class="TLline"><a href="/medgen/892798" ref="tree=MeSH" title="MedGen record for Elevated hemoglobin A1c">Elevated hemoglobin A1c</a></span></li><li><span class="TLline"><a href="/medgen/1688191" ref="tree=MeSH" title="MedGen record for HbC hemoglobin">HbC hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/42397" ref="tree=MeSH" title="MedGen record for HbH hemoglobin">HbH hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/924209" ref="tree=MeSH" title="MedGen record for HbS hemoglobin">HbS hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/29772" ref="tree=MeSH" title="MedGen record for Hemoglobin Barts">Hemoglobin Barts</a></span></li><li><span class="TLline"><a href="/medgen/870723" ref="tree=MeSH" title="MedGen record for Imbalanced hemoglobin synthesis">Imbalanced hemoglobin synthesis</a></span></li><li><span class="TLline"><a href="/medgen/893100" ref="tree=MeSH" title="MedGen record for Increased HbA2 hemoglobin">Increased HbA2 hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/6339" ref="tree=MeSH" title="MedGen record for Methemoglobinemia">Methemoglobinemia</a></span></li><li><span class="TLline"><a href="/medgen/68693" ref="tree=MeSH" title="MedGen record for Persistence of hemoglobin F">Persistence of hemoglobin F</a></span></li><li><span class="TLline"><a href="/medgen/868733" ref="tree=MeSH" title="MedGen record for Reduced hemoglobin A">Reduced hemoglobin A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1671071" ref="tree=MeSH" title="MedGen record for Abnormal hemoglobin concentration">Abnormal hemoglobin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1670936" ref="tree=MeSH" title="MedGen record for Decreased hemoglobin concentration">Decreased hemoglobin concentration</a></span></li><li><span class="TLline"><a href="/medgen/108199" ref="tree=MeSH" title="MedGen record for Increased circulating hemoglobin concentration">Increased circulating hemoglobin concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/663424" ref="tree=MeSH" title="MedGen record for Abnormal mean corpuscular hemoglobin concentration">Abnormal mean corpuscular hemoglobin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/605648" ref="tree=MeSH" title="MedGen record for Decreased mean corpuscular hemoglobin concentration">Decreased mean corpuscular hemoglobin concentration</a></span></li><li><span class="TLline"><a href="/medgen/605654" ref="tree=MeSH" title="MedGen record for Increased mean corpuscular hemoglobin concentration">Increased mean corpuscular hemoglobin concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1648289" ref="tree=MeSH" title="MedGen record for Abnormal mean corpuscular volume">Abnormal mean corpuscular volume</a></span><ul><li><span class="TLline"><a href="/medgen/1375398" ref="tree=MeSH" title="MedGen record for Decreased mean corpuscular volume">Decreased mean corpuscular volume</a></span></li><li><span class="TLline"><a href="/medgen/81303" ref="tree=MeSH" title="MedGen record for Increased mean corpuscular volume">Increased mean corpuscular volume</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868633" ref="tree=MeSH" title="MedGen record for Abnormal number of erythroid precursors">Abnormal number of erythroid precursors</a></span><ul><li><span class="TLline"><a href="/medgen/4536" ref="tree=MeSH" title="MedGen record for Erythroid hyperplasia">Erythroid hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/488912" ref="tree=MeSH" title="MedGen record for Erythroid hypoplasia">Erythroid hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/11154" ref="tree=MeSH" title="MedGen record for Pure red-cell aplasia">Pure red-cell aplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/663423" ref="tree=MeSH" title="MedGen record for Abnormal red blood cell count">Abnormal red blood cell count</a></span><ul><li><span class="TLline"><a href="/medgen/605665" ref="tree=MeSH" title="MedGen record for Decreased red blood cell count">Decreased red blood cell count</a></span></li><li><span class="TLline"><a href="/medgen/605666" ref="tree=MeSH" title="MedGen record for Increased red blood cell count">Increased red blood cell count</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870896" ref="tree=MeSH" title="MedGen record for Abnormal reticulocyte morphology">Abnormal reticulocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/90731" ref="tree=MeSH" title="MedGen record for Polychromasia">Polychromasia</a></span></li><li><span class="TLline"><a href="/medgen/167812" ref="tree=MeSH" title="MedGen record for Reticulocytopenia">Reticulocytopenia</a></span></li><li><span class="TLline"><a href="/medgen/60089" ref="tree=MeSH" title="MedGen record for Reticulocytosis">Reticulocytosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/507442" ref="tree=MeSH" title="MedGen record for Anemia due to chronic disorder">Anemia due to chronic disorder</a></span></li><li><span class="TLline"><a href="/medgen/1388746" ref="tree=MeSH" title="MedGen record for Anemia due to Decreased Production">Anemia due to Decreased Production</a></span></li><li><span class="TLline"><a href="/medgen/1921" ref="tree=MeSH" title="MedGen record for Anemia due to Disorder of Glutathione Metabolism">Anemia due to Disorder of Glutathione Metabolism</a></span></li><li><span class="TLline"><a href="/medgen/141648" ref="tree=MeSH" title="MedGen record for Anemia due to disorders of nucleotide metabolism">Anemia due to disorders of nucleotide metabolism</a></span></li><li><span class="TLline"><a href="/medgen/105411" ref="tree=MeSH" title="MedGen record for Anemia due to enzyme disorder">Anemia due to enzyme disorder</a></span></li><li><span class="TLline"><a href="/medgen/1377882" ref="tree=MeSH" title="MedGen record for Anemia due to Increased Destruction">Anemia due to Increased Destruction</a></span></li><li><span class="TLline"><a href="/medgen/866761" ref="tree=MeSH" title="MedGen record for Anemia due to reduced life span of red cells">Anemia due to reduced life span of red cells</a></span></li><li><span class="TLline"><a href="/medgen/95937" ref="tree=MeSH" title="MedGen record for Anemia of inadequate production">Anemia of inadequate production</a></span></li><li><span class="TLline"><a href="/medgen/472907" ref="tree=MeSH" title="MedGen record for Anemia of prematurity">Anemia of prematurity</a></span></li><li><span class="TLline"><a href="/medgen/8063" ref="tree=MeSH" title="MedGen record for Aplastic anemia">Aplastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/102361" ref="tree=MeSH" title="MedGen record for Congenital anemia">Congenital anemia</a></span></li><li><span class="TLline"><a href="/medgen/1916" ref="tree=MeSH" title="MedGen record for Hemolytic anemia">Hemolytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/87187" ref="tree=MeSH" title="MedGen record for Hypochromia">Hypochromia</a></span></li><li><span class="TLline"><a href="/medgen/8065" ref="tree=MeSH" title="MedGen record for Hypochromic anemia">Hypochromic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1920" ref="tree=MeSH" title="MedGen record for Macrocytic anemia">Macrocytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1673948" ref="tree=MeSH" title="MedGen record for Microcytic anemia">Microcytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/388097" ref="tree=MeSH" title="MedGen record for Mild Anemia">Mild Anemia</a></span></li><li><span class="TLline"><a href="/medgen/1529" ref="tree=MeSH" title="MedGen record for Myelophthisic anemia">Myelophthisic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1530" ref="tree=MeSH" title="MedGen record for Neonatal anemia">Neonatal anemia</a></span></li><li><span class="TLline"><a href="/medgen/39310" ref="tree=MeSH" title="MedGen record for Normocytic anemia">Normocytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/233903" ref="tree=MeSH" title="MedGen record for Radiation Anemia">Radiation Anemia</a></span></li><li><span class="TLline"><a href="/medgen/286" ref="tree=MeSH" title="MedGen record for Refractory anemia">Refractory anemia</a></span></li><li><span class="TLline"><a href="/medgen/8067" ref="tree=MeSH" title="MedGen record for Sideroblastic anemia">Sideroblastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1679264" ref="tree=MeSH" title="MedGen record for Steroid-responsive anemia">Steroid-responsive anemia</a></span></li><li><span class="TLline"><a href="/medgen/909652" ref="tree=MeSH" title="MedGen record for Transient erythroblastopenia">Transient erythroblastopenia</a></span></li><li><span class="TLline"><a href="/medgen/277833" ref="tree=MeSH" title="MedGen record for Treatment-Induced Anemia">Treatment-Induced Anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66371" ref="tree=MeSH" title="MedGen record for Anisocytosis">Anisocytosis</a></span></li><li><span class="TLline"><a href="/medgen/869198" ref="tree=MeSH" title="MedGen record for Blood group antigen abnormality">Blood group antigen abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/869197" ref="tree=MeSH" title="MedGen record for Absence of Lutheran antigen on erythrocytes">Absence of Lutheran antigen on erythrocytes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1785393" ref="tree=MeSH" title="MedGen record for Circulating nucleated red blood cells">Circulating nucleated red blood cells</a></span></li><li><span class="TLline"><a href="/medgen/868632" ref="tree=MeSH" title="MedGen record for Dysplastic erythropoesis">Dysplastic erythropoesis</a></span></li><li><span class="TLline"><a href="/medgen/1670950" ref="tree=MeSH" title="MedGen record for Erythrocyte inclusion bodies">Erythrocyte inclusion bodies</a></span><ul><li><span class="TLline"><a href="/medgen/42375" ref="tree=MeSH" title="MedGen record for Heinz bodies">Heinz bodies</a></span></li><li><span class="TLline"><a href="/medgen/5644" ref="tree=MeSH" title="MedGen record for Howell-Jolly bodies">Howell-Jolly bodies</a></span></li><li><span class="TLline"><a href="/medgen/137696" ref="tree=MeSH" title="MedGen record for Pappenheimer bodies">Pappenheimer bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1689163" ref="tree=MeSH" title="MedGen record for Increased Burr cell count">Increased Burr cell count</a></span></li><li><span class="TLline"><a href="/medgen/1630967" ref="tree=MeSH" title="MedGen record for Increased RBC distribution width">Increased RBC distribution width</a></span></li><li><span class="TLline"><a href="/medgen/67451" ref="tree=MeSH" title="MedGen record for Poikilocytosis">Poikilocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/195801" ref="tree=MeSH" title="MedGen record for Acanthocytosis">Acanthocytosis</a></span></li><li><span class="TLline"><a href="/medgen/436556" ref="tree=MeSH" title="MedGen record for Anisopoikilocytosis">Anisopoikilocytosis</a></span></li><li><span class="TLline"><a href="/medgen/699462" ref="tree=MeSH" title="MedGen record for Bite cells">Bite cells</a></span></li><li><span class="TLline"><a href="/medgen/754503" ref="tree=MeSH" title="MedGen record for Dacryocytosis">Dacryocytosis</a></span></li><li><span class="TLline"><a href="/medgen/98107" ref="tree=MeSH" title="MedGen record for Elliptocytosis">Elliptocytosis</a></span></li><li><span class="TLline"><a href="/medgen/1687045" ref="tree=MeSH" title="MedGen record for Oval macrocytosis">Oval macrocytosis</a></span></li><li><span class="TLline"><a href="/medgen/141708" ref="tree=MeSH" title="MedGen record for Pyropoikilocytosis, hereditary">Pyropoikilocytosis, hereditary</a></span></li><li><span class="TLline"><a href="/medgen/867274" ref="tree=MeSH" title="MedGen record for Red blood cell keratocytosis">Red blood cell keratocytosis</a></span></li><li><span class="TLline"><a href="/medgen/576247" ref="tree=MeSH" title="MedGen record for Schistocytosis">Schistocytosis</a></span></li><li><span class="TLline"><a href="/medgen/807382" ref="tree=MeSH" title="MedGen record for Sickled erythrocytes">Sickled erythrocytes</a></span></li><li><span class="TLline"><a href="/medgen/154301" ref="tree=MeSH" title="MedGen record for Spherocytosis">Spherocytosis</a></span></li><li><span class="TLline"><a href="/medgen/760280" ref="tree=MeSH" title="MedGen record for Stomatocytosis">Stomatocytosis</a></span></li><li><span class="TLline"><a href="/medgen/526211" ref="tree=MeSH" title="MedGen record for Target cells">Target cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18552" ref="tree=MeSH" title="MedGen record for Polycythemia">Polycythemia</a></span><ul><li><span class="TLline"><a href="/medgen/45996" ref="tree=MeSH" title="MedGen record for Acquired polycythemia vera">Acquired polycythemia vera</a></span></li><li><span class="TLline"><a href="/medgen/377869" ref="tree=MeSH" title="MedGen record for Increased red blood cell mass">Increased red blood cell mass</a></span></li><li><span class="TLline"><a href="/medgen/1812993" ref="tree=MeSH" title="MedGen record for Multiple paragangliomas associated with polycythemia">Multiple paragangliomas associated with polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/163107" ref="tree=MeSH" title="MedGen record for Polycythemia (Excluding Polycythemia Vera)">Polycythemia (Excluding Polycythemia Vera)</a></span></li><li><span class="TLline"><a href="/medgen/1641215" ref="tree=MeSH" title="MedGen record for Primary familial polycythemia due to EPO receptor mutation">Primary familial polycythemia due to EPO receptor mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/526212" ref="tree=MeSH" title="MedGen record for Rouleaux formation">Rouleaux formation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1670968" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte physiology">Abnormal erythrocyte physiology</a></span><ul><li><span class="TLline"><a href="/medgen/867285" ref="tree=MeSH" title="MedGen record for Increased hemoglobin oxygen affinity">Increased hemoglobin oxygen affinity</a></span></li><li><span class="TLline"><a href="/medgen/376594" ref="tree=MeSH" title="MedGen record for Increased red cell osmotic fragility">Increased red cell osmotic fragility</a></span></li><li><span class="TLline"><a href="/medgen/346950" ref="tree=MeSH" title="MedGen record for Increased red cell osmotic resistance">Increased red cell osmotic resistance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871247" ref="tree=MeSH" title="MedGen record for Abnormal thrombosis">Abnormal thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/56253" ref="tree=MeSH" title="MedGen record for Arterial thrombosis">Arterial thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/768731" ref="tree=MeSH" title="MedGen record for Arterial Thrombosis Related to Vascular Access Complication">Arterial Thrombosis Related to Vascular Access Complication</a></span></li><li><span class="TLline"><a href="/medgen/473092" ref="tree=MeSH" title="MedGen record for Thrombosis of abdominal aorta">Thrombosis of abdominal aorta</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41620" ref="tree=MeSH" title="MedGen record for Disseminated intravascular coagulation">Disseminated intravascular coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/868744" ref="tree=MeSH" title="MedGen record for Acute disseminated intravascular coagulation">Acute disseminated intravascular coagulation</a></span></li><li><span class="TLline"><a href="/medgen/354681" ref="tree=MeSH" title="MedGen record for Chronic disseminated intravascular coagulation">Chronic disseminated intravascular coagulation</a></span></li><li><span class="TLline"><a href="/medgen/510687" ref="tree=MeSH" title="MedGen record for Disseminated intravascular coagulation in newborn">Disseminated intravascular coagulation in newborn</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/668941" ref="tree=MeSH" title="MedGen record for Left ventricular thrombus">Left ventricular thrombus</a></span></li><li><span class="TLline"><a href="/medgen/337901" ref="tree=MeSH" title="MedGen record for Peripheral thrombosis">Peripheral thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/508040" ref="tree=MeSH" title="MedGen record for Phlebolith">Phlebolith</a></span></li><li><span class="TLline"><a href="/medgen/1863857" ref="tree=MeSH" title="MedGen record for Subcutaneous arteriolar thrombosis">Subcutaneous arteriolar thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/21532" ref="tree=MeSH" title="MedGen record for Thromboembolism">Thromboembolism</a></span><ul><li><span class="TLline"><a href="/medgen/824274" ref="tree=MeSH" title="MedGen record for Antepartum Obstetric Thromboembolism">Antepartum Obstetric Thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/1742891" ref="tree=MeSH" title="MedGen record for COVID-19-Associated Thromboembolism">COVID-19-Associated Thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/40190" ref="tree=MeSH" title="MedGen record for Intracranial Embolism and Thrombosis">Intracranial Embolism and Thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/116043" ref="tree=MeSH" title="MedGen record for Paradoxical embolism">Paradoxical embolism</a></span></li><li><span class="TLline"><a href="/medgen/821253" ref="tree=MeSH" title="MedGen record for Postpartum Obstetric Thromboembolism">Postpartum Obstetric Thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/141829" ref="tree=MeSH" title="MedGen record for Pulmonary thromboembolism">Pulmonary thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/892537" ref="tree=MeSH" title="MedGen record for Recurrent thromboembolism">Recurrent thromboembolism</a></span></li><li><span class="TLline"><a href="/medgen/568957" ref="tree=MeSH" title="MedGen record for Septic embolism">Septic embolism</a></span></li><li><span class="TLline"><a href="/medgen/488954" ref="tree=MeSH" title="MedGen record for Thromboembolic stroke">Thromboembolic stroke</a></span></li><li><span class="TLline"><a href="/medgen/348285" ref="tree=MeSH" title="MedGen record for Venous thromboembolism">Venous thromboembolism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/22631" ref="tree=MeSH" title="MedGen record for Venous thrombosis">Venous thrombosis</a></span><ul><li><span class="TLline"><a href="/medgen/163632" ref="tree=MeSH" title="MedGen record for Budd-Chiari syndrome">Budd-Chiari syndrome</a></span></li><li><span class="TLline"><a href="/medgen/57743" ref="tree=MeSH" title="MedGen record for Cerebral venous thrombosis">Cerebral venous thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/57448" ref="tree=MeSH" title="MedGen record for Deep venous thrombosis">Deep venous thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/403987" ref="tree=MeSH" title="MedGen record for Deep venous thrombosis of upper extremity">Deep venous thrombosis of upper extremity</a></span></li><li><span class="TLline"><a href="/medgen/902453" ref="tree=MeSH" title="MedGen record for Gonadal Thrombosis">Gonadal Thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/56372" ref="tree=MeSH" title="MedGen record for Portal vein thrombosis">Portal vein thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/472971" ref="tree=MeSH" title="MedGen record for Renal vein thrombosis">Renal vein thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/19763" ref="tree=MeSH" title="MedGen record for Retinal vein occlusion">Retinal vein occlusion</a></span></li><li><span class="TLline"><a href="/medgen/868168" ref="tree=MeSH" title="MedGen record for Splanchnic vein thrombosis">Splanchnic vein thrombosis</a></span></li><li><span class="TLline"><a href="/medgen/11799" ref="tree=MeSH" title="MedGen record for Thrombophlebitis">Thrombophlebitis</a></span></li><li><span class="TLline"><a href="/medgen/539039" ref="tree=MeSH" title="MedGen record for Thrombosis of vena cava">Thrombosis of vena cava</a></span></li><li><span class="TLline"><a href="/medgen/82924" ref="tree=MeSH" title="MedGen record for Venous stasis syndrome">Venous stasis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/768732" ref="tree=MeSH" title="MedGen record for Venous Thrombosis Related to Vascular Access Complication">Venous Thrombosis Related to Vascular Access Complication</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/375979" ref="tree=MeSH" title="MedGen record for Abnormality of coagulation">Abnormality of coagulation</a></span><ul><li><span class="TLline"><a href="/medgen/898209" ref="tree=MeSH" title="MedGen record for Abnormality of fibrinolysis">Abnormality of fibrinolysis</a></span><ul><li><span class="TLline"><a href="/medgen/1863790" ref="tree=MeSH" title="MedGen record for Abnormal circulating plasminogen activator inhibitor 1 activity">Abnormal circulating plasminogen activator inhibitor 1 activity</a></span></li><li><span class="TLline"><a href="/medgen/677042" ref="tree=MeSH" title="MedGen record for Elevated circulating D-dimer concentration">Elevated circulating D-dimer concentration</a></span></li><li><span class="TLline"><a href="/medgen/882781" ref="tree=MeSH" title="MedGen record for Hyperfibrinolysis">Hyperfibrinolysis</a></span></li><li><span class="TLline"><a href="/medgen/898698" ref="tree=MeSH" title="MedGen record for Prolonged euglobulin clot lysis time">Prolonged euglobulin clot lysis time</a></span></li><li><span class="TLline"><a href="/medgen/908297" ref="tree=MeSH" title="MedGen record for Reduced euglobulin clot lysis time">Reduced euglobulin clot lysis time</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/604" ref="tree=MeSH" title="MedGen record for Abnormality of the coagulation cascade">Abnormality of the coagulation cascade</a></span><ul><li><span class="TLline"><a href="/medgen/868606" ref="tree=MeSH" title="MedGen record for Abnormality of prothrombin">Abnormality of prothrombin</a></span></li><li><span class="TLline"><a href="/medgen/869187" ref="tree=MeSH" title="MedGen record for Abnormality of the common coagulation pathway">Abnormality of the common coagulation pathway</a></span></li><li><span class="TLline"><a href="/medgen/869189" ref="tree=MeSH" title="MedGen record for Abnormality of the extrinsic pathway">Abnormality of the extrinsic pathway</a></span></li><li><span class="TLline"><a href="/medgen/869188" ref="tree=MeSH" title="MedGen record for Abnormality of the intrinsic pathway">Abnormality of the intrinsic pathway</a></span></li><li><span class="TLline"><a href="/medgen/894472" ref="tree=MeSH" title="MedGen record for Abnormality of the protein C anticoagulant pathway">Abnormality of the protein C anticoagulant pathway</a></span></li><li><span class="TLline"><a href="/medgen/868623" ref="tree=MeSH" title="MedGen record for Abnormality of von Willebrand factor">Abnormality of von Willebrand factor</a></span></li><li><span class="TLline"><a href="/medgen/543936" ref="tree=MeSH" title="MedGen record for Blood coagulation disorder due to liver disease">Blood coagulation disorder due to liver disease</a></span></li><li><span class="TLline"><a href="/medgen/543969" ref="tree=MeSH" title="MedGen record for Coagulation factor deficiency syndrome">Coagulation factor deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/108723" ref="tree=MeSH" title="MedGen record for Coagulation protein disease">Coagulation protein disease</a></span></li><li><span class="TLline"><a href="/medgen/769746" ref="tree=MeSH" title="MedGen record for Congenital Bleeding Disorder">Congenital Bleeding Disorder</a></span></li><li><span class="TLline"><a href="/medgen/412870" ref="tree=MeSH" title="MedGen record for Congenital plasminogen activator inhibitor type 1 deficiency">Congenital plasminogen activator inhibitor type 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1747147" ref="tree=MeSH" title="MedGen record for COVID-19-Associated Coagulation Disorder">COVID-19-Associated Coagulation Disorder</a></span></li><li><span class="TLline"><a href="/medgen/226778" ref="tree=MeSH" title="MedGen record for Dysfibrinogenemia">Dysfibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/8524" ref="tree=MeSH" title="MedGen record for Ecchymosis">Ecchymosis</a></span></li><li><span class="TLline"><a href="/medgen/11797" ref="tree=MeSH" title="MedGen record for Essential thrombocythemia">Essential thrombocythemia</a></span></li><li><span class="TLline"><a href="/medgen/1774231" ref="tree=MeSH" title="MedGen record for Fibrinolysis Shutdown">Fibrinolysis Shutdown</a></span></li><li><span class="TLline"><a href="/medgen/42403" ref="tree=MeSH" title="MedGen record for Hemolytic-uremic syndrome">Hemolytic-uremic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75781" ref="tree=MeSH" title="MedGen record for Hereditary antithrombin deficiency">Hereditary antithrombin deficiency</a></span></li><li><span class="TLline"><a href="/medgen/75780" ref="tree=MeSH" title="MedGen record for High molecular weight kininogen deficiency">High molecular weight kininogen deficiency</a></span></li><li><span class="TLline"><a href="/medgen/488952" ref="tree=MeSH" title="MedGen record for Hyperfibrinogenemia">Hyperfibrinogenemia</a></span></li><li><span class="TLline"><a href="/medgen/1391199" ref="tree=MeSH" title="MedGen record for Immune-Mediated Coagulopathy">Immune-Mediated Coagulopathy</a></span></li><li><span class="TLline"><a href="/medgen/163105" ref="tree=MeSH" title="MedGen record for Inherited blood coagulation disorder">Inherited blood coagulation disorder</a></span></li><li><span class="TLline"><a href="/medgen/1387546" ref="tree=MeSH" title="MedGen record for Plasma Kallikrein Deficiency">Plasma Kallikrein Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/396078" ref="tree=MeSH" title="MedGen record for Platelet-type bleeding disorder 17">Platelet-type bleeding disorder 17</a></span></li><li><span class="TLline"><a href="/medgen/69229" ref="tree=MeSH" title="MedGen record for Protein S deficiency disease">Protein S deficiency disease</a></span></li><li><span class="TLline"><a href="/medgen/19584" ref="tree=MeSH" title="MedGen record for Purpura">Purpura</a></span></li><li><span class="TLline"><a href="/medgen/19351" ref="tree=MeSH" title="MedGen record for Storage pool disease of platelets">Storage pool disease of platelets</a></span></li><li><span class="TLline"><a href="/medgen/1785620" ref="tree=MeSH" title="MedGen record for Thromboinflammation">Thromboinflammation</a></span></li><li><span class="TLline"><a href="/medgen/98306" ref="tree=MeSH" title="MedGen record for Thrombophilia">Thrombophilia</a></span></li><li><span class="TLline"><a href="/medgen/403479" ref="tree=MeSH" title="MedGen record for Thrombotic microangiopathy">Thrombotic microangiopathy</a></span></li><li><span class="TLline"><a href="/medgen/1374188" ref="tree=MeSH" title="MedGen record for Tissue Kallikrein Deficiency">Tissue Kallikrein Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/22672" ref="tree=MeSH" title="MedGen record for Vitamin K deficiency">Vitamin K deficiency</a></span></li><li><span class="TLline"><a href="/medgen/22686" ref="tree=MeSH" title="MedGen record for von Willebrand disorder">von Willebrand disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66815" ref="tree=MeSH" title="MedGen record for Prolonged partial thromboplastin time">Prolonged partial thromboplastin time</a></span></li><li><span class="TLline"><a href="/medgen/1687820" ref="tree=MeSH" title="MedGen record for Prolonged reptilase time">Prolonged reptilase time</a></span></li><li><span class="TLline"><a href="/medgen/488780" ref="tree=MeSH" title="MedGen record for Prolonged whole-blood clotting time">Prolonged whole-blood clotting time</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57492" ref="tree=MeSH" title="MedGen record for Abnormality of thrombocytes">Abnormality of thrombocytes</a></span><ul><li><span class="TLline"><a href="/medgen/488944" ref="tree=MeSH" title="MedGen record for Abnormal platelet function">Abnormal platelet function</a></span><ul><li><span class="TLline"><a href="/medgen/154224" ref="tree=MeSH" title="MedGen record for Abnormal platelet aggregation">Abnormal platelet aggregation</a></span></li><li><span class="TLline"><a href="/medgen/892815" ref="tree=MeSH" title="MedGen record for Abnormal platelet granule secretion">Abnormal platelet granule secretion</a></span></li><li><span class="TLline"><a href="/medgen/868746" ref="tree=MeSH" title="MedGen record for Abnormal platelet membrane protein expression">Abnormal platelet membrane protein expression</a></span></li><li><span class="TLline"><a href="/medgen/1386143" ref="tree=MeSH" title="MedGen record for Abnormal platelet phosphatidylserine exposure">Abnormal platelet phosphatidylserine exposure</a></span></li><li><span class="TLline"><a href="/medgen/1376447" ref="tree=MeSH" title="MedGen record for Impaired clot retraction">Impaired clot retraction</a></span></li><li><span class="TLline"><a href="/medgen/870256" ref="tree=MeSH" title="MedGen record for Impaired platelet adhesion">Impaired platelet adhesion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488945" ref="tree=MeSH" title="MedGen record for Abnormal platelet morphology">Abnormal platelet morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868487" ref="tree=MeSH" title="MedGen record for Abnormal dense tubular system">Abnormal dense tubular system</a></span></li><li><span class="TLline"><a href="/medgen/488925" ref="tree=MeSH" title="MedGen record for Abnormal platelet count">Abnormal platelet count</a></span></li><li><span class="TLline"><a href="/medgen/868741" ref="tree=MeSH" title="MedGen record for Abnormal platelet granules">Abnormal platelet granules</a></span></li><li><span class="TLline"><a href="/medgen/868472" ref="tree=MeSH" title="MedGen record for Abnormal platelet shape">Abnormal platelet shape</a></span></li><li><span class="TLline"><a href="/medgen/868747" ref="tree=MeSH" title="MedGen record for Abnormal platelet volume">Abnormal platelet volume</a></span></li><li><span class="TLline"><a href="/medgen/867463" ref="tree=MeSH" title="MedGen record for Abnormal surface-connected open canalicular system">Abnormal surface-connected open canalicular system</a></span></li><li><span class="TLline"><a href="/medgen/810926" ref="tree=MeSH" title="MedGen record for Platelet anisocytosis">Platelet anisocytosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137700" ref="tree=MeSH" title="MedGen record for Giant platelets">Giant platelets</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/392862" ref="tree=MeSH" title="MedGen record for Extramedullary hematopoiesis">Extramedullary hematopoiesis</a></span><ul><li><span class="TLline"><a href="/medgen/474857" ref="tree=MeSH" title="MedGen record for Adult Extramedullary Hematopoiesis">Adult Extramedullary Hematopoiesis</a></span></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>
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<div class="divPopper rprt" id="rdis_9646"><div><strong>Angioosteohypertrophic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9646</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.">C0022739</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.\n\nMost people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.\n\nKlippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.\n\nMalformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).\n\nOther complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9646">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82780"><div><strong>Triglyceride storage disease with ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82780</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.">C0268238</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with a nonbullous erythrodermic form of ichthyosis (NCIE; see 242300) with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al., 2001).&#13; Another form of neutral lipid storage disease without ichthyosis but with myopathy (NLSDM; 610717) is caused by mutation in the PNPLA2 gene (609059).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82780">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_83352"><div><strong>Thiopurine S-methyltransferase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83352</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.">C0342801</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine. They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/83352">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_96015"><div><strong>Myeloperoxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96015</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.">C0398595</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96015">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_148193"><div><strong>Warfarin response</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148193</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.">C0750384</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Warfarin is an oral anti-coagulant used world-wide to treat and prevent thrombotic disorders. While it is highly effective, it has a very narrow therapeutic index making it difficult to dose correctly. Genetic variants in cytochrome P450-2C9 (CYP2C9), vitamin K-epoxide reductase complex (VKORC1), cytochrome P450-CYP4F2 (CYP4F2) and the CYP2C cluster (eg. rs12777823), along with non-genetic factors, are known to affect warfarin dose variability. Patients with specific variants in the gene CYP2C9 (the primary warfarin-metabolizing enzyme) may require a lower dose of warfarin as compared to patients without these variants. Patients with specific variants in VKORC1 (the target enzyme of warfarin) may require a lower warfarin dose as compared to patients who do not have these variants. The combination of CYP2C9/VKORC1/CYP4F2/CYP2C genetic variants, along with clinical factors, can put some patients at risk for therapeutic failure or adverse events such as bleeding. Guidelines regarding the use of pharmacogenomic tests in dosing for warfarin have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/148193">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_320594"><div><strong>Leukocyte nuclear appendages, hereditary prevalence of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320594</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.">C1835405</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/320594">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333150"><div><strong>Macrocytosis, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333150</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.">C1838656</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/333150">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_330754"><div><strong>Giant neutrophil leukocytes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330754</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.">C1842039</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/330754">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_336101"><div><strong>Hemopoietic proliferation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336101</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.">C1844026</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336101">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343610"><div><strong>Eosinophilopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343610</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.">C1851586</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally low level of eosinophils in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343610">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343814"><div><strong>Cryoglobulinemic vasculitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343814</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.">C1852456</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343814">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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.">C1857663</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347128"><div><strong>Predisposition to invasive fungal disease due to CARD9 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347128</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.">C1859353</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347128">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_395437"><div><strong>ACETOPHENETIDIN SENSITIVITY</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395437</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.">C1860214</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/395437">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_350024"><div><strong>Sulfhemoglobinemia, congenital</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350024</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.">C1861437</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/350024">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356468"><div><strong>Premature aging syndrome, Okamoto type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356468</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.">C1866183</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/356468">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1676827"><div><strong>Intellectual disability-hypotonic facies syndrome, X-linked, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1676827</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.">C4759781</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1676827">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ACETOPHENETIDIN SENSITIVITY</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Angioosteohypertrophic syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryoglobulinemic vasculitis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilopenia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330754" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giant neutrophil leukocytes</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemopoietic proliferation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1676827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-hypotonic facies syndrome, X-linked, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukocyte nuclear appendages, hereditary prevalence of</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocytosis, familial</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myeloperoxidase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Predisposition to invasive fungal disease due to CARD9 deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature aging syndrome, Okamoto type</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350024" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sulfhemoglobinemia, congenital</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thiopurine S-methyltransferase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Triglyceride storage disease with ichthyosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_148193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warfarin response</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon syndrome</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/29292496">Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giambona A,
Leto F,
Passarello C,
Vinciguerra M,
Cigna V,
Schillaci G,
Picciotto F,
Lauricella S,
Nicolaides KH,
Makrydimas G,
Damiani G,
Maggio A</span><br />
<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
2018 Mar;97(3):312-321.
Epub 2018 Jan 24
doi: 10.1111/aogs.13287.
<span class="bold">PMID: </span><a href="/pubmed/29292496" target="_blank">29292496</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20blood%20and%20blood-forming%20tissues)%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 (1)</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/35333433">Early prenatal diagnosis of Hb Lepore Boston-Washington and β-thalassemia on fetal celomatic DNA.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giambona A,
Leto F,
Cassarà F,
Tartaglia V,
Marchese G,
Orlandi E,
Cigna V,
Picciotto F,
Maggio A,
Vinciguerra M</span><br />
<span class="medgenPMjournal">Int J Lab Hematol</span>
2022 Aug;44(4):796-802.
Epub 2022 Mar 25
doi: 10.1111/ijlh.13837.
<span class="bold">PMID: </span><a href="/pubmed/35333433" target="_blank">35333433</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22341970">Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jongmans MC,
Verwiel ET,
Heijdra Y,
Vulliamy T,
Kamping EJ,
Hehir-Kwa JY,
Bongers EM,
Pfundt R,
van Emst L,
van Leeuwen FN,
van Gassen KL,
Geurts van Kessel A,
Dokal I,
Hoogerbrugge N,
Ligtenberg MJ,
Kuiper RP</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2012 Mar 9;90(3):426-33.
Epub 2012 Feb 16
doi: 10.1016/j.ajhg.2012.01.004.
<span class="bold">PMID: </span><a href="/pubmed/22341970" target="_blank">22341970</a><a href="/pmc/articles/PMC3309184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2012691">Dermatoglyphics and acute lymphocytic leukemia in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Edelstein J,
Amylon M,
Walsh JA</span><br />
<span class="medgenPMjournal">J Pediatr Oncol Nurs</span>
1991 Jan;8(1):30-8.
doi: 10.1177/104345429100800106.
<span class="bold">PMID: </span><a href="/pubmed/2012691" target="_blank">2012691</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20blood%20and%20blood-forming%20tissues%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39294306">Leukemia detection and classification using computer-aided diagnosis system with falcon optimization algorithm and deep learning.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Asar TO,
Ragab M</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2024 Sep 18;14(1):21755.
doi: 10.1038/s41598-024-72900-3.
<span class="bold">PMID: </span><a href="/pubmed/39294306" target="_blank">39294306</a><a href="/pmc/articles/PMC11410793" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35333433">Early prenatal diagnosis of Hb Lepore Boston-Washington and β-thalassemia on fetal celomatic DNA.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giambona A,
Leto F,
Cassarà F,
Tartaglia V,
Marchese G,
Orlandi E,
Cigna V,
Picciotto F,
Maggio A,
Vinciguerra M</span><br />
<span class="medgenPMjournal">Int J Lab Hematol</span>
2022 Aug;44(4):796-802.
Epub 2022 Mar 25
doi: 10.1111/ijlh.13837.
<span class="bold">PMID: </span><a href="/pubmed/35333433" target="_blank">35333433</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29292496">Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Giambona A,
Leto F,
Passarello C,
Vinciguerra M,
Cigna V,
Schillaci G,
Picciotto F,
Lauricella S,
Nicolaides KH,
Makrydimas G,
Damiani G,
Maggio A</span><br />
<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
2018 Mar;97(3):312-321.
Epub 2018 Jan 24
doi: 10.1111/aogs.13287.
<span class="bold">PMID: </span><a href="/pubmed/29292496" target="_blank">29292496</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22341970">Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jongmans MC,
Verwiel ET,
Heijdra Y,
Vulliamy T,
Kamping EJ,
Hehir-Kwa JY,
Bongers EM,
Pfundt R,
van Emst L,
van Leeuwen FN,
van Gassen KL,
Geurts van Kessel A,
Dokal I,
Hoogerbrugge N,
Ligtenberg MJ,
Kuiper RP</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2012 Mar 9;90(3):426-33.
Epub 2012 Feb 16
doi: 10.1016/j.ajhg.2012.01.004.
<span class="bold">PMID: </span><a href="/pubmed/22341970" target="_blank">22341970</a><a href="/pmc/articles/PMC3309184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20blood%20and%20blood-forming%20tissues%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 (4)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/11744501">Community health profile of Windsor, Ontario, Canada: anatomy of a Great Lakes area of concern.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gilbertson M,
Brophy J</span><br />
<span class="medgenPMjournal">Environ Health Perspect</span>
2001 Dec;109 Suppl 6(Suppl 6):827-43.
doi: 10.1289/ehp.01109s6827.
<span class="bold">PMID: </span><a href="/pubmed/11744501" target="_blank">11744501</a><a href="/pmc/articles/PMC1240618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8076216">The molecular control of hemopoiesis and leukemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sachs L</span><br />
<span class="medgenPMjournal">C R Acad Sci III</span>
1993 Sep;316(9):871-91.
<span class="bold">PMID: </span><a href="/pubmed/8076216" target="_blank">8076216</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1645028">The molecular control of hematopoiesis: from clonal development in culture to therapy in the clinic.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sachs L</span><br />
<span class="medgenPMjournal">Int J Cell Cloning</span>
1992 Jul;10(4):196-204.
doi: 10.1002/stem.5530100402.
<span class="bold">PMID: </span><a href="/pubmed/1645028" target="_blank">1645028</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2180649">The proteins that control haemopoiesis and leukaemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sachs L</span><br />
<span class="medgenPMjournal">Ciba Found Symp</span>
1990;148:5-19; discussion 19-24.
<span class="bold">PMID: </span><a href="/pubmed/2180649" target="_blank">2180649</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3317831">The molecular control of blood cell development.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sachs L</span><br />
<span class="medgenPMjournal">Science</span>
1987 Dec 4;238(4832):1374-9.
doi: 10.1126/science.3317831.
<span class="bold">PMID: </span><a href="/pubmed/3317831" target="_blank">3317831</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20blood%20and%20blood-forming%20tissues%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/11744501">Community health profile of Windsor, Ontario, Canada: anatomy of a Great Lakes area of concern.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gilbertson M,
Brophy J</span><br />
<span class="medgenPMjournal">Environ Health Perspect</span>
2001 Dec;109 Suppl 6(Suppl 6):827-43.
doi: 10.1289/ehp.01109s6827.
<span class="bold">PMID: </span><a href="/pubmed/11744501" target="_blank">11744501</a><a href="/pmc/articles/PMC1240618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2012691">Dermatoglyphics and acute lymphocytic leukemia in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Edelstein J,
Amylon M,
Walsh JA</span><br />
<span class="medgenPMjournal">J Pediatr Oncol Nurs</span>
1991 Jan;8(1):30-8.
doi: 10.1177/104345429100800106.
<span class="bold">PMID: </span><a href="/pubmed/2012691" target="_blank">2012691</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20blood%20and%20blood-forming%20tissues%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/22341970">Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jongmans MC,
Verwiel ET,
Heijdra Y,
Vulliamy T,
Kamping EJ,
Hehir-Kwa JY,
Bongers EM,
Pfundt R,
van Emst L,
van Leeuwen FN,
van Gassen KL,
Geurts van Kessel A,
Dokal I,
Hoogerbrugge N,
Ligtenberg MJ,
Kuiper RP</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2012 Mar 9;90(3):426-33.
Epub 2012 Feb 16
doi: 10.1016/j.ajhg.2012.01.004.
<span class="bold">PMID: </span><a href="/pubmed/22341970" target="_blank">22341970</a><a href="/pmc/articles/PMC3309184" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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