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<meta name="keywords" content="C4551637, autosomal dominant benign erythrocytosis, benign familial polycythemia, congenital erythrocytosis, congenital erythrocytosis due to erythropoietin receptor mutation, congenital polycythemia due to erythropoietin receptor mutation, disease or syndrome, ecyt1, ecyt1 familial erythrocytosis-1, epor, epor familial polycythemia, erythrocytosis autosomal dominant benign, erythrocytosis familial, 1, erythrocytosis, autosomal dominant benign, erythrocytosis, familial, 1, erythrocytosis, familial, type 1, erythrocytosis, somatic, familial erythrocytosis, familial erythrocytosis 1, familial erythrocytosis type 1, familial erythrocytosis, 1, familial polycythemia, familial polycythemia caused by mutation in epor, hereditary erythrocytosis, jak2, pfcp, polycythemia, primary familial and congenital, primary congenital erythrocytosis, primary familial and congenital polycythemia, primary familial congenital polycythemia, primary familial polycythemia, primary familial polycythemia due to epo receptor mutation, sh2b3, 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="Primary familial and congenital erythrocytosis (PFCE), originally described as primary familial and congenital polycythemia, is characterized by isolated erythrocytosis in an individual with a normal to slightly enlarged spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and include rubor, and may or may not include hyperviscosity syndrome (headache, dizziness, altered mentation, visual disturbances, tinnitus, paresthesia, fatigue, lassitude, and weakness) and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCE have absence of or only mild manifestations of hyperviscosity syndrome such as headache or dizziness, some affected individuals have severe and even fatal complications including arterial hypertension, coronary artery disease, myocardial infarction, intracerebral hemorrhage, and deep vein thrombosis (DVT). Phlebotomy-induced iron deficiency results in lassitude, impaired intellect, and impaired athletic performance, especially in children. Iron deficiency may also increase the risk of thromboses. Leukocyte count and differential are normal and platelet count tends to be low normal or slightly low due to hemodilution from increased red blood cells and increased whole blood volume." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1641215
|
||
ConceptID=C4551637
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Primary familial polycythemia due to EPO receptor mutation<span class="h1sub">(PFCP; ECYT1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641215</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4551637</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Erythrocytosis autosomal dominant benign; ERYTHROCYTOSIS, SOMATIC; POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; Primary Familial Congenital Polycythemia</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="EPOR - ID: 2057 - NCBI Gene" href="/gene/2057" class="medgenPMinfo">EPOR</a> (19p13.2); <a target="_blank" title="JAK2 - ID: 3717 - NCBI Gene" href="/gene/3717" class="medgenPMinfo">JAK2</a> (9p24.1); <a target="_blank" title="SH2B3 - ID: 10019 - NCBI Gene" href="/gene/10019" class="medgenPMinfo">SH2B3</a> (12q24.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007572" target="_blank">MONDO:0007572</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/133100" target="_blank">133100</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90042">ORPHA90042</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK395975" target="_blank">Primary Familial and Congenital Erythrocytosis</a></div><div>Primary familial and congenital erythrocytosis (PFCE), originally described as primary familial and congenital polycythemia, is characterized by isolated erythrocytosis in an individual with a normal to slightly enlarged spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and include rubor, and may or may not include hyperviscosity syndrome (headache, dizziness, altered mentation, visual disturbances, tinnitus, paresthesia, fatigue, lassitude, and weakness) and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCE have absence of or only mild manifestations of hyperviscosity syndrome such as headache or dizziness, some affected individuals have severe and even fatal complications including arterial hypertension, coronary artery disease, myocardial infarction, intracerebral hemorrhage, and deep vein thrombosis (DVT). Phlebotomy-induced iron deficiency results in lassitude, impaired intellect, and impaired athletic performance, especially in children. Iron deficiency may also increase the risk of thromboses. Leukocyte count and differential are normal and platelet count tends to be low normal or slightly low due to hemodilution from increased red blood cells and increased whole blood volume. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK395975#pfcp.Summary" target="NBK395975">Summary</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Diagnosis" target="NBK395975">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Clinical_Characteristics" target="NBK395975">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Genetically_Related_Allelic_Disorde" target="NBK395975">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Differential_Diagnosis" target="NBK395975">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Management" target="NBK395975">Management</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Genetic_Counseling" target="NBK395975">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Resources" target="NBK395975">Resources</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Molecular_Genetics" target="NBK395975">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.Chapter_Notes" target="NBK395975">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK395975#pfcp.References" target="NBK395975">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Josef Prchal <a href="/books/NBK395975" target="NBK395975" title="NCBI Bookshelf: Primary Familial and Congenital Erythrocytosis">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Familial erythrocytosis-1 (ECYT1) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO (133170), and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998).
|
||
Genetic Heterogeneity of Familial Erythrocytosis
|
||
See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p21; ECYT5 (617907), caused by mutation in the EPO gene (133170) on chromosome 7q22; ECYT6 (617980), caused by mutation in the HBB gene (141900) on chromosome 11q15; ECYT7 (617981), caused by mutation in the HBA genes (141800; 141850) on chromosome 16p13; and ECYT8 (222800), caused by mutation in the BPGM gene (613896) on chromosome 7q33.
|
||
Stamatoyannopoulos (1972) reviewed causes of familial erythrocytosis and noted that the disorder may result from defects in the regulation of 2,3-diphosphoglycerate (see 613896 and 222800).
|
||
Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively.
|
||
For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014). <a target="_blank" href="http://www.omim.org/entry/133100">http://www.omim.org/entry/133100</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_41971"><div><strong>Fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41971</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subjective feeling of tiredness characterized by a lack of energy and motivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41971">Feature record</a> | <a href="/medgen?term=%22Fatigue%22%5BClinical%20Features%5D%20OR%2041971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10150"><div><strong>Myocardial infarction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10150</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10150">Feature record</a> | <a href="/medgen?term=%22Myocardial%20infarction%22%5BClinical%20Features%5D%20OR%2010150%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_423648"><div><strong>Cerebral hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423648</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2937358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hemorrhage into the parenchyma of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/423648">Feature record</a> | <a href="/medgen?term=%22Cerebral%20hemorrhage%22%5BClinical%20Features%5D%20OR%20423648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_53006"><div><strong>Vertigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>53006</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042571</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal sensation of spinning while the body is actually stationary.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/53006">Feature record</a> | <a href="/medgen?term=%22Vertigo%22%5BClinical%20Features%5D%20OR%2053006%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68692"><div><strong>Increased hematocrit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68692</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0239935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68692">Feature record</a> | <a href="/medgen?term=%22Increased%20hematocrit%22%5BClinical%20Features%5D%20OR%2068692%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108199"><div><strong>Increased circulating hemoglobin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108199</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0549448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of hemoglobin in the blood circulation above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108199">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20hemoglobin%20concentration%22%5BClinical%20Features%5D%20OR%20108199%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337901"><div><strong>Peripheral thrombosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337901</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849749</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337901">Feature record</a> | <a href="/medgen?term=%22Peripheral%20thrombosis%22%5BClinical%20Features%5D%20OR%20337901%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377869"><div><strong>Increased red blood cell mass</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377869</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an increased mass of red blood cells in the circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377869">Feature record</a> | <a href="/medgen?term=%22Increased%20red%20blood%20cell%20mass%22%5BClinical%20Features%5D%20OR%20377869%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68549"><div><strong>Exertional dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68549</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0231807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68549">Feature record</a> | <a href="/medgen?term=%22Exertional%20dyspnea%22%5BClinical%20Features%5D%20OR%2068549%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115911"><div><strong>Plethora</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115911</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0232370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115911">Feature record</a> | <a href="/medgen?term=%22Plethora%22%5BClinical%20Features%5D%20OR%20115911%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating hemoglobin concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased hematocrit</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased red blood cell mass</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral thrombosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_423648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral hemorrhage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myocardial infarction</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plethora</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exertional dyspnea</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigue</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_53006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertigo</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152264[DISCUI]&test_type=Clinical" ref="ncbi_uid=57520">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&from_uid=57520" ref="ncbi_uid=57520">V</a></span></span><span class="TLline"><a href="/medgen/57520" ref="tree=GTR&ncbi_uid=57520&link_uid=57520" title="View MedGen record for 'Familial erythrocytosis'">Familial erythrocytosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837915[DISCUI]&test_type=Clinical" ref="ncbi_uid=332974">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332974" target="_blank" href="/omim/263400">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332974" ref="ncbi_uid=332974">V</a></span></span><span class="TLline"><a href="/medgen/332974" ref="tree=GTR&ncbi_uid=332974&link_uid=332974" title="View MedGen record for 'Chuvash polycythemia'">Chuvash polycythemia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853286[DISCUI]&test_type=Clinical" ref="ncbi_uid=377868">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377868" target="_blank" href="/omim/606425">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=377868" ref="ncbi_uid=377868">V</a></span></span><span class="TLline"><a href="/medgen/377868" ref="tree=GTR&ncbi_uid=377868&link_uid=377868" title="View MedGen record for 'Erythrocytosis, familial, 3'">Erythrocytosis, familial, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673187[DISCUI]&test_type=Clinical" ref="ncbi_uid=435867">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=435867" target="_blank" href="/omim/603349">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=435867" ref="ncbi_uid=435867">V</a></span></span><span class="TLline"><a href="/medgen/435867" ref="tree=GTR&ncbi_uid=435867&link_uid=435867" title="View MedGen record for 'Erythrocytosis, familial, 4'">Erythrocytosis, familial, 4</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551637[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641215">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641215" target="_blank" href="/omim/133100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK395975/" ref="ncbi_uid=1641215">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641215" ref="ncbi_uid=1641215">V</a></span></span><span class="TLline">Primary familial polycythemia due to EPO receptor mutation</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><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/18552" ref="tree=MeSH" title="MedGen record for Polycythemia">Polycythemia</a></span><ul><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><ul><li><span class="TLline"><a href="/medgen/57520" ref="tree=MeSH" title="MedGen record for Familial erythrocytosis">Familial erythrocytosis</a></span><ul><li><span class="matched_ds">Primary familial polycythemia due to EPO receptor mutation</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36966432">JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gangat N,
|
||
Szuber N,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Jun;98(6):965-981.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1002/ajh.26920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36966432" target="_blank">36966432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15599750">Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cario H</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2005 Mar;84(3):137-45.
|
||
Epub 2004 Dec 15
|
||
doi: 10.1007/s00277-004-0985-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15599750" target="_blank">15599750</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(primary%20familial%20polycythemia%20due%20to%20epo%20receptor%20mutation)%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 (2)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22274579">Clinical utility gene card for: familial erythrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hussein K,
|
||
Percy M,
|
||
McMullin MF</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 May;20(5)
|
||
Epub 2012 Jan 25
|
||
doi: 10.1038/ejhg.2011.252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22274579" target="_blank">22274579</a><a href="/pmc/articles/PMC3330227" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/36966432">JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gangat N,
|
||
Szuber N,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Jun;98(6):965-981.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1002/ajh.26920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36966432" target="_blank">36966432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16210040">Lessons from familial myeloproliferative disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skoda R,
|
||
Prchal JT</span><br />
|
||
<span class="medgenPMjournal">Semin Hematol</span>
|
||
2005 Oct;42(4):266-73.
|
||
doi: 10.1053/j.seminhematol.2005.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16210040" target="_blank">16210040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15642677">Congenital polycythemias/erythrocytoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordeuk VR,
|
||
Stockton DW,
|
||
Prchal JT</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2005 Jan;90(1):109-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15642677" target="_blank">15642677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9883806">Erythropoietin receptor and hematological disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McMullin MF,
|
||
Percy MJ</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
1999 Jan;60(1):55-60.
|
||
doi: 10.1002/(sici)1096-8652(199901)60:1<55::aid-ajh9>3.0.co;2-v.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9883806" target="_blank">9883806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8982288">"Benign erythrocytosis" and other familial and congenital polycythemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prchal JT,
|
||
Sokol L</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
1996 Oct;57(4):263-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8982288" target="_blank">8982288</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20familial%20polycythemia%20due%20to%20EPO%20receptor%20mutation%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36966432">JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gangat N,
|
||
Szuber N,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Jun;98(6):965-981.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1002/ajh.26920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36966432" target="_blank">36966432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33840141">Congenital erythrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallik N,
|
||
Das R,
|
||
Malhotra P,
|
||
Sharma P</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
2021 Jul;107(1):29-37.
|
||
Epub 2021 Apr 23
|
||
doi: 10.1111/ejh.13632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33840141" target="_blank">33840141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25189721">Hereditary erythrocytosis, thrombocytosis and neutrophilia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong WJ,
|
||
Gotlib J</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Haematol</span>
|
||
2014 Jun;27(2):95-106.
|
||
Epub 2014 Jul 18
|
||
doi: 10.1016/j.beha.2014.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25189721" target="_blank">25189721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20096014">Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang LJ,
|
||
Shen YM,
|
||
Bulut GB</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2010 Mar;148(6):844-52.
|
||
Epub 2010 Jan 20
|
||
doi: 10.1111/j.1365-2141.2009.08069.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20096014" target="_blank">20096014</a><a href="/pmc/articles/PMC2864346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8982288">"Benign erythrocytosis" and other familial and congenital polycythemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prchal JT,
|
||
Sokol L</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
1996 Oct;57(4):263-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8982288" target="_blank">8982288</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20familial%20polycythemia%20due%20to%20EPO%20receptor%20mutation%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 (16)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36966432">JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gangat N,
|
||
Szuber N,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2023 Jun;98(6):965-981.
|
||
Epub 2023 Apr 3
|
||
doi: 10.1002/ajh.26920.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36966432" target="_blank">36966432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15175960">Congenital erythrocytosis and polycythemia vera in childhood and adolescence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cario H,
|
||
Schwarz K,
|
||
Debatin KM,
|
||
Kohne E</span><br />
|
||
<span class="medgenPMjournal">Klin Padiatr</span>
|
||
2004 May-Jun;216(3):157-62.
|
||
doi: 10.1055/s-2004-822628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15175960" target="_blank">15175960</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20familial%20polycythemia%20due%20to%20EPO%20receptor%20mutation%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12430942">Basic sciences of the myeloproliferative diseases: pathogenic mechanisms of ET and PV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gale RE</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2002 Aug;76 Suppl 2:305-10.
|
||
doi: 10.1007/BF03165139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12430942" target="_blank">12430942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10579919">Signal transduction in the erythropoietin receptor system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wojchowski DM,
|
||
Gregory RC,
|
||
Miller CP,
|
||
Pandit AK,
|
||
Pircher TJ</span><br />
|
||
<span class="medgenPMjournal">Exp Cell Res</span>
|
||
1999 Nov 25;253(1):143-56.
|
||
doi: 10.1006/excr.1999.4673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10579919" target="_blank">10579919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8982288">"Benign erythrocytosis" and other familial and congenital polycythemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prchal JT,
|
||
Sokol L</span><br />
|
||
<span class="medgenPMjournal">Eur J Haematol</span>
|
||
1996 Oct;57(4):263-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8982288" target="_blank">8982288</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7795221">Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sokol L,
|
||
Luhovy M,
|
||
Guan Y,
|
||
Prchal JF,
|
||
Semenza GL,
|
||
Prchal JT</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1995 Jul 1;86(1):15-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7795221" target="_blank">7795221</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20familial%20polycythemia%20due%20to%20EPO%20receptor%20mutation%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35395428">Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Echambadi Loganathan S,
|
||
Kattaru S,
|
||
Chandrasekhar C,
|
||
Vengamma B,
|
||
Sarma PVGK</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2022 Jun;65(6):104493.
|
||
Epub 2022 Apr 5
|
||
doi: 10.1016/j.ejmg.2022.104493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35395428" target="_blank">35395428</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26706855">Delayed hemoglobin switching and perinatal neocytolysis in mice with gain-of-function erythropoietin receptor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Divoky V,
|
||
Song J,
|
||
Horvathova M,
|
||
Kralova B,
|
||
Votavova H,
|
||
Prchal JT,
|
||
Yoon D</span><br />
|
||
<span class="medgenPMjournal">J Mol Med (Berl)</span>
|
||
2016 May;94(5):597-608.
|
||
Epub 2015 Dec 26
|
||
doi: 10.1007/s00109-015-1375-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26706855" target="_blank">26706855</a><a href="/pmc/articles/PMC5083035" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12430942">Basic sciences of the myeloproliferative diseases: pathogenic mechanisms of ET and PV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gale RE</span><br />
|
||
<span class="medgenPMjournal">Int J Hematol</span>
|
||
2002 Aug;76 Suppl 2:305-10.
|
||
doi: 10.1007/BF03165139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12430942" target="_blank">12430942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11559951">Genetic heterogeneity of primary familial and congenital polycythemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kralovics R,
|
||
Prchal JT</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2001 Oct;68(2):115-21.
|
||
doi: 10.1002/ajh.1162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11559951" target="_blank">11559951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10579919">Signal transduction in the erythropoietin receptor system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wojchowski DM,
|
||
Gregory RC,
|
||
Miller CP,
|
||
Pandit AK,
|
||
Pircher TJ</span><br />
|
||
<span class="medgenPMjournal">Exp Cell Res</span>
|
||
1999 Nov 25;253(1):143-56.
|
||
doi: 10.1006/excr.1999.4673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10579919" target="_blank">10579919</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20familial%20polycythemia%20due%20to%20EPO%20receptor%20mutation%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 (10)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551637%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551637%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551637%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551637%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551637%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551637%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(primary%20familial%20polycythemia%20due%20to%20epo%20receptor%20mutation)%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></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//22274579/">EuroGenetest, 2012</a><div>Clinical utility gene card for: familial erythrocytosis.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=133171%20147796%20605093" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2057[geneid]" target="_blank">View EPOR variations in ClinVar</a></li><li><a href="/clinvar/?term=3717[geneid]" target="_blank">View JAK2 variations in ClinVar</a></li><li><a href="/clinvar/?term=10019[geneid]" target="_blank">View SH2B3 variations in ClinVar</a></li><li><a href="/nuccore/224451097,296040433,297307113" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=133100" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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