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<meta name="keywords" content="C1861455, disease or syndrome, ohs, ohst, overhydrated hereditary stomatocytosis, potassium sodium disorder of erythrocyte, potassium-sodium disorder of erythrocyte, rhag, stomatocytosis 1, stomatocytosis i, 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="Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=348876
|
||
ConceptID=C1861455
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Overhydrated hereditary stomatocytosis<span class="h1sub">(OHST)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348876</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:">C1861455</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>Potassium sodium disorder of erythrocyte; Stomatocytosis I</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Overhydrated hereditary stomatocytosis (722125003)</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">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="RHAG - ID: 6005 - NCBI Gene" href="/gene/6005" class="medgenPMinfo">RHAG</a> (6p12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008493" target="_blank">MONDO:0008493</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/185000" target="_blank">185000</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=3203">ORPHA3203</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">Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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>
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||
<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_11027"><div><strong>Pulmonary embolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11027</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.">C0034065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11027">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20embolism%22%5BClinical%20Features%5D%20OR%2011027%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</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.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347108"><div><strong>Prolonged neonatal jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347108</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.">C1859236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347108">Feature record</a> | <a href="/medgen?term=%22Prolonged%20neonatal%20jaundice%22%5BClinical%20Features%5D%20OR%20347108%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</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.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_60089"><div><strong>Reticulocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60089</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.">C0206160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/60089">Feature record</a> | <a href="/medgen?term=%22Reticulocytosis%22%5BClinical%20Features%5D%20OR%2060089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_81303"><div><strong>Increased mean corpuscular volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>81303</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.">C0302845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Larger than normal size of erythrocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/81303">Feature record</a> | <a href="/medgen?term=%22Increased%20mean%20corpuscular%20volume%22%5BClinical%20Features%5D%20OR%2081303%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_760280"><div><strong>Stomatocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760280</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.">C0677598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Stomatocytosis%22%5BClinical%20Features%5D%20OR%20760280%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376594"><div><strong>Increased red cell osmotic fragility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376594</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.">C1849478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376594">Feature record</a> | <a href="/medgen?term=%22Increased%20red%20cell%20osmotic%20fragility%22%5BClinical%20Features%5D%20OR%20376594%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_86321"><div><strong>Hyperbilirubinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86321</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.">C0311468</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased amount of bilirubin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86321">Feature record</a> | <a href="/medgen?term=%22Hyperbilirubinemia%22%5BClinical%20Features%5D%20OR%2086321%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871124"><div><strong>Increased intracellular sodium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871124</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.">C4025593</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased sodium concentration in the cytosol.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871124">Feature record</a> | <a href="/medgen?term=%22Increased%20intracellular%20sodium%22%5BClinical%20Features%5D%20OR%20871124%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased intracellular sodium</a></span></li></ul></li><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_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_81303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased mean corpuscular volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased red cell osmotic fragility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_60089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticulocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_760280" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stomatocytosis</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperbilirubinemia</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_11027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary embolism</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged neonatal jaundice</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">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></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><li><a href="#tabORDO">Orphanet</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=C1861455[DISCUI]&test_type=Clinical" ref="ncbi_uid=348876">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=348876" target="_blank" href="/omim/180297">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=348876" ref="ncbi_uid=348876">V</a></span></span><span class="TLline">Overhydrated hereditary stomatocytosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/490161" ref="tree=MeSH" title="MedGen record for Hereditary stomatocytosis">Hereditary stomatocytosis</a></span><ul><li><span class="matched_ds">Overhydrated hereditary stomatocytosis</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=3656&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Overhydrated hereditary stomatocytosis</span> in Orphanet.</div></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/31364155">Advances in understanding the pathogenesis of red cell membrane disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Oct;187(1):13-24.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1111/bjh.16126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31364155" target="_blank">31364155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23967154">SNPs altering ammonium transport activity of human Rhesus factors characterized by a yeast-based functional assay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deschuyteneer A,
|
||
Boeckstaens M,
|
||
De Mees C,
|
||
Van Vooren P,
|
||
Wintjens R,
|
||
Marini AM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(8):e71092.
|
||
Epub 2013 Aug 13
|
||
doi: 10.1371/journal.pone.0071092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23967154" target="_blank">23967154</a><a href="/pmc/articles/PMC3742762" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18931342">The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruce LJ,
|
||
Guizouarn H,
|
||
Burton NM,
|
||
Gabillat N,
|
||
Poole J,
|
||
Flatt JF,
|
||
Brady RL,
|
||
Borgese F,
|
||
Delaunay J,
|
||
Stewart GW</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2009 Feb 5;113(6):1350-7.
|
||
Epub 2008 Oct 17
|
||
doi: 10.1182/blood-2008-07-171140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18931342" target="_blank">18931342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14692233">Red blood cell membrane defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Perrotta S,
|
||
Stewart GW</span><br />
|
||
<span class="medgenPMjournal">Rev Clin Exp Hematol</span>
|
||
2003 Mar;7(1):22-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14692233" target="_blank">14692233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10088641">Hereditary dehydrated and overhydrated stomatocytosis: recent advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delaunay J,
|
||
Stewart G,
|
||
Iolascon A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
1999 Mar;6(2):110-4.
|
||
doi: 10.1097/00062752-199903000-00009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10088641" target="_blank">10088641</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overhydrated%20hereditary%20stomatocytosis%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38087905">Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Y,
|
||
Lin Q,
|
||
Ni W,
|
||
Deng K,
|
||
Li L</span><br />
|
||
<span class="medgenPMjournal">J Clin Lab Anal</span>
|
||
2023 Dec;37(23-24):e24991.
|
||
Epub 2023 Dec 13
|
||
doi: 10.1002/jcla.24991.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38087905" target="_blank">38087905</a><a href="/pmc/articles/PMC10756938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31364155">Advances in understanding the pathogenesis of red cell membrane disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Andolfo I,
|
||
Russo R</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2019 Oct;187(1):13-24.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1111/bjh.16126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31364155" target="_blank">31364155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22012326">Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genetet S,
|
||
Ripoche P,
|
||
Picot J,
|
||
Bigot S,
|
||
Delaunay J,
|
||
Armari-Alla C,
|
||
Colin Y,
|
||
Mouro-Chanteloup I</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Cell Physiol</span>
|
||
2012 Jan 15;302(2):C419-28.
|
||
Epub 2011 Oct 19
|
||
doi: 10.1152/ajpcell.00092.2011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22012326" target="_blank">22012326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14692233">Red blood cell membrane defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
Perrotta S,
|
||
Stewart GW</span><br />
|
||
<span class="medgenPMjournal">Rev Clin Exp Hematol</span>
|
||
2003 Mar;7(1):22-56.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14692233" target="_blank">14692233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10088641">Hereditary dehydrated and overhydrated stomatocytosis: recent advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delaunay J,
|
||
Stewart G,
|
||
Iolascon A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
1999 Mar;6(2):110-4.
|
||
doi: 10.1097/00062752-199903000-00009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10088641" target="_blank">10088641</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overhydrated%20hereditary%20stomatocytosis%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21859730">Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darghouth D,
|
||
Koehl B,
|
||
Heilier JF,
|
||
Madalinski G,
|
||
Bovee P,
|
||
Bosman G,
|
||
Delaunay J,
|
||
Junot C,
|
||
Roméo PH</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2011 Dec;96(12):1861-5.
|
||
Epub 2011 Aug 22
|
||
doi: 10.3324/haematol.2011.045179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21859730" target="_blank">21859730</a><a href="/pmc/articles/PMC3232270" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overhydrated%20hereditary%20stomatocytosis%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22012326">Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genetet S,
|
||
Ripoche P,
|
||
Picot J,
|
||
Bigot S,
|
||
Delaunay J,
|
||
Armari-Alla C,
|
||
Colin Y,
|
||
Mouro-Chanteloup I</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Cell Physiol</span>
|
||
2012 Jan 15;302(2):C419-28.
|
||
Epub 2011 Oct 19
|
||
doi: 10.1152/ajpcell.00092.2011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22012326" target="_blank">22012326</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overhydrated%20hereditary%20stomatocytosis%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22012326">Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Genetet S,
|
||
Ripoche P,
|
||
Picot J,
|
||
Bigot S,
|
||
Delaunay J,
|
||
Armari-Alla C,
|
||
Colin Y,
|
||
Mouro-Chanteloup I</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Cell Physiol</span>
|
||
2012 Jan 15;302(2):C419-28.
|
||
Epub 2011 Oct 19
|
||
doi: 10.1152/ajpcell.00092.2011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22012326" target="_blank">22012326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19644137">A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iolascon A,
|
||
De Falco L,
|
||
Borgese F,
|
||
Esposito MR,
|
||
Avvisati RA,
|
||
Izzo P,
|
||
Piscopo C,
|
||
Guizouarn H,
|
||
Biondani A,
|
||
Pantaleo A,
|
||
De Franceschi L</span><br />
|
||
<span class="medgenPMjournal">Haematologica</span>
|
||
2009 Aug;94(8):1049-59.
|
||
doi: 10.3324/haematol.2008.002873.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19644137" target="_blank">19644137</a><a href="/pmc/articles/PMC2719027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17961506">Membrane raft actin deficiency and altered Ca2+-induced vesiculation in stomatin-deficient overhydrated hereditary stomatocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilkinson DK,
|
||
Turner EJ,
|
||
Parkin ET,
|
||
Garner AE,
|
||
Harrison PJ,
|
||
Crawford M,
|
||
Stewart GW,
|
||
Hooper NM</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2008 Jan;1778(1):125-32.
|
||
Epub 2007 Sep 29
|
||
doi: 10.1016/j.bbamem.2007.09.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17961506" target="_blank">17961506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16197460">Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fricke B,
|
||
Parsons SF,
|
||
Knöpfle G,
|
||
von Düring M,
|
||
Stewart GW</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2005 Oct;131(2):265-77.
|
||
doi: 10.1111/j.1365-2141.2005.05742.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16197460" target="_blank">16197460</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Overhydrated%20hereditary%20stomatocytosis%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
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||
|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
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|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1861455%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1861455%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C1861455%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1861455%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=185000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3203" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Overhydrated%20hereditary%20stomatocytosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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