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<meta name="keywords" content="C1864651, atypical gaucher disease due to saposin c deficiency, atypical gaucher's disease due to saposin c deficiency, disease or syndrome, gaucher disease caused by mutation in psap, gaucher disease due to saposin c deficiency, gaucher disease, atypical, gaucher disease, atypical, due to saposin c deficiency, gdsapc, psap, psap gaucher disease, saposin c deficiency, 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="Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=350479
|
||
ConceptID=C1864651
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gaucher disease due to saposin C deficiency<span class="h1sub">(GDSAPC)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350479</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:">C1864651</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>Atypical Gaucher disease due to saposin C deficiency; Saposin C Deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Atypical Gaucher disease due to saposin C deficiency (1156792000)</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="PSAP - ID: 5660 - NCBI Gene" href="/gene/5660" class="medgenPMinfo">PSAP</a> (10q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012517" target="_blank">MONDO:0012517</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610539" target="_blank">610539</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=309252">ORPHA309252</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
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<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_57489"><div><strong>Bone pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57489</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.">C0151825</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57489">Feature record</a> | <a href="/medgen?term=%22Bone%20pain%22%5BClinical%20Features%5D%20OR%2057489%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_760077"><div><strong>Chronic fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>760077</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.">C0518656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/760077">Feature record</a> | <a href="/medgen?term=%22Chronic%20fatigue%22%5BClinical%20Features%5D%20OR%20760077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383796"><div><strong>Erlenmeyer flask deformity of the femurs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383796</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.">C1855895</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Flaring of distal femur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383796">Feature record</a> | <a href="/medgen?term=%22Erlenmeyer%20flask%20deformity%20of%20the%20femurs%22%5BClinical%20Features%5D%20OR%20383796%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_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</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.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66708"><div><strong>Clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66708</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.">C0234535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66708">Feature record</a> | <a href="/medgen?term=%22Clonic%20seizure%22%5BClinical%20Features%5D%20OR%2066708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_164077"><div><strong>Bilateral tonic-clonic seizure with focal onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164077</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.">C0877017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164077">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%20with%20focal%20onset%22%5BClinical%20Features%5D%20OR%20164077%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868772"><div><strong>Increased cerebral lipofuscin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868772</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.">C4023177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868772">Feature record</a> | <a href="/medgen?term=%22Increased%20cerebral%20lipofuscin%22%5BClinical%20Features%5D%20OR%20868772%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1645218"><div><strong>Abducens nerve palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645218</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.">C4551519</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645218">Feature record</a> | <a href="/medgen?term=%22Abducens%20nerve%20palsy%22%5BClinical%20Features%5D%20OR%201645218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642960"><div><strong>Intention tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642960</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.">C4551520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642960">Feature record</a> | <a href="/medgen?term=%22Intention%20tremor%22%5BClinical%20Features%5D%20OR%201642960%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</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.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9372"><div><strong>Hypersplenism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9372</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.">C0020532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malfunctioning of the spleen in which it prematurely destroys red blood cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9372">Feature record</a> | <a href="/medgen?term=%22Hypersplenism%22%5BClinical%20Features%5D%20OR%209372%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_57479"><div><strong>Hypocholesterolemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57479</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.">C0151718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased concentration of cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57479">Feature record</a> | <a href="/medgen?term=%22Hypocholesterolemia%22%5BClinical%20Features%5D%20OR%2057479%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124399"><div><strong>Horizontal nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124399</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.">C0271385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nystagmus consisting of horizontal to-and-fro eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124399">Feature record</a> | <a href="/medgen?term=%22Horizontal%20nystagmus%22%5BClinical%20Features%5D%20OR%20124399%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_314030"><div><strong>Supranuclear gaze palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314030</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.">C1720037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314030">Feature record</a> | <a href="/medgen?term=%22Supranuclear%20gaze%20palsy%22%5BClinical%20Features%5D%20OR%20314030%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326597"><div><strong>Elevated serum acid phosphatase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326597</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.">C1839866</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326597">Feature record</a> | <a href="/medgen?term=%22Elevated%20serum%20acid%20phosphatase%22%5BClinical%20Features%5D%20OR%20326597%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_326597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated serum acid phosphatase</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_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erlenmeyer flask deformity of the femurs</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_57479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypocholesterolemia</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></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horizontal nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_314030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear gaze palsy</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_9372" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypersplenism</a></span></li><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 musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</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_1645218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abducens nerve palsy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_164077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure with focal onset</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased cerebral lipofuscin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intention tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</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_57489" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone pain</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_760077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic 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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0017205[DISCUI]&test_type=Clinical" ref="ncbi_uid=42164">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=42164">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=42164" ref="ncbi_uid=42164">V</a></span></span><span class="TLline"><a href="/medgen/42164" ref="tree=GTR&ncbi_uid=42164&link_uid=42164" title="View MedGen record for 'Gaucher disease'">Gaucher disease</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864651[DISCUI]&test_type=Clinical" ref="ncbi_uid=350479">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350479" target="_blank" href="/omim/176801">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=350479" ref="ncbi_uid=350479">V</a></span></span><span class="TLline">Gaucher disease due to saposin C deficiency</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842704[DISCUI]&test_type=Clinical" ref="ncbi_uid=374996">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374996" target="_blank" href="/omim/606463">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=374996">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374996" ref="ncbi_uid=374996">V</a></span></span><span class="TLline"><a href="/medgen/374996" ref="tree=GTR&ncbi_uid=374996&link_uid=374996" title="View MedGen record for 'Gaucher disease perinatal lethal'">Gaucher disease perinatal lethal</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383926" target="_blank" href="/omim/231000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/383926" ref="tree=GTR&ncbi_uid=383926&link_uid=383926" title="View MedGen record for 'Gaucher disease type 3A'">Gaucher disease type 3A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344746" target="_blank" href="/omim/231000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/344746" ref="tree=GTR&ncbi_uid=344746&link_uid=344746" title="View MedGen record for 'Gaucher disease type 3B'">Gaucher disease type 3B</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=C1961835[DISCUI]&test_type=Clinical" ref="ncbi_uid=409531">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409531" target="_blank" href="/omim/230800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=409531">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409531" ref="ncbi_uid=409531">V</a></span></span><span class="TLline"><a href="/medgen/409531" ref="tree=GTR&ncbi_uid=409531&link_uid=409531" title="View MedGen record for 'Gaucher disease type I'">Gaucher disease type I</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=C0268250[DISCUI]&test_type=Clinical" ref="ncbi_uid=78652">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78652" target="_blank" href="/omim/230900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=78652">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78652" ref="ncbi_uid=78652">V</a></span></span><span class="TLline"><a href="/medgen/78652" ref="tree=GTR&ncbi_uid=78652&link_uid=78652" title="View MedGen record for 'Gaucher disease type II'">Gaucher disease type II</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=C0268251[DISCUI]&test_type=Clinical" ref="ncbi_uid=78653">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78653" target="_blank" href="/omim/231000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=78653">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78653" ref="ncbi_uid=78653">V</a></span></span><span class="TLline"><a href="/medgen/78653" ref="tree=GTR&ncbi_uid=78653&link_uid=78653" title="View MedGen record for 'Gaucher disease type III'">Gaucher disease type III</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383927" target="_blank" href="/omim/231000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/383927" ref="tree=GTR&ncbi_uid=383927&link_uid=383927" title="View MedGen record for 'Gaucher disease, Norrbottnian type'">Gaucher disease, Norrbottnian type</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=C1856476[DISCUI]&test_type=Clinical" ref="ncbi_uid=341563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341563" target="_blank" href="/omim/231005">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=341563">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341563" ref="ncbi_uid=341563">V</a></span></span><span class="TLline"><a href="/medgen/341563" ref="tree=GTR&ncbi_uid=341563&link_uid=341563" title="View MedGen record for 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome'">Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</a></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/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/43098" ref="tree=MeSH" title="MedGen record for Lysosomal storage disease">Lysosomal storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/42164" ref="tree=MeSH" title="MedGen record for Gaucher disease">Gaucher disease</a></span><ul><li><span class="matched_ds">Gaucher disease due to saposin C deficiency</span></li></ul></li></ul></li></ul></li></ul></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=21361&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Gaucher disease due to saposin C deficiency</span> in Orphanet.</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/32279952">Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
|
||
Liou B,
|
||
Chu Z,
|
||
Fannin V,
|
||
Blackwood R,
|
||
Peng Y,
|
||
Grabowski GA,
|
||
Davis HW,
|
||
Qi X</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2020 May;55:102735.
|
||
Epub 2020 Apr 10
|
||
doi: 10.1016/j.ebiom.2020.102735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279952" target="_blank">32279952</a><a href="/pmc/articles/PMC7251241" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11825063">Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitfield PD,
|
||
Nelson P,
|
||
Sharp PC,
|
||
Bindloss CA,
|
||
Dean C,
|
||
Ravenscroft EM,
|
||
Fong BA,
|
||
Fietz MJ,
|
||
Hopwood JJ,
|
||
Meikle PJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2002 Jan;75(1):46-55.
|
||
doi: 10.1006/mgme.2001.3269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11825063" target="_blank">11825063</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(gaucher%20disease%20due%20to%20saposin%20c%20deficiency)%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></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/32044242">Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nair S,
|
||
Bar N,
|
||
Xu ML,
|
||
Dhodapkar M,
|
||
Mistry PK</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Apr;129(4):286-291.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1016/j.ymgme.2020.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32044242" target="_blank">32044242</a><a href="/pmc/articles/PMC8223251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24070323">Saposin C protects glucocerebrosidase against α-synuclein inhibition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yap TL,
|
||
Gruschus JM,
|
||
Velayati A,
|
||
Sidransky E,
|
||
Lee JC</span><br />
|
||
<span class="medgenPMjournal">Biochemistry</span>
|
||
2013 Oct 15;52(41):7161-3.
|
||
Epub 2013 Oct 1
|
||
doi: 10.1021/bi401191v.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24070323" target="_blank">24070323</a><a href="/pmc/articles/PMC3833811" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9678511">Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oya Y,
|
||
Nakayasu H,
|
||
Fujita N,
|
||
Suzuki K,
|
||
Suzuki K</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
1998 Jul;96(1):29-40.
|
||
doi: 10.1007/s004010050857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9678511" target="_blank">9678511</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20due%20to%20saposin%20C%20deficiency%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28457694">A rare form of Gaucher disease resulting from saposin C deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang L,
|
||
Zhan X,
|
||
Ye J,
|
||
Han L,
|
||
Qiu W,
|
||
Gu X,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Blood Cells Mol Dis</span>
|
||
2018 Feb;68:60-65.
|
||
Epub 2017 Apr 3
|
||
doi: 10.1016/j.bcmd.2017.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28457694" target="_blank">28457694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21978771">Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A,
|
||
Groener JE,
|
||
Kamiński ML,
|
||
Ługowska A,
|
||
Jurkiewicz E,
|
||
Czartoryska B</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2011 Dec;104(4):627-30.
|
||
Epub 2011 Sep 16
|
||
doi: 10.1016/j.ymgme.2011.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21978771" target="_blank">21978771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17919309">Non-neuronopathic Gaucher disease due to saposin C deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A,
|
||
Czartoryska B,
|
||
Vanier MT,
|
||
Poorthuis BJ,
|
||
Groener JA,
|
||
Ługowska A,
|
||
Millat G,
|
||
Vaccaro AM,
|
||
Jurkiewicz E</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2007 Dec;72(6):538-42.
|
||
Epub 2007 Oct 7
|
||
doi: 10.1111/j.1399-0004.2007.00899.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17919309" target="_blank">17919309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11825063">Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitfield PD,
|
||
Nelson P,
|
||
Sharp PC,
|
||
Bindloss CA,
|
||
Dean C,
|
||
Ravenscroft EM,
|
||
Fong BA,
|
||
Fietz MJ,
|
||
Hopwood JJ,
|
||
Meikle PJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2002 Jan;75(1):46-55.
|
||
doi: 10.1006/mgme.2001.3269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11825063" target="_blank">11825063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8457606">Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Weely S,
|
||
Brandsma M,
|
||
Strijland A,
|
||
Tager JM,
|
||
Aerts JM</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
1993 Mar 24;1181(1):55-62.
|
||
doi: 10.1016/0925-4439(93)90090-n.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8457606" target="_blank">8457606</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20due%20to%20saposin%20C%20deficiency%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279952">Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
|
||
Liou B,
|
||
Chu Z,
|
||
Fannin V,
|
||
Blackwood R,
|
||
Peng Y,
|
||
Grabowski GA,
|
||
Davis HW,
|
||
Qi X</span><br />
|
||
<span class="medgenPMjournal">EBioMedicine</span>
|
||
2020 May;55:102735.
|
||
Epub 2020 Apr 10
|
||
doi: 10.1016/j.ebiom.2020.102735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279952" target="_blank">32279952</a><a href="/pmc/articles/PMC7251241" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32044242">Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nair S,
|
||
Bar N,
|
||
Xu ML,
|
||
Dhodapkar M,
|
||
Mistry PK</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Apr;129(4):286-291.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1016/j.ymgme.2020.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32044242" target="_blank">32044242</a><a href="/pmc/articles/PMC8223251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25926625">BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tatti M,
|
||
Motta M,
|
||
Scarpa S,
|
||
Di Bartolomeo S,
|
||
Cianfanelli V,
|
||
Tartaglia M,
|
||
Salvioli R</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2015 Aug 1;24(15):4198-211.
|
||
Epub 2015 Apr 29
|
||
doi: 10.1093/hmg/ddv153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25926625" target="_blank">25926625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21978771">Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tylki-Szymańska A,
|
||
Groener JE,
|
||
Kamiński ML,
|
||
Ługowska A,
|
||
Jurkiewicz E,
|
||
Czartoryska B</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2011 Dec;104(4):627-30.
|
||
Epub 2011 Sep 16
|
||
doi: 10.1016/j.ymgme.2011.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21978771" target="_blank">21978771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8215980">The role of neurogenetics in Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brady RO,
|
||
Barton NW,
|
||
Grabowski GA</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1993 Nov;50(11):1212-24.
|
||
doi: 10.1001/archneur.1993.00540110088009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8215980" target="_blank">8215980</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20due%20to%20saposin%20C%20deficiency%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35316504">A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohamed FE,
|
||
Ali A,
|
||
Al-Tenaiji A,
|
||
Al-Jasmi A,
|
||
Al-Jasmi F</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2022 Jun;72(6):1322-1333.
|
||
Epub 2022 Mar 22
|
||
doi: 10.1007/s12031-022-01987-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35316504" target="_blank">35316504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11825063">Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whitfield PD,
|
||
Nelson P,
|
||
Sharp PC,
|
||
Bindloss CA,
|
||
Dean C,
|
||
Ravenscroft EM,
|
||
Fong BA,
|
||
Fietz MJ,
|
||
Hopwood JJ,
|
||
Meikle PJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2002 Jan;75(1):46-55.
|
||
doi: 10.1006/mgme.2001.3269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11825063" target="_blank">11825063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9930900">Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pàmpols T,
|
||
Pineda M,
|
||
Girós ML,
|
||
Ferrer I,
|
||
Cusi V,
|
||
Chabás A,
|
||
Sanmarti FX,
|
||
Vanier MT,
|
||
Christomanou H</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
1999 Jan;97(1):91-7.
|
||
doi: 10.1007/s004010050960.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9930900" target="_blank">9930900</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2198026">Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aerts JM,
|
||
Donker-Koopman WE,
|
||
Brul S,
|
||
Van Weely S,
|
||
Sa Miranda MC,
|
||
Barranger JA,
|
||
Tager JM,
|
||
Schram AW</span><br />
|
||
<span class="medgenPMjournal">Biochem J</span>
|
||
1990 Jul 1;269(1):93-100.
|
||
doi: 10.1042/bj2690093.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2198026" target="_blank">2198026</a><a href="/pmc/articles/PMC1131536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20due%20to%20saposin%20C%20deficiency%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/38928321">Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pavan E,
|
||
Peruzzo P,
|
||
Cattarossi S,
|
||
Bergamin N,
|
||
Bordugo A,
|
||
Sechi A,
|
||
Scarpa M,
|
||
Biasizzo J,
|
||
Colucci F,
|
||
Dardis A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jun 16;25(12)
|
||
doi: 10.3390/ijms25126615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38928321" target="_blank">38928321</a><a href="/pmc/articles/PMC11204053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23108186">Cathepsin-mediated regulation of autophagy in saposin C deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tatti M,
|
||
Motta M,
|
||
Di Bartolomeo S,
|
||
Cianfanelli V,
|
||
Salvioli R</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2013 Feb 1;9(2):241-3.
|
||
Epub 2012 Oct 29
|
||
doi: 10.4161/auto.22557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23108186" target="_blank">23108186</a><a href="/pmc/articles/PMC3552889" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22652185">The role of saposin C in Gaucher disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tamargo RJ,
|
||
Velayati A,
|
||
Goldin E,
|
||
Sidransky E</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Jul;106(3):257-63.
|
||
Epub 2012 May 5
|
||
doi: 10.1016/j.ymgme.2012.04.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22652185" target="_blank">22652185</a><a href="/pmc/articles/PMC3534739" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20980829">Autophagy in Gaucher disease due to saposin C deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tatti M,
|
||
Motta M,
|
||
Salvioli R</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2011 Jan;7(1):94-5.
|
||
Epub 2011 Jan 1
|
||
doi: 10.4161/auto.7.1.13884.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20980829" target="_blank">20980829</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20015957">Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
|
||
Ran H,
|
||
Zamzow M,
|
||
Kitatani K,
|
||
Skelton MR,
|
||
Williams MT,
|
||
Vorhees CV,
|
||
Witte DP,
|
||
Hannun YA,
|
||
Grabowski GA</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2010 Feb 15;19(4):634-47.
|
||
Epub 2009 Dec 16
|
||
doi: 10.1093/hmg/ddp531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20015957" target="_blank">20015957</a><a href="/pmc/articles/PMC2807372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gaucher%20disease%20due%20to%20saposin%20C%20deficiency%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 (20)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864651%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
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<li><a href="/gtr/tests?term=C1864651%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (29)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864651%5bDISCUI%5d" target="_blank">See all (32)</a></total></li>
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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=176801" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5660[geneid]" target="_blank">View PSAP variations in ClinVar</a></li><li><a href="/nuccore/219842248" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610539" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb511af4a390645e360c31">Gaucher disease due to saposin C deficiency</a>
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