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<meta name="keywords" content="C0043208, acid cholesteryl ester hydrolase deficiency, wolman type, acid esterase deficiency, acid lipase deficiencies, acid lipase deficiency, acid lipase disease, cholesterol ester hydrolase deficiency, cholesterol ester hydrolase deficiency, complete, deficiencies, acid lipase, deficiencies, lal, deficiencies, lipa, deficiency of cholesterol esterase and triacylglycerol lipase, deficiency, acid lipase, deficiency, lal, deficiency, lipa, disease or syndrome, disease, wolman, disease, wolman's, familial visceral xanthomatosis, familial xanthomatoses, familial xanthomatosis, lal deficiencies, lal deficiency, lal deficiency, complete, lipa, lipa deficiencies, lipa deficiency, lipa deficiency, complete, lipase deficiencies, acid, lipase deficiency, acid, liposomal acid lipase deficiency, wolman type, lysosomal acid lipase deficiency, lysosomal acid lipase deficiency, acute infantile, lysosomal acid lipase deficiency, complete, primary familial xanthomatosis, primary familial xanthomatosis with adrenal calcification, wold, wolman disease, wolman disease with hypolipoproteinemia and acanthocytosis, wolman disease, cesd, wolman xanthomatosis, wolman's disease, wolman's or triglyceride storage type iii disease, wolman's xanthomatosis, wolmans disease, xanthomatoses, familial, xanthomatosis, familial, xanthomatosis, wolman, xanthomatosis, wolman's, xanthomatosis, wolmans, 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="The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=53088
|
||
ConceptID=C0043208
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Wolman disease<span class="h1sub">(WOLD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>53088</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:">C0043208</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>Acid cholesteryl ester hydrolase deficiency, Wolman type; Acid lipase disease; CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE; LAL DEFICIENCY, COMPLETE; LIPA DEFICIENCY, COMPLETE; LYSOSOMAL ACID LIPASE DEFICIENCY, ACUTE INFANTILE; LYSOSOMAL ACID LIPASE DEFICIENCY, COMPLETE; WOLD; Wolman disease with hypolipoproteinemia and acanthocytosis; Wolman disease, CESD</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Wolman's disease (82500001); Primary familial xanthomatosis with adrenal calcification (82500001); Familial visceral xanthomatosis (82500001); Deficiency of cholesterol esterase AND triacylglycerol lipase (82500001); Wolman xanthomatosis (82500001); Primary familial xanthomatosis (82500001); Wolman disease (82500001); Acid esterase deficiency (82500001); Acid lipase deficiency (82500001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive 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="LIPA - ID: 3988 - NCBI Gene" href="/gene/3988" class="medgenPMinfo">LIPA</a> (10q23.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019148" target="_blank">MONDO:0019148</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620151" target="_blank">620151</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=75233">ORPHA75233</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK305870" target="_blank">Lysosomal Acid Lipase Deficiency</a></div><div>The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK305870#lal-def.Summary" target="NBK305870">Summary</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.GeneReview_Scope" target="NBK305870">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Diagnosis" target="NBK305870">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Clinical_Characteristics" target="NBK305870">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Genetically_Related_Allelic_Diso" target="NBK305870">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Differential_Diagnosis" target="NBK305870">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Management" target="NBK305870">Management</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Genetic_Counseling" target="NBK305870">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Resources" target="NBK305870">Resources</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Molecular_Genetics" target="NBK305870">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.Chapter_Notes" target="NBK305870">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK305870#lal-def.References" target="NBK305870">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Erin P Hoffman | Marci L Barr | Monica A Giovanni<i>, et. al.</i> <a href="/books/NBK305870" target="NBK305870" title="NCBI Bookshelf: Lysosomal Acid Lipase Deficiency">view full author information</a></div></div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD) and cholesteryl ester storage disease (CESD; 278000). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001). <a target="_blank" href="http://www.omim.org/entry/620151">http://www.omim.org/entry/620151</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which typically causes liver disease. There are two forms of the condition. The most severe and rarest form begins in infancy. The less severe form can begin from childhood to late adulthood.<br /><br />In the severe, early-onset form of lysosomal acid lipase deficiency, lipids accumulate throughout the body, particularly in the liver, within the first weeks of life. This accumulation of lipids leads to several health problems, including an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food (malabsorption). In addition, affected infants often have calcium deposits in small hormone-producing glands on top of each kidney (adrenal glands), low amounts of iron in the blood (anemia), and developmental delay. Scar tissue quickly builds up in the liver, leading to liver disease (cirrhosis). Infants with this form of lysosomal acid lipase deficiency develop multi-organ failure and severe malnutrition and generally do not survive past 1 year.<br /><br />In the later-onset form of lysosomal acid lipase deficiency, signs and symptoms vary and usually begin in mid-childhood, although they can appear anytime up to late adulthood. Nearly all affected individuals develop an enlarged liver (hepatomegaly); an enlarged spleen (splenomegaly) may also occur. About two-thirds of individuals have liver fibrosis, eventually leading to cirrhosis. Approximately one-third of individuals with the later-onset form have malabsorption, diarrhea, vomiting, and steatorrhea. Individuals with this form of lysosomal acid lipase deficiency may have increased liver enzymes and high cholesterol levels, which can be detected with blood tests.<br /><br />Some people with this later-onset form of lysosomal acid lipase deficiency develop an accumulation of fatty deposits on the artery walls (atherosclerosis). Although these deposits are common in the general population, they usually begin at an earlier age in people with lysosomal acid lipase deficiency. The deposits narrow the arteries, increasing the chance of heart attack or stroke. The expected lifespan of individuals with later-onset lysosomal acid lipase deficiency depends on the severity of the associated health problems.<br /><br />The two forms of lysosomal acid lipase deficiency were once thought to be separate disorders. The early-onset form was known as Wolman disease, and the later-onset form was known as cholesteryl ester storage disease. Although these two disorders have the same genetic cause and are now considered to be forms of a single condition, these names are still sometimes used to distinguish between the forms of lysosomal acid lipase deficiency. <a target="_blank" href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency">https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency</a></div></div>
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</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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_34"><div><strong>Abdominal distention</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>34</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.">C0000731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Distention of the abdomen.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/34">Feature record</a> | <a href="/medgen?term=%22Abdominal%20distention%22%5BClinical%20Features%5D%20OR%2034%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<div class="spaceAbove">Abnormally increased size of the liver.</div>
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<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>
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<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_58125"><div><strong>Acute liver failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>58125</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.">C0162557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/58125">Feature record</a> | <a href="/medgen?term=%22Acute%20liver%20failure%22%5BClinical%20Features%5D%20OR%2058125%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<div class="spaceAbove">Abnormal increased size of the spleen.</div>
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<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>
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<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Body temperature elevated above the normal range.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1620002"><div><strong>Reduced lysosomal acid lipase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620002</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.">C4531280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1620002">Feature record</a> | <a href="/medgen?term=%22Reduced%20lysosomal%20acid%20lipase%20activity%22%5BClinical%20Features%5D%20OR%201620002%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_78785"><div><strong>Adrenal calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78785</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.">C0271750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Calcification within the adrenal glands.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78785">Feature record</a> | <a href="/medgen?term=%22Adrenal%20calcification%22%5BClinical%20Features%5D%20OR%2078785%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1620002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced lysosomal acid lipase activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_34" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal distention</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_58125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute liver failure</a></span></li><li class="TLline">
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||
<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">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal calcification</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">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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||
<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=C5574740[DISCUI]&test_type=Clinical" ref="ncbi_uid=1807768">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/NBK305870/" ref="ncbi_uid=1807768">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1807768" ref="ncbi_uid=1807768">V</a></span></span><span class="TLline"><a href="/medgen/1807768" ref="tree=GTR&ncbi_uid=1807768&link_uid=1807768" title="View MedGen record for 'Lysosomal acid lipase deficiency'">Lysosomal acid lipase deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008384[DISCUI]&test_type=Clinical" ref="ncbi_uid=40266">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=40266" target="_blank" href="/omim/278000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK305870/" ref="ncbi_uid=40266">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=40266" ref="ncbi_uid=40266">V</a></span></span><span class="TLline"><a href="/medgen/40266" ref="tree=GTR&ncbi_uid=40266&link_uid=40266" title="View MedGen record for 'Cholesteryl ester storage disease'">Cholesteryl ester storage disease</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0043208[DISCUI]&test_type=Clinical" ref="ncbi_uid=53088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=53088" target="_blank" href="/omim/613497">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK305870/" ref="ncbi_uid=53088">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=53088" ref="ncbi_uid=53088">V</a></span></span><span class="TLline">Wolman disease</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/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/6106" ref="tree=MeSH" title="MedGen record for Lipid Metabolism, Inborn Errors">Lipid Metabolism, Inborn Errors</a></span><ul><li><span class="TLline"><a href="/medgen/9780" ref="tree=MeSH" title="MedGen record for Lysosomal lipid storage disorder">Lysosomal lipid storage disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1807768" ref="tree=MeSH" title="MedGen record for Lysosomal acid lipase deficiency">Lysosomal acid lipase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/40266" ref="tree=MeSH" title="MedGen record for Cholesteryl ester storage disease">Cholesteryl ester storage disease</a></span><ul><li><span class="matched_ds">Wolman disease</span></li></ul></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=11067&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Wolman disease</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/36555187">Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Mashima R,
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Takada S</span><br />
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||
<span class="medgenPMjournal">Int J Mol Sci</span>
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||
2022 Dec 8;23(24)
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doi: 10.3390/ijms232415549.
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<span class="bold">PMID: </span><a href="/pubmed/36555187" target="_blank">36555187</a><a href="/pmc/articles/PMC9779616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/25345094">Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Porto AF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
|
||
2014 Sep;12 Suppl 1:125-32.
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||
<span class="bold">PMID: </span><a href="/pubmed/25345094" target="_blank">25345094</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/7789014">Wolman disease and its treatment.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolman M</span><br />
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||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1995 Apr;34(4):207-12.
|
||
doi: 10.1177/000992289503400406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7789014" target="_blank">7789014</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22wolman%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (13)</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/38354141">High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eskandari SK,
|
||
Revenich EGM,
|
||
Pot DJ,
|
||
de Boer F,
|
||
Bierings M,
|
||
van Spronsen FJ,
|
||
van Hasselt PM,
|
||
Lindemans CA,
|
||
Lubout CMA</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Feb 15;390(7):623-629.
|
||
doi: 10.1056/NEJMoa2313398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38354141" target="_blank">38354141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37903030">Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jackson J,
|
||
Farajzadeh J,
|
||
Turner R,
|
||
Yukutake K,
|
||
Baghdasaryan E,
|
||
Denis ES,
|
||
Barseghyan T,
|
||
Herrera P,
|
||
Begaj S,
|
||
Pietruszka M,
|
||
Valles-Ayoub Y</span><br />
|
||
<span class="medgenPMjournal">Genet Test Mol Biomarkers</span>
|
||
2023 Oct;27(10):319-324.
|
||
doi: 10.1089/gtmb.2023.0003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37903030" target="_blank">37903030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30866656">Lysosomal Acid Lipase in Lipid Metabolism and Beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li F,
|
||
Zhang H</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2019 May;39(5):850-856.
|
||
doi: 10.1161/ATVBAHA.119.312136.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30866656" target="_blank">30866656</a><a href="/pmc/articles/PMC6482091" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28197978">Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maciejko JJ</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiovasc Drugs</span>
|
||
2017 Jun;17(3):217-231.
|
||
doi: 10.1007/s40256-017-0216-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28197978" target="_blank">28197978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16877765">Overexpression of lysosomal acid lipase and other proteins in atherosclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zschenker O,
|
||
Illies T,
|
||
Ameis D</span><br />
|
||
<span class="medgenPMjournal">J Biochem</span>
|
||
2006 Jul;140(1):23-38.
|
||
doi: 10.1093/jb/mvj137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16877765" target="_blank">16877765</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wolman%20disease%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 (54)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37028992">Recent insights into lysosomal acid lipase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korbelius M,
|
||
Kuentzel KB,
|
||
Bradić I,
|
||
Vujić N,
|
||
Kratky D</span><br />
|
||
<span class="medgenPMjournal">Trends Mol Med</span>
|
||
2023 Jun;29(6):425-438.
|
||
Epub 2023 Apr 5
|
||
doi: 10.1016/j.molmed.2023.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37028992" target="_blank">37028992</a><a href="/pmc/articles/PMC7614602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694177">Diet-refractory NASH in an elderly woman.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manka P,
|
||
Baba HA,
|
||
Wedemeyer H,
|
||
Kahraman A</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2021 Oct;70(10):1924-1945.
|
||
Epub 2020 Jul 21
|
||
doi: 10.1136/gutjnl-2020-320740.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694177" target="_blank">32694177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28987255">Genetic Testing in Liver Disease: What to Order, in Whom, and When.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schonfeld EA,
|
||
Brown RS Jr</span><br />
|
||
<span class="medgenPMjournal">Clin Liver Dis</span>
|
||
2017 Nov;21(4):673-686.
|
||
Epub 2017 Jul 29
|
||
doi: 10.1016/j.cld.2017.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28987255" target="_blank">28987255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24521666">Wolman disease in an infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shenoy P,
|
||
Karegowda L,
|
||
Sripathi S,
|
||
Mohammed N</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2014 Feb 12;2014
|
||
doi: 10.1136/bcr-2014-203656.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24521666" target="_blank">24521666</a><a href="/pmc/articles/PMC3926402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8635788">Wolman's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uniyal KJ,
|
||
Colaco MP,
|
||
Bharath NS,
|
||
Pradhan MR,
|
||
Murthy AK</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1995 Feb;32(2):232-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8635788" target="_blank">8635788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wolman%20disease%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 (149)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37028992">Recent insights into lysosomal acid lipase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korbelius M,
|
||
Kuentzel KB,
|
||
Bradić I,
|
||
Vujić N,
|
||
Kratky D</span><br />
|
||
<span class="medgenPMjournal">Trends Mol Med</span>
|
||
2023 Jun;29(6):425-438.
|
||
Epub 2023 Apr 5
|
||
doi: 10.1016/j.molmed.2023.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37028992" target="_blank">37028992</a><a href="/pmc/articles/PMC7614602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694177">Diet-refractory NASH in an elderly woman.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manka P,
|
||
Baba HA,
|
||
Wedemeyer H,
|
||
Kahraman A</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2021 Oct;70(10):1924-1945.
|
||
Epub 2020 Jul 21
|
||
doi: 10.1136/gutjnl-2020-320740.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694177" target="_blank">32694177</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27649344">Sebelipase alfa (Kanuma) for lysosomal acid lipase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Med Lett Drugs Ther</span>
|
||
2016 Sep 26;58(1504):e126-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27649344" target="_blank">27649344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26452566">Sebelipase alfa: first global approval.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shirley M</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2015 Nov;75(16):1935-40.
|
||
doi: 10.1007/s40265-015-0479-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26452566" target="_blank">26452566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7789014">Wolman disease and its treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolman M</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1995 Apr;34(4):207-12.
|
||
doi: 10.1177/000992289503400406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7789014" target="_blank">7789014</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wolman%20disease%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 (55)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33609508">Gastrointestinal Manifestations of a Rare Lipid Storage Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz MM,
|
||
Martinez M,
|
||
Ko HM</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2021 Oct;161(4):e5-e6.
|
||
Epub 2021 Feb 18
|
||
doi: 10.1053/j.gastro.2021.02.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33609508" target="_blank">33609508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31180157">Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Del Angel G,
|
||
Hutchinson AT,
|
||
Jain NK,
|
||
Forbes CD,
|
||
Reynders J</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2019 Nov;40(11):2007-2020.
|
||
Epub 2019 Jul 12
|
||
doi: 10.1002/humu.23837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31180157" target="_blank">31180157</a><a href="/pmc/articles/PMC6852163" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28532785">Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lukacs Z,
|
||
Barr M,
|
||
Hamilton J</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2017 Aug;471:201-205.
|
||
Epub 2017 May 19
|
||
doi: 10.1016/j.cca.2017.05.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28532785" target="_blank">28532785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27423329">Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sjouke B,
|
||
Defesche JC,
|
||
de Randamie JSE,
|
||
Wiegman A,
|
||
Fouchier SW,
|
||
Hovingh GK</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2016 Aug;251:263-265.
|
||
Epub 2016 Jul 9
|
||
doi: 10.1016/j.atherosclerosis.2016.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27423329" target="_blank">27423329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8635788">Wolman's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uniyal KJ,
|
||
Colaco MP,
|
||
Bharath NS,
|
||
Pradhan MR,
|
||
Murthy AK</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1995 Feb;32(2):232-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8635788" target="_blank">8635788</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wolman%20disease%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33964214">Lysosomal acid lipase deficiency in pediatric patients: a scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witeck CDR,
|
||
Schmitz AC,
|
||
de Oliveira JMD,
|
||
Porporatti AL,
|
||
De Luca Canto G,
|
||
Pires MMS</span><br />
|
||
<span class="medgenPMjournal">J Pediatr (Rio J)</span>
|
||
2022 Jan-Feb;98(1):4-14.
|
||
Epub 2021 May 6
|
||
doi: 10.1016/j.jped.2021.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33964214" target="_blank">33964214</a><a href="/pmc/articles/PMC9432115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31180157">Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Del Angel G,
|
||
Hutchinson AT,
|
||
Jain NK,
|
||
Forbes CD,
|
||
Reynders J</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2019 Nov;40(11):2007-2020.
|
||
Epub 2019 Jul 12
|
||
doi: 10.1002/humu.23837.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31180157" target="_blank">31180157</a><a href="/pmc/articles/PMC6852163" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30665623">Lysosomal Acid Lipase: From Cellular Lipid Handler to Immunometabolic Target.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gomaraschi M,
|
||
Bonacina F,
|
||
Norata GD</span><br />
|
||
<span class="medgenPMjournal">Trends Pharmacol Sci</span>
|
||
2019 Feb;40(2):104-115.
|
||
Epub 2019 Jan 18
|
||
doi: 10.1016/j.tips.2018.12.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30665623" target="_blank">30665623</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28659158">Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aguisanda F,
|
||
Yeh CD,
|
||
Chen CZ,
|
||
Li R,
|
||
Beers J,
|
||
Zou J,
|
||
Thorne N,
|
||
Zheng W</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Jun 28;12(1):120.
|
||
doi: 10.1186/s13023-017-0670-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28659158" target="_blank">28659158</a><a href="/pmc/articles/PMC5490176" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9126667">Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rothe G,
|
||
Stöhr J,
|
||
Fehringer P,
|
||
Gasche C,
|
||
Schmitz G</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
1997 Apr;130(1-2):215-21.
|
||
doi: 10.1016/s0021-9150(97)06065-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9126667" target="_blank">9126667</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wolman%20disease%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 (56)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30315827">The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carter A,
|
||
Brackley SM,
|
||
Gao J,
|
||
Mann JP</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2019 Jan;70(1):142-150.
|
||
Epub 2018 Oct 11
|
||
doi: 10.1016/j.jhep.2018.09.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30315827" target="_blank">30315827</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Wolman%20disease%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0043208%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043208%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043208%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043208%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043208%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0043208%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0043208%5bDISCUI%5d" target="_blank">See all (28)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=620151" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=75233" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Wolman%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22wolman%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Wolman%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=613497" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3988[geneid]" target="_blank">View LIPA variations in ClinVar</a></li><li><a href="/nuccore/194018742" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=620151" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cholesteryl_ester_storage_disease" target="_blank">MalaCards</a></li><li><a href="https://www.malacards.org/card/wolman_disease" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Wolman%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7899/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/26225414" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Wolman%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Wolman%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=53088" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=53088" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0043208[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0043208[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=53088" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=53088" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=53088" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=53088" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=53088" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=53088" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=53088" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7dc0f4a390645ed4676d">Wolman disease</a>
|
||
<div class="ralinkpop offscreen_noflow">Wolman disease<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca7dbe84f3725e59c8b56b">C0043208[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7dbd84f3725e59c8b1fa">C3281001[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(283)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C3281001[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
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