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<meta name="keywords" content="C1857970, angptl3, angptl3 hypobetalipoproteinemia, combined familial hypolipidemia, disease or syndrome, familial hypobetalipoproteinemia 2, familial hypobetalipoproteinemia type 2, fhbl2, hypobetalipoproteinemia caused by mutation in angptl3, hypobetalipoproteinemia, familial, 2, hypobetalipoproteinemia, familial, type 2, hypolipidemia, familial, combined, 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="Familial combined hypolipidemia is not associated with any pathologic signs or symptoms; diagnosis is suggested by low plasma concentrations of lipids. The lipid profile is one of hypocholesterolemia with low plasma low-density lipoprotein (LDL) cholesterol, low plasma high-density lipoprotein (HDL) cholesterol, low plasma triglycerides, and low plasma apolipoprotein (apo) B and apo A-I levels." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=341895
|
||
ConceptID=C1857970
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial hypobetalipoproteinemia 2<span class="h1sub">(FHBL2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341895</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:">C1857970</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>HYPOLIPIDEMIA, FAMILIAL, COMBINED</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="ANGPTL3 - ID: 27329 - NCBI Gene" href="/gene/27329" class="medgenPMinfo">ANGPTL3</a> (1p31.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011505" target="_blank">MONDO:0011505</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/605019" target="_blank">605019</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK593236" target="_blank">Familial Combined Hypolipidemia</a></div><div>Familial combined hypolipidemia is not associated with any pathologic signs or symptoms; diagnosis is suggested by low plasma concentrations of lipids. The lipid profile is one of hypocholesterolemia with low plasma low-density lipoprotein (LDL) cholesterol, low plasma high-density lipoprotein (HDL) cholesterol, low plasma triglycerides, and low plasma apolipoprotein (apo) B and apo A-I levels. [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/NBK593236#fch.Summary" target="NBK593236">Summary</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Diagnosis" target="NBK593236">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Clinical_Characteristics" target="NBK593236">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Genetically_Related_Allelic_Disorder" target="NBK593236">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Differential_Diagnosis" target="NBK593236">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Management" target="NBK593236">Management</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Genetic_Counseling" target="NBK593236">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Resources" target="NBK593236">Resources</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Molecular_Genetics" target="NBK593236">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.Chapter_Notes" target="NBK593236">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK593236#fch.References" target="NBK593236">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
John R Burnett | Amanda J Hooper | Robert A Hegele <a href="/books/NBK593236" target="NBK593236" title="NCBI Bookshelf: Familial Combined Hypolipidemia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; 246700), abetalipoproteinemia (200100), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012).
|
||
For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (615558). <a target="_blank" href="http://www.omim.org/entry/605019">http://www.omim.org/entry/605019</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive). <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-hypobetalipoproteinemia">https://medlineplus.gov/genetics/condition/familial-hypobetalipoproteinemia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_488913"><div><strong>Hypotriglyceridemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488913</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.">C0542037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decrease in the level of triglycerides in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488913">Feature record</a> | <a href="/medgen?term=%22Hypotriglyceridemia%22%5BClinical%20Features%5D%20OR%20488913%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_776554"><div><strong>Decreased LDL cholesterol concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>776554</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.">C0853085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased concentration of low-density lipoprotein cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/776554">Feature record</a> | <a href="/medgen?term=%22Decreased%20LDL%20cholesterol%20concentration%22%5BClinical%20Features%5D%20OR%20776554%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_776554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased LDL cholesterol concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotriglyceridemia</a></span></li></ul></li></ul></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/35842345">AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long MT,
|
||
Noureddin M,
|
||
Lim JK</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Sep;163(3):764-774.e1.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1053/j.gastro.2022.06.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35842345" target="_blank">35842345</a><a href="/pmc/articles/PMC9398982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33275938">New Classification and Management of Abetalipoproteinemia and Related Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bredefeld C,
|
||
Peretti N,
|
||
Hussain MM;
|
||
Medical Advisory Panel</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2021 May;160(6):1912-1916.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1053/j.gastro.2020.11.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33275938" target="_blank">33275938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25335495">Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burnett JR,
|
||
Bell DA,
|
||
Hooper AJ,
|
||
Hegele RA</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Jun;23(6):890-.
|
||
Epub 2014 Oct 22
|
||
doi: 10.1038/ejhg.2014.225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25335495" target="_blank">25335495</a><a href="/pmc/articles/PMC4795065" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20hypobetalipoproteinemia%202)%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 (9)</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/35842345">AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long MT,
|
||
Noureddin M,
|
||
Lim JK</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Sep;163(3):764-774.e1.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1053/j.gastro.2022.06.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35842345" target="_blank">35842345</a><a href="/pmc/articles/PMC9398982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26754661">The role of ANGPTL3 in controlling lipoprotein metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tikka A,
|
||
Jauhiainen M</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2016 May;52(2):187-93.
|
||
Epub 2016 Jan 11
|
||
doi: 10.1007/s12020-015-0838-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26754661" target="_blank">26754661</a><a href="/pmc/articles/PMC4824806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22027213">Neuroacanthocytosis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung HH,
|
||
Danek A,
|
||
Walker RH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Oct 25;6:68.
|
||
doi: 10.1186/1750-1172-6-68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22027213" target="_blank">22027213</a><a href="/pmc/articles/PMC3212896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20626336">Hypocholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moutzouri E,
|
||
Elisaf M,
|
||
Liberopoulos EN</span><br />
|
||
<span class="medgenPMjournal">Curr Vasc Pharmacol</span>
|
||
2011 Mar;9(2):200-12.
|
||
doi: 10.2174/157016111794519354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20626336" target="_blank">20626336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11284140">Acanthocytosis and neurological disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevenson VL,
|
||
Hardie RJ</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2001 Feb;248(2):87-94.
|
||
doi: 10.1007/s004150170241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11284140" target="_blank">11284140</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%202%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 (66)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35842345">AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long MT,
|
||
Noureddin M,
|
||
Lim JK</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Sep;163(3):764-774.e1.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1053/j.gastro.2022.06.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35842345" target="_blank">35842345</a><a href="/pmc/articles/PMC9398982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22959141">Chylomicron retention disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desaldeleer C,
|
||
Henno S,
|
||
Bruneau B,
|
||
Dabadie A</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2013 Feb;45(2):e3.
|
||
Epub 2012 Sep 5
|
||
doi: 10.1016/j.dld.2012.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22959141" target="_blank">22959141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22027213">Neuroacanthocytosis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung HH,
|
||
Danek A,
|
||
Walker RH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Oct 25;6:68.
|
||
doi: 10.1186/1750-1172-6-68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22027213" target="_blank">22027213</a><a href="/pmc/articles/PMC3212896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20626336">Hypocholesterolemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moutzouri E,
|
||
Elisaf M,
|
||
Liberopoulos EN</span><br />
|
||
<span class="medgenPMjournal">Curr Vasc Pharmacol</span>
|
||
2011 Mar;9(2):200-12.
|
||
doi: 10.2174/157016111794519354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20626336" target="_blank">20626336</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4361962">Lipoprotein deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lloyd JK</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol Metab</span>
|
||
1973 Mar;2(1):127-47.
|
||
doi: 10.1016/s0300-595x(73)80030-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4361962" target="_blank">4361962</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%202%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 (66)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35128635">Acanthocytosis in an alectinib-treated patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Legland Ép Dejean AM,
|
||
Plantamura J,
|
||
Arnoux I,
|
||
Paleiron N,
|
||
Loosveld M,
|
||
Buono Ép Foucher B</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2022 Apr;197(2):131.
|
||
Epub 2022 Feb 7
|
||
doi: 10.1111/bjh.18020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35128635" target="_blank">35128635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32039990">Hypobetalipoproteinemia and abetalipoproteinemia: liver disease and cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welty FK</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Lipidol</span>
|
||
2020 Apr;31(2):49-55.
|
||
doi: 10.1097/MOL.0000000000000663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32039990" target="_blank">32039990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6543837">Familial hypobetalipoproteinaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roma E,
|
||
Klontza D,
|
||
Kairis M,
|
||
Pangalis A,
|
||
Karpouzas J,
|
||
Matsaniotis N</span><br />
|
||
<span class="medgenPMjournal">Helv Paediatr Acta</span>
|
||
1984 May;39(2):145-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6543837" target="_blank">6543837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/195758">Malabsorption in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson CM</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol</span>
|
||
1977 May;6(2):355-75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/195758" target="_blank">195758</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/50260">Symposium on pathology of the gastrointestinal tract-Part II. Small intestinal biopsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perera DR,
|
||
Weinstein WM,
|
||
Rubin CE</span><br />
|
||
<span class="medgenPMjournal">Hum Pathol</span>
|
||
1975 Mar;6(2):157-217.
|
||
doi: 10.1016/s0046-8177(75)80176-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/50260" target="_blank">50260</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%202%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 (35)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35842345">AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long MT,
|
||
Noureddin M,
|
||
Lim JK</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Sep;163(3):764-774.e1.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1053/j.gastro.2022.06.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35842345" target="_blank">35842345</a><a href="/pmc/articles/PMC9398982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33994405">Current Diagnosis and Management of Abetalipoproteinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takahashi M,
|
||
Okazaki H,
|
||
Ohashi K,
|
||
Ogura M,
|
||
Ishibashi S,
|
||
Okazaki S,
|
||
Hirayama S,
|
||
Hori M,
|
||
Matsuki K,
|
||
Yokoyama S,
|
||
Harada-Shiba M</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2021 Oct 1;28(10):1009-1019.
|
||
Epub 2021 May 16
|
||
doi: 10.5551/jat.RV17056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33994405" target="_blank">33994405</a><a href="/pmc/articles/PMC8560840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31253576">Novel mutations of SAR1B gene in four children with chylomicron retention disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simone ML,
|
||
Rabacchi C,
|
||
Kuloglu Z,
|
||
Kansu A,
|
||
Ensari A,
|
||
Demir AM,
|
||
Hizal G,
|
||
Di Leo E,
|
||
Bertolini S,
|
||
Calandra S,
|
||
Tarugi P</span><br />
|
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<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2019 Jul-Aug;13(4):554-562.
|
||
Epub 2019 May 30
|
||
doi: 10.1016/j.jacl.2019.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31253576" target="_blank">31253576</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22027213">Neuroacanthocytosis syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung HH,
|
||
Danek A,
|
||
Walker RH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Oct 25;6:68.
|
||
doi: 10.1186/1750-1172-6-68.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22027213" target="_blank">22027213</a><a href="/pmc/articles/PMC3212896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17112370">Autosomal recessive cerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palau F,
|
||
Espinós C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Nov 17;1:47.
|
||
doi: 10.1186/1750-1172-1-47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17112370" target="_blank">17112370</a><a href="/pmc/articles/PMC1664553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%202%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36047410">Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rimbert A,
|
||
Yeung MW,
|
||
Dalila N,
|
||
Thio CHL,
|
||
Yu H,
|
||
Loaiza N,
|
||
Oldoni F,
|
||
van der Graaf A,
|
||
Wang S,
|
||
Said MA,
|
||
Blauw LL,
|
||
Girardeau A,
|
||
Bray L,
|
||
Caillaud A,
|
||
Bloks VW,
|
||
Marrec M,
|
||
Moulin P,
|
||
Rensen PCN,
|
||
van de Sluis B,
|
||
Snieder H,
|
||
Di Filippo M,
|
||
van der Harst P,
|
||
Tybjaerg-Hansen A,
|
||
Zimmerman P,
|
||
Cariou B,
|
||
Kuivenhoven JA</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2022 Oct;42(10):1262-1271.
|
||
Epub 2022 Sep 1
|
||
doi: 10.1161/ATVBAHA.122.317514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36047410" target="_blank">36047410</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35842345">AGA Clinical Practice Update: Diagnosis and Management of Nonalcoholic Fatty Liver Disease in Lean Individuals: Expert Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long MT,
|
||
Noureddin M,
|
||
Lim JK</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2022 Sep;163(3):764-774.e1.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1053/j.gastro.2022.06.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35842345" target="_blank">35842345</a><a href="/pmc/articles/PMC9398982" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31253576">Novel mutations of SAR1B gene in four children with chylomicron retention disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simone ML,
|
||
Rabacchi C,
|
||
Kuloglu Z,
|
||
Kansu A,
|
||
Ensari A,
|
||
Demir AM,
|
||
Hizal G,
|
||
Di Leo E,
|
||
Bertolini S,
|
||
Calandra S,
|
||
Tarugi P</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2019 Jul-Aug;13(4):554-562.
|
||
Epub 2019 May 30
|
||
doi: 10.1016/j.jacl.2019.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31253576" target="_blank">31253576</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8527219">The hypobetalipoproteinemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schonfeld G</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Nutr</span>
|
||
1995;15:23-34.
|
||
doi: 10.1146/annurev.nu.15.070195.000323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8527219" target="_blank">8527219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6708089">Mechanism of red blood cell acanthocytosis and echinocytosis in vivo.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lange Y,
|
||
Steck TL</span><br />
|
||
<span class="medgenPMjournal">J Membr Biol</span>
|
||
1984;77(2):153-9.
|
||
doi: 10.1007/BF01925863.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6708089" target="_blank">6708089</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%202%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 (53)</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/27804036">Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noto D,
|
||
Arca M,
|
||
Tarugi P,
|
||
Cefalù AB,
|
||
Barbagallo CM,
|
||
Averna MR</span><br />
|
||
<span class="medgenPMjournal">Acta Diabetol</span>
|
||
2017 Feb;54(2):111-122.
|
||
Epub 2016 Nov 2
|
||
doi: 10.1007/s00592-016-0931-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27804036" target="_blank">27804036</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%202%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">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
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<div class="portlet mgSection" id="ID_106">
|
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<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=C1857970%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857970%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C1857970%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1857970%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<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>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605019" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20hypobetalipoproteinemia%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20hypobetalipoproteinemia%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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</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>
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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=604774" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=27329[geneid]" target="_blank">View ANGPTL3 variations in ClinVar</a></li><li><a href="/nuccore/325053740" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=605019" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/hypobetalipoproteinemia_familial_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20hypobetalipoproteinemia%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-hypobetalipoproteinemia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15376/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">
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<h3>Reviews</h3>
|
||
</div>
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|
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|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/37471510" 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=Familial%20hypobetalipoproteinemia%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Familial%20hypobetalipoproteinemia%202%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>
|
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=341895" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=341895" ref="log$=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=C1857970[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1857970[DISCUI]&test_type=Clinical" ref="log$=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=341895" ref="log$=recordlinks">MeSH</a>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=341895" ref="log$=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=341895" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=341895" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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|
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=341895" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=341895" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=341895" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=341895" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Recent activity</h3>
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|
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<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">
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Clear
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<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">
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