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<meta name="keywords" content="C4551990, acanthocytosis with hypobetalipoproteinemia, apob, apob hypobetalipoproteinemia, disease or syndrome, familial hypobetalipoproteinemia 1, familial hypobetalipoproteinemia type 1, fhbl, fhbl1, hypobetalipoproteinemia caused by mutation in apob, hypobetalipoproteinemia, familial, hypobetalipoproteinemia, familial, 1, hypobetalipoproteinemia, familial, type 1, hypobetalipoproteinemia, normotriglyceridemic, 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="Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. Affected individuals typically have plasma total cholesterol, LDL cholesterol, and apo B levels below the fifth centile for age and sex. Acanthocytosis, elevated liver enzymes, and hyperbilirubinemia may also be found. The most common clinical findings are hepatomegaly, steatorrhea, and failure to thrive / growth deficiency. In the absence of treatment, affected individuals can develop atypical pigmentation of the retina; progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle pain or weakness; dysarthria; ataxia; tremors; and steatohepatitis, fibrosis, and rarely, cirrhosis of the liver. Individuals with a heterozygous, typically truncating pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis. However, about 5%-10% of individuals with heterozygous APOB-FHBL develop relatively more severe nonalcoholic steatohepatitis requiring medical attention and occasionally progressing to cirrhosis, albeit very rarely." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1639219
|
||
ConceptID=C4551990
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial hypobetalipoproteinemia 1<span class="h1sub">(FHBL1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639219</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:">C4551990</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>Acanthocytosis with hypobetalipoproteinemia; Hypobetalipoproteinemia, normotriglyceridemic</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="APOB - ID: 338 - NCBI Gene" href="/gene/338" class="medgenPMinfo">APOB</a> (2p24.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014252" target="_blank">MONDO:0014252</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615558" target="_blank">615558</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/NBK570370" target="_blank">APOB-Related Familial Hypobetalipoproteinemia</a></div><div>Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. Affected individuals typically have plasma total cholesterol, LDL cholesterol, and apo B levels below the fifth centile for age and sex. Acanthocytosis, elevated liver enzymes, and hyperbilirubinemia may also be found. The most common clinical findings are hepatomegaly, steatorrhea, and failure to thrive / growth deficiency. In the absence of treatment, affected individuals can develop atypical pigmentation of the retina; progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle pain or weakness; dysarthria; ataxia; tremors; and steatohepatitis, fibrosis, and rarely, cirrhosis of the liver. Individuals with a heterozygous, typically truncating pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis. However, about 5%-10% of individuals with heterozygous APOB-FHBL develop relatively more severe nonalcoholic steatohepatitis requiring medical attention and occasionally progressing to cirrhosis, albeit very rarely. [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/NBK570370#apob-hbl.Summary" target="NBK570370">Summary</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.GeneReview_Scope" target="NBK570370">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Diagnosis" target="NBK570370">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Clinical_Characteristics" target="NBK570370">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Genetically_Related_Allelic_Dis" target="NBK570370">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Differential_Diagnosis" target="NBK570370">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Management" target="NBK570370">Management</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Genetic_Counseling" target="NBK570370">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Resources" target="NBK570370">Resources</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Molecular_Genetics" target="NBK570370">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.Chapter_Notes" target="NBK570370">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK570370#apob-hbl.References" target="NBK570370">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
John R Burnett | Amanda J Hooper | Robert A Hegele <a href="/books/NBK570370" target="NBK570370" title="NCBI Bookshelf: APOB-Related Familial Hypobetalipoproteinemia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL; 200100) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FHBL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by Lee and Hegele, 2014).
|
||
Genetic Heterogeneity of Familial Hypobetalipoproteinemia
|
||
Familial hypobetalipoproteinemia-2 (FHBL2; 605019) is caused by mutation in the ANGPTL3 gene (604774) on chromosome 1p31. <a target="_blank" href="http://www.omim.org/entry/615558">http://www.omim.org/entry/615558</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_20948"><div><strong>Steatorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20948</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.">C0038238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20948">Feature record</a> | <a href="/medgen?term=%22Steatorrhea%22%5BClinical%20Features%5D%20OR%2020948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356648"><div><strong>Reduced tendon reflexes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356648</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.">C1866934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356648">Feature record</a> | <a href="/medgen?term=%22Reduced%20tendon%20reflexes%22%5BClinical%20Features%5D%20OR%20356648%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195801"><div><strong>Acanthocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195801</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.">C0687751</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195801">Feature record</a> | <a href="/medgen?term=%22Acanthocytosis%22%5BClinical%20Features%5D%20OR%20195801%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57731"><div><strong>Decreased HDL cholesterol concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57731</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.">C0151691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased concentration of high-density lipoprotein cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57731">Feature record</a> | <a href="/medgen?term=%22Decreased%20HDL%20cholesterol%20concentration%22%5BClinical%20Features%5D%20OR%2057731%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57479"><div><strong>Hypocholesterolemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57479</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An decreased concentration of cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57479">Feature record</a> | <a href="/medgen?term=%22Hypocholesterolemia%22%5BClinical%20Features%5D%20OR%2057479%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57497"><div><strong>Elevated circulating aspartate aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57497</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.">C0151904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57497">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20aspartate%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57740"><div><strong>Elevated circulating alanine aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57740</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.">C0151905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high concentration in the circulation of alanine aminotransferase (ALT).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57740">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alanine%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167238"><div><strong>Hypertriglyceridemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167238</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.">C0813230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the level of triglycerides in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167238">Feature record</a> | <a href="/medgen?term=%22Hypertriglyceridemia%22%5BClinical%20Features%5D%20OR%20167238%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="divPopper rprt" id="clin_1853278"><div><strong>Decreased circulating vitamin E concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853278</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.">C5779643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1853278">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20vitamin%20E%20concentration%22%5BClinical%20Features%5D%20OR%201853278%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1853267"><div><strong>Reduced circulating vitamin A concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853267</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.">C5848160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of vitamin A below the lower limit of normal in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1853267">Feature record</a> | <a href="/medgen?term=%22Reduced%20circulating%20vitamin%20A%20concentration%22%5BClinical%20Features%5D%20OR%201853267%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48432"><div><strong>Retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48432</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.">C0035304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48432">Feature record</a> | <a href="/medgen?term=%22Retinal%20degeneration%22%5BClinical%20Features%5D%20OR%2048432%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632921"><div><strong>Rod-cone dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632921</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.">C4551714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632921">Feature record</a> | <a href="/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acanthocytosis</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1853278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating vitamin E concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased HDL cholesterol concentration</a></span></li><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_57740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alanine aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating aspartate aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertriglyceridemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypocholesterolemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1853267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced circulating vitamin A concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steatorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced tendon reflexes</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/38710625">Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakabayashi T,
|
||
Takahashi M,
|
||
Okazaki H,
|
||
Okazaki S,
|
||
Yokote K,
|
||
Tada H,
|
||
Ogura M,
|
||
Ishigaki Y,
|
||
Yamashita S,
|
||
Harada-Shiba M;
|
||
Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2024 Jul 1;31(7):1005-1023.
|
||
Epub 2024 May 3
|
||
doi: 10.5551/jat.RV22018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38710625" target="_blank">38710625</a><a href="/pmc/articles/PMC11224688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22familial%20hypobetalipoproteinemia%201%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 (1)</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/33207932">Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rimbert A,
|
||
Vanhoye X,
|
||
Coulibaly D,
|
||
Marrec M,
|
||
Pichelin M,
|
||
Charrière S,
|
||
Peretti N,
|
||
Valéro R,
|
||
Wargny M,
|
||
Carrié A,
|
||
Lindenbaum P,
|
||
Deleuze JF,
|
||
Genin E,
|
||
Redon R,
|
||
Rollat-Farnier PA,
|
||
Goxe D,
|
||
Degraef G,
|
||
Marmontel O,
|
||
Divry E,
|
||
Bigot-Corbel E,
|
||
Moulin P,
|
||
Cariou B,
|
||
Di Filippo M</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2021 Jan;41(1):e63-e71.
|
||
Epub 2020 Nov 19
|
||
doi: 10.1161/ATVBAHA.120.315491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33207932" target="_blank">33207932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31111608">Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lima Pessoa E,
|
||
Costa Vilella Dos Reis M,
|
||
Sayuri Yamamoto T,
|
||
Ribeiro Neto M,
|
||
Ferraro O,
|
||
Alves MJ,
|
||
Guedes Coelho Lopes R</span><br />
|
||
<span class="medgenPMjournal">Breast J</span>
|
||
2019 Jul;25(4):763-765.
|
||
Epub 2019 May 20
|
||
doi: 10.1111/tbj.13341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31111608" target="_blank">31111608</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/7078433">Prevalence of familial hyper- and hypolipoproteinemias: the Princeton School District Family Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laskarzewski PM,
|
||
Khoury P,
|
||
Morrison JA,
|
||
Kelly K,
|
||
Mellies MJ,
|
||
Glueck CJ</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
1982 Jun;31(6):558-77.
|
||
doi: 10.1016/0026-0495(82)90095-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7078433" target="_blank">7078433</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%201%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 (67)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38710625">Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wakabayashi T,
|
||
Takahashi M,
|
||
Okazaki H,
|
||
Okazaki S,
|
||
Yokote K,
|
||
Tada H,
|
||
Ogura M,
|
||
Ishigaki Y,
|
||
Yamashita S,
|
||
Harada-Shiba M;
|
||
Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2024 Jul 1;31(7):1005-1023.
|
||
Epub 2024 May 3
|
||
doi: 10.5551/jat.RV22018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38710625" target="_blank">38710625</a><a href="/pmc/articles/PMC11224688" target="_blank" class="PubMedFree">Free PMC Article</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/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/6806887">Apolipoprotein disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assmann G,
|
||
Menzel HJ</span><br />
|
||
<span class="medgenPMjournal">Ric Clin Lab</span>
|
||
1982 Jan-Mar;12(1):63-81.
|
||
doi: 10.1007/BF02909310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6806887" target="_blank">6806887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5334379">The malabsorption syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerrard JW,
|
||
Lubos MC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1967 Feb;14(1):73-91.
|
||
doi: 10.1016/s0031-3955(16)31944-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5334379" target="_blank">5334379</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%201%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 (82)</a></div><h3 class="subhead">Therapy</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/29620515">Progress in the Diagnosis and Management of Chorea-acanthocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
|
||
Liu ZY,
|
||
Wan XH,
|
||
Guo Y</span><br />
|
||
<span class="medgenPMjournal">Chin Med Sci J</span>
|
||
2018 Mar 30;33(1):53-59.
|
||
doi: 10.24920/21802.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29620515" target="_blank">29620515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2157450">Metabolic studies on the hypolipidaemic effect of guar gum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner PR,
|
||
Tuomilehto J,
|
||
Happonen P,
|
||
La Ville AE,
|
||
Shaikh M,
|
||
Lewis B</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
1990 Mar;81(2):145-50.
|
||
doi: 10.1016/0021-9150(90)90021-a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2157450" target="_blank">2157450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6130255">Vitamin E and neurological function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muller DP,
|
||
Lloyd JK,
|
||
Wolff OH</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1983 Jan 29;1(8318):225-8.
|
||
doi: 10.1016/s0140-6736(83)92598-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6130255" target="_blank">6130255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7350037">Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Illingworth DR,
|
||
Connor WE,
|
||
Lin DS,
|
||
Diliberti J</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
1980 Jan;78(1):68-75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7350037" target="_blank">7350037</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%201%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 (28)</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 />
|
||
<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/1454832">Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linton MF,
|
||
Pierotti V,
|
||
Young SG</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1992 Dec 1;89(23):11431-5.
|
||
doi: 10.1073/pnas.89.23.11431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1454832" target="_blank">1454832</a><a href="/pmc/articles/PMC50565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%201%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 (38)</a></div><h3 class="subhead">Clinical prediction guides</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/33207932">Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rimbert A,
|
||
Vanhoye X,
|
||
Coulibaly D,
|
||
Marrec M,
|
||
Pichelin M,
|
||
Charrière S,
|
||
Peretti N,
|
||
Valéro R,
|
||
Wargny M,
|
||
Carrié A,
|
||
Lindenbaum P,
|
||
Deleuze JF,
|
||
Genin E,
|
||
Redon R,
|
||
Rollat-Farnier PA,
|
||
Goxe D,
|
||
Degraef G,
|
||
Marmontel O,
|
||
Divry E,
|
||
Bigot-Corbel E,
|
||
Moulin P,
|
||
Cariou B,
|
||
Di Filippo M</span><br />
|
||
<span class="medgenPMjournal">Arterioscler Thromb Vasc Biol</span>
|
||
2021 Jan;41(1):e63-e71.
|
||
Epub 2020 Nov 19
|
||
doi: 10.1161/ATVBAHA.120.315491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33207932" target="_blank">33207932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10856714">Progress towards understanding the role of microsomal triglyceride transfer protein in apolipoprotein-B lipoprotein assembly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordon DA,
|
||
Jamil H</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2000 Jun 26;1486(1):72-83.
|
||
doi: 10.1016/s1388-1981(00)00049-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10856714" target="_blank">10856714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1454832">Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Linton MF,
|
||
Pierotti V,
|
||
Young SG</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1992 Dec 1;89(23):11431-5.
|
||
doi: 10.1073/pnas.89.23.11431.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1454832" target="_blank">1454832</a><a href="/pmc/articles/PMC50565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6130255">Vitamin E and neurological function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muller DP,
|
||
Lloyd JK,
|
||
Wolff OH</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1983 Jan 29;1(8318):225-8.
|
||
doi: 10.1016/s0140-6736(83)92598-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6130255" target="_blank">6130255</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%201%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 (66)</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/31111608">Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lima Pessoa E,
|
||
Costa Vilella Dos Reis M,
|
||
Sayuri Yamamoto T,
|
||
Ribeiro Neto M,
|
||
Ferraro O,
|
||
Alves MJ,
|
||
Guedes Coelho Lopes R</span><br />
|
||
<span class="medgenPMjournal">Breast J</span>
|
||
2019 Jul;25(4):763-765.
|
||
Epub 2019 May 20
|
||
doi: 10.1111/tbj.13341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31111608" target="_blank">31111608</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hypobetalipoproteinemia%201%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>
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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><li><a href="/gtr/tests?term=C4551990%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551990%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551990%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551990%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551990%5bDISCUI%5d" target="_blank">See all (23)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615558" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20hypobetalipoproteinemia%201" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22familial%20hypobetalipoproteinemia%201%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=107730" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=338[geneid]" target="_blank">View APOB variations in ClinVar</a></li><li><a href="/nuccore/226442987" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=615558" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/hypobetalipoproteinemia_familial_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20hypobetalipoproteinemia%201" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2876/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/33983694" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca721db15b832ebc32495f">Familial hypobetalipoproteinemia 1</a>
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