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<meta name="keywords" content="C0221032, beradinelli-seip syndrome, berardinelli seip congenital lipodystrophy, berardinelli seip syndrome, berardinelli's syndrome, berardinelli-seip congenital lipodystrophy, berardinelli-seip syndrome, brunzell syndrome (with bone cysts), congenital generalised lipodystrophy, congenital generalised lipodystrophy (disease), congenital generalized lipodystrophies, congenital generalized lipodystrophy, congenital generalized lipodystrophy (disease), congenital lipodystrophy, berardinelli-seip, congenital total lipodystrophy, disease or syndrome, familial generalised lipodystrophy, familial generalized lipodystrophy, finding, generalized lipodystrophies, generalized lipodystrophies, congenital, generalized lipodystrophy, generalized lipodystrophy, congenital, hereditary generalised lipodystrophy, hereditary generalized lipodystrophy, lawrence syndrome, lawrence-seip syndrome, lipoatrophic diabetes, lipoatrophic diabetes mellitus, lipodystrophies, congenital generalized, lipodystrophies, generalized, lipodystrophies, total, lipodystrophy, berardinelli-seip congenital, lipodystrophy, congenital generalised, lipodystrophy, congenital generalized, lipodystrophy, generalized, lipodystrophy, total, seip's syndrome, syndrome, berardinelli-seip, syndrome, brunzell (with bone cysts), total lipoatrophy, total lipodystrophies, total lipodystrophy, 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="Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=67438
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ConceptID=C0221032
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital generalized lipodystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67438</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:">C0221032</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Congenital generalized lipodystrophy (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Lawrence syndrome (86907008); Lipoatrophic diabetes mellitus (284449005); Total lipoatrophy (284449005); Berardinelli-Seip congenital lipodystrophy (284449005); Congenital generalized lipodystrophy (284449005); Beradinelli-Seip syndrome (284449005); Berardinelli's syndrome (284449005); Lawrence-Seip syndrome (284449005); Seip's syndrome (284449005); Congenital total lipodystrophy (284449005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/284119">CAVIN1</a>, <a target="_blank" href="/gene/26580">BSCL2</a>, <a target="_blank" href="/gene/10555">AGPAT2</a>, <a target="_blank" href="/gene/857">CAV1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009059">HP:0009059</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0006536" target="_blank">MONDO:0006536</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS608594" target="_blank">PS608594</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1212" target="_blank">Berardinelli-Seip Congenital Lipodystrophy</a></div><div>Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality. [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/NBK1212#bscl.Summary" target="NBK1212">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Diagnosis" target="NBK1212">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Clinical_Characteristics" target="NBK1212">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Genetically_Related_Allelic_Disorde" target="NBK1212">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Differential_Diagnosis" target="NBK1212">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Management" target="NBK1212">Management</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Genetic_Counseling" target="NBK1212">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Resources" target="NBK1212">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Molecular_Genetics" target="NBK1212">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.Chapter_Notes" target="NBK1212">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1212#bscl.References" target="NBK1212">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Lionel Van Maldergem <a href="/books/NBK1212" target="NBK1212" title="NCBI Bookshelf: Berardinelli-Seip Congenital Lipodystrophy">view full author information</a></div></div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.<br /><br />The signs and symptoms of congenital generalized lipodystrophy are usually apparent from birth or early childhood. One of the most common features is insulin resistance, a condition in which the body's tissues are unable to recognize insulin, a hormone that normally helps to regulate levels of blood glucose, also called blood sugar. Insulin resistance may develop into a more serious disease called diabetes mellitus. Most affected individuals also have high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia), which can lead to the development of small yellow deposits of fat under the skin called eruptive xanthomas and inflammation of the pancreas (pancreatitis). Additionally, congenital generalized lipodystrophy causes an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly) and liver failure. Some affected individuals develop a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death.<br /><br />Researchers have described four types of congenital generalized lipodystrophy, which are distinguished by their genetic cause. The types also have some differences in their typical signs and symptoms. For example, in addition to the features described above, some people with congenital generalized lipodystrophy type 1 develop cysts in the long bones of the arms and legs after puberty. Type 2 can be associated with intellectual disability, which is usually mild to moderate. Type 3 appears to cause poor growth and short stature, along with other health problems. Type 4 is associated with muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe arrhythmia that can lead to sudden death.<br /><br />People with congenital generalized lipodystrophy have a distinctive physical appearance. They appear very muscular because they have an almost complete absence of adipose tissue and an overgrowth of muscle tissue. A lack of adipose tissue under the skin also makes the veins appear prominent. Affected individuals tend to have prominent bones above the eyes (orbital ridges), large hands and feet, and a prominent belly button (umbilicus). Affected females may have an enlarged clitoris (clitoromegaly), an increased amount of body hair (hirsutism), irregular menstrual periods, and multiple cysts on the ovaries, which may be related to hormonal changes. Many people with this disorder develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. Acanthosis nigricans causes the skin in body folds and creases to become thick, dark, and velvety. <a target="_blank" href="https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy">https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy</a></div></div>
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN262437[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=945467">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1212/" ref="ncbi_uid=945467">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=945467" ref="ncbi_uid=945467">V</a></span></span><span class="TLline"><a href="/medgen/945467" ref="tree=GTR&ncbi_uid=945467&link_uid=945467" title="View MedGen record for 'Berardinelli-Seip congenital lipodystrophy'">Berardinelli-Seip congenital lipodystrophy</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0221032[DISCUI]&test_type=Clinical" ref="ncbi_uid=67438">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0221032[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=67438">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1212/" ref="ncbi_uid=67438">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=67438" ref="ncbi_uid=67438">V</a></span></span><span class="TLline">Congenital generalized lipodystrophy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1720862[DISCUI]&test_type=Clinical" ref="ncbi_uid=318592">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318592" target="_blank" href="/omim/603100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1212/" ref="ncbi_uid=318592">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318592" ref="ncbi_uid=318592">V</a></span></span><span class="TLline"><a href="/medgen/318592" ref="tree=GTR&ncbi_uid=318592&link_uid=318592" title="View MedGen record for 'Congenital generalized lipodystrophy type 1'">Congenital generalized lipodystrophy type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1720863[DISCUI]&test_type=Clinical" ref="ncbi_uid=318593">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318593" target="_blank" href="/omim/269700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1212/" ref="ncbi_uid=318593">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=318593" ref="ncbi_uid=318593">V</a></span></span><span class="TLline"><a href="/medgen/318593" ref="tree=GTR&ncbi_uid=318593&link_uid=318593" title="View MedGen record for 'Congenital generalized lipodystrophy type 2'">Congenital generalized lipodystrophy type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675861[DISCUI]&test_type=Clinical" ref="ncbi_uid=436541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436541" target="_blank" href="/omim/601047">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1212/" ref="ncbi_uid=436541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436541" ref="ncbi_uid=436541">V</a></span></span><span class="TLline"><a href="/medgen/436541" ref="tree=GTR&ncbi_uid=436541&link_uid=436541" title="View MedGen record for 'Congenital generalized lipodystrophy type 3'">Congenital generalized lipodystrophy type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750069[DISCUI]&test_type=Clinical" ref="ncbi_uid=412871">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=412871" target="_blank" href="/omim/603198">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1212/" ref="ncbi_uid=412871">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=412871" ref="ncbi_uid=412871">V</a></span></span><span class="TLline"><a href="/medgen/412871" ref="tree=GTR&ncbi_uid=412871&link_uid=412871" title="View MedGen record for 'Congenital generalized lipodystrophy type 4'">Congenital generalized lipodystrophy type 4</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3807567[DISCUI]&test_type=Clinical" ref="ncbi_uid=813897">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=813897" target="_blank" href="/omim/601047">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=813897" ref="ncbi_uid=813897">V</a></span></span><span class="TLline"><a href="/medgen/813897" ref="tree=GTR&ncbi_uid=813897&link_uid=813897" title="View MedGen record for 'Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome'">Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1383706" ref="tree=MeSH" title="MedGen record for Hereditary lipodystrophy">Hereditary lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/945467" ref="tree=MeSH" title="MedGen record for Berardinelli-Seip congenital lipodystrophy">Berardinelli-Seip congenital lipodystrophy</a></span><ul><li><span class="matched_ds">Congenital generalized lipodystrophy</span><ul><li><span class="TLline"><a href="/medgen/318592" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 1">Congenital generalized lipodystrophy type 1</a></span></li><li><span class="TLline"><a href="/medgen/318593" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 2">Congenital generalized lipodystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/436541" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 3">Congenital generalized lipodystrophy type 3</a></span></li><li><span class="TLline"><a href="/medgen/412871" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 4">Congenital generalized lipodystrophy type 4</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_334166"><div><strong>Lipodystrophy-intellectual disability-deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334166</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.">C1842465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334166">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy-intellectual disability-deafness syndrome</a></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/38992753">Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patni N,
|
||
Chard C,
|
||
Araújo-Vilar D,
|
||
Phillips H,
|
||
Magee DA,
|
||
Akinci B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 Jul 11;19(1):263.
|
||
doi: 10.1186/s13023-024-03245-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38992753" target="_blank">38992753</a><a href="/pmc/articles/PMC11241872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27967300">Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N,
|
||
Asi N,
|
||
Farah W,
|
||
Almasri J,
|
||
Barrionuevo P,
|
||
Alsawas M,
|
||
Wang Z,
|
||
Haymond MW,
|
||
Brown RJ,
|
||
Murad MH</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 Feb 1;102(2):363-374.
|
||
doi: 10.1210/jc.2016-2271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27967300" target="_blank">27967300</a><a href="/pmc/articles/PMC6283440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27189019">Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jéru I,
|
||
Vatier C,
|
||
Araujo-Vilar D,
|
||
Vigouroux C,
|
||
Lascols O</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2016 Nov;24(11)
|
||
Epub 2016 May 18
|
||
doi: 10.1038/ejhg.2016.53.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27189019" target="_blank">27189019</a><a href="/pmc/articles/PMC5110052" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20generalized%20lipodystrophy%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 (4)</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/38234231">Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akinci G,
|
||
Alyaarubi S,
|
||
Patni N,
|
||
Alhashmi N,
|
||
Al-Shidhani A,
|
||
Prodam F,
|
||
Gagne N,
|
||
Babalola F,
|
||
Al Senani A,
|
||
Muniraj K,
|
||
Elsayed SM,
|
||
Beghini M,
|
||
Saydam BO,
|
||
Allawati M,
|
||
Vaishnav MS,
|
||
Can E,
|
||
Simsir IY,
|
||
Sorkina E,
|
||
Dursun F,
|
||
Kamrath C,
|
||
Cavdar U,
|
||
Chakraborty PP,
|
||
Dogan OA,
|
||
Al Hosin A,
|
||
Al Maimani A,
|
||
Comunoglu N,
|
||
Hamed A,
|
||
Huseinbegovic T,
|
||
Scherer T,
|
||
Curtis J,
|
||
Brown RJ,
|
||
Topaloglu H,
|
||
Simha V,
|
||
Wabitsch M,
|
||
Tuysuz B,
|
||
Oral EA,
|
||
Akinci B,
|
||
Garg A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Jun;194(6):e63533.
|
||
Epub 2024 Jan 17
|
||
doi: 10.1002/ajmg.a.63533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38234231" target="_blank">38234231</a><a href="/pmc/articles/PMC11060913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38034001">Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Pombo A,
|
||
Sánchez-Iglesias S,
|
||
Castro-Pais AI,
|
||
Ginzo-Villamayor MJ,
|
||
Cobelo-Gómez S,
|
||
Prado-Moraña T,
|
||
Díaz-López EJ,
|
||
Casanueva FF,
|
||
Loidi L,
|
||
Araújo-Vilar D</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1250203.
|
||
Epub 2023 Nov 16
|
||
doi: 10.3389/fendo.2023.1250203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38034001" target="_blank">38034001</a><a href="/pmc/articles/PMC10687442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35821558">Lipodystrophy for the Diabetologist-What to Look For.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patni N,
|
||
Garg A</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2022 Sep;22(9):461-470.
|
||
Epub 2022 Jul 11
|
||
doi: 10.1007/s11892-022-01485-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35821558" target="_blank">35821558</a><a href="/pmc/articles/PMC10704567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34562560">Generalized lipoatrophy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sorkina E,
|
||
Chichkova V</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2021 Nov;50(3):104075.
|
||
Epub 2021 Sep 22
|
||
doi: 10.1016/j.lpm.2021.104075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34562560" target="_blank">34562560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27189019">Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jéru I,
|
||
Vatier C,
|
||
Araujo-Vilar D,
|
||
Vigouroux C,
|
||
Lascols O</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2016 Nov;24(11)
|
||
Epub 2016 May 18
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doi: 10.1038/ejhg.2016.53.
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<span class="bold">PMID: </span><a href="/pubmed/27189019" target="_blank">27189019</a><a href="/pmc/articles/PMC5110052" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%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 (77)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38871503">Generalized lipodystrophies: Clinical characterization and physiopathology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prieur X</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/35821558">Lipodystrophy for the Diabetologist-What to Look For.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Patni N,
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<div class="nl"><a target="_blank" href="/pubmed/34562560">Generalized lipoatrophy syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sorkina E,
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<span class="bold">PMID: </span><a href="/pubmed/34562560" target="_blank">34562560</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35345194">Rare case of congenital generalized lipodystrophy type 1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shyam Sundar CM,
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<div class="nl"><a target="_blank" href="/pubmed/27189019">Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jéru I,
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<span class="bold">PMID: </span><a href="/pubmed/27189019" target="_blank">27189019</a><a href="/pmc/articles/PMC5110052" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%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 (153)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38034001">Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Pombo A,
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Sánchez-Iglesias S,
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Ginzo-Villamayor MJ,
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Cobelo-Gómez S,
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Prado-Moraña T,
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Casanueva FF,
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<span class="bold">PMID: </span><a href="/pubmed/38034001" target="_blank">38034001</a><a href="/pmc/articles/PMC10687442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34130976">Course of lipaemia retinalis in acquired generalised lipodystrophy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29478747">Congenital generalized lipodystrophy in Taiwan.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hsu RH,
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Lin WD,
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Chao MC,
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Hsiao HP,
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Ke YY,
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Lau BH,
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<span class="bold">PMID: </span><a href="/pubmed/29478747" target="_blank">29478747</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26391816">Berardinelli-Seip syndrome in peritoneal dialysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bande-Fernández JJ,
|
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García-Castro R,
|
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Sánchez-Alvarez JE,
|
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Rodríguez-Suárez C,
|
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Coronel-Aguilar D,
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Hidalgo C,
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Istanbuli B,
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Merino-Bueno C,
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Del Rio-García L</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/8783773">Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group.</a></div>
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Trygstad O,
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Van Maldergem L,
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Magré J,
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<div class="nl"><a target="_blank" href="/pubmed/38034001">Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fernández-Pombo A,
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Sánchez-Iglesias S,
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Castro-Pais AI,
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Ginzo-Villamayor MJ,
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Cobelo-Gómez S,
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Prado-Moraña T,
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<div class="nl"><a target="_blank" href="/pubmed/27967300">Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N,
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Asi N,
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Farah W,
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Almasri J,
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Barrionuevo P,
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Alsawas M,
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Wang Z,
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Haymond MW,
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Brown RJ,
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8783773">Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gedde-Dahl T Jr,
|
||
Trygstad O,
|
||
Van Maldergem L,
|
||
Magré J,
|
||
van der Hagen CB,
|
||
Olaisen B,
|
||
Stenersen M,
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Mevåg B</span><br />
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<span class="medgenPMjournal">Acta Paediatr Suppl</span>
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1996 Jun;413:52-8.
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doi: 10.1111/j.1651-2227.1996.tb14266.x.
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<span class="bold">PMID: </span><a href="/pubmed/8783773" target="_blank">8783773</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%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 (85)</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/27967300">Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta N,
|
||
Asi N,
|
||
Farah W,
|
||
Almasri J,
|
||
Barrionuevo P,
|
||
Alsawas M,
|
||
Wang Z,
|
||
Haymond MW,
|
||
Brown RJ,
|
||
Murad MH</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2017 Feb 1;102(2):363-374.
|
||
doi: 10.1210/jc.2016-2271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27967300" target="_blank">27967300</a><a href="/pmc/articles/PMC6283440" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21265979">Growth hormone axis treatments for HIV-associated lipodystrophy: a systematic review of placebo-controlled trials.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sivakumar T,
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Mechanic O,
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Fehmie DA,
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Paul B</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/21265979" target="_blank">21265979</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0221032%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0221032%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
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