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<meta name="keywords" content="C2675861, berardinelli-seip congenital lipodystrophy type 3, berardinelli-seip congenital lipodystrophy, type 3, bscl3, cav1, cav1 congenital generalised lipodystrophy (disease), cav1 congenital generalized lipodystrophy (disease), cgl3, congenital generalised lipodystrophy (disease) caused by mutation in cav1, congenital generalized lipodystrophy (disease) caused by mutation in cav1, congenital generalized lipodystrophy type 3, disease or syndrome, lipodystrophy, berardinelli-seip congenital, type 3, lipodystrophy, congenital generalized, type 3, type 3 berardinelli-seip congenital 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=436541
|
||
ConceptID=C2675861
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital generalized lipodystrophy type 3<span class="h1sub">(CGL3; BSCL3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436541</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:">C2675861</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3</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="CAV1 - ID: 857 - NCBI Gene" href="/gene/857" class="medgenPMinfo">CAV1</a> (7q31.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012923" target="_blank">MONDO:0012923</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612526" target="_blank">612526</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>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).
|
||
For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). <a target="_blank" href="http://www.omim.org/entry/612526">http://www.omim.org/entry/612526</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><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.<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 />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 />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy">https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy</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_115918"><div><strong>Primary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115918</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.">C0232939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally late or absent menarche in a female with normal secondary sexual characteristics.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115918">Feature record</a> | <a href="/medgen?term=%22Primary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115918%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9225"><div><strong>Hepatosplenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9225</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.">C0019214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simultaneous enlargement of the liver and spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9225">Feature record</a> | <a href="/medgen?term=%22Hepatosplenomegaly%22%5BClinical%20Features%5D%20OR%209225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_398225"><div><strong>Hepatic steatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398225</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.">C2711227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatosis is a term used to denote lipid accumulation within hepatocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398225">Feature record</a> | <a href="/medgen?term=%22Hepatic%20steatosis%22%5BClinical%20Features%5D%20OR%20398225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6111"><div><strong>Lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6111</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.">C0023787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Degenerative changes of the fat tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6111">Feature record</a> | <a href="/medgen?term=%22Lipodystrophy%22%5BClinical%20Features%5D%20OR%206111%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_387876"><div><strong>Reduced subcutaneous adipose tissue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387876</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.">C1857657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387876">Feature record</a> | <a href="/medgen?term=%22Reduced%20subcutaneous%20adipose%20tissue%22%5BClinical%20Features%5D%20OR%20387876%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1369615"><div><strong>Generalized lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1369615</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.">C4317112</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized degenerative changes of the fat tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1369615">Feature record</a> | <a href="/medgen?term=%22Generalized%20lipodystrophy%22%5BClinical%20Features%5D%20OR%201369615%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8350"><div><strong>Diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8350</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.">C0011849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A group of abnormalities characterized by hyperglycemia and glucose intolerance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8350">Feature record</a> | <a href="/medgen?term=%22Diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%208350%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5687"><div><strong>Hypercholesterolemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5687</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.">C0020443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of cholesterol in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5687">Feature record</a> | <a href="/medgen?term=%22Hypercholesterolemia%22%5BClinical%20Features%5D%20OR%205687%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5705"><div><strong>Hypocalcemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5705</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.">C0020598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally decreased calcium concentration in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5705">Feature record</a> | <a href="/medgen?term=%22Hypocalcemia%22%5BClinical%20Features%5D%20OR%205705%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43904"><div><strong>Insulin resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43904</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.">C0021655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43904">Feature record</a> | <a href="/medgen?term=%22Insulin%20resistance%22%5BClinical%20Features%5D%20OR%2043904%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_54"><div><strong>Acanthosis nigricans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>54</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.">C0000889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/54">Feature record</a> | <a href="/medgen?term=%22Acanthosis%20nigricans%22%5BClinical%20Features%5D%20OR%2054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42461"><div><strong>Hirsutism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42461</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.">C0019572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42461">Feature record</a> | <a href="/medgen?term=%22Hirsutism%22%5BClinical%20Features%5D%20OR%2042461%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypercholesterolemia</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_5705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypocalcemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Insulin resistance</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_398225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic steatosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatosplenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary amenorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_54" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acanthosis nigricans</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hirsutism</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1369615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized lipodystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_387876" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced subcutaneous adipose tissue</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLclosed"><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"><a href="/medgen/67438" ref="tree=GTR&ncbi_uid=67438&link_uid=67438" title="View MedGen record for 'Congenital generalized lipodystrophy'">Congenital generalized lipodystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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="matched_ds"><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">Congenital generalized lipodystrophy type 3</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="TLline"><a href="/medgen/67438" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy">Congenital generalized lipodystrophy</a></span><ul><li><span class="matched_ds">Congenital generalized lipodystrophy type 3</span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25367549">Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araujo-Vilar D,
|
||
Sánchez-Iglesias S,
|
||
Guillín-Amarelle C,
|
||
Castro A,
|
||
Lage M,
|
||
Pazos M,
|
||
Rial JM,
|
||
Blasco J,
|
||
Guillén-Navarro E,
|
||
Domingo-Jiménez R,
|
||
del Campo MR,
|
||
González-Méndez B,
|
||
Casanueva FF</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2015 May;49(1):139-47.
|
||
Epub 2014 Nov 4
|
||
doi: 10.1007/s12020-014-0450-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25367549" target="_blank">25367549</a><a href="/pmc/articles/PMC4412649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16409151">Genetic basis of lipodystrophies and management of metabolic complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agarwal AK,
|
||
Garg A</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2006;57:297-311.
|
||
doi: 10.1146/annurev.med.57.022605.114424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16409151" target="_blank">16409151</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20generalized%20lipodystrophy%20type%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36946378">Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildirim Simsir I,
|
||
Tuysuz B,
|
||
Ozbek MN,
|
||
Tanrikulu S,
|
||
Celik Guler M,
|
||
Karhan AN,
|
||
Denkboy Ongen Y,
|
||
Gunes N,
|
||
Soyaltin UE,
|
||
Altay C,
|
||
Nur B,
|
||
Ozalkak S,
|
||
Akgun Dogan O,
|
||
Dursun F,
|
||
Pekkolay Z,
|
||
Eren MA,
|
||
Usta Y,
|
||
Ozisik S,
|
||
Ozgen Saydam B,
|
||
Adiyaman SC,
|
||
Unal MC,
|
||
Gungor Semiz G,
|
||
Turan I,
|
||
Eren E,
|
||
Kayserili H,
|
||
Jeru I,
|
||
Vigouroux C,
|
||
Atik T,
|
||
Onay H,
|
||
Ozen S,
|
||
Arioglu Oral E,
|
||
Akinci B</span><br />
|
||
<span class="medgenPMjournal">Diabetes Obes Metab</span>
|
||
2023 Jul;25(7):1950-1963.
|
||
Epub 2023 Apr 11
|
||
doi: 10.1111/dom.15061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36946378" target="_blank">36946378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35405042">Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adiyaman SC,
|
||
V Schnurbein J,
|
||
De Laffolie J,
|
||
Hahn A,
|
||
Siebert R,
|
||
Wabitsch M,
|
||
Kamrath C</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 Jul 26;35(7):946-952.
|
||
Epub 2022 Apr 11
|
||
doi: 10.1515/jpem-2022-0022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35405042" target="_blank">35405042</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/25367549">Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araujo-Vilar D,
|
||
Sánchez-Iglesias S,
|
||
Guillín-Amarelle C,
|
||
Castro A,
|
||
Lage M,
|
||
Pazos M,
|
||
Rial JM,
|
||
Blasco J,
|
||
Guillén-Navarro E,
|
||
Domingo-Jiménez R,
|
||
del Campo MR,
|
||
González-Méndez B,
|
||
Casanueva FF</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2015 May;49(1):139-47.
|
||
Epub 2014 Nov 4
|
||
doi: 10.1007/s12020-014-0450-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25367549" target="_blank">25367549</a><a href="/pmc/articles/PMC4412649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20551664">Human lipodystrophies: genetic and acquired diseases of adipose tissue.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Capeau J,
|
||
Magré J,
|
||
Caron-Debarle M,
|
||
Lagathu C,
|
||
Antoine B,
|
||
Béréziat VR,
|
||
Lascols O,
|
||
Bastard JP,
|
||
Vigouroux C</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2010;19:1-20.
|
||
Epub 2010 Jun 15
|
||
doi: 10.1159/000316893.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20551664" target="_blank">20551664</a><a href="/pmc/articles/PMC3892722" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%20type%203%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39550450">A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajan R,
|
||
Chapla A,
|
||
Johnson J,
|
||
Varghese D,
|
||
Asha HS,
|
||
Jebasingh F,
|
||
Kapoor N,
|
||
Paul TV,
|
||
Thomas N</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Nov 16;14(1):28277.
|
||
doi: 10.1038/s41598-024-79516-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39550450" target="_blank">39550450</a><a href="/pmc/articles/PMC11569162" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36946378">Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildirim Simsir I,
|
||
Tuysuz B,
|
||
Ozbek MN,
|
||
Tanrikulu S,
|
||
Celik Guler M,
|
||
Karhan AN,
|
||
Denkboy Ongen Y,
|
||
Gunes N,
|
||
Soyaltin UE,
|
||
Altay C,
|
||
Nur B,
|
||
Ozalkak S,
|
||
Akgun Dogan O,
|
||
Dursun F,
|
||
Pekkolay Z,
|
||
Eren MA,
|
||
Usta Y,
|
||
Ozisik S,
|
||
Ozgen Saydam B,
|
||
Adiyaman SC,
|
||
Unal MC,
|
||
Gungor Semiz G,
|
||
Turan I,
|
||
Eren E,
|
||
Kayserili H,
|
||
Jeru I,
|
||
Vigouroux C,
|
||
Atik T,
|
||
Onay H,
|
||
Ozen S,
|
||
Arioglu Oral E,
|
||
Akinci B</span><br />
|
||
<span class="medgenPMjournal">Diabetes Obes Metab</span>
|
||
2023 Jul;25(7):1950-1963.
|
||
Epub 2023 Apr 11
|
||
doi: 10.1111/dom.15061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36946378" target="_blank">36946378</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35857714">Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costa S,
|
||
Sampaio L,
|
||
Berta Sousa A,
|
||
Xing C,
|
||
Agarwal AK,
|
||
Garg A</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Aug 18;107(9):2433-2438.
|
||
doi: 10.1210/clinem/dgac406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35857714" target="_blank">35857714</a><a href="/pmc/articles/PMC9387702" 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/31416577">The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Craveiro Sarmento AS,
|
||
Ferreira LC,
|
||
Lima JG,
|
||
de Azevedo Medeiros LB,
|
||
Barbosa Cunha PT,
|
||
Agnez-Lima LF,
|
||
Galvão Ururahy MA,
|
||
de Melo Campos JTA</span><br />
|
||
<span class="medgenPMjournal">Mutat Res Rev Mutat Res</span>
|
||
2019 Jul-Sep;781:30-52.
|
||
Epub 2019 Mar 23
|
||
doi: 10.1016/j.mrrev.2019.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31416577" target="_blank">31416577</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%20type%203%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 (28)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35405042">Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adiyaman SC,
|
||
V Schnurbein J,
|
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De Laffolie J,
|
||
Hahn A,
|
||
Siebert R,
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Wabitsch M,
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Kamrath C</span><br />
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
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2022 Jul 26;35(7):946-952.
|
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Epub 2022 Apr 11
|
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doi: 10.1515/jpem-2022-0022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35405042" target="_blank">35405042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35137278">Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brener A,
|
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Zeitlin L,
|
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Wilnai Y,
|
||
Birk OS,
|
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Rosenfeld T,
|
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Chorna E,
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Lebenthal Y</span><br />
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<span class="medgenPMjournal">Acta Diabetol</span>
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2022 May;59(5):711-719.
|
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Epub 2022 Feb 8
|
||
doi: 10.1007/s00592-022-01854-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35137278" target="_blank">35137278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25367549">Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araujo-Vilar D,
|
||
Sánchez-Iglesias S,
|
||
Guillín-Amarelle C,
|
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Castro A,
|
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Lage M,
|
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Pazos M,
|
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Rial JM,
|
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Blasco J,
|
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Guillén-Navarro E,
|
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Domingo-Jiménez R,
|
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del Campo MR,
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González-Méndez B,
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Casanueva FF</span><br />
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<span class="medgenPMjournal">Endocrine</span>
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2015 May;49(1):139-47.
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Epub 2014 Nov 4
|
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doi: 10.1007/s12020-014-0450-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25367549" target="_blank">25367549</a><a href="/pmc/articles/PMC4412649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940115">Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park JY,
|
||
Chong AY,
|
||
Cochran EK,
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Kleiner DE,
|
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Haller MJ,
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Schatz DA,
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Gorden P</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2008 Jan;93(1):26-31.
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Epub 2007 Oct 16
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doi: 10.1210/jc.2007-1856.
|
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<span class="bold">PMID: </span><a href="/pubmed/17940115" target="_blank">17940115</a><a href="/pmc/articles/PMC2729152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/203464">Congenital generalized lipodystrophy with insulin-resistant diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kodama S,
|
||
Kasuga M,
|
||
Seki A,
|
||
Ninomiya M,
|
||
Sakurai T,
|
||
Morishita Y,
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Matsuo M,
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Matsuo T</span><br />
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<span class="medgenPMjournal">Eur J Pediatr</span>
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1978 Jan 17;127(2):111-9.
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doi: 10.1007/BF00445766.
|
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<span class="bold">PMID: </span><a href="/pubmed/203464" target="_blank">203464</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%20type%203%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27868354">High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Purizaca-Rosillo N,
|
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Mori T,
|
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Benites-Cóndor Y,
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Hisama FM,
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Martin GM,
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Oshima J</span><br />
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<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Feb;173(2):471-478.
|
||
Epub 2016 Nov 21
|
||
doi: 10.1002/ajmg.a.38053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27868354" target="_blank">27868354</a><a href="/pmc/articles/PMC5247312" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27632409">Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opri R,
|
||
Fabrizi GM,
|
||
Cantalupo G,
|
||
Ferrarini M,
|
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Simonati A,
|
||
Dalla Bernardina B,
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Darra F</span><br />
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<span class="medgenPMjournal">Seizure</span>
|
||
2016 Nov;42:1-6.
|
||
Epub 2016 Sep 5
|
||
doi: 10.1016/j.seizure.2016.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27632409" target="_blank">27632409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25367549">Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araujo-Vilar D,
|
||
Sánchez-Iglesias S,
|
||
Guillín-Amarelle C,
|
||
Castro A,
|
||
Lage M,
|
||
Pazos M,
|
||
Rial JM,
|
||
Blasco J,
|
||
Guillén-Navarro E,
|
||
Domingo-Jiménez R,
|
||
del Campo MR,
|
||
González-Méndez B,
|
||
Casanueva FF</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2015 May;49(1):139-47.
|
||
Epub 2014 Nov 4
|
||
doi: 10.1007/s12020-014-0450-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25367549" target="_blank">25367549</a><a href="/pmc/articles/PMC4412649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20097706">Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antuna-Puente B,
|
||
Boutet E,
|
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Vigouroux C,
|
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Lascols O,
|
||
Slama L,
|
||
Caron-Debarle M,
|
||
Khallouf E,
|
||
Lévy-Marchal C,
|
||
Capeau J,
|
||
Bastard JP,
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||
Magré J</span><br />
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||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2010 Mar;95(3):1463-8.
|
||
Epub 2010 Jan 22
|
||
doi: 10.1210/jc.2009-1824.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20097706" target="_blank">20097706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17940115">Type 1 diabetes associated with acquired generalized lipodystrophy and insulin resistance: the effect of long-term leptin therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park JY,
|
||
Chong AY,
|
||
Cochran EK,
|
||
Kleiner DE,
|
||
Haller MJ,
|
||
Schatz DA,
|
||
Gorden P</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2008 Jan;93(1):26-31.
|
||
Epub 2007 Oct 16
|
||
doi: 10.1210/jc.2007-1856.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17940115" target="_blank">17940115</a><a href="/pmc/articles/PMC2729152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%20type%203%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37595266">Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okawa MC,
|
||
Tuska RM,
|
||
Lightbourne M,
|
||
Abel BS,
|
||
Walter M,
|
||
Dai Y,
|
||
Cochran E,
|
||
Brown RJ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2023 Dec 21;109(1):e96-e106.
|
||
doi: 10.1210/clinem/dgad491.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37595266" target="_blank">37595266</a><a href="/pmc/articles/PMC10735468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35405042">Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adiyaman SC,
|
||
V Schnurbein J,
|
||
De Laffolie J,
|
||
Hahn A,
|
||
Siebert R,
|
||
Wabitsch M,
|
||
Kamrath C</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2022 Jul 26;35(7):946-952.
|
||
Epub 2022 Apr 11
|
||
doi: 10.1515/jpem-2022-0022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35405042" target="_blank">35405042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19376819">Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faria CA,
|
||
Moraes RS,
|
||
Sobral-Filho DC,
|
||
Rego AG,
|
||
Baracho MF,
|
||
Egito ES,
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Brandão-Neto J</span><br />
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<span class="medgenPMjournal">Europace</span>
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2009 Jun;11(6):763-9.
|
||
Epub 2009 Apr 17
|
||
doi: 10.1093/europace/eup095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19376819" target="_blank">19376819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18640396">Energy balance in congenital generalized lipodystrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taleban S,
|
||
Carew HT,
|
||
Dichek HL,
|
||
Deeb SS,
|
||
Hollenback D,
|
||
Weigle DS,
|
||
Cummings DE,
|
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Brunzell JD</span><br />
|
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<span class="medgenPMjournal">Metabolism</span>
|
||
2008 Aug;57(8):1155-61.
|
||
doi: 10.1016/j.metabol.2008.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18640396" target="_blank">18640396</a><a href="/pmc/articles/PMC3259008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16409151">Genetic basis of lipodystrophies and management of metabolic complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agarwal AK,
|
||
Garg A</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2006;57:297-311.
|
||
doi: 10.1146/annurev.med.57.022605.114424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16409151" target="_blank">16409151</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20generalized%20lipodystrophy%20type%203%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 (17)</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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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2675861%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675861%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675861%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (34)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675861%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675861%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=612526" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20generalized%20lipodystrophy%20type%203" 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=(congenital%20generalized%20lipodystrophy%20type%203)%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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|
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601047" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=857[geneid]" target="_blank">View CAV1 variations in ClinVar</a></li><li><a href="/nuccore/237820664" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612526" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Lipodystrophy%2C+congenital+generalized%2C+type+3/8757" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/lipodystrophy_congenital_generalized_type_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20generalized%20lipodystrophy%20type%203" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13389/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=436541" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=436541" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3350f4a390645e6ee632">Congenital generalized lipodystrophy type 3</a>
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