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<meta name="keywords" content="C3887501, apld, apld, susceptibility to, barraquer-simons syndrome, finding, lipodystrophy, cephalothoracic type, lipodystrophy, partial, acquired, susceptibility, lipodystrophy, partial, acquired, susceptibility to, lipodystrophy, partial, progressive, lmnb2, 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="An inherited susceptibility or predisposition to developing acquired partial lipodystrophy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=854363
|
||
ConceptID=C3887501
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lipodystrophy, partial, acquired, susceptibility to<span class="h1sub">(APLD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854363</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:">C3887501</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>APLD; APLD, SUSCEPTIBILITY TO</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="LMNB2 - ID: 84823 - NCBI Gene" href="/gene/84823" class="medgenPMinfo">LMNB2</a> (19p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0100476" target="_blank">MONDO:0100476</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608709" target="_blank">608709</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An inherited susceptibility or predisposition to developing acquired partial lipodystrophy. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_5488"><div><strong>Hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5488</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.">C0018965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5488">Feature record</a> | <a href="/medgen?term=%22Hematuria%22%5BClinical%20Features%5D%20OR%205488%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10308"><div><strong>Nephrotic syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10308</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.">C0027726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10308">Feature record</a> | <a href="/medgen?term=%22Nephrotic%20syndrome%22%5BClinical%20Features%5D%20OR%2010308%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10836"><div><strong>Polycystic ovaries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10836</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.">C0032460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10836">Feature record</a> | <a href="/medgen?term=%22Polycystic%20ovaries%22%5BClinical%20Features%5D%20OR%2010836%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%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_331962"><div><strong>Loss of truncal subcutaneous adipose tissue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331962</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.">C1835384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331962">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20truncal%20subcutaneous%20adipose%20tissue%22%5BClinical%20Features%5D%20OR%20331962%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332468"><div><strong>Progressive loss of facial adipose tissue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332468</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.">C1837510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332468">Feature record</a> | <a href="/medgen?term=%22Progressive%20loss%20of%20facial%20adipose%20tissue%22%5BClinical%20Features%5D%20OR%20332468%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870169"><div><strong>Loss of subcutaneous adipose tissue from upper limbs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870169</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.">C4024602</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870169">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20subcutaneous%20adipose%20tissue%20from%20upper%20limbs%22%5BClinical%20Features%5D%20OR%20870169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9033"><div><strong>Mesangiocapillary glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9033</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.">C0017662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9033">Feature record</a> | <a href="/medgen?term=%22Mesangiocapillary%20glomerulonephritis%22%5BClinical%20Features%5D%20OR%209033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65998"><div><strong>Recurrent infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65998</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.">C0239998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65998">Feature record</a> | <a href="/medgen?term=%22Recurrent%20infections%22%5BClinical%20Features%5D%20OR%2065998%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332469"><div><strong>Decreased circulating complement C3 concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332469</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.">C1837512</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of the complement component C3 in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332469">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20complement%20C3%20concentration%22%5BClinical%20Features%5D%20OR%20332469%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_892402"><div><strong>Abnormal circulating lipid concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892402</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.">C4025650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any deviation from the normal concentration of a lipid in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892402">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20lipid%20concentration%22%5BClinical%20Features%5D%20OR%20892402%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_892402" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating lipid concentration</a></span></li><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></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></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_5488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephrotic syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic ovaries</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</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_332469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating complement C3 concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mesangiocapillary glomerulonephritis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65998" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent infections</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_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_870169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of subcutaneous adipose tissue from upper limbs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of truncal subcutaneous adipose tissue</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332468" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive loss of facial adipose tissue</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31982105">Lipodystrophic syndromes: From diagnosis to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sollier C,
|
||
Vatier C,
|
||
Capel E,
|
||
Lascols O,
|
||
Auclair M,
|
||
Janmaat S,
|
||
Fève B,
|
||
Jéru I,
|
||
Vigouroux C</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2020 Feb;81(1):51-60.
|
||
Epub 2019 Dec 16
|
||
doi: 10.1016/j.ando.2019.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31982105" target="_blank">31982105</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34547374">Autoimmunity in lipodystrophy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ceccarini G,
|
||
Magno S,
|
||
Gilio D,
|
||
Pelosini C,
|
||
Santini F</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2021 Nov;50(3):104073.
|
||
Epub 2021 Sep 20
|
||
doi: 10.1016/j.lpm.2021.104073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34547374" target="_blank">34547374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068950">Nephritic Factors: An Overview of Classification, Diagnostic Tools and Clinical Associations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corvillo F,
|
||
Okrój M,
|
||
Nozal P,
|
||
Melgosa M,
|
||
Sánchez-Corral P,
|
||
López-Trascasa M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:886.
|
||
Epub 2019 Apr 24
|
||
doi: 10.3389/fimmu.2019.00886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068950" target="_blank">31068950</a><a href="/pmc/articles/PMC6491685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17420663">Dense deposit disease: new insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walker PD</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2007 May;16(3):204-12.
|
||
doi: 10.1097/MNH.0b013e3280bdc0f4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17420663" target="_blank">17420663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11078466">Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vigouroux C,
|
||
Magré J,
|
||
Vantyghem MC,
|
||
Bourut C,
|
||
Lascols O,
|
||
Shackleton S,
|
||
Lloyd DJ,
|
||
Guerci B,
|
||
Padova G,
|
||
Valensi P,
|
||
Grimaldi A,
|
||
Piquemal R,
|
||
Touraine P,
|
||
Trembath RC,
|
||
Capeau J</span><br />
|
||
<span class="medgenPMjournal">Diabetes</span>
|
||
2000 Nov;49(11):1958-62.
|
||
doi: 10.2337/diabetes.49.11.1958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11078466" target="_blank">11078466</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31982105">Lipodystrophic syndromes: From diagnosis to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sollier C,
|
||
Vatier C,
|
||
Capel E,
|
||
Lascols O,
|
||
Auclair M,
|
||
Janmaat S,
|
||
Fève B,
|
||
Jéru I,
|
||
Vigouroux C</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2020 Feb;81(1):51-60.
|
||
Epub 2019 Dec 16
|
||
doi: 10.1016/j.ando.2019.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31982105" target="_blank">31982105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068950">Nephritic Factors: An Overview of Classification, Diagnostic Tools and Clinical Associations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corvillo F,
|
||
Okrój M,
|
||
Nozal P,
|
||
Melgosa M,
|
||
Sánchez-Corral P,
|
||
López-Trascasa M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:886.
|
||
Epub 2019 Apr 24
|
||
doi: 10.3389/fimmu.2019.00886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068950" target="_blank">31068950</a><a href="/pmc/articles/PMC6491685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30539576">Analysis of C3 Nephritic Factors by ELISA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skattum L</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2019;1901:177-182.
|
||
doi: 10.1007/978-1-4939-8949-2_13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30539576" target="_blank">30539576</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27631079">Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teboul-Coré S,
|
||
Rey-Jouvin C,
|
||
Miquel A,
|
||
Vatier C,
|
||
Capeau J,
|
||
Robert JJ,
|
||
Pham T,
|
||
Lascols O,
|
||
Berenbaum F,
|
||
Laredo JD,
|
||
Vigouroux C,
|
||
Sellam J</span><br />
|
||
<span class="medgenPMjournal">Skeletal Radiol</span>
|
||
2016 Nov;45(11):1495-506.
|
||
Epub 2016 Sep 8
|
||
doi: 10.1007/s00256-016-2457-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27631079" target="_blank">27631079</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to%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 (4)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34547374">Autoimmunity in lipodystrophy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ceccarini G,
|
||
Magno S,
|
||
Gilio D,
|
||
Pelosini C,
|
||
Santini F</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2021 Nov;50(3):104073.
|
||
Epub 2021 Sep 20
|
||
doi: 10.1016/j.lpm.2021.104073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34547374" target="_blank">34547374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17420663">Dense deposit disease: new insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walker PD</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Nephrol Hypertens</span>
|
||
2007 May;16(3):204-12.
|
||
doi: 10.1097/MNH.0b013e3280bdc0f4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17420663" target="_blank">17420663</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/129586">Membranoproliferative glomerulonephritis with partial lipodystrophy: discordant occurrence in identical twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reichel W,
|
||
Köbberling J,
|
||
Fischbach H,
|
||
Scheler F</span><br />
|
||
<span class="medgenPMjournal">Klin Wochenschr</span>
|
||
1976 Jan 15;54(2):75-81.
|
||
doi: 10.1007/BF01468772.
|
||
<span class="bold">PMID: </span><a href="/pubmed/129586" target="_blank">129586</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068950">Nephritic Factors: An Overview of Classification, Diagnostic Tools and Clinical Associations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corvillo F,
|
||
Okrój M,
|
||
Nozal P,
|
||
Melgosa M,
|
||
Sánchez-Corral P,
|
||
López-Trascasa M</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2019;10:886.
|
||
Epub 2019 Apr 24
|
||
doi: 10.3389/fimmu.2019.00886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068950" target="_blank">31068950</a><a href="/pmc/articles/PMC6491685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27631079">Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teboul-Coré S,
|
||
Rey-Jouvin C,
|
||
Miquel A,
|
||
Vatier C,
|
||
Capeau J,
|
||
Robert JJ,
|
||
Pham T,
|
||
Lascols O,
|
||
Berenbaum F,
|
||
Laredo JD,
|
||
Vigouroux C,
|
||
Sellam J</span><br />
|
||
<span class="medgenPMjournal">Skeletal Radiol</span>
|
||
2016 Nov;45(11):1495-506.
|
||
Epub 2016 Sep 8
|
||
doi: 10.1007/s00256-016-2457-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27631079" target="_blank">27631079</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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||
<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3887501%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3887501%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608709" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lipodystrophy,%20partial,%20acquired,%20susceptibility%20to" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Lipodystrophy%2C%20partial%2C%20acquired%2C%20susceptibility%20to%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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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=150341" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=84823[geneid]" target="_blank">View LMNB2 variations in ClinVar</a></li><li><a href="/nuccore/196114940" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=608709" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/lipodystrophy_partial_acquired" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lipodystrophy,%20partial,%20acquired,%20susceptibility%20to" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
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|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Lipodystrophy,%20partial,%20acquired,%20susceptibility%20to" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Lipodystrophy,%20partial,%20acquired,%20susceptibility%20to%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
</li>
|
||
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||
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||
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||
|
||
<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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||
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<div class="portlet_title">
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<h3>Related information</h3>
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||
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||
</div>
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<div class="portlet_content DiscoveryDbLinks">
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<ul>
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||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=854363" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=854363" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3887501[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3887501[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=854363" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=854363" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=854363" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=854363" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=854363" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
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<h3>Recent activity</h3>
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<div id="HTDisplay" class="">
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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||
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<li>
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||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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||
</li>
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</ul>
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