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<meta name="keywords" content="C0023787, disease or syndrome, dystrophy of fatty tissue, inability to make and keep healthy fat tissue, lipodsystrophic syndrome, lipodsystrophic syndromes, lipodystrophies, lipodystrophy, lipodystrophy (disease), 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="Degenerative changes of the fat tissue." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=6111
|
||
ConceptID=C0023787
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lipodystrophy</div></h1><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."><span class="highlight" style="background-color:">C0023787</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>Lipodystrophy (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Lipodystrophy (71325002); Dystrophy of fatty tissue (71325002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009125">HP:0009125</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0006573" target="_blank">MONDO:0006573</a></td></tr>
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</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_100">
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<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">Degenerative changes of the fat tissue. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023787[DISCUI]&test_type=Clinical" ref="ncbi_uid=6111">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=6111" ref="ncbi_uid=6111">V</a></span></span><span class="TLline">Lipodystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/871127" ref="tree=MeSH" title="MedGen record for Abnormality of connective tissue">Abnormality of connective tissue</a></span><ul><li><span class="TLline"><a href="/medgen/867166" ref="tree=MeSH" title="MedGen record for Abnormal adipose tissue morphology">Abnormal adipose tissue morphology</a></span><ul><li><span class="matched_ds">Lipodystrophy</span><ul><li><span class="TLline"><a href="/medgen/543499" ref="tree=MeSH" title="MedGen record for Acquired generalized lipodystrophy">Acquired generalized lipodystrophy</a></span></li><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="TLline"><a href="/medgen/318592" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 1">Congenital generalized lipodystrophy type 1</a></span></li><li><span class="TLline"><a href="/medgen/318593" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 2">Congenital generalized lipodystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/436541" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 3">Congenital generalized lipodystrophy type 3</a></span></li><li><span class="TLline"><a href="/medgen/412871" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 4">Congenital generalized lipodystrophy type 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124408" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy">Familial partial lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1810936" ref="tree=MeSH" title="MedGen record for AKT2-related familial partial lipodystrophy">AKT2-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1808090" ref="tree=MeSH" title="MedGen record for Autosomal semi-dominant severe lipodystrophic laminopathy">Autosomal semi-dominant severe lipodystrophic laminopathy</a></span></li><li><span class="TLline"><a href="/medgen/815270" ref="tree=MeSH" title="MedGen record for CIDEC-related familial partial lipodystrophy">CIDEC-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/354526" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy, Dunnigan type">Familial partial lipodystrophy, Dunnigan type</a></span></li><li><span class="TLline"><a href="/medgen/318591" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy, Kobberling type">Familial partial lipodystrophy, Kobberling type</a></span></li><li><span class="TLline"><a href="/medgen/863306" ref="tree=MeSH" title="MedGen record for LIPE-related familial partial lipodystrophy">LIPE-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1675945" ref="tree=MeSH" title="MedGen record for PLIN1-related familial partial lipodystrophy">PLIN1-related familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/328393" ref="tree=MeSH" title="MedGen record for PPARG-related familial partial lipodystrophy">PPARG-related familial partial lipodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1369615" ref="tree=MeSH" title="MedGen record for Generalized lipodystrophy">Generalized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/313244" ref="tree=MeSH" title="MedGen record for HIV Lipodystrophy">HIV Lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/210205" ref="tree=MeSH" title="MedGen record for HIV-Associated Lipodystrophy Syndrome">HIV-Associated Lipodystrophy Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/488959" ref="tree=MeSH" title="MedGen record for Lipoatrophy">Lipoatrophy</a></span></li><li><span class="TLline"><a href="/medgen/1385527" ref="tree=MeSH" title="MedGen record for Localized lipodystrophy">Localized lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/590539" ref="tree=MeSH" title="MedGen record for Centrifugal lipodystrophy">Centrifugal lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/698295" ref="tree=MeSH" title="MedGen record for Drug-induced localized lipodystrophy">Drug-induced localized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/633314" ref="tree=MeSH" title="MedGen record for Idiopathic localized lipodystrophy">Idiopathic localized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1678538" ref="tree=MeSH" title="MedGen record for Panniculitis and localized lipodystrophy">Panniculitis and localized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/687584" ref="tree=MeSH" title="MedGen record for Pressure-induced localized lipoatrophy">Pressure-induced localized lipoatrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1386287" ref="tree=MeSH" title="MedGen record for Partial lipodystrophy">Partial lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/66352" ref="tree=MeSH" title="MedGen record for Acquired partial lipodystrophy">Acquired partial lipodystrophy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_7349"><div><strong>Multiple symmetric lipomatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7349</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.">C0023804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple symmetric lipomatosis (MSL) is an autosomal recessive metabolic disorder characterized by the growth of unencapsulated masses of adipose tissue with predilection for the cervical and thoracic regions. The lipoma growth is striking and disfiguring, and growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Most, but not all, patients develop axonal peripheral neuropathy, which can appear at any age and varies in severity. Laboratory studies in MSL show low leptin (164160), low adiponectin (605441), variably increased lactate, and increased FGF21 (609436). Some patients may have insulin resistance. The disorder is exclusively associated with a particular MFN2 mutation (R707W; 608507.0013), usually in the homozygous state, but sometimes in the compound heterozygous state (Rocha et al., 2017; Capel et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7349">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82795"><div><strong>Cutis laxa with osteodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82795</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.">C0268355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82795">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162901"><div><strong>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162901</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.">C0796031</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162901">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_164210"><div><strong>Analbuminemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164210</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.">C0878666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Analbuminemia (ANALBA) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals have few clinical symptoms other than mild edema, hypotension, fatigue, and occasionally a peculiar lower body lipodystrophy (mainly in adult females). The most common biochemical finding is a gross hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. Analbuminemia often leads to fetal or neonatal death in sibs in families of analbuminemic individuals, which may explain the rarity of the trait (summary by Caridi et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_164212"><div><strong>SHORT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164212</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.">C0878684</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164212">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_230818"><div><strong>Barber-Say syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>230818</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.">C1319466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/230818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318591"><div><strong>Familial partial lipodystrophy, Kobberling type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318591</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.">C1720859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986). For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318591">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354526"><div><strong>Familial partial lipodystrophy, Dunnigan type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354526</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.">C1720860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_328393"><div><strong>PPARG-related familial partial lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>328393</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.">C1720861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy type 3 (FPLD3) is an autosomal dominant disorder characterized by marked loss of subcutaneous fat from the extremities. Calves and lower arms appear prominently muscular. Excess subcutaneous facial, neck, suprascapular, and abdominal fat may be present. Patients have insulin resistance, dyslipidemia, and hypertension, and develop type 2 diabetes (summary by Hegele et al., 2002, Agarwal and Garg, 2002). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/328393">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318592"><div><strong>Congenital generalized lipodystrophy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318592</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.">C1720862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318593"><div><strong>Congenital generalized lipodystrophy type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318593</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.">C1720863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318593">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336706"><div><strong>Membranoproliferative glomerulonephritis, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336706</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.">C1844501</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Habib et al. (1973) recognized 2 morphologic classes for the glomerular changes seen in patients with mesangiocapillary (membranoproliferative) glomerulonephritis (MPGN). Type I is characterized by double contour appearance of the capillary walls due to mesangial cell interposition, with nonargyrophilic subendothelial deposits which are finely granular on electron microscopy. Type II is characterized by linear dense deposits within the basement membrane and only rare double contours. These 2 types appear to be distinct with no conversion of one type to another on serial biopsy. Strife et al. (1977) described a third variety in which there are not only subendothelial deposits but also numerous subepithelial and intramembranous deposits, associated with replication of the lamina densa and frequently disruption of the whole basement membrane.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338622"><div><strong>Growth delay due to insulin-like growth factor I resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338622</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.">C1849157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338622">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340886"><div><strong>Lipase deficiency, combined</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340886</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.">C1855498</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340886">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348877"><div><strong>Stiff skin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348877</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.">C1861456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stiff skin syndrome (SSKS) is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010). Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348877">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436541"><div><strong>Congenital generalized lipodystrophy type 3</strong><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.">C2675861</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436541">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412871"><div><strong>Congenital generalized lipodystrophy type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412871</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.">C2750069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412871">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443955"><div><strong>ALG9 congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443955</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.">C2931006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443955">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462697"><div><strong>Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462697</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.">C3151347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group of patients (83%) with acquired partial lipodystrophy have low serum levels of complement component C3 due to the presence of C3 nephritic factor, an IgG antibody that causes continuous activation of the alternative complement pathway and consumption of serum C3. About 22% of patients with this acquired complement defect develop membranoproliferative glomerulonephritis. Some individuals may also show an increased risk of infection (Misra et al., 2004). Acquired partial lipodystrophy is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1) (summary by Misra et al., 2004). See 608709 for a subtype of APLD not associated with low complement C3 or renal disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811623"><div><strong>Mandibular hypoplasia-deafness-progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811623</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.">C3715192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811623">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813897"><div><strong>Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813897</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.">C3807567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815270"><div><strong>CIDEC-related familial partial lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815270</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.">C3808940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and gluteofemoral subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidaemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815270">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863306"><div><strong>LIPE-related familial partial lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863306</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.">C4014869</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy type 6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863306">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863898"><div><strong>Progeroid features-hepatocellular carcinoma predisposition syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863898</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.">C4015461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ruijs-Aalfs syndrome (RJALS) is a segmental progeroid disorder characterized by early onset hepatocellular carcinoma, genomic instability, and progeroid features (summary by Lessel et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863898">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934581"><div><strong>Infantile-onset periodic fever-panniculitis-dermatosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934581</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.">C4310614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome (AIPDSB) is an autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP; 123260), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934581">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648310"><div><strong>Proteasome-associated autoinflammatory syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648310</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.">C4746851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648310">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648456"><div><strong>Proteasome-associated autoinflammatory syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648456</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.">C4747850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-3 (PRAAS3) is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648456">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648482"><div><strong>Proteasome-associated autoinflammatory syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648482</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.">C4747989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648482">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675945"><div><strong>PLIN1-related familial partial lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675945</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.">C5191005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1708579"><div><strong>Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1708579</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.">C5394517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1708579">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1757618"><div><strong>Mandibuloacral dysplasia with type A lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1757618</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.">C5399785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1757618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1780242"><div><strong>Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780242</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.">C5543287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CIMDAG syndrome (CIMDAG) is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by Rodger et al., 2020 and Seu et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780242">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803642"><div><strong>Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803642</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.">C5676977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1803642">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1846436"><div><strong>Lipodystrophy, familial partial, type 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846436</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.">C5882744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy type 8 (FPLD8) is an autosomal dominant disorder characterized by abnormal distribution of subcutaneous adipose tissue. Affected individuals showed selective loss of subcutaneous adipose tissue from the limbs, resulting in a muscular appearance, beginning around 13 to 15 years of age. There is also abnormal accumulation of subcutaneous adipose tissue in the dorsal neck and face, as well as in the posterior thoracic and abdominal regions. The disorder is associated with metabolic abnormalities, including diabetes mellitus and hyperlipidemia (Garg et al., 2016). For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1846436">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847991"><div><strong>Lipodystrophy, congenital generalized, type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847991</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.">C5882745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital generalized lipodystrophy type 5 (CGL5) is an autosomal recessive metabolic disorder characterized by childhood onset of lipodystrophy, severe nonalcoholic fatty liver disease, dyslipidemia, hypertriglyceridemia, low HDL, and insulin-resistant diabetes mellitus. Affected individuals also have short stature (Payne et al., 2014). For a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847991">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845936"><div><strong>Lipodystrophy, familial partial, type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845936</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.">C5882746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial partial lipodystrophy type 9 (FPLD9) is an autosomal recessive metabolic disorder characterized by the loss of adipose tissue resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Some patients have more generalized lipoatrophy, whereas others have abnormal fat accumulation in the face and neck regions and show cushingoid or acromegalic facial features. The disorder is associated with insulin-resistant diabetes mellitus, dyslipidemia, low HDL, and hepatic steatosis. Symptom onset is usually in the first decade. Females tend to have hirsutism and polycystic ovary syndrome, whereas males have gynecomastia. Most patients also have neurologic involvement, including demyelinating polyneuropathy (in most) and delayed development with intellectual disability (in about half) (Schuermans et al., 2023). For a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845936">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG9 congenital disorder of glycosylation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Analbuminemia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_230818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Barber-Say syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (36)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CIDEC-related familial partial lipodystrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412871" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 4</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutis laxa with osteodystrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Dunnigan type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Kobberling type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay due to insulin-like growth factor I resistance</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset periodic fever-panniculitis-dermatosis syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipase deficiency, combined</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LIPE-related familial partial lipodystrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy, congenital generalized, type 5</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy, familial partial, type 8</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy, familial partial, type 9</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811623" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular hypoplasia-deafness-progeroid syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1757618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia with type A lipodystrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Membranoproliferative glomerulonephritis, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple symmetric lipomatosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1708579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PLIN1-related familial partial lipodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_328393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PPARG-related familial partial lipodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progeroid features-hepatocellular carcinoma predisposition syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648482" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteasome-associated autoinflammatory syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_164212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SHORT syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348877" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stiff skin syndrome</a></div></span></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/29704234">Diagnosis and treatment of lipodystrophy: a step-by-step approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araújo-Vilar D,
|
||
Santini F</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2019 Jan;42(1):61-73.
|
||
Epub 2018 Apr 27
|
||
doi: 10.1007/s40618-018-0887-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29704234" target="_blank">29704234</a><a href="/pmc/articles/PMC6304182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29707877">Evidence-based treatment for gynoid lipodystrophy: A review of the recent literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez Atamoros FM,
|
||
Alcalá Pérez D,
|
||
Asz Sigall D,
|
||
Ávila Romay AA,
|
||
Barba Gastelum JA,
|
||
de la Peña Salcedo JA,
|
||
Escalante Salgado PE,
|
||
Gallardo Palacios GJ,
|
||
Guerrero-Gonzalez GA,
|
||
Morales De la Cerda R,
|
||
Ponce Olivera RM,
|
||
Rossano Soriano F,
|
||
Solís Tinoco E,
|
||
Welsh Hernández EC</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2018 Dec;17(6):977-983.
|
||
Epub 2018 Apr 30
|
||
doi: 10.1111/jocd.12555.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29707877" target="_blank">29707877</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27710244">The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown RJ,
|
||
Araujo-Vilar D,
|
||
Cheung PT,
|
||
Dunger D,
|
||
Garg A,
|
||
Jack M,
|
||
Mungai L,
|
||
Oral EA,
|
||
Patni N,
|
||
Rother KI,
|
||
von Schnurbein J,
|
||
Sorkina E,
|
||
Stanley T,
|
||
Vigouroux C,
|
||
Wabitsch M,
|
||
Williams R,
|
||
Yorifuji T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Dec;101(12):4500-4511.
|
||
Epub 2016 Oct 6
|
||
doi: 10.1210/jc.2016-2466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27710244" target="_blank">27710244</a><a href="/pmc/articles/PMC5155679" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lipodystrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (216)</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/35821558">Lipodystrophy for the Diabetologist-What to Look For.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patni N,
|
||
Garg A</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2022 Sep;22(9):461-470.
|
||
Epub 2022 Jul 11
|
||
doi: 10.1007/s11892-022-01485-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35821558" target="_blank">35821558</a><a href="/pmc/articles/PMC10704567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31380809">What lipodystrophies teach us about the metabolic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mann JP,
|
||
Savage DB</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2019 Aug 5;129(10):4009-4021.
|
||
doi: 10.1172/JCI129190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31380809" target="_blank">31380809</a><a href="/pmc/articles/PMC6763226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27710244">The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown RJ,
|
||
Araujo-Vilar D,
|
||
Cheung PT,
|
||
Dunger D,
|
||
Garg A,
|
||
Jack M,
|
||
Mungai L,
|
||
Oral EA,
|
||
Patni N,
|
||
Rother KI,
|
||
von Schnurbein J,
|
||
Sorkina E,
|
||
Stanley T,
|
||
Vigouroux C,
|
||
Wabitsch M,
|
||
Williams R,
|
||
Yorifuji T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Dec;101(12):4500-4511.
|
||
Epub 2016 Oct 6
|
||
doi: 10.1210/jc.2016-2466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27710244" target="_blank">27710244</a><a href="/pmc/articles/PMC5155679" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18793991">Lipodystrophy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herranz P,
|
||
de Lucas R,
|
||
Pérez-España L,
|
||
Mayor M</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2008 Oct;26(4):569-78, ix.
|
||
doi: 10.1016/j.det.2008.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18793991" target="_blank">18793991</a><a href="/pmc/articles/PMC4947059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11204512">Cellulite: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi AB,
|
||
Vergnanini AL</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2000 Jul;14(4):251-62.
|
||
doi: 10.1046/j.1468-3083.2000.00016.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11204512" target="_blank">11204512</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%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 (1898)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35821558">Lipodystrophy for the Diabetologist-What to Look For.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patni N,
|
||
Garg A</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2022 Sep;22(9):461-470.
|
||
Epub 2022 Jul 11
|
||
doi: 10.1007/s11892-022-01485-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35821558" target="_blank">35821558</a><a href="/pmc/articles/PMC10704567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29704234">Diagnosis and treatment of lipodystrophy: a step-by-step approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Araújo-Vilar D,
|
||
Santini F</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2019 Jan;42(1):61-73.
|
||
Epub 2018 Apr 27
|
||
doi: 10.1007/s40618-018-0887-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29704234" target="_blank">29704234</a><a href="/pmc/articles/PMC6304182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27710244">The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown RJ,
|
||
Araujo-Vilar D,
|
||
Cheung PT,
|
||
Dunger D,
|
||
Garg A,
|
||
Jack M,
|
||
Mungai L,
|
||
Oral EA,
|
||
Patni N,
|
||
Rother KI,
|
||
von Schnurbein J,
|
||
Sorkina E,
|
||
Stanley T,
|
||
Vigouroux C,
|
||
Wabitsch M,
|
||
Williams R,
|
||
Yorifuji T</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Dec;101(12):4500-4511.
|
||
Epub 2016 Oct 6
|
||
doi: 10.1210/jc.2016-2466.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27710244" target="_blank">27710244</a><a href="/pmc/articles/PMC5155679" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27650233">Barraquer-Simons Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small JE,
|
||
Jassam YN,
|
||
Small KM,
|
||
Chea P,
|
||
Popov V,
|
||
Li S,
|
||
Srinivasan J</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2016 Sep;352(3):280-4.
|
||
Epub 2016 May 24
|
||
doi: 10.1016/j.amjms.2016.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27650233" target="_blank">27650233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18793991">Lipodystrophy syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herranz P,
|
||
de Lucas R,
|
||
Pérez-España L,
|
||
Mayor M</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2008 Oct;26(4):569-78, ix.
|
||
doi: 10.1016/j.det.2008.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18793991" target="_blank">18793991</a><a href="/pmc/articles/PMC4947059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%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 (1500)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32865780">Development and Clinical Applications of Antisense Oligonucleotide Gapmers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan L,
|
||
Yokota T</span><br />
|
||
<span class="medgenPMjournal">Methods Mol Biol</span>
|
||
2020;2176:21-47.
|
||
doi: 10.1007/978-1-0716-0771-8_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32865780" target="_blank">32865780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29703450">Insulin related lipodystrophic lesions and hypoglycemia: Double standards?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gentile S,
|
||
Strollo F,
|
||
Della Corte T,
|
||
Marino G,
|
||
Guarino G</span><br />
|
||
<span class="medgenPMjournal">Diabetes Metab Syndr</span>
|
||
2018 Sep;12(5):813-818.
|
||
Epub 2018 Apr 10
|
||
doi: 10.1016/j.dsx.2018.04.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29703450" target="_blank">29703450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21283099">Tesamorelin.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Grunfeld C,
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Dritselis A,
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2011 Feb;10(2):95-6.
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<span class="bold">PMID: </span><a href="/pubmed/21283099" target="_blank">21283099</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/16703779">Poly-L-lactic acid: an overview.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Simamora P,
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Chern W</span><br />
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<span class="medgenPMjournal">J Drugs Dermatol</span>
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2006 May;5(5):436-40.
|
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<span class="bold">PMID: </span><a href="/pubmed/16703779" target="_blank">16703779</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15554738">Poly-L-lactic acid.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Perry CM</span><br />
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<span class="medgenPMjournal">Am J Clin Dermatol</span>
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2004;5(5):361-6; discussion 367-8.
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<span class="bold">PMID: </span><a href="/pubmed/15554738" target="_blank">15554738</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%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 (2396)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/26830284">Fat Matters: Understanding the Role of Adipose Tissue in Health in HIV Infection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Erlandson KM,
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2016 Feb;13(1):20-30.
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<div class="nl"><a target="_blank" href="/pubmed/24088799">Lipodystrophy: beyond generalization?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Freitas P,
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2013 Sep;55(3):253-68.
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<span class="bold">PMID: </span><a href="/pubmed/24088799" target="_blank">24088799</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/16703779">Poly-L-lactic acid: an overview.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Simamora P,
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Chern W</span><br />
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<span class="medgenPMjournal">J Drugs Dermatol</span>
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2006 May;5(5):436-40.
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<span class="bold">PMID: </span><a href="/pubmed/16703779" target="_blank">16703779</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/6530367">Gowers local panatrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Montagna P,
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Medori R,
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Zappia M,
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<span class="medgenPMjournal">Ital J Neurol Sci</span>
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<span class="bold">PMID: </span><a href="/pubmed/6530367" target="_blank">6530367</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/4933543">Generalized lipodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Seip M</span><br />
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<span class="medgenPMjournal">Ergeb Inn Med Kinderheilkd</span>
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1971;31:59-95.
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<span class="bold">PMID: </span><a href="/pubmed/4933543" target="_blank">4933543</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%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 (722)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31573548">Altered adipose tissue and adipocyte function in the pathogenesis of metabolic syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kahn CR,
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Wang G,
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Lee KY</span><br />
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<span class="medgenPMjournal">J Clin Invest</span>
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2019 Oct 1;129(10):3990-4000.
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doi: 10.1172/JCI129187.
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<span class="bold">PMID: </span><a href="/pubmed/31573548" target="_blank">31573548</a><a href="/pmc/articles/PMC6763230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31380809">What lipodystrophies teach us about the metabolic syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mann JP,
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Savage DB</span><br />
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<span class="medgenPMjournal">J Clin Invest</span>
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2019 Aug 5;129(10):4009-4021.
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doi: 10.1172/JCI129190.
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<span class="bold">PMID: </span><a href="/pubmed/31380809" target="_blank">31380809</a><a href="/pmc/articles/PMC6763226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31233501">Congenital lipodystrophy induces severe osteosclerosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Zou W,
|
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Rohatgi N,
|
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Brestoff JR,
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Zhang Y,
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Scheller EL,
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Craft CS,
|
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Brodt MD,
|
||
Migotsky N,
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Silva MJ,
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Harris CA,
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Teitelbaum SL</span><br />
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<span class="medgenPMjournal">PLoS Genet</span>
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2019 Jun;15(6):e1008244.
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Epub 2019 Jun 24
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doi: 10.1371/journal.pgen.1008244.
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<span class="bold">PMID: </span><a href="/pubmed/31233501" target="_blank">31233501</a><a href="/pmc/articles/PMC6611650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26830284">Fat Matters: Understanding the Role of Adipose Tissue in Health in HIV Infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erlandson KM,
|
||
Lake JE</span><br />
|
||
<span class="medgenPMjournal">Curr HIV/AIDS Rep</span>
|
||
2016 Feb;13(1):20-30.
|
||
doi: 10.1007/s11904-016-0298-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26830284" target="_blank">26830284</a><a href="/pmc/articles/PMC4779424" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15554738">Poly-L-lactic acid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perry CM</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2004;5(5):361-6; discussion 367-8.
|
||
doi: 10.2165/00128071-200405050-00010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15554738" target="_blank">15554738</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%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 (1223)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37897174">A systematic review of Radiesse/calcium hydroxylapatite and carboxymethylcellulose: evidence and recommendations for treatment of the face.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Guida S,
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Galadari H</span><br />
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<span class="medgenPMjournal">Int J Dermatol</span>
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2024 Feb;63(2):150-160.
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||
Epub 2023 Oct 28
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doi: 10.1111/ijd.16888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37897174" target="_blank">37897174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37665480">Vitamin D status and supplementation before and after Bariatric Surgery: Recommendations based on a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Giustina A,
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di Filippo L,
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Facciorusso A,
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Adler RA,
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Binkley N,
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Bollerslev J,
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Bouillon R,
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Casanueva FF,
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Cavestro GM,
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Chakhtoura M,
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Conte C,
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Donini LM,
|
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Ebeling PR,
|
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Fassio A,
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Frara S,
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Gagnon C,
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Latella G,
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Marcocci C,
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Mechanick JI,
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Minisola S,
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Rizzoli R,
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Santini F,
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Shaker JL,
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Sempos C,
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Ulivieri FM,
|
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Virtanen JK,
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Napoli N,
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Schafer AL,
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Bilezikian JP</span><br />
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<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
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2023 Dec;24(6):1011-1029.
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Epub 2023 Sep 4
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doi: 10.1007/s11154-023-09831-3.
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||
<span class="bold">PMID: </span><a href="/pubmed/37665480" target="_blank">37665480</a><a href="/pmc/articles/PMC10698146" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35869825">Application of cryolipolysis in adipose tissue: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Resende L,
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Noites A,
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Amorim M</span><br />
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<span class="medgenPMjournal">J Cosmet Dermatol</span>
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2022 Oct;21(10):4122-4132.
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Epub 2022 Aug 9
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doi: 10.1111/jocd.15265.
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||
<span class="bold">PMID: </span><a href="/pubmed/35869825" target="_blank">35869825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35086813">The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cetin Gedik K,
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Lamot L,
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Romano M,
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Demirkaya E,
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Piskin D,
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Torreggiani S,
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Adang LA,
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||
Armangue T,
|
||
Barchus K,
|
||
Cordova DR,
|
||
Crow YJ,
|
||
Dale RC,
|
||
Durrant KL,
|
||
Eleftheriou D,
|
||
Fazzi EM,
|
||
Gattorno M,
|
||
Gavazzi F,
|
||
Hanson EP,
|
||
Lee-Kirsch MA,
|
||
Montealegre Sanchez GA,
|
||
Neven B,
|
||
Orcesi S,
|
||
Ozen S,
|
||
Poli MC,
|
||
Schumacher E,
|
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Tonduti D,
|
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Uss K,
|
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Aletaha D,
|
||
Feldman BM,
|
||
Vanderver A,
|
||
Brogan PA,
|
||
Goldbach-Mansky R</span><br />
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<span class="medgenPMjournal">Ann Rheum Dis</span>
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||
2022 May;81(5):601-613.
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||
Epub 2022 Jan 27
|
||
doi: 10.1136/annrheumdis-2021-221814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35086813" target="_blank">35086813</a><a href="/pmc/articles/PMC9036471" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31111407">Very-low-calorie ketogenic diet (VLCKD) in the management of metabolic diseases: systematic review and consensus statement from the Italian Society of Endocrinology (SIE).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Caprio M,
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Infante M,
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Moriconi E,
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Armani A,
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Fabbri A,
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Mantovani G,
|
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Mariani S,
|
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Lubrano C,
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Poggiogalle E,
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Migliaccio S,
|
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Donini LM,
|
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Basciani S,
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Cignarelli A,
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Conte E,
|
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Ceccarini G,
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Bogazzi F,
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Cimino L,
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Condorelli RA,
|
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La Vignera S,
|
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Calogero AE,
|
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Gambineri A,
|
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Vignozzi L,
|
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Prodam F,
|
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Aimaretti G,
|
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Linsalata G,
|
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Buralli S,
|
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Monzani F,
|
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Aversa A,
|
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Vettor R,
|
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Santini F,
|
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Vitti P,
|
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Gnessi L,
|
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Pagotto U,
|
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Giorgino F,
|
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Colao A,
|
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Lenzi A;
|
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Cardiovascular Endocrinology Club of the Italian Society of Endocrinology</span><br />
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<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2019 Nov;42(11):1365-1386.
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Epub 2019 May 20
|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/31111407" target="_blank">31111407</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lipodystrophy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (41)</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">
|
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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_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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0023787%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0023787%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0023787%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
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|
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<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://clinicaltrials.gov/search?cond=Lipodystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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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=(%22lipodystrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Lipodystrophy%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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