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<meta name="keywords" content="C0854110, diabetes mellitus, insulin-resistant, disease or syndrome, insulin resistant diabetes, insulin resistant diabetes mellitus, insulin-resistant diabetes, insulin-resistant diabetes mellitus, 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="A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=163439
|
||
ConceptID=C0854110
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Insulin-resistant diabetes mellitus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163439</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.">C0854110</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Diabetes mellitus, insulin-resistant; DIABETES MELLITUS, INSULIN-RESISTANT; Insulin resistant diabetes; Insulin resistant diabetes mellitus; Insulin-resistant diabetes</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000831">HP:0000831</a></td></tr>
|
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<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/147670" target="_blank">147670</a></td></tr>
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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>
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<div class="portlet_content ln">A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. [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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=163439" target="_blank" href="/omim/147670">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=163439" ref="ncbi_uid=163439">V</a></span></span><span class="TLline">Insulin-resistant diabetes mellitus</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/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/869176" ref="tree=MeSH" title="MedGen record for Abnormal glucose homeostasis">Abnormal glucose homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/43904" ref="tree=MeSH" title="MedGen record for Insulin resistance">Insulin resistance</a></span><ul><li><span class="matched_ds">Insulin-resistant diabetes mellitus</span><ul><li><span class="TLline"><a href="/medgen/373411" ref="tree=MeSH" title="MedGen record for Insulin-resistant diabetes mellitus at puberty">Insulin-resistant diabetes mellitus at puberty</a></span></li><li><span class="TLline"><a href="/medgen/480266" ref="tree=MeSH" title="MedGen record for Neonatal insulin-dependent diabetes mellitus">Neonatal insulin-dependent diabetes mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/449530" ref="tree=MeSH" title="MedGen record for Transitory neonatal diabetes mellitus">Transitory neonatal diabetes mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/371317" ref="tree=MeSH" title="MedGen record for Diabetes mellitus, transient neonatal, 1">Diabetes mellitus, transient neonatal, 1</a></span></li><li><span class="TLline"><a href="/medgen/372150" ref="tree=MeSH" title="MedGen record for Diabetes mellitus, transient neonatal, 2">Diabetes mellitus, transient neonatal, 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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||
<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>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_78675"><div><strong>Alstrom syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78675</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:">C0268425</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78675">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78783"><div><strong>Rabson-Mendenhall syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78783</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.">C0271695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">INSR-related severe insulin resistance syndrome (INSR-SIRS) comprises a phenotypic spectrum that is a continuum from the severe phenotype of Donohue syndrome to the milder phenotype of Rabson-Mendenhall syndrome (RMS). Donohue syndrome is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction, postnatal growth failure, hypotonia, developmental delay, characteristic facies (proptosis, infraorbital folds, large, low-set, posteriorly rotated ears, thick vermilion of the upper and lower lips, and gingival hypertrophy), and organomegaly involving the heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS, at the milder end of the spectrum, is characterized by severe insulin resistance that, although not as severe as that of Donohue syndrome, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of Donohue syndrome. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78783">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90978"><div><strong>Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90978</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.">C0342284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90978">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140926"><div><strong>Wolcott-Rallison dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140926</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.">C0432217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/140926">Condition Record</a></div></div>
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<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>
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<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>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/164212">Condition Record</a></div></div>
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<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>
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||
<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>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/318591">Condition Record</a></div></div>
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||
<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_332940"><div><strong>Mandibuloacral dysplasia with type B lipodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332940</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.">C1837756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332940">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340317"><div><strong>Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340317</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.">C1849401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340317">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_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_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>
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||
<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_78675" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alstrom syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency</a></div>
|
||
<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>
|
||
<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>
|
||
<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><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia with type B lipodystrophy</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_78783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rabson-Mendenhall syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340317" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome</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_140926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolcott-Rallison dysplasia</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<div class="nl"><a target="_blank" href="/pubmed/20107300">Managing highly insulin-resistant diabetes mellitus: weight loss approaches and medical management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brown A,
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Desai M,
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Taneja D,
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Tannock LR</span><br />
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<span class="medgenPMjournal">Postgrad Med</span>
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2010 Jan;122(1):163-71.
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doi: 10.3810/pgm.2010.01.2110.
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||
<span class="bold">PMID: </span><a href="/pubmed/20107300" target="_blank">20107300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19199918">Obesity: pathophysiology and clinical management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gurevich-Panigrahi T,
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Panigrahi S,
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Wiechec E,
|
||
Los M</span><br />
|
||
<span class="medgenPMjournal">Curr Med Chem</span>
|
||
2009;16(4):506-21.
|
||
doi: 10.2174/092986709787315568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19199918" target="_blank">19199918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14728015">Drug treatment of combined hyperlipidemia.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Wierzbicki AS,
|
||
Mikhailidis DP,
|
||
Wray R</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiovasc Drugs</span>
|
||
2001;1(5):327-36.
|
||
doi: 10.2165/00129784-200101050-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14728015" target="_blank">14728015</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22insulin-resistant%20diabetes%20mellitus%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 (5)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng19" target="_blank">UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019</a></h3>
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|
||
<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/32763832">Assessing insulin sensitivity and resistance in syndromes of severe short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guevara-Aguirre J,
|
||
Teran E,
|
||
Lescano D,
|
||
Guevara C,
|
||
Guevara A,
|
||
Saavedra J,
|
||
Procel P,
|
||
Wasserfall C,
|
||
Gavilanes AWD</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2020 Aug-Oct;53-54:101339.
|
||
Epub 2020 Jul 28
|
||
doi: 10.1016/j.ghir.2020.101339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32763832" target="_blank">32763832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19199918">Obesity: pathophysiology and clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurevich-Panigrahi T,
|
||
Panigrahi S,
|
||
Wiechec E,
|
||
Los M</span><br />
|
||
<span class="medgenPMjournal">Curr Med Chem</span>
|
||
2009;16(4):506-21.
|
||
doi: 10.2174/092986709787315568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19199918" target="_blank">19199918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17095403">Determination of membrane lipid differences in insulin resistant diabetes mellitus type 2 in whites and blacks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allen HG,
|
||
Allen JC,
|
||
Boyd LC,
|
||
Alston-Mills BP,
|
||
Fenner GP</span><br />
|
||
<span class="medgenPMjournal">Nutrition</span>
|
||
2006 Nov-Dec;22(11-12):1096-102.
|
||
doi: 10.1016/j.nut.2006.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17095403" target="_blank">17095403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11091118">Lipoatrophy revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reitman ML,
|
||
Arioglu E,
|
||
Gavrilova O,
|
||
Taylor SI</span><br />
|
||
<span class="medgenPMjournal">Trends Endocrinol Metab</span>
|
||
2000 Dec;11(10):410-6.
|
||
doi: 10.1016/s1043-2760(00)00309-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11091118" target="_blank">11091118</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10075099">Partial lipodystrophy presenting with myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SJ,
|
||
Auchterlonie IA,
|
||
Cole GF,
|
||
Gray ES,
|
||
Dean JC</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1999 Feb;41(2):127-31.
|
||
doi: 10.1017/s0012162299000249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10075099" target="_blank">10075099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Insulin-resistant%20diabetes%20mellitus%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32879144">Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masunaga Y,
|
||
Fujisawa Y,
|
||
Muramatsu M,
|
||
Ono H,
|
||
Inoue T,
|
||
Fukami M,
|
||
Kagami M,
|
||
Saitsu H,
|
||
Ogata T</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2021 Jan 28;68(1):111-117.
|
||
Epub 2020 Sep 3
|
||
doi: 10.1507/endocrj.EJ20-0291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32879144" target="_blank">32879144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27250821">Syndromes with supernumerary teeth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubinsky M,
|
||
Kantaputra PN</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Oct;170(10):2611-6.
|
||
Epub 2016 Jun 2
|
||
doi: 10.1002/ajmg.a.37763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27250821" target="_blank">27250821</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23263437">Rabson-Mendenhall syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta J,
|
||
Daniel JM,
|
||
Vasudevan V</span><br />
|
||
<span class="medgenPMjournal">J Indian Soc Pedod Prev Dent</span>
|
||
2012 Jul-Sep;30(3):279-82.
|
||
doi: 10.4103/0970-4388.105026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23263437" target="_blank">23263437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17554536">Berardinelli-Seip lipodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobashi Y,
|
||
Schoenbaum A,
|
||
Hasserjian RP,
|
||
Rosenthal DI</span><br />
|
||
<span class="medgenPMjournal">Skeletal Radiol</span>
|
||
2007 Oct;36(10):999-1003.
|
||
Epub 2007 Jun 7
|
||
doi: 10.1007/s00256-007-0332-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17554536" target="_blank">17554536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10075099">Partial lipodystrophy presenting with myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SJ,
|
||
Auchterlonie IA,
|
||
Cole GF,
|
||
Gray ES,
|
||
Dean JC</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1999 Feb;41(2):127-31.
|
||
doi: 10.1017/s0012162299000249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10075099" target="_blank">10075099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Insulin-resistant%20diabetes%20mellitus%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 (40)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/7833496">Impaired glycogen synthesis of skeletal muscle in patients with insulin-resistant diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pedersen O,
|
||
Hansen L,
|
||
Bak JF</span><br />
|
||
<span class="medgenPMjournal">J Diabetes Complications</span>
|
||
1994 Oct-Dec;8(4):213-20.
|
||
doi: 10.1016/1056-8727(94)90046-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7833496" target="_blank">7833496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6775883">Insulin resistant diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu XX,
|
||
Wang ZG,
|
||
Qiu CL,
|
||
Zhong XL</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
1980 Nov;93(11):737-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6775883" target="_blank">6775883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5018649">Familial insulin resistant diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">West RJ,
|
||
Borin HZ,
|
||
Turner WM,
|
||
Lloyd JK</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
1972 Feb;47(251):153.
|
||
doi: 10.1136/adc.47.251.153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5018649" target="_blank">5018649</a><a href="/pmc/articles/PMC1648017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4508424">Postpancreatectomy insulin-resistant diabetes mellitus. Improvement after prednisone and 5-fluorouracil.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zarowitz H</span><br />
|
||
<span class="medgenPMjournal">N Y State J Med</span>
|
||
1972 Dec 15;72(24):3005-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4508424" target="_blank">4508424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5945207">Sulfated insulin in mild, moderate, severe and insulin-resistant diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Little JA,
|
||
Arnott JH</span><br />
|
||
<span class="medgenPMjournal">Diabetes</span>
|
||
1966 Jul;15(7):457-65.
|
||
doi: 10.2337/diab.15.7.457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5945207" target="_blank">5945207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Insulin-resistant%20diabetes%20mellitus%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32763832">Assessing insulin sensitivity and resistance in syndromes of severe short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guevara-Aguirre J,
|
||
Teran E,
|
||
Lescano D,
|
||
Guevara C,
|
||
Guevara A,
|
||
Saavedra J,
|
||
Procel P,
|
||
Wasserfall C,
|
||
Gavilanes AWD</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2020 Aug-Oct;53-54:101339.
|
||
Epub 2020 Jul 28
|
||
doi: 10.1016/j.ghir.2020.101339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32763832" target="_blank">32763832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31270292">Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He G,
|
||
Yan Z,
|
||
Sun L,
|
||
Lv Y,
|
||
Guo W,
|
||
Gang X,
|
||
Wang G</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2019 Nov 28;66(11):961-969.
|
||
Epub 2019 Jul 4
|
||
doi: 10.1507/endocrj.EJ19-0014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31270292" target="_blank">31270292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21966946">Oral acanthosis nigricans in chronic hepatitis B with a 21-year follow up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chrysomali E,
|
||
Piperi E,
|
||
Sklavounou-Andrikopoulou A</span><br />
|
||
<span class="medgenPMjournal">J Dermatol</span>
|
||
2011 Dec;38(12):1172-6.
|
||
Epub 2011 Oct 4
|
||
doi: 10.1111/j.1346-8138.2011.01252.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21966946" target="_blank">21966946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10208283">Adult Leigh syndrome with mitochondrial DNA mutation at 8993.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagashima T,
|
||
Mori M,
|
||
Katayama K,
|
||
Nunomura M,
|
||
Nishihara H,
|
||
Hiraga H,
|
||
Tanaka S,
|
||
Goto Y,
|
||
Nagashima K</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
1999 Apr;97(4):416-22.
|
||
doi: 10.1007/s004010051007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10208283" target="_blank">10208283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10075099">Partial lipodystrophy presenting with myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore SJ,
|
||
Auchterlonie IA,
|
||
Cole GF,
|
||
Gray ES,
|
||
Dean JC</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1999 Feb;41(2):127-31.
|
||
doi: 10.1017/s0012162299000249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10075099" target="_blank">10075099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Insulin-resistant%20diabetes%20mellitus%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32879144">Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masunaga Y,
|
||
Fujisawa Y,
|
||
Muramatsu M,
|
||
Ono H,
|
||
Inoue T,
|
||
Fukami M,
|
||
Kagami M,
|
||
Saitsu H,
|
||
Ogata T</span><br />
|
||
<span class="medgenPMjournal">Endocr J</span>
|
||
2021 Jan 28;68(1):111-117.
|
||
Epub 2020 Sep 3
|
||
doi: 10.1507/endocrj.EJ20-0291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32879144" target="_blank">32879144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26259979">Despite higher body fat content, Ecuadorian subjects with Laron syndrome have less insulin resistance and lower incidence of diabetes than their relatives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guevara-Aguirre J,
|
||
Procel P,
|
||
Guevara C,
|
||
Guevara-Aguirre M,
|
||
Rosado V,
|
||
Teran E</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2016 Jun;28:76-8.
|
||
Epub 2015 Aug 5
|
||
doi: 10.1016/j.ghir.2015.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26259979" target="_blank">26259979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24217938">The role of adding metformin in insulin-resistant diabetic pregnant women: a randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim MI,
|
||
Hamdy A,
|
||
Shafik A,
|
||
Taha S,
|
||
Anwar M,
|
||
Faris M</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2014 May;289(5):959-65.
|
||
Epub 2013 Nov 12
|
||
doi: 10.1007/s00404-013-3090-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24217938" target="_blank">24217938</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12546691">Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gollob MH</span><br />
|
||
<span class="medgenPMjournal">Biochem Soc Trans</span>
|
||
2003 Feb;31(Pt 1):228-31.
|
||
doi: 10.1042/bst0310228.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12546691" target="_blank">12546691</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11300445">Improved endothelial function with metformin in type 2 diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mather KJ,
|
||
Verma S,
|
||
Anderson TJ</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2001 Apr;37(5):1344-50.
|
||
doi: 10.1016/s0735-1097(01)01129-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11300445" target="_blank">11300445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Insulin-resistant%20diabetes%20mellitus%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 (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
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|
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</div>
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||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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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=Insulin-resistant%20diabetes%20mellitus" 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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