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<!--
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||
UID=75760
|
||
ConceptID=C0271650
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Glucose intolerance</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75760</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.">C0271650</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>Glucose Intolerance; Glucose Intolerances; Glucose Tolerance, Impaired; Glucose Tolerances, Impaired; Impaired Glucose Tolerance; Impaired Glucose Tolerances; Intolerance, Glucose; Intolerances, Glucose; Tolerance, Impaired Glucose; Tolerances, Impaired Glucose</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Impaired glucose tolerance (9414007); Prediabetic nonclinical diabetes (9414007); Latent diabetes (9414007); Chemical diabetes (9414007); Malabsorption of glucose (267426009); IGT - Impaired glucose tolerance (9414007)</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:0001952">HP:0001952</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001076" target="_blank">MONDO:0001076</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>
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||
<div class="portlet_content ln">Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). [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 mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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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=C0271650[DISCUI]&test_type=Clinical" ref="ncbi_uid=75760">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=75760" ref="ncbi_uid=75760">V</a></span></span><span class="TLline">Glucose intolerance</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="matched_ds">Glucose intolerance</span><ul><li><span class="TLline"><a href="/medgen/8350" ref="tree=MeSH" title="MedGen record for Diabetes mellitus">Diabetes mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/417694" ref="tree=MeSH" title="MedGen record for Childhood Diabetes Mellitus">Childhood Diabetes Mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/57645" ref="tree=MeSH" title="MedGen record for Neonatal diabetes mellitus">Neonatal diabetes mellitus</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137965" ref="tree=MeSH" title="MedGen record for Complication due to diabetes mellitus">Complication due to diabetes mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/226813" ref="tree=MeSH" title="MedGen record for Coma due to diabetes mellitus">Coma due to diabetes mellitus</a></span></li><li><span class="TLline"><a href="/medgen/208887" ref="tree=MeSH" title="MedGen record for Diabetic cardiomyopathy">Diabetic cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/8351" ref="tree=MeSH" title="MedGen record for Diabetic ketoacidosis">Diabetic ketoacidosis</a></span></li><li><span class="TLline"><a href="/medgen/8352" ref="tree=MeSH" title="MedGen record for Diabetic kidney disease">Diabetic kidney disease</a></span></li><li><span class="TLline"><a href="/medgen/8353" ref="tree=MeSH" title="MedGen record for Diabetic neuropathy">Diabetic neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/4257" ref="tree=MeSH" title="MedGen record for Diabetic Vascular Disorder">Diabetic Vascular Disorder</a></span></li><li><span class="TLline"><a href="/medgen/823063" ref="tree=MeSH" title="MedGen record for End Organ Damage from Diabetes">End Organ Damage from Diabetes</a></span></li><li><span class="TLline"><a href="/medgen/8824" ref="tree=MeSH" title="MedGen record for Fetal macrosomia">Fetal macrosomia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41522" ref="tree=MeSH" title="MedGen record for Diabetes mellitus type 1">Diabetes mellitus type 1</a></span><ul><li><span class="TLline"><a href="/medgen/21923" ref="tree=MeSH" title="MedGen record for Wolfram syndrome">Wolfram syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/543460" ref="tree=MeSH" title="MedGen record for Diabetes mellitus without complication">Diabetes mellitus without complication</a></span></li><li><span class="TLline"><a href="/medgen/38815" ref="tree=MeSH" title="MedGen record for Gestational diabetes">Gestational diabetes</a></span><ul><li><span class="TLline"><a href="/medgen/543480" ref="tree=MeSH" title="MedGen record for Gestational diabetes mellitus class A1">Gestational diabetes mellitus class A1</a></span></li><li><span class="TLline"><a href="/medgen/543481" ref="tree=MeSH" title="MedGen record for Gestational diabetes mellitus class A2">Gestational diabetes mellitus class A2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/895261" ref="tree=MeSH" title="MedGen record for Latent autoimmune diabetes in adults">Latent autoimmune diabetes in adults</a></span></li><li><span class="TLline"><a href="/medgen/82708" ref="tree=MeSH" title="MedGen record for Leprechaunism syndrome">Leprechaunism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4256" ref="tree=MeSH" title="MedGen record for Lipoatrophic diabetes">Lipoatrophic diabetes</a></span></li><li><span class="TLline"><a href="/medgen/87433" ref="tree=MeSH" title="MedGen record for Maturity onset diabetes mellitus in young">Maturity onset diabetes mellitus in young</a></span><ul><li><span class="TLline"><a href="/medgen/377589" ref="tree=MeSH" title="MedGen record for Maturity-onset diabetes of the young type 1">Maturity-onset diabetes of the young type 1</a></span></li><li><span class="TLline"><a href="/medgen/87434" ref="tree=MeSH" title="MedGen record for Maturity-onset diabetes of the young type 2">Maturity-onset diabetes of the young type 2</a></span></li><li><span class="TLline"><a href="/medgen/324942" ref="tree=MeSH" title="MedGen record for Maturity-onset diabetes of the young type 3">Maturity-onset diabetes of the young type 3</a></span></li><li><span class="TLline"><a href="/medgen/318863" ref="tree=MeSH" title="MedGen record for Maturity-onset diabetes of the young type 4">Maturity-onset diabetes of the young type 4</a></span></li><li><span class="TLline"><a href="/medgen/344030" ref="tree=MeSH" title="MedGen record for Maturity-onset diabetes of the young type 6">Maturity-onset diabetes of the young type 6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1384794" ref="tree=MeSH" title="MedGen record for Mitochondrial Diabetes">Mitochondrial Diabetes</a></span></li><li><span class="TLline"><a href="/medgen/1392102" ref="tree=MeSH" title="MedGen record for Monogenic diabetes">Monogenic diabetes</a></span><ul><li><span class="TLline"><a href="/medgen/87435" ref="tree=MeSH" title="MedGen record for Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes">Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes</a></span></li><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830116" ref="tree=MeSH" title="MedGen record for Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome">Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/929262" ref="tree=MeSH" title="MedGen record for DEND syndrome">DEND syndrome</a></span></li><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/90979" ref="tree=MeSH" title="MedGen record for Diabetes-deafness syndrome maternally transmitted">Diabetes-deafness syndrome maternally transmitted</a></span></li><li><span class="TLline"><a href="/medgen/400532" ref="tree=MeSH" title="MedGen record for H syndrome">H syndrome</a></span></li><li><span class="TLline"><a href="/medgen/116056" ref="tree=MeSH" title="MedGen record for Hereditary pancreatitis">Hereditary pancreatitis</a></span></li><li><span class="TLline"><a href="/medgen/343317" ref="tree=MeSH" title="MedGen record for Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome">Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome</a></span></li><li><span class="TLline"><a href="/medgen/863873" ref="tree=MeSH" title="MedGen record for Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome">Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1385328" ref="tree=MeSH" title="MedGen record for K ATP Channel-Associated Diabetes Mellitus">K ATP Channel-Associated Diabetes Mellitus</a></span></li><li><span class="TLline"><a href="/medgen/1380998" ref="tree=MeSH" title="MedGen record for K ATP Permanent Neonatal Diabetes">K ATP Permanent Neonatal Diabetes</a></span></li><li><span class="TLline"><a href="/medgen/1390291" ref="tree=MeSH" title="MedGen record for Kir6.2-Associated Diabetes Mellitus">Kir6.2-Associated Diabetes Mellitus</a></span></li><li><span class="TLline"><a href="/medgen/83338" ref="tree=MeSH" title="MedGen record for Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness">Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</a></span></li><li><span class="TLline"><a href="/medgen/481870" ref="tree=MeSH" title="MedGen record for Microcephaly, epilepsy, and diabetes syndrome">Microcephaly, epilepsy, and diabetes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/333236" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy with diabetes">Mitochondrial myopathy with diabetes</a></span></li><li><span class="TLline"><a href="/medgen/444022" ref="tree=MeSH" title="MedGen record for Pancreatic hypoplasia-diabetes-congenital heart disease syndrome">Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1675765" ref="tree=MeSH" title="MedGen record for Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome">Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96569" ref="tree=MeSH" title="MedGen record for Renal cysts and diabetes syndrome">Renal cysts and diabetes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1380999" ref="tree=MeSH" title="MedGen record for SUR1-Associated Diabetes Mellitus">SUR1-Associated Diabetes Mellitus</a></span></li><li><span class="TLline"><a href="/medgen/1381352" ref="tree=MeSH" title="MedGen record for Transcription Factor-Associated Monogenic Diabetes">Transcription Factor-Associated Monogenic Diabetes</a></span></li><li><span class="TLline"><a href="/medgen/140926" ref="tree=MeSH" title="MedGen record for Wolcott-Rallison dysplasia">Wolcott-Rallison dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/481988" ref="tree=MeSH" title="MedGen record for Wolfram-like syndrome">Wolfram-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/83337" ref="tree=MeSH" title="MedGen record for Woodhouse-Sakati syndrome">Woodhouse-Sakati syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/856237" ref="tree=MeSH" title="MedGen record for New Onset Diabetes After Transplant">New Onset Diabetes After Transplant</a></span></li><li><span class="TLline"><a href="/medgen/821240" ref="tree=MeSH" title="MedGen record for Pre-Gestational Diabetes">Pre-Gestational Diabetes</a></span></li><li><span class="TLline"><a href="/medgen/83928" ref="tree=MeSH" title="MedGen record for Prediabetes syndrome">Prediabetes syndrome</a></span></li><li><span class="TLline"><a href="/medgen/41523" ref="tree=MeSH" title="MedGen record for Type 2 diabetes mellitus">Type 2 diabetes mellitus</a></span><ul><li><span class="TLline"><a href="/medgen/334070" ref="tree=MeSH" title="MedGen record for Insulin-dependent but ketosis-resistant diabetes">Insulin-dependent but ketosis-resistant diabetes</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/852424" ref="tree=MeSH" title="MedGen record for Impaired glucose tolerance">Impaired glucose tolerance</a></span><ul><li><span class="TLline"><a href="/medgen/339758" ref="tree=MeSH" title="MedGen record for Abnormal oral glucose tolerance">Abnormal oral glucose tolerance</a></span></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_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="divPopper rprt" id="rdis_439"><div><strong>Ataxia-telangiectasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>439</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:">C0004135</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The phenotypic spectrum of ataxia-telangiectasia (A-T), a multisystem disorder, is a continuum ranging from classic A-T at the severe end and variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant A-T on this spectrum helps understand differences in disease course, rate of progression, and life expectancy. Classic A-T is characterized by childhood onset of progressive neurologic manifestations (initially cerebellar ataxia, followed typically by extrapyramidal involvement and peripheral sensorimotor neuropathy), immunodeficiency (variably associated with abnormalities of humoral immunity, cellular immunity, or combined immune deficiency), pulmonary disease (resulting from recurrent infections, immune deficiency, aspiration, interstitial lung disease, and neurologic abnormalities), and increased risk of malignancy. Although it is generally accepted that intellectual disability is not common in A-T, disturbances in cerebellar as well as non-cerebellar brain areas and networks may result in cognitive deficits. Increased sensitivity to ionizing radiation (x-ray and gamma ray) can result in severe side effects from such treatments. Life expectancy is significantly reduced due to cancer, pulmonary disease, and infections. Variant A-T has a significantly milder disease course. While cerebellar ataxia can be absent, extrapyramidal movement disorders are common (typically dystonia and dystonic tremor) and most individuals have manifestations of axonal sensorimotor polyneuropathy. In contrast to classic A-T, immune function is generally normal, respiratory infections are not increased, and pulmonary disease is not a major feature. However, risk of developing malignancies is increased, particularly in premenopausal females who have an increased risk of developing breast cancer and hematologic malignancies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/439">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_61232"><div><strong>Sotos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61232</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.">C0175695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral findings (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/61232">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_59799"><div><strong>Williams syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59799</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.">C0175702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities (early puberty, hypercalcemia, hypercalciuria, hypothyroidism), and distinctive facies. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/59799">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_66381"><div><strong>Pituitary dependent hypercortisolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66381</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.">C0221406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66381">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_576337"><div><strong>Aniridia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>576337</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.">C0344542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/576337">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_96569"><div><strong>Renal cysts and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</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.">C0431693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96569">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162911"><div><strong>Primrose syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162911</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.">C0796121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162911">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_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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/354526">Condition Record</a></div></div>
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<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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332940">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_326949"><div><strong>Skeletal dysplasia-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326949</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.">C1839729</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/326949">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_334557"><div><strong>Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334557</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.">C1843994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/334557">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340044"><div><strong>Hemochromatosis type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340044</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.">C1853733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005). For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/340044">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_350480"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350480</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.">C1864668</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Progressive external ophthalmoplegia-4 (PEOA4) is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/350480">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_370259"><div><strong>Coronary artery disease, autosomal dominant 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370259</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.">C1970440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370259">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482322"><div><strong>Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482322</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.">C3280692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects (Zaki et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854011"><div><strong>Hemochromatosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854011</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.">C3469186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854011">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_815580"><div><strong>Estrogen resistance syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815580</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.">C3809250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes (Bernard et al., 2017). Some patients exhibit continued growth into adulthood (Smith et al., 1994).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815580">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816505"><div><strong>Short-rib thoracic dysplasia 10 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816505</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.">C3810175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816505">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934614"><div><strong>Seckel syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934614</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.">C4310647</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934614">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1741713"><div><strong>Mandibuloacral dysplasia progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1741713</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.">C5436867</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1741713">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1787149"><div><strong>Hypertriglyceridemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1787149</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.">C5444012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1787149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1799164"><div><strong>Combined oxidative phosphorylation defect type 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1799164</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.">C5567741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) is an autosomal recessive multisystemic disorder with highly variable manifestations, even within the same family. Some patients present in infancy with hypotonia and global developmental delay with poor or absent motor skill acquisition and poor growth, whereas others present as young adults with exercise intolerance and muscle weakness. All patients have signs of a peripheral neuropathy, usually demyelinating, with distal muscle weakness and atrophy and distal sensory impairment; many become wheelchair-bound. Additional features include spasticity, extensor plantar responses, contractures, cerebellar signs, seizures, short stature, and rare involvement of other organ systems, including the heart, pancreas, and kidney. Biochemical analysis may show deficiencies in mitochondrial respiratory complex enzyme activities in patient tissue, although this is not always apparent. Lactate is frequently increased, suggesting mitochondrial dysfunction (Powell et al., 2015; Argente-Escrig et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1799164">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_576337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aniridia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia-telangiectasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1799164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation defect type 26</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370259" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronary artery disease, autosomal dominant 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Estrogen resistance syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<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_854011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemochromatosis type 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1787149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertriglyceridemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1741713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibuloacral dysplasia progeroid syndrome</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_482322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome</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_66381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary dependent hypercortisolism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primrose syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cysts and diabetes syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934614" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 10</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_816505" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 10 with or without polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326949" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal dysplasia-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sotos syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Williams 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/33550962">Gestational Diabetes Mellitus Pharmacological Prevention and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chatzakis C,
|
||
Cavoretto P,
|
||
Sotiriadis A</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2021;27(36):3833-3840.
|
||
doi: 10.2174/1381612827666210125155428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33550962" target="_blank">33550962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29959430">Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mantovani G,
|
||
Bastepe M,
|
||
Monk D,
|
||
de Sanctis L,
|
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Thiele S,
|
||
Usardi A,
|
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Ahmed SF,
|
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Bufo R,
|
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Choplin T,
|
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De Filippo G,
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Devernois G,
|
||
Eggermann T,
|
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Elli FM,
|
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Freson K,
|
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García Ramirez A,
|
||
Germain-Lee EL,
|
||
Groussin L,
|
||
Hamdy N,
|
||
Hanna P,
|
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Hiort O,
|
||
Jüppner H,
|
||
Kamenický P,
|
||
Knight N,
|
||
Kottler ML,
|
||
Le Norcy E,
|
||
Lecumberri B,
|
||
Levine MA,
|
||
Mäkitie O,
|
||
Martin R,
|
||
Martos-Moreno GÁ,
|
||
Minagawa M,
|
||
Murray P,
|
||
Pereda A,
|
||
Pignolo R,
|
||
Rejnmark L,
|
||
Rodado R,
|
||
Rothenbuhler A,
|
||
Saraff V,
|
||
Shoemaker AH,
|
||
Shore EM,
|
||
Silve C,
|
||
Turan S,
|
||
Woods P,
|
||
Zillikens MC,
|
||
Perez de Nanclares G,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Aug;14(8):476-500.
|
||
doi: 10.1038/s41574-018-0042-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29959430" target="_blank">29959430</a><a href="/pmc/articles/PMC6541219" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19884662">Acromegaly pathogenesis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Melmed S</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2009 Nov;119(11):3189-202.
|
||
Epub 2009 Nov 2
|
||
doi: 10.1172/JCI39375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19884662" target="_blank">19884662</a><a href="/pmc/articles/PMC2769196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22glucose%20intolerance%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 (327)</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/35585240">Maternal inheritance of glucose intolerance via oocyte TET3 insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Du YR,
|
||
Zhu H,
|
||
Sun ML,
|
||
Wang C,
|
||
Cheng Y,
|
||
Pang H,
|
||
Ding G,
|
||
Gao J,
|
||
Tan Y,
|
||
Tong X,
|
||
Lv P,
|
||
Zhou F,
|
||
Zhan Q,
|
||
Xu ZM,
|
||
Wang L,
|
||
Luo D,
|
||
Ye Y,
|
||
Jin L,
|
||
Zhang S,
|
||
Zhu Y,
|
||
Lin X,
|
||
Wu Y,
|
||
Jin L,
|
||
Zhou Y,
|
||
Yan C,
|
||
Sheng J,
|
||
Flatt PR,
|
||
Xu GL,
|
||
Huang H</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2022 May;605(7911):761-766.
|
||
Epub 2022 May 18
|
||
doi: 10.1038/s41586-022-04756-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35585240" target="_blank">35585240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32296232">Pre-conception management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalra B,
|
||
Punyani H,
|
||
Malhotra N,
|
||
Kalra S</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2020 Apr;70(4):762-763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32296232" target="_blank">32296232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21281837">Diagnosis of prediabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw J</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2011 Mar;95(2):341-52, viii.
|
||
doi: 10.1016/j.mcna.2010.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21281837" target="_blank">21281837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21281833">Definition of prediabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buysschaert M,
|
||
Bergman M</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2011 Mar;95(2):289-97, vii.
|
||
doi: 10.1016/j.mcna.2010.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21281833" target="_blank">21281833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19490820">Pathophysiology of prediabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdul-Ghani MA,
|
||
DeFronzo RA</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2009 Jun;9(3):193-9.
|
||
doi: 10.1007/s11892-009-0032-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19490820" target="_blank">19490820</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucose%20intolerance%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 (7846)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35585240">Maternal inheritance of glucose intolerance via oocyte TET3 insufficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen B,
|
||
Du YR,
|
||
Zhu H,
|
||
Sun ML,
|
||
Wang C,
|
||
Cheng Y,
|
||
Pang H,
|
||
Ding G,
|
||
Gao J,
|
||
Tan Y,
|
||
Tong X,
|
||
Lv P,
|
||
Zhou F,
|
||
Zhan Q,
|
||
Xu ZM,
|
||
Wang L,
|
||
Luo D,
|
||
Ye Y,
|
||
Jin L,
|
||
Zhang S,
|
||
Zhu Y,
|
||
Lin X,
|
||
Wu Y,
|
||
Jin L,
|
||
Zhou Y,
|
||
Yan C,
|
||
Sheng J,
|
||
Flatt PR,
|
||
Xu GL,
|
||
Huang H</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2022 May;605(7911):761-766.
|
||
Epub 2022 May 18
|
||
doi: 10.1038/s41586-022-04756-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35585240" target="_blank">35585240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35272093">Postpartum glucose intolerance following early gestational diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Champion ML,
|
||
Battarbee AN,
|
||
Biggio JR,
|
||
Casey BM,
|
||
Harper LM</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol MFM</span>
|
||
2022 May;4(3):100609.
|
||
Epub 2022 Mar 7
|
||
doi: 10.1016/j.ajogmf.2022.100609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35272093" target="_blank">35272093</a><a href="/pmc/articles/PMC9195159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32762924">Gestational Diabetes: Importance of Follow-up Screening for the Benefit of Long-term Health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thayer SM,
|
||
Lo JO,
|
||
Caughey AB</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol Clin North Am</span>
|
||
2020 Sep;47(3):383-396.
|
||
Epub 2020 May 31
|
||
doi: 10.1016/j.ogc.2020.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32762924" target="_blank">32762924</a><a href="/pmc/articles/PMC7486596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32296232">Pre-conception management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kalra B,
|
||
Punyani H,
|
||
Malhotra N,
|
||
Kalra S</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2020 Apr;70(4):762-763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32296232" target="_blank">32296232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21281833">Definition of prediabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buysschaert M,
|
||
Bergman M</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2011 Mar;95(2):289-97, vii.
|
||
doi: 10.1016/j.mcna.2010.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21281833" target="_blank">21281833</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucose%20intolerance%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 (5290)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35272093">Postpartum glucose intolerance following early gestational diabetes mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Champion ML,
|
||
Battarbee AN,
|
||
Biggio JR,
|
||
Casey BM,
|
||
Harper LM</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol MFM</span>
|
||
2022 May;4(3):100609.
|
||
Epub 2022 Mar 7
|
||
doi: 10.1016/j.ajogmf.2022.100609.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35272093" target="_blank">35272093</a><a href="/pmc/articles/PMC9195159" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34281467">Metformin for diabetes prevention: update of the evidence base.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hostalek U,
|
||
Campbell I</span><br />
|
||
<span class="medgenPMjournal">Curr Med Res Opin</span>
|
||
2021 Oct;37(10):1705-1717.
|
||
Epub 2021 Jul 28
|
||
doi: 10.1080/03007995.2021.1955667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34281467" target="_blank">34281467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32525525">Metabolic Effects of Late Dinner in Healthy Volunteers-A Randomized Crossover Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gu C,
|
||
Brereton N,
|
||
Schweitzer A,
|
||
Cotter M,
|
||
Duan D,
|
||
Børsheim E,
|
||
Wolfe RR,
|
||
Pham LV,
|
||
Polotsky VY,
|
||
Jun JC</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Aug 1;105(8):2789-802.
|
||
doi: 10.1210/clinem/dgaa354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32525525" target="_blank">32525525</a><a href="/pmc/articles/PMC7337187" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23207610">Diabetes and pancreatic cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muniraj T,
|
||
Chari ST</span><br />
|
||
<span class="medgenPMjournal">Minerva Gastroenterol Dietol</span>
|
||
2012 Dec;58(4):331-45.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23207610" target="_blank">23207610</a><a href="/pmc/articles/PMC3932318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11333990">Prevention of type 2 diabetes mellitus by changes in lifestyle among subjects with impaired glucose tolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuomilehto J,
|
||
Lindström J,
|
||
Eriksson JG,
|
||
Valle TT,
|
||
Hämäläinen H,
|
||
Ilanne-Parikka P,
|
||
Keinänen-Kiukaanniemi S,
|
||
Laakso M,
|
||
Louheranta A,
|
||
Rastas M,
|
||
Salminen V,
|
||
Uusitupa M;
|
||
Finnish Diabetes Prevention Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2001 May 3;344(18):1343-50.
|
||
doi: 10.1056/NEJM200105033441801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11333990" target="_blank">11333990</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucose%20intolerance%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 (3776)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36788521">Are HOMA-IR and HOMA-B good predictors for diabetes and pre-diabetes subtypes?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khalili D,
|
||
Khayamzadeh M,
|
||
Kohansal K,
|
||
Ahanchi NS,
|
||
Hasheminia M,
|
||
Hadaegh F,
|
||
Tohidi M,
|
||
Azizi F,
|
||
Habibi-Moeini AS</span><br />
|
||
<span class="medgenPMjournal">BMC Endocr Disord</span>
|
||
2023 Feb 14;23(1):39.
|
||
doi: 10.1186/s12902-023-01291-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36788521" target="_blank">36788521</a><a href="/pmc/articles/PMC9926772" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33769672">Prediabetes and the risk of heart failure: A meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai X,
|
||
Liu X,
|
||
Sun L,
|
||
He Y,
|
||
Zheng S,
|
||
Zhang Y,
|
||
Huang Y</span><br />
|
||
<span class="medgenPMjournal">Diabetes Obes Metab</span>
|
||
2021 Aug;23(8):1746-1753.
|
||
Epub 2021 Apr 8
|
||
doi: 10.1111/dom.14388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33769672" target="_blank">33769672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31036503">Morbidity and mortality after lifestyle intervention for people with impaired glucose tolerance: 30-year results of the Da Qing Diabetes Prevention Outcome Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gong Q,
|
||
Zhang P,
|
||
Wang J,
|
||
Ma J,
|
||
An Y,
|
||
Chen Y,
|
||
Zhang B,
|
||
Feng X,
|
||
Li H,
|
||
Chen X,
|
||
Cheng YJ,
|
||
Gregg EW,
|
||
Hu Y,
|
||
Bennett PH,
|
||
Li G;
|
||
Da Qing Diabetes Prevention Study Group</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2019 Jun;7(6):452-461.
|
||
Epub 2019 Apr 26
|
||
doi: 10.1016/S2213-8587(19)30093-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31036503" target="_blank">31036503</a><a href="/pmc/articles/PMC8172050" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11333990">Prevention of type 2 diabetes mellitus by changes in lifestyle among subjects with impaired glucose tolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuomilehto J,
|
||
Lindström J,
|
||
Eriksson JG,
|
||
Valle TT,
|
||
Hämäläinen H,
|
||
Ilanne-Parikka P,
|
||
Keinänen-Kiukaanniemi S,
|
||
Laakso M,
|
||
Louheranta A,
|
||
Rastas M,
|
||
Salminen V,
|
||
Uusitupa M;
|
||
Finnish Diabetes Prevention Study Group</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2001 May 3;344(18):1343-50.
|
||
doi: 10.1056/NEJM200105033441801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11333990" target="_blank">11333990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9096977">Effects of diet and exercise in preventing NIDDM in people with impaired glucose tolerance. The Da Qing IGT and Diabetes Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pan XR,
|
||
Li GW,
|
||
Hu YH,
|
||
Wang JX,
|
||
Yang WY,
|
||
An ZX,
|
||
Hu ZX,
|
||
Lin J,
|
||
Xiao JZ,
|
||
Cao HB,
|
||
Liu PA,
|
||
Jiang XG,
|
||
Jiang YY,
|
||
Wang JP,
|
||
Zheng H,
|
||
Zhang H,
|
||
Bennett PH,
|
||
Howard BV</span><br />
|
||
<span class="medgenPMjournal">Diabetes Care</span>
|
||
1997 Apr;20(4):537-44.
|
||
doi: 10.2337/diacare.20.4.537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9096977" target="_blank">9096977</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucose%20intolerance%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 (2869)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21281837">Diagnosis of prediabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw J</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2011 Mar;95(2):341-52, viii.
|
||
doi: 10.1016/j.mcna.2010.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21281837" target="_blank">21281837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21143105">The added value of oral glucose tolerance testing in pre-diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luijf YM,
|
||
Hermanides J,
|
||
Serlie MJ,
|
||
Hoekstra JB,
|
||
Soeters MR</span><br />
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||
<span class="medgenPMjournal">Curr Diabetes Rev</span>
|
||
2011 Jan;7(1):56-60.
|
||
doi: 10.2174/157339911794273946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21143105" target="_blank">21143105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19860688">Vascular damage in impaired glucose tolerance: an unappreciated phenomenon?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jessani S,
|
||
Millane T,
|
||
Lip GY</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2009;15(29):3417-32.
|
||
doi: 10.2174/138161209789105072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19860688" target="_blank">19860688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19211315">Establishing diagnosis of gestational diabetes mellitus: Impact of the hyperglycemia and adverse pregnancy outcome study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yogev Y,
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||
Metzger BE,
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||
Hod M</span><br />
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||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2009 Apr;14(2):94-100.
|
||
Epub 2009 Feb 10
|
||
doi: 10.1016/j.siny.2009.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19211315" target="_blank">19211315</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17485582">Implications and treatment of acute hyperglycemia in the setting of acute myocardial infarction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zarich SW,
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||
Nesto RW</span><br />
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||
<span class="medgenPMjournal">Circulation</span>
|
||
2007 May 8;115(18):e436-9.
|
||
doi: 10.1161/CIRCULATIONAHA.105.535732.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17485582" target="_blank">17485582</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucose%20intolerance%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 (3815)</a></div></div>
|
||
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|
||
|
||
<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/36653793">Lifestyle-, environmental-, and additional health factors associated with an increased sperm DNA fragmentation: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szabó A,
|
||
Váncsa S,
|
||
Hegyi P,
|
||
Váradi A,
|
||
Forintos A,
|
||
Filipov T,
|
||
Ács J,
|
||
Ács N,
|
||
Szarvas T,
|
||
Nyirády P,
|
||
Kopa Z</span><br />
|
||
<span class="medgenPMjournal">Reprod Biol Endocrinol</span>
|
||
2023 Jan 18;21(1):5.
|
||
doi: 10.1186/s12958-023-01054-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36653793" target="_blank">36653793</a><a href="/pmc/articles/PMC9847125" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36046745">Gut Microbiota Composition in Prediabetes and Newly Diagnosed Type 2 Diabetes: A Systematic Review of Observational Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Letchumanan G,
|
||
Abdullah N,
|
||
Marlini M,
|
||
Baharom N,
|
||
Lawley B,
|
||
Omar MR,
|
||
Mohideen FBS,
|
||
Addnan FH,
|
||
Nur Fariha MM,
|
||
Ismail Z,
|
||
Pathmanathan SG</span><br />
|
||
<span class="medgenPMjournal">Front Cell Infect Microbiol</span>
|
||
2022;12:943427.
|
||
Epub 2022 Aug 15
|
||
doi: 10.3389/fcimb.2022.943427.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36046745" target="_blank">36046745</a><a href="/pmc/articles/PMC9422273" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34718834">Prediabetes and risk of mortality, diabetes-related complications and comorbidities: umbrella review of meta-analyses of prospective studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schlesinger S,
|
||
Neuenschwander M,
|
||
Barbaresko J,
|
||
Lang A,
|
||
Maalmi H,
|
||
Rathmann W,
|
||
Roden M,
|
||
Herder C</span><br />
|
||
<span class="medgenPMjournal">Diabetologia</span>
|
||
2022 Feb;65(2):275-285.
|
||
Epub 2021 Oct 31
|
||
doi: 10.1007/s00125-021-05592-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34718834" target="_blank">34718834</a><a href="/pmc/articles/PMC8741660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34448957">Efficacy of Ketogenic Diets on Type 2 Diabetes: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tinguely D,
|
||
Gross J,
|
||
Kosinski C</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2021 Aug 27;21(9):32.
|
||
doi: 10.1007/s11892-021-01399-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34448957" target="_blank">34448957</a><a href="/pmc/articles/PMC8397683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20618275">Quantifying the duration of pre-diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertram MY,
|
||
Vos T</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Public Health</span>
|
||
2010 Jun;34(3):311-4.
|
||
doi: 10.1111/j.1753-6405.2010.00532.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20618275" target="_blank">20618275</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Glucose%20intolerance%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 (167)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0271650%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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||
</li>
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||
<li>
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||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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||
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