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<!--
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UID=9369
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ConceptID=C0020505
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Polyphagia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9369</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.">C0020505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hyperphagia; Overeating; Polyphagias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Overeats (58424009); Hyperphagia (267023007); Gluttony (267023007); Excessive oral food intake (58424009); Polyphagia (267023007); Excessive eating (267023007); Overeating (58424009)</td></tr>
|
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<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:0002591">HP:0002591</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 neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. [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>
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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="TLline">Polyphagia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/14048" ref="tree=MeSH" title="MedGen record for Atypical behavior">Atypical behavior</a></span><ul><li><span class="TLline"><a href="/medgen/1853184" ref="tree=MeSH" title="MedGen record for Recurrent maladaptive behavior">Recurrent maladaptive behavior</a></span><ul><li><span class="TLline"><a href="/medgen/893108" ref="tree=MeSH" title="MedGen record for Abnormal consumption behavior">Abnormal consumption behavior</a></span><ul><li><span class="TLline"><a href="/medgen/867596" ref="tree=MeSH" title="MedGen record for Abnormal eating behavior">Abnormal eating behavior</a></span><ul><li><span class="matched_ds">Polyphagia</span><ul><li><span class="TLline"><a href="/medgen/684" ref="tree=MeSH" title="MedGen record for Bulimia">Bulimia</a></span></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>
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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">
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||
<div class="divPopper rprt" id="rdis_41522"><div><strong>Diabetes mellitus type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41522</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.">C0011854</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41522">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_46057"><div><strong>Prader-Willi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46057</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.">C0032897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone). A distinctive behavioral phenotype (temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Characteristic facial features, strabismus, and scoliosis are often present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46057">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61511"><div><strong>Kleine-Levin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61511</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.">C0206085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Kleine-Levin hibernation syndrome, a rare disorder that occurs predominantly in males, is characterized by episodic attacks of aberrant behavior, hypersomnia, and increased feeding (megaphagia) and sex drives (Kleine, 1925; Levin, 1929).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61511">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_116020"><div><strong>Pick disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116020</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.">C0236642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120511"><div><strong>Weaver syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120511</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.">C0265210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EZH2-related overgrowth is a variable overgrowth syndrome characterized by tall stature, macrocephaly, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft, doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse, low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant, but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency, though a few have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120511">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83266"><div><strong>Frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83266</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.">C0338451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy. Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104). Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar Degeneration Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21. In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83266">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_318592"><div><strong>Congenital generalized lipodystrophy type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318592</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1720862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/318592">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_318593"><div><strong>Congenital generalized lipodystrophy type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318593</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1720863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/318593">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_334629"><div><strong>Chromosome 1p36 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334629</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.">C1842870</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 constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334629">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_375285"><div><strong>GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375285</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.">C1843792</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 spectrum of GRN frontotemporal dementia (GRN-FTD) includes the behavioral variant (bvFTD), primary progressive aphasia (PPA; further subcategorized as progressive nonfluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome (CBS). A broad range of clinical features both within and between families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375285">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_341133"><div><strong>Hypotonia-cystinuria syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341133</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.">C1848030</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341133">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341307"><div><strong>Graves disease, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341307</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.">C1848795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Graves disease (GRD) is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity. Genetic Heterogeneity of Graves Disease Susceptibility to Graves disease-1 (GRD1) has been mapped to chromosome 14q31. Other susceptibility loci for Graves disease include GRD2 (603388) on chromosome 20q13, GRDX1 (300351) on Xp11, and GRDX2 (see 300351) on Xq21.33-q22. Graves disease has also been mapped to several loci that confer susceptibility to autoimmune thyroid diseases, including Hashimoto thyroiditis (HT; 140300): AITD1 (608173) on 6p11; AITD2 (608174) on 5q31-q33; AITD3 (608175) on 8q24; AITD4 (608176) on 10q, and AITD5 (601941) on 18q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341307">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341863"><div><strong>Obesity due to pro-opiomelanocortin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341863</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.">C1857854</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Early-onset obesity with adrenal insuficiency and red hair (OBAIRH) is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/341863">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_347182"><div><strong>Bardet-Biedl syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347182</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.">C1859567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347182">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_409857"><div><strong>Intellectual disability, autosomal dominant 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409857</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.">C1969562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409857">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_382718"><div><strong>Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382718</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.">C2675904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382718">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_440688"><div><strong>Joubert syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440688</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.">C2749019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/440688">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_462653"><div><strong>Obesity, hyperphagia, and developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462653</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.">C3151303</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/462653">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_757652"><div><strong>Familial renal glucosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>757652</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.">C3245525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per day (Santer and Calado, 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/757652">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_767138"><div><strong>Obesity due to congenital leptin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767138</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.">C3554224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Leptin deficiency or dysfunction (LEPD) is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767138">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_767139"><div><strong>Obesity due to leptin receptor gene deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767139</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.">C3554225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767139">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_816174"><div><strong>Chromosome 22q13 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816174</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.">C3809844</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/816174">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_856021"><div><strong>X-linked acrogigantism due to Xq26 microduplication</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856021</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.">C3891556</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of GPR101. X-linked acrogigantism is characterized by acceleration of linear growth in early childhood – in most cases during the first two years of life – due to growth hormone (GH) excess. Most individuals with X-linked acrogigantism present with associated hyperprolactinemia due to a mixed GH- and prolactin-secreting pituitary adenoma with or without associated hyperplasia; less commonly they develop diffuse hyperplasia of the GH- and prolactin-secreting pituitary cells without a pituitary adenoma. Most affected individuals are females. Growth acceleration is the main presenting feature; other frequently observed clinical features include enlargement of hands and feet, coarsening of the facial features, and increased appetite. Neurologic signs or symptoms are rarely present. Untreated X-linked acrogigantism can lead to markedly increased stature, with obvious severe physical and psychological sequelae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/856021">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_862975"><div><strong>ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862975</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.">C4014538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862975">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_898669"><div><strong>Luscan-Lumish syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898669</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.">C4085873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898669">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_909304"><div><strong>Intellectual disability, autosomal dominant 39</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909304</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.">C4225296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/909304">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1638030"><div><strong>BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638030</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.">C4693522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Patients with biallelic mutations in the ADCY3 gene show hyperphagia within the first 2 years of life and develop severe obesity. Other features include hyposmia or anosmia, and some patients exhibit mild to moderate intellectual disability (Saeed et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638030">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1674972"><div><strong>BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674972</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.">C4759928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1674972">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1710973"><div><strong>CEBALID syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1710973</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.">C5394044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and small low-set ears), and distinctive findings on brain imaging (including perisylvian polymicrogyria and atypical rhombencephalosynapsis). Mild-to-moderate prelingual hearing loss (usually bilateral, conductive, and/or sensorineural) is common. Generalized seizures (observed in the minority of individuals) are responsive to anti-seizure medication. There is an increased risk for craniosynostosis and, thus, increased intracranial pressure. To date, 25 individuals with MCTT syndrome have been identified.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1710973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794146"><div><strong>Bardet-Biedl syndrome 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794146</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.">C5561936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794146">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1807366"><div><strong>Schaaf-Yang syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807366</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.">C5575066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder that shares multiple clinical features with the genetically related Prader-Willi syndrome. It usually manifests at birth with muscular hypotonia in all and distal joint contractures in a majority of affected individuals. Gastrointestinal/feeding problems are particularly pronounced in infancy and childhood, but can transition to hyperphagia and obesity in adulthood. Respiratory distress is present in many individuals at birth, with approximately half requiring intubation and mechanical ventilation, and approximately 20% requiring tracheostomy. Skeletal manifestations such as joint contractures, scoliosis, and decreased bone mineral density are frequently observed. All affected individuals show developmental delay, resulting in intellectual disability of variable degree, from low-normal intelligence to severe intellectual disability. Other findings may include short stature, seizures, eye anomalies, and hypogonadism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1807366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824010"><div><strong>Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824010</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.">C5774237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2) is characterized by failure to thrive apparent in infancy despite adequate caloric intake. Affected individuals show normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrate increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect (Ganetzky et al., 2022). Genetic Heterogeneity of Hypermetabolism due to Uncoupled Mitochondrial Oxidative Phosphorylation See also HUMOP1 (238800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824062"><div><strong>Obesity and hypopigmentation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824062</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.">C5774289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Obesity and hypopigmentation (OBHP) is characterized by early-onset severe obesity and hypopigmentation of the skin. Some affected individuals have red hair, and some experience increased appetite and exhibit reduced energy expenditure (Kempf et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824062">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841073"><div><strong>Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841073</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.">C5830437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-71 with behavioral abnormalities (MRD71) is a neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development. Almost all affected individuals show marked behavioral manifestations, including autism spectrum disorder (ASD), ADHD, hypersensitivity, and aggression. Many have dysmorphic features, although there is not a common gestalt (Harris et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841248"><div><strong>Intellectual developmental disorder, autosomal dominant 72</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841248</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.">C5830612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-72 (MRD72) is characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features (Cuinat et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841248">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854940"><div><strong>Intellectual developmental disorder, x-linked, syndromic 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854940</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.">C5935567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854940">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861832"><div><strong>Neurodevelopmental disorder with progressive movement abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861832</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.">C5935606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, moderately to severely impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function; parkinsonism may develop in older patients. Additional more variable features include seizures, dysmorphic facial features, oculomotor defects, and brain imaging abnormalities (Kaiyrzhanov et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861832">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674972" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (37)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1710973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CEBALID syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p36 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q13 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital generalized lipodystrophy type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_757652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial renal glucosuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341307" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Graves disease, susceptibility to, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GRN-related frontotemporal lobar degeneration with Tdp43 inclusions</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia-cystinuria syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 72</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, x-linked, syndromic 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_909304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 39</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_440688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kleine-Levin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Luscan-Lumish syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with progressive movement abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824062" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity and hypopigmentation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity due to congenital leptin deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity due to leptin receptor gene deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341863" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity due to pro-opiomelanocortin deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity, hyperphagia, and developmental delay</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pick disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_46057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prader-Willi syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1807366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schaaf-Yang syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weaver syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382718" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_856021" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked acrogigantism due to Xq26 microduplication</a></div></span></div></div>
|
||
</div>
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<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/38934057">Genotype-phenotype characteristics of 57 patients with Prader-Willi syndrome: a single-center experience from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torun D,
|
||
Akin O</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2024 Oct 1;33(4):145-151.
|
||
Epub 2024 Jun 18
|
||
doi: 10.1097/MCD.0000000000000506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38934057" target="_blank">38934057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31203247">Diabetes-related symptoms, acute complications and management of diabetes mellitus of patients who are receiving palliative care: a protocol for a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt-Silva R,
|
||
Aguiar B,
|
||
Sá-Araújo V,
|
||
Barreira R,
|
||
Guedes V,
|
||
Marques Ribeiro MJ,
|
||
Carvalho D,
|
||
Östlundh L,
|
||
Paulo MS</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Jun 14;9(6):e028604.
|
||
doi: 10.1136/bmjopen-2018-028604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31203247" target="_blank">31203247</a><a href="/pmc/articles/PMC6589017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23547550">Diabetic ketoacidosis: evaluation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westerberg DP</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2013 Mar 1;87(5):337-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23547550" target="_blank">23547550</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22polyphagia%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 (7)</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/37620840">Hepatic adenoma in a 7-year-old girl: a case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao Y,
|
||
Zhou J,
|
||
Xie YC,
|
||
Qiu LJ,
|
||
Duan L,
|
||
A ZX,
|
||
Wu HF,
|
||
Lv MX</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2023 Aug 24;23(1):420.
|
||
doi: 10.1186/s12887-023-04209-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37620840" target="_blank">37620840</a><a href="/pmc/articles/PMC10464010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36107823">Construction of the experimental rat model of gestational diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
|
||
Ge L,
|
||
Jiang X,
|
||
Lai Y,
|
||
Huang P,
|
||
Hua J,
|
||
Lin Y,
|
||
Lin Y,
|
||
Jiang X</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(9):e0273703.
|
||
Epub 2022 Sep 15
|
||
doi: 10.1371/journal.pone.0273703.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36107823" target="_blank">36107823</a><a href="/pmc/articles/PMC9477341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35296241">Clinical-demographic markers for improving diabetes mellitus diagnosis in people with tuberculosis in Tanzania.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byashalira KC,
|
||
Chamba NG,
|
||
Alkabab Y,
|
||
Mbelele PM,
|
||
Ntinginya NE,
|
||
Ramaiya KL,
|
||
Alimohamed MZ,
|
||
Heysell SK,
|
||
Mmbaga BT,
|
||
Bygbjerg IC,
|
||
Christensen DL,
|
||
Mpagama SG,
|
||
Lillebaek T;
|
||
ADEPT Consortium</span><br />
|
||
<span class="medgenPMjournal">BMC Infect Dis</span>
|
||
2022 Mar 16;22(1):260.
|
||
doi: 10.1186/s12879-022-07249-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35296241" target="_blank">35296241</a><a href="/pmc/articles/PMC8925287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32741562">An update on epidemiology, diagnosis & management of NMO-SD in the tertiary neurology department of Marrakech (Morocco).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kissani N,
|
||
Cherkaoui Rhazouani O,
|
||
Berrhoute L,
|
||
Chraa M,
|
||
Louhab N</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2021 Jan-Feb;177(1-2):80-84.
|
||
Epub 2020 Jul 30
|
||
doi: 10.1016/j.neurol.2020.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32741562" target="_blank">32741562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11887477">The relationship between periodontal diseases and diabetes: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soskolne WA,
|
||
Klinger A</span><br />
|
||
<span class="medgenPMjournal">Ann Periodontol</span>
|
||
2001 Dec;6(1):91-8.
|
||
doi: 10.1902/annals.2001.6.1.91.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11887477" target="_blank">11887477</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polyphagia%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31203247">Diabetes-related symptoms, acute complications and management of diabetes mellitus of patients who are receiving palliative care: a protocol for a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt-Silva R,
|
||
Aguiar B,
|
||
Sá-Araújo V,
|
||
Barreira R,
|
||
Guedes V,
|
||
Marques Ribeiro MJ,
|
||
Carvalho D,
|
||
Östlundh L,
|
||
Paulo MS</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Jun 14;9(6):e028604.
|
||
doi: 10.1136/bmjopen-2018-028604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31203247" target="_blank">31203247</a><a href="/pmc/articles/PMC6589017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25311104">Pituitary image: pituicytoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teti C,
|
||
Castelletti L,
|
||
Allegretti L,
|
||
Talco M,
|
||
Zona G,
|
||
Minuto F,
|
||
Boschetti M,
|
||
Ferone D</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2015 Oct;18(5):592-7.
|
||
doi: 10.1007/s11102-014-0612-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25311104" target="_blank">25311104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24605861">Henoch-Schöenlein purpura and diabetes mellitus in a 9-year-old African-American male.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Souza S,
|
||
Hageman JR,
|
||
Patel P,
|
||
Littlejohn E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2014 Mar;43(3):e61-4.
|
||
doi: 10.3928/00904481-20140221-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24605861" target="_blank">24605861</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23547550">Diabetic ketoacidosis: evaluation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westerberg DP</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2013 Mar 1;87(5):337-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23547550" target="_blank">23547550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8158668">Acanthamoeba keratitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pogson C</span><br />
|
||
<span class="medgenPMjournal">J Ophthalmic Nurs Technol</span>
|
||
1993 May-Jun;12(3):114-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8158668" target="_blank">8158668</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polyphagia%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 (52)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36107823">Construction of the experimental rat model of gestational diabetes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen F,
|
||
Ge L,
|
||
Jiang X,
|
||
Lai Y,
|
||
Huang P,
|
||
Hua J,
|
||
Lin Y,
|
||
Lin Y,
|
||
Jiang X</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(9):e0273703.
|
||
Epub 2022 Sep 15
|
||
doi: 10.1371/journal.pone.0273703.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36107823" target="_blank">36107823</a><a href="/pmc/articles/PMC9477341" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31203247">Diabetes-related symptoms, acute complications and management of diabetes mellitus of patients who are receiving palliative care: a protocol for a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt-Silva R,
|
||
Aguiar B,
|
||
Sá-Araújo V,
|
||
Barreira R,
|
||
Guedes V,
|
||
Marques Ribeiro MJ,
|
||
Carvalho D,
|
||
Östlundh L,
|
||
Paulo MS</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Jun 14;9(6):e028604.
|
||
doi: 10.1136/bmjopen-2018-028604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31203247" target="_blank">31203247</a><a href="/pmc/articles/PMC6589017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23547550">Diabetic ketoacidosis: evaluation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westerberg DP</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2013 Mar 1;87(5):337-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23547550" target="_blank">23547550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23107109">Permanent neonatal diabetes caused by a novel mutation in the INS gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catli G,
|
||
Abaci A,
|
||
Flanagan SE,
|
||
Anik A,
|
||
Ellard S,
|
||
Bober E</span><br />
|
||
<span class="medgenPMjournal">Diabetes Res Clin Pract</span>
|
||
2013 Jan;99(1):e5-8.
|
||
Epub 2012 Oct 27
|
||
doi: 10.1016/j.diabres.2012.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23107109" target="_blank">23107109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17984854">Risperidone-induced polydipsia and polyphagia associated with galactorrhea, abdominal pain, and rapid weight gain in an adolescent Hispanic female.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Afzal KI,
|
||
Briones DF,
|
||
DeVargas C</span><br />
|
||
<span class="medgenPMjournal">CNS Spectr</span>
|
||
2007 Nov;12(11):818-20.
|
||
doi: 10.1017/s1092852900015558.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17984854" target="_blank">17984854</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polyphagia%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 (39)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35296241">Clinical-demographic markers for improving diabetes mellitus diagnosis in people with tuberculosis in Tanzania.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byashalira KC,
|
||
Chamba NG,
|
||
Alkabab Y,
|
||
Mbelele PM,
|
||
Ntinginya NE,
|
||
Ramaiya KL,
|
||
Alimohamed MZ,
|
||
Heysell SK,
|
||
Mmbaga BT,
|
||
Bygbjerg IC,
|
||
Christensen DL,
|
||
Mpagama SG,
|
||
Lillebaek T;
|
||
ADEPT Consortium</span><br />
|
||
<span class="medgenPMjournal">BMC Infect Dis</span>
|
||
2022 Mar 16;22(1):260.
|
||
doi: 10.1186/s12879-022-07249-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35296241" target="_blank">35296241</a><a href="/pmc/articles/PMC8925287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28328532">Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rydzewska M,
|
||
Krawczuk-Rybak M,
|
||
Zajkowska A,
|
||
Jurczuk N,
|
||
Polnik D,
|
||
Szalecki M,
|
||
Moszczyńska E,
|
||
Savage MO,
|
||
Bossowski A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2017 Apr 1;30(4):475-478.
|
||
doi: 10.1515/jpem-2016-0339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28328532" target="_blank">28328532</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17724011">Brunner's missing 'Aha experience' delayed progress in diabetes research by 200 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keck FS,
|
||
Duntas LH</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2007 Jul-Sep;6(3):251-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17724011" target="_blank">17724011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8158668">Acanthamoeba keratitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pogson C</span><br />
|
||
<span class="medgenPMjournal">J Ophthalmic Nurs Technol</span>
|
||
1993 May-Jun;12(3):114-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8158668" target="_blank">8158668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3703301">Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curless RG,
|
||
Flynn J,
|
||
Bachynski B,
|
||
Gregorios JB,
|
||
Benke P,
|
||
Cullen R</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1986 Jun;36(6):872-3.
|
||
doi: 10.1212/wnl.36.6.872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3703301" target="_blank">3703301</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polyphagia%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35296241">Clinical-demographic markers for improving diabetes mellitus diagnosis in people with tuberculosis in Tanzania.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byashalira KC,
|
||
Chamba NG,
|
||
Alkabab Y,
|
||
Mbelele PM,
|
||
Ntinginya NE,
|
||
Ramaiya KL,
|
||
Alimohamed MZ,
|
||
Heysell SK,
|
||
Mmbaga BT,
|
||
Bygbjerg IC,
|
||
Christensen DL,
|
||
Mpagama SG,
|
||
Lillebaek T;
|
||
ADEPT Consortium</span><br />
|
||
<span class="medgenPMjournal">BMC Infect Dis</span>
|
||
2022 Mar 16;22(1):260.
|
||
doi: 10.1186/s12879-022-07249-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35296241" target="_blank">35296241</a><a href="/pmc/articles/PMC8925287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32554837">Efficacy of Qurs-e-Gulnar in Ziabetus (type 2 Diabetes Mellitus): a single blind randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eqbal K,
|
||
Alam MA,
|
||
Quamri MA,
|
||
Sofi G,
|
||
Ahmad Bhat MD</span><br />
|
||
<span class="medgenPMjournal">J Complement Integr Med</span>
|
||
2020 Jun 18;18(1):147-153.
|
||
doi: 10.1515/jcim-2020-0072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32554837" target="_blank">32554837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32367101">Hypoglycemic effects and modulation of gut microbiota of diabetic mice by saponin from Polygonatum sibiricum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo J ,
|
||
Chai Y ,
|
||
Zhao M ,
|
||
Guo Q ,
|
||
Bao Y </span><br />
|
||
<span class="medgenPMjournal">Food Funct</span>
|
||
2020 May 1;11(5):4327-4338.
|
||
Epub 2020 May 5
|
||
doi: 10.1039/d0fo00428f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32367101" target="_blank">32367101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25311104">Pituitary image: pituicytoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teti C,
|
||
Castelletti L,
|
||
Allegretti L,
|
||
Talco M,
|
||
Zona G,
|
||
Minuto F,
|
||
Boschetti M,
|
||
Ferone D</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2015 Oct;18(5):592-7.
|
||
doi: 10.1007/s11102-014-0612-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25311104" target="_blank">25311104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23776152">Hyperphagia among patients with Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sherafat-Kazemzadeh R,
|
||
Ivey L,
|
||
Kahn SR,
|
||
Sapp JC,
|
||
Hicks MD,
|
||
Kim RC,
|
||
Krause AJ,
|
||
Shomaker LB,
|
||
Biesecker LG,
|
||
Han JC,
|
||
Yanovski JA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Obes</span>
|
||
2013 Oct;8(5):e64-7.
|
||
Epub 2013 Jun 18
|
||
doi: 10.1111/j.2047-6310.2013.00182.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23776152" target="_blank">23776152</a><a href="/pmc/articles/PMC3901011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polyphagia%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 (16)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37940619">COVID-19 induced type 1 diabetes: A systematic review of case reports and series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stathi D,
|
||
Triantafyllidis KK,
|
||
Zafeiri M,
|
||
Karalliedde J,
|
||
Kechagias KS</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2023 Nov;51(11):3000605231210403.
|
||
doi: 10.1177/03000605231210403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37940619" target="_blank">37940619</a><a href="/pmc/articles/PMC10637179" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34177811">Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregoric N,
|
||
Groselj U,
|
||
Bratina N,
|
||
Debeljak M,
|
||
Zerjav Tansek M,
|
||
Suput Omladic J,
|
||
Kovac J,
|
||
Battelino T,
|
||
Kotnik P,
|
||
Avbelj Stefanija M</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:689387.
|
||
Epub 2021 Jun 9
|
||
doi: 10.3389/fendo.2021.689387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34177811" target="_blank">34177811</a><a href="/pmc/articles/PMC8220084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Polyphagia%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 (2)</a></div></div>
|
||
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|
||
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|
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|
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|
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|
||
</div>
|
||
|
||
</div>
|
||
</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>
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|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Polyphagia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22polyphagia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Polyphagia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Polyphagia" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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<li>
|
||
<a href="/pubmed/clinical?term=Polyphagia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Polyphagia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
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|
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|
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|
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=9369" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=9369" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=9369" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=9369" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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<ul id="activity">
|
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<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d41a202f30673f7b61bfb8">Polyphagia</a>
|
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<div class="ralinkpop offscreen_noflow">Polyphagia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d41a1e84f3725e59a626c3">Apraxia</a>
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<div class="ralinkpop offscreen_noflow">Apraxia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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