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<meta name="keywords" content="11p deletion, 11p deletion syndrome, 11p monosomy, 11p partial monosomy syndrome, C0206115, agr triad, chromosome 11p deletion, chromosome 11p deletion syndrome, chromosome 11p13 deletion syndrome, complex, wagr, contiguous gene syndrome, wagr, del(11)(p13), deletion 11p, deletion 11p13, disease or syndrome, monosomy 11p, monosomy 11p13, partial monosomy 11p, pax6, syndrome, wagr, wagr, wagr (wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome, wagr (wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome, wagr 11p13 deletion syndrome, wagr complex, wagr complices, wagr contiguous gene syndrome, wagr syndrome, wagr syndrome/11p deletion syndrome, wagr syndromes, wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome, wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation, wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome, wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome, wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome, wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome, wilms tumor-aniridia-genital anomalies-retardation syndrome, wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome, wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome, wilms tumor-aniridia-genitourinary anomalies-mr syndrome, wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome, wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome, wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome, wt1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=64512
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||
ConceptID=C0206115
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">11p partial monosomy syndrome<span class="h1sub">(WAGR)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64512</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.">C0206115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>11p deletion syndrome; Chromosome 11p deletion syndrome; CHROMOSOME 11p13 DELETION SYNDROME; WAGR; WAGR Complex; WAGR syndrome; Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Chromosome 11p13 deletion syndrome (715215007); Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (715215007); WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome (715215007); WAGR syndrome (715215007); WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome (715215007); Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome (715215007); 11p partial monosomy syndrome (4135001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PAX6 - ID: 5080 - NCBI Gene" href="/gene/5080" class="medgenPMinfo">PAX6</a> (11p13); <a target="_blank" title="WT1 - ID: 7490 - NCBI Gene" href="/gene/7490" class="medgenPMinfo">WT1</a> (11p13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008681" target="_blank">MONDO:0008681</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/194072" target="_blank">194072</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=893">ORPHA893</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1360" target="_blank">PAX6-Related Aniridia</a></div><div>PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1360#aniridia.Summary" target="NBK1360">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.GeneReview_Scope" target="NBK1360">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Diagnosis" target="NBK1360">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Clinical_Characteristics" target="NBK1360">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Genetically_Related_Allelic_Dis" target="NBK1360">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Differential_Diagnosis" target="NBK1360">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Management" target="NBK1360">Management</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Genetic_Counseling" target="NBK1360">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Resources" target="NBK1360">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Molecular_Genetics" target="NBK1360">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.Chapter_Notes" target="NBK1360">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1360#aniridia.References" target="NBK1360">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Mariya Moosajee | Melanie Hingorani | Anthony T Moore <a href="/books/NBK1360" target="NBK1360" title="NCBI Bookshelf: PAX6-Related Aniridia">view full author information</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults. Some people with WAGR syndrome develop nephrogenic rests, which are abnormal clumps of cells in the kidneys. These can lead to Wilms tumor, but some people with nephrogenic rests never develop Wilms tumor.<br /><br />Most people with WAGR syndrome have aniridia, an absence of the colored part of the eye (the iris). This can reduce the sharpness of a person's vision (visual acuity) and increase sensitivity to light (photophobia). Aniridia is typically the first noticeable sign of WAGR syndrome. Other eye problems may also develop, such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus).<br /><br />WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and a range of developmental delays.<br /><br />Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are seen more frequently in males with WAGR syndrome than in affected females. The most common genitourinary abnormality in affected males is undescended testes (cryptorchidism). Affected females may not have functional ovaries and may instead have undeveloped clumps of tissue called streak gonads. Females with WAGR syndrome may also have a heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy to term.<br /><br />Intellectual disability and other developmental delays are also common in people with WAGR syndrome. Affected individuals often have difficulty processing, learning, and properly responding to information. Many affected individuals have difficulty speaking or understanding language. Some individuals with WAGR syndrome also have psychiatric or behavioral problems such as depression, anxiety, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a developmental disorder called autism spectrum disorder that affects communication and social interaction.<br /><br />Other signs and symptoms of WAGR syndrome can include ongoing constipation, inflammation of the pancreas (pancreatitis), kidney failure, breathing problems, and allergies. Some affected children have obesity. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. <a target="_blank" href="https://medlineplus.gov/genetics/condition/wagr-syndrome">https://medlineplus.gov/genetics/condition/wagr-syndrome</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_10221"><div><strong>Nephroblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10221</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.">C0027708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10221">Feature record</a> | <a href="/medgen?term=%22Nephroblastoma%22%5BClinical%20Features%5D%20OR%2010221%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_104912"><div><strong>Gonadoblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104912</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.">C0206661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/104912">Feature record</a> | <a href="/medgen?term=%22Gonadoblastoma%22%5BClinical%20Features%5D%20OR%20104912%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_8192"><div><strong>Cryptorchidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8192</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.">C0010417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8192">Feature record</a> | <a href="/medgen?term=%22Cryptorchidism%22%5BClinical%20Features%5D%20OR%208192%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_9635"><div><strong>Kidney disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9635</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.">C0022658</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 nonspecific term referring to disease or damage of the kidneys.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9635">Feature record</a> | <a href="/medgen?term=%22Kidney%20disorder%22%5BClinical%20Features%5D%20OR%209635%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_78597"><div><strong>Streak ovary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78597</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.">C0266371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78597">Feature record</a> | <a href="/medgen?term=%22Streak%20ovary%22%5BClinical%20Features%5D%20OR%2078597%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78598"><div><strong>Congenital uterine anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78598</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.">C0266383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality of the uterus.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/78598">Feature record</a> | <a href="/medgen?term=%22Congenital%20uterine%20anomaly%22%5BClinical%20Features%5D%20OR%2078598%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_163083"><div><strong>Hypospadias</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163083</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.">C0848558</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/163083">Feature record</a> | <a href="/medgen?term=%22Hypospadias%22%5BClinical%20Features%5D%20OR%20163083%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_332529"><div><strong>Renal insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332529</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.">C1565489</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 reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332529">Feature record</a> | <a href="/medgen?term=%22Renal%20insufficiency%22%5BClinical%20Features%5D%20OR%20332529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343460"><div><strong>Abnormal vagina morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343460</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.">C1856023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Any structural abnormality of the vagina.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/343460">Feature record</a> | <a href="/medgen?term=%22Abnormal%20vagina%20morphology%22%5BClinical%20Features%5D%20OR%20343460%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_18127"><div><strong>Obesity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18127</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.">C0028754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Accumulation of substantial excess body fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18127">Feature record</a> | <a href="/medgen?term=%22Obesity%22%5BClinical%20Features%5D%20OR%2018127%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1941"><div><strong>Congenital aniridia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1941</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.">C0003076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1941">Feature record</a> | <a href="/medgen?term=%22Congenital%20aniridia%22%5BClinical%20Features%5D%20OR%201941%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital aniridia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343460" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal vagina morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital uterine anomaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8192" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cryptorchidism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypospadias</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kidney disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Streak ovary</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obesity</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gonadoblastoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephroblastoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0206115[DISCUI]&test_type=Clinical" ref="ncbi_uid=64512">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=64512" target="_blank" href="/omim/194072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1360/" ref="ncbi_uid=64512">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=64512" ref="ncbi_uid=64512">V</a></span></span><span class="TLline">11p partial monosomy syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/769757" ref="tree=MeSH" title="MedGen record for Congenital Reproductive System Abnormality">Congenital Reproductive System Abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/415936" ref="tree=MeSH" title="MedGen record for Disorder of sexual differentiation">Disorder of sexual differentiation</a></span><ul><li><span class="TLline"><a href="/medgen/414114" ref="tree=MeSH" title="MedGen record for 46,XY disorder of sex development">46,XY disorder of sex development</a></span><ul><li><span class="matched_ds">11p partial monosomy syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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/28516188">Management of bilateral Wilms tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millar AJW,
|
||
Cox S,
|
||
Davidson A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Jul;33(7):737-745.
|
||
Epub 2017 May 17
|
||
doi: 10.1007/s00383-017-4091-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28516188" target="_blank">28516188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28054101">Management of bilateral Wilms tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millar AJ,
|
||
Cox S,
|
||
Davidson A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Apr;33(4):461-469.
|
||
Epub 2017 Jan 4
|
||
doi: 10.1007/s00383-016-4047-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28054101" target="_blank">28054101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21224893">Clinical utility gene card for: WAGR syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clericuzio C,
|
||
Hingorani M,
|
||
Crolla JA,
|
||
van Heyningen V,
|
||
Verloes A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Apr;19(4)
|
||
Epub 2011 Jan 12
|
||
doi: 10.1038/ejhg.2010.220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21224893" target="_blank">21224893</a><a href="/pmc/articles/PMC3060328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(11p%20partial%20monosomy%20syndrome)%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><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21224893">Clinical utility gene card for: WAGR syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clericuzio C,
|
||
Hingorani M,
|
||
Crolla JA,
|
||
van Heyningen V,
|
||
Verloes A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Apr;19(4)
|
||
Epub 2011 Jan 12
|
||
doi: 10.1038/ejhg.2010.220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21224893" target="_blank">21224893</a><a href="/pmc/articles/PMC3060328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/38326647">WT1-related disorders: more than Denys-Drash syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-Gonzalez M,
|
||
Ariceta G</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Sep;39(9):2601-2609.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s00467-024-06302-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38326647" target="_blank">38326647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33300417">A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lind KT,
|
||
Cost NG,
|
||
Zegar K,
|
||
Kuldanek SA,
|
||
Enzenauer RW,
|
||
Schneider KW</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2021 Apr;42(2):216-217.
|
||
Epub 2020 Dec 10
|
||
doi: 10.1080/13816810.2020.1852577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33300417" target="_blank">33300417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29572054">Nephron-sparing Surgery for Syndromic Wilms' Tumor: Robotic Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yadav P,
|
||
Mahajan A,
|
||
Kandpal DK,
|
||
Chowdhary SK</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2018 Jun;116:172-175.
|
||
Epub 2018 Mar 20
|
||
doi: 10.1016/j.urology.2018.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29572054" target="_blank">29572054</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24713986">Wilms tumor: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Hussain T,
|
||
Ali A,
|
||
Akhtar M</span><br />
|
||
<span class="medgenPMjournal">Adv Anat Pathol</span>
|
||
2014 May;21(3):166-73.
|
||
doi: 10.1097/PAP.0000000000000017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24713986" target="_blank">24713986</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16150380">Genetic and hereditary aspects of childhood obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2005 Sep;19(3):359-74.
|
||
doi: 10.1016/j.beem.2005.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16150380" target="_blank">16150380</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2211p%20partial%20monosomy%20syndrome%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 (54)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38326647">WT1-related disorders: more than Denys-Drash syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez-Gonzalez M,
|
||
Ariceta G</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2024 Sep;39(9):2601-2609.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s00467-024-06302-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38326647" target="_blank">38326647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37742703">An uncommon presentation of WAGR syndrome with persistent fetal vasculature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devaraj A,
|
||
Shetty S,
|
||
Patnaik N,
|
||
Parida H,
|
||
Pandurangan S</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2023 Dec;27(6):357-359.
|
||
Epub 2023 Sep 23
|
||
doi: 10.1016/j.jaapos.2023.07.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37742703" target="_blank">37742703</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36321364">Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yaga T,
|
||
Iguchi A,
|
||
Nakayama R,
|
||
Kosaki R,
|
||
Ishiguro A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2023 Jan;65(1):e15405.
|
||
doi: 10.1111/ped.15405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36321364" target="_blank">36321364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31973833">Central Corneal Pyogenic Granuloma in Aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elbaz E,
|
||
Martin GC,
|
||
Gabison E</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2020 Feb;127(2):197.
|
||
doi: 10.1016/j.ophtha.2019.10.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31973833" target="_blank">31973833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25836705">Common genetic and epigenetic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams DJ,
|
||
Clark DA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Apr;62(2):411-26.
|
||
Epub 2015 Jan 22
|
||
doi: 10.1016/j.pcl.2014.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25836705" target="_blank">25836705</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2211p%20partial%20monosomy%20syndrome%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 (72)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28054101">Management of bilateral Wilms tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millar AJ,
|
||
Cox S,
|
||
Davidson A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Apr;33(4):461-469.
|
||
Epub 2017 Jan 4
|
||
doi: 10.1007/s00383-016-4047-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28054101" target="_blank">28054101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23152176">Bezafibrate to prevent relapsing pancreatitis in WAGR syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diacono D,
|
||
Fagbemi A,
|
||
Puleston J,
|
||
Banerjee I</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2012 Nov 14;2012
|
||
doi: 10.1136/bcr-2012-006413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23152176" target="_blank">23152176</a><a href="/pmc/articles/PMC4543478" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16150380">Genetic and hereditary aspects of childhood obesity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farooqi IS</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2005 Sep;19(3):359-74.
|
||
doi: 10.1016/j.beem.2005.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16150380" target="_blank">16150380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9055487">Wilm's tumour with WAGR complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathur P,
|
||
Khamesera HL,
|
||
Pendse AK,
|
||
Chittora R,
|
||
Porewal KK</span><br />
|
||
<span class="medgenPMjournal">Indian J Cancer</span>
|
||
1996 Sep;33(3):136-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9055487" target="_blank">9055487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2211p%20partial%20monosomy%20syndrome%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791954">Heterogeneity of human WT1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bielińska E,
|
||
Matiakowska K,
|
||
Haus O</span><br />
|
||
<span class="medgenPMjournal">Postepy Hig Med Dosw (Online)</span>
|
||
2017 Jul 11;71(0):595-601.
|
||
doi: 10.5604/01.3001.0010.3840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791954" target="_blank">28791954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28516188">Management of bilateral Wilms tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millar AJW,
|
||
Cox S,
|
||
Davidson A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Jul;33(7):737-745.
|
||
Epub 2017 May 17
|
||
doi: 10.1007/s00383-017-4091-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28516188" target="_blank">28516188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28054101">Management of bilateral Wilms tumours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Millar AJ,
|
||
Cox S,
|
||
Davidson A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2017 Apr;33(4):461-469.
|
||
Epub 2017 Jan 4
|
||
doi: 10.1007/s00383-016-4047-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28054101" target="_blank">28054101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25836705">Common genetic and epigenetic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams DJ,
|
||
Clark DA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2015 Apr;62(2):411-26.
|
||
Epub 2015 Jan 22
|
||
doi: 10.1016/j.pcl.2014.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25836705" target="_blank">25836705</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24713986">Wilms tumor: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Hussain T,
|
||
Ali A,
|
||
Akhtar M</span><br />
|
||
<span class="medgenPMjournal">Adv Anat Pathol</span>
|
||
2014 May;21(3):166-73.
|
||
doi: 10.1097/PAP.0000000000000017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24713986" target="_blank">24713986</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2211p%20partial%20monosomy%20syndrome%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 (34)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37916284">Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torban E,
|
||
Goodyer P</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Renal Physiol</span>
|
||
2024 Jan 1;326(1):F3-F19.
|
||
Epub 2023 Nov 2
|
||
doi: 10.1152/ajprenal.00248.2023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37916284" target="_blank">37916284</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28791954">Heterogeneity of human WT1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bielińska E,
|
||
Matiakowska K,
|
||
Haus O</span><br />
|
||
<span class="medgenPMjournal">Postepy Hig Med Dosw (Online)</span>
|
||
2017 Jul 11;71(0):595-601.
|
||
doi: 10.5604/01.3001.0010.3840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28791954" target="_blank">28791954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20186791">Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erez A,
|
||
Li J,
|
||
Geraghty MT,
|
||
Ben-Shachar S,
|
||
Cooper ML,
|
||
Mensing DE,
|
||
Vonalt KD,
|
||
Ou Z,
|
||
Pursley AN,
|
||
Chinault AC,
|
||
Patel A,
|
||
Cheung SW,
|
||
Sahoo T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2010 Mar;152A(3):732-6.
|
||
doi: 10.1002/ajmg.a.33269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20186791" target="_blank">20186791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7833922">The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pritchard-Jones K,
|
||
Renshaw J,
|
||
King-Underwood L</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1994 Sep;3(9):1633-7.
|
||
doi: 10.1093/hmg/3.9.1633.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7833922" target="_blank">7833922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2198645">Autosomal mendelian disorders and microcytogenetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Grouchy J,
|
||
Turleau C</span><br />
|
||
<span class="medgenPMjournal">Recenti Prog Med</span>
|
||
1990 May;81(5):337-43.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2198645" target="_blank">2198645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2211p%20partial%20monosomy%20syndrome%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 (43)</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/37468803">Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neophytou P,
|
||
Artemiadis A,
|
||
Hadjigeorgiou GM,
|
||
Zis P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1693-1701.
|
||
Epub 2023 Jul 19
|
||
doi: 10.1007/s13760-023-02336-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37468803" target="_blank">37468803</a><a href="/pmc/articles/PMC10505097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33561678">Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Woodford EC,
|
||
McLay L,
|
||
France KG,
|
||
Blampied NM,
|
||
Gibbs R,
|
||
Swan CE,
|
||
Eggleston M</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2021 Jun;57:101433.
|
||
Epub 2021 Jan 17
|
||
doi: 10.1016/j.smrv.2021.101433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33561678" target="_blank">33561678</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%2211p%20partial%20monosomy%20syndrome%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0206115%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (62)</a></li>
|
||
<li><a href="/gtr/tests?term=C0206115%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0206115%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (43)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0206115%5bDISCUI%5d" target="_blank">See all (65)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=194072" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=893" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=11p%20partial%20monosomy%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(11p%20partial%20monosomy%20syndrome)%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(%2211p%20partial%20monosomy%20syndrome%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC3060328/">EuroGenetest, 2011</a><div>Clinical utility gene card for: WAGR syndrome</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607102%20607108" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5080[geneid]" target="_blank">View PAX6 variations in ClinVar</a></li><li><a href="/clinvar/?term=7490[geneid]" target="_blank">View WT1 variations in ClinVar</a></li><li><a href="/nuccore/208879460,219802195" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=194072" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/11p+partial+monosomy+syndrome/7605" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/wilms_tumor_aniridia_genitourinary_anomalies_and_impaired_intellectual_development_syndrome" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=11p%20partial%20monosomy%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/wagr-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5528/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301534" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=11p%20partial%20monosomy%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=11p%20partial%20monosomy%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=64512" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=64512" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0206115[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0206115[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=64512" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=64512" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=64512" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=64512" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=64512" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=64512" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=64512" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=64512" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=64512" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
</div>
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||
</div>
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</section>
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