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<meta name="keywords" content="C5442005, disease or syndrome, micro syndrome, microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism, microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism, warbm, warburg micro syndrome, warburg-sjo-fledelius syndrome, 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="Warburg Micro syndrome-1 (WARBM1) is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro Syndrome Warburg Micro syndrome-2 (WARBM2; 614225) is caused by mutation in the RAB3GAP2 gene (609275) on chromosome 1q41. WARBM3 (614222) is caused by mutation in the RAB18 gene (602207) on chromosome 10p12. WARBM4 (615663) is caused by mutation in the TBC1D20 gene (611663) on chromosome 20p13. Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1781286
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||
ConceptID=C5442005
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Warburg micro syndrome<span class="h1sub">(WARBM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781286</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5442005</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>MICRO SYNDROME</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Warburg micro syndrome (772224009); Micro syndrome (772224009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/128637">TBC1D20</a>, <a target="_blank" href="/gene/25782">RAB3GAP2</a>, <a target="_blank" href="/gene/22931">RAB18</a>, <a target="_blank" href="/gene/22930">RAB3GAP1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016649" target="_blank">MONDO:0016649</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/600118" target="_blank">600118</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS600118" target="_blank">PS600118</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=2510">ORPHA2510</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Warburg Micro syndrome-1 (WARBM1) is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro Syndrome Warburg Micro syndrome-2 (WARBM2; 614225) is caused by mutation in the RAB3GAP2 gene (609275) on chromosome 1q41. WARBM3 (614222) is caused by mutation in the RAB18 gene (602207) on chromosome 10p12. WARBM4 (615663) is caused by mutation in the TBC1D20 gene (611663) on chromosome 20p13. Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. Individuals with Martsolf syndrome have cataracts, microphthalmia, and small pupils. They have milder optic atrophy and cortical visual impairment than people with Warburg micro syndrome. Intellectual disability is mild to moderate in people with Martsolf syndrome. While language and motor skills, such as sitting and walking, are delayed, affected individuals usually acquire them. Hypotonia is common in infants with Martsolf syndrome, although spasticity worsens more slowly than in individuals with Warburg micro syndrome, and it usually affects only the legs and feet. Hypogonadotropic hypogonadism can also occur in individuals with Martsolf syndrome.<br /><br />Some people with Warburg micro syndrome have reduced production of the hormones that direct sexual development (hypogonadotropic hypogonadism). The shortage of these hormones impairs normal development of reproductive organs. Affected males may have a small penis (micropenis) or undescended testes (cryptorchidism). Affected females may have underdeveloped internal genital folds (labia minora) or a small clitoris or vaginal opening (introitus).<br /><br />People with Warburg micro syndrome have severe intellectual disability and other neurological features due to problems with growth and development of the brain. Affected individuals have delayed development and may never be able to sit, stand, walk, or speak. They usually have weak muscle tone (hypotonia) in infancy. By early childhood, they develop muscle stiffness (spasticity) and joint deformities (contractures) that restrict movement in the legs. The muscle problems worsen (progress) to include the arms and lead to paralysis of all four limbs (spastic quadriplegia). Eventually, breathing may be impaired. The brain abnormalities can contribute to vision problems (cortical visual impairment). Individuals with Warburg micro syndrome may also have recurrent seizures (epilepsy).<br /><br />Neither Warburg micro syndrome nor Martsolf syndrome affect the life expectancy of affected individuals.<br /><br />Warburg micro syndrome is the more severe condition. Individuals with this condition have several eye problems from birth, including clouding of the lenses of the eyes (cataracts), abnormally small eyes (microphthalmia), and small corneas (microcornea). The lens is a structure at the front of the eye that helps focus light, and the cornea is the outer covering of the eye. In addition, the pupils of the eyes may be abnormally small (constricted), and they may not enlarge (dilate) in low light. Individuals with Warburg micro syndrome also have degeneration of the nerves that carry visual information from the eyes to the brain (optic atrophy). The eye problems impair vision in affected individuals.<br /><br />RAB18 deficiency causes two conditions with similar signs and symptoms that primarily affect the eyes, brain, and reproductive system. These two conditions, called Warburg micro syndrome and Martsolf syndrome, were once thought to be distinct disorders but are now considered to be part of the same disease spectrum because of their similar features and shared genetic cause. <a target="_blank" href="https://medlineplus.gov/genetics/condition/rab18-deficiency">https://medlineplus.gov/genetics/condition/rab18-deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=C5442005[DISCUI]&test_type=Clinical" ref="ncbi_uid=1781286">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1781286" target="_blank" href="/omim/600118">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1781286" ref="ncbi_uid=1781286">V</a></span></span><span class="TLline">Warburg micro syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838625[DISCUI]&test_type=Clinical" ref="ncbi_uid=333142">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333142" target="_blank" href="/omim/600118">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK475670/" ref="ncbi_uid=333142">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333142" ref="ncbi_uid=333142">V</a></span></span><span class="TLline"><a href="/medgen/333142" ref="tree=GTR&ncbi_uid=333142&link_uid=333142" title="View MedGen record for 'Warburg micro syndrome 1'">Warburg micro syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280214[DISCUI]&test_type=Clinical" ref="ncbi_uid=481844">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481844" target="_blank" href="/omim/609275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK475670/" ref="ncbi_uid=481844">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481844" ref="ncbi_uid=481844">V</a></span></span><span class="TLline"><a href="/medgen/481844" ref="tree=GTR&ncbi_uid=481844&link_uid=481844" title="View MedGen record for 'Warburg micro syndrome 2'">Warburg micro syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280203[DISCUI]&test_type=Clinical" ref="ncbi_uid=481833">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481833" target="_blank" href="/omim/602207">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK475670/" ref="ncbi_uid=481833">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481833" ref="ncbi_uid=481833">V</a></span></span><span class="TLline"><a href="/medgen/481833" ref="tree=GTR&ncbi_uid=481833&link_uid=481833" title="View MedGen record for 'Warburg micro syndrome 3'">Warburg micro syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810265[DISCUI]&test_type=Clinical" ref="ncbi_uid=816595">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816595" target="_blank" href="/omim/611663">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK475670/" ref="ncbi_uid=816595">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816595" ref="ncbi_uid=816595">V</a></span></span><span class="TLline"><a href="/medgen/816595" ref="tree=GTR&ncbi_uid=816595&link_uid=816595" title="View MedGen record for 'Warburg micro syndrome 4'">Warburg micro syndrome 4</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843202" ref="tree=MeSH" title="MedGen record for Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature">Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature</a></span><ul><li><span class="matched_ds">Warburg micro syndrome</span><ul><li><span class="TLline"><a href="/medgen/333142" ref="tree=MeSH" title="MedGen record for Warburg micro syndrome 1">Warburg micro syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481844" ref="tree=MeSH" title="MedGen record for Warburg micro syndrome 2">Warburg micro syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/481833" ref="tree=MeSH" title="MedGen record for Warburg micro syndrome 3">Warburg micro syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/816595" ref="tree=MeSH" title="MedGen record for Warburg micro syndrome 4">Warburg micro syndrome 4</a></span></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/23420520">Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Handley MT,
|
||
Morris-Rosendahl DJ,
|
||
Brown S,
|
||
Macdonald F,
|
||
Hardy C,
|
||
Bem D,
|
||
Carpanini SM,
|
||
Borck G,
|
||
Martorell L,
|
||
Izzi C,
|
||
Faravelli F,
|
||
Accorsi P,
|
||
Pinelli L,
|
||
Basel-Vanagaite L,
|
||
Peretz G,
|
||
Abdel-Salam GM,
|
||
Zaki MS,
|
||
Jansen A,
|
||
Mowat D,
|
||
Glass I,
|
||
Stewart H,
|
||
Mancini G,
|
||
Lederer D,
|
||
Roscioli T,
|
||
Giuliano F,
|
||
Plomp AS,
|
||
Rolfs A,
|
||
Graham JM,
|
||
Seemanova E,
|
||
Poo P,
|
||
García-Cazorla A,
|
||
Edery P,
|
||
Jackson IJ,
|
||
Maher ER,
|
||
Aligianis IA</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2013 May;34(5):686-96.
|
||
doi: 10.1002/humu.22296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23420520" target="_blank">23420520</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22warburg%20micro%20syndrome%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 (1)</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/37774976">Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiss RS,
|
||
Chicoine J,
|
||
Khalil Y,
|
||
Sladek R,
|
||
Chen H,
|
||
Pisaturo A,
|
||
Martin C,
|
||
Dale JD,
|
||
Brudenell TA,
|
||
Kamath A,
|
||
Kyei-Boahen J,
|
||
Hafiane A,
|
||
Daliah G,
|
||
Alecki C,
|
||
Hopes TS,
|
||
Heier M,
|
||
Aligianis IA,
|
||
Lebrun JJ,
|
||
Aspden J,
|
||
Paci E,
|
||
Kerksiek A,
|
||
Lütjohann D,
|
||
Clayton P,
|
||
Wills JC,
|
||
von Kriegsheim A,
|
||
Nilsson T,
|
||
Sheridan E,
|
||
Handley MT</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2023 Nov;299(11):105295.
|
||
Epub 2023 Sep 28
|
||
doi: 10.1016/j.jbc.2023.105295.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37774976" target="_blank">37774976</a><a href="/pmc/articles/PMC10641524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37186309">Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ullah W,
|
||
Ilyas M,
|
||
Tariq M,
|
||
Imdad M,
|
||
Ullah I,
|
||
Efthymiou S,
|
||
Faheem M,
|
||
Abbas M;
|
||
SYNAPS Study Group,
|
||
Aamir M,
|
||
Nouman M,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2023 Jun;83(4):368-373.
|
||
Epub 2023 Apr 25
|
||
doi: 10.1002/jdn.10264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37186309" target="_blank">37186309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
|
||
Ramm M,
|
||
Smith LJ,
|
||
Baron O,
|
||
Singh K,
|
||
Byrne SC,
|
||
Duchen MR,
|
||
Gautel M,
|
||
Eskelinen EL,
|
||
Fanto M,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2022 Mar;18(3):496-517.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1080/15548627.2021.1943177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34130600" target="_blank">34130600</a><a href="/pmc/articles/PMC9037555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25899426">Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arroyo-Carrera I,
|
||
de Zaldívar Tristancho MS,
|
||
Bermejo-Sánchez E,
|
||
Martínez-Fernández ML,
|
||
López-Lafuente A,
|
||
MacDonald A,
|
||
Zúñiga Á,
|
||
Luis Gómez-Skarmeta J,
|
||
Luisa Martínez-Frías M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Jun;167(6):1243-51.
|
||
Epub 2015 Apr 21
|
||
doi: 10.1002/ajmg.a.36878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25899426" target="_blank">25899426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24839169">Genetic disorders associated with postnatal microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seltzer LE,
|
||
Paciorkowski AR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):140-55.
|
||
Epub 2014 May 16
|
||
doi: 10.1002/ajmg.c.31400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24839169" target="_blank">24839169</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warburg%20micro%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36553631">Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Qin T,
|
||
Wang X,
|
||
Li J,
|
||
Lin X,
|
||
Wang D,
|
||
Lin Z,
|
||
Zhang X,
|
||
Li X,
|
||
Lin H,
|
||
Chen W</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Dec 14;13(12)
|
||
doi: 10.3390/genes13122364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36553631" target="_blank">36553631</a><a href="/pmc/articles/PMC9777746" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
|
||
Ramm M,
|
||
Smith LJ,
|
||
Baron O,
|
||
Singh K,
|
||
Byrne SC,
|
||
Duchen MR,
|
||
Gautel M,
|
||
Eskelinen EL,
|
||
Fanto M,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2022 Mar;18(3):496-517.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1080/15548627.2021.1943177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34130600" target="_blank">34130600</a><a href="/pmc/articles/PMC9037555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33951304">From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mutlu Albayrak H,
|
||
Elçioğlu NH,
|
||
Yeter B,
|
||
Karaer K</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Aug;185(8):2325-2334.
|
||
Epub 2021 May 5
|
||
doi: 10.1002/ajmg.a.62234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33951304" target="_blank">33951304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24839169">Genetic disorders associated with postnatal microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seltzer LE,
|
||
Paciorkowski AR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):140-55.
|
||
Epub 2014 May 16
|
||
doi: 10.1002/ajmg.c.31400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24839169" target="_blank">24839169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18463892">Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corbeel L,
|
||
Freson K</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2008 Jul;167(7):723-9.
|
||
Epub 2008 May 8
|
||
doi: 10.1007/s00431-008-0740-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18463892" target="_blank">18463892</a><a href="/pmc/articles/PMC2413085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warburg%20micro%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 (16)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25792360">Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basel-Vanagaite L,
|
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Smirin-Yosef P,
|
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Essakow JL,
|
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Tzur S,
|
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Lagovsky I,
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Maya I,
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Pasmanik-Chor M,
|
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Yeheskel A,
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Konen O,
|
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Orenstein N,
|
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Weisz Hubshman M,
|
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Drasinover V,
|
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Magal N,
|
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Peretz Amit G,
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Zalzstein Y,
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Zeharia A,
|
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Shohat M,
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Straussberg R,
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Monté D,
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Salmon-Divon M,
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Behar DM</span><br />
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<span class="medgenPMjournal">Hum Genet</span>
|
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2015 Jun;134(6):577-87.
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Epub 2015 Mar 20
|
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doi: 10.1007/s00439-015-1541-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25792360" target="_blank">25792360</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warburg%20micro%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37186309">Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ullah W,
|
||
Ilyas M,
|
||
Tariq M,
|
||
Imdad M,
|
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Ullah I,
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Efthymiou S,
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Faheem M,
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Abbas M;
|
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SYNAPS Study Group,
|
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Aamir M,
|
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Nouman M,
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Houlden H</span><br />
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<span class="medgenPMjournal">Int J Dev Neurosci</span>
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2023 Jun;83(4):368-373.
|
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Epub 2023 Apr 25
|
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doi: 10.1002/jdn.10264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37186309" target="_blank">37186309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
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Ramm M,
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Smith LJ,
|
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Baron O,
|
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Singh K,
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Byrne SC,
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Duchen MR,
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Gautel M,
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Eskelinen EL,
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Fanto M,
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Jungbluth H</span><br />
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<span class="medgenPMjournal">Autophagy</span>
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2022 Mar;18(3):496-517.
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Epub 2021 Aug 19
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doi: 10.1080/15548627.2021.1943177.
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||
<span class="bold">PMID: </span><a href="/pubmed/34130600" target="_blank">34130600</a><a href="/pmc/articles/PMC9037555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22768674">Warburg Micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dursun F,
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Güven A,
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Morris-Rosendahl D</span><br />
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<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
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2012;25(3-4):379-82.
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doi: 10.1515/jpem-2011-0459.
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<span class="bold">PMID: </span><a href="/pubmed/22768674" target="_blank">22768674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21473985">Loss-of-function mutations in RAB18 cause Warburg micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bem D,
|
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Yoshimura S,
|
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Nunes-Bastos R,
|
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Bond FC,
|
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Kurian MA,
|
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Rahman F,
|
||
Handley MT,
|
||
Hadzhiev Y,
|
||
Masood I,
|
||
Straatman-Iwanowska AA,
|
||
Cullinane AR,
|
||
McNeill A,
|
||
Pasha SS,
|
||
Kirby GA,
|
||
Foster K,
|
||
Ahmed Z,
|
||
Morton JE,
|
||
Williams D,
|
||
Graham JM,
|
||
Dobyns WB,
|
||
Burglen L,
|
||
Ainsworth JR,
|
||
Gissen P,
|
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Müller F,
|
||
Maher ER,
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Barr FA,
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Aligianis IA</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2011 Apr 8;88(4):499-507.
|
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doi: 10.1016/j.ajhg.2011.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21473985" target="_blank">21473985</a><a href="/pmc/articles/PMC3071920" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20512159">New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris-Rosendahl DJ,
|
||
Segel R,
|
||
Born AP,
|
||
Conrad C,
|
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Loeys B,
|
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Brooks SS,
|
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Müller L,
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Zeschnigk C,
|
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Botti C,
|
||
Rabinowitz R,
|
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Uyanik G,
|
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Crocq MA,
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Kraus U,
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Degen I,
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Faes F</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2010 Oct;18(10):1100-6.
|
||
Epub 2010 May 26
|
||
doi: 10.1038/ejhg.2010.79.
|
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<span class="bold">PMID: </span><a href="/pubmed/20512159" target="_blank">20512159</a><a href="/pmc/articles/PMC2987448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warburg%20micro%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37186309">Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ullah W,
|
||
Ilyas M,
|
||
Tariq M,
|
||
Imdad M,
|
||
Ullah I,
|
||
Efthymiou S,
|
||
Faheem M,
|
||
Abbas M;
|
||
SYNAPS Study Group,
|
||
Aamir M,
|
||
Nouman M,
|
||
Houlden H</span><br />
|
||
<span class="medgenPMjournal">Int J Dev Neurosci</span>
|
||
2023 Jun;83(4):368-373.
|
||
Epub 2023 Apr 25
|
||
doi: 10.1002/jdn.10264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37186309" target="_blank">37186309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26879639">RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Q,
|
||
Sun X,
|
||
Yue W,
|
||
Lu T,
|
||
Ruan Y,
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||
Chen T,
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||
Zhang D</span><br />
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||
<span class="medgenPMjournal">Mol Brain</span>
|
||
2016 Feb 16;9:19.
|
||
doi: 10.1186/s13041-016-0198-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26879639" target="_blank">26879639</a><a href="/pmc/articles/PMC4754921" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25899426">Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arroyo-Carrera I,
|
||
de Zaldívar Tristancho MS,
|
||
Bermejo-Sánchez E,
|
||
Martínez-Fernández ML,
|
||
López-Lafuente A,
|
||
MacDonald A,
|
||
Zúñiga Á,
|
||
Luis Gómez-Skarmeta J,
|
||
Luisa Martínez-Frías M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Jun;167(6):1243-51.
|
||
Epub 2015 Apr 21
|
||
doi: 10.1002/ajmg.a.36878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25899426" target="_blank">25899426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21473985">Loss-of-function mutations in RAB18 cause Warburg micro syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bem D,
|
||
Yoshimura S,
|
||
Nunes-Bastos R,
|
||
Bond FC,
|
||
Kurian MA,
|
||
Rahman F,
|
||
Handley MT,
|
||
Hadzhiev Y,
|
||
Masood I,
|
||
Straatman-Iwanowska AA,
|
||
Cullinane AR,
|
||
McNeill A,
|
||
Pasha SS,
|
||
Kirby GA,
|
||
Foster K,
|
||
Ahmed Z,
|
||
Morton JE,
|
||
Williams D,
|
||
Graham JM,
|
||
Dobyns WB,
|
||
Burglen L,
|
||
Ainsworth JR,
|
||
Gissen P,
|
||
Müller F,
|
||
Maher ER,
|
||
Barr FA,
|
||
Aligianis IA</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2011 Apr 8;88(4):499-507.
|
||
doi: 10.1016/j.ajhg.2011.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21473985" target="_blank">21473985</a><a href="/pmc/articles/PMC3071920" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20512159">New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris-Rosendahl DJ,
|
||
Segel R,
|
||
Born AP,
|
||
Conrad C,
|
||
Loeys B,
|
||
Brooks SS,
|
||
Müller L,
|
||
Zeschnigk C,
|
||
Botti C,
|
||
Rabinowitz R,
|
||
Uyanik G,
|
||
Crocq MA,
|
||
Kraus U,
|
||
Degen I,
|
||
Faes F</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2010 Oct;18(10):1100-6.
|
||
Epub 2010 May 26
|
||
doi: 10.1038/ejhg.2010.79.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20512159" target="_blank">20512159</a><a href="/pmc/articles/PMC2987448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Warburg%20micro%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 (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
||
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|
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|
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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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5442005%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C5442005%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C5442005%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5442005%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS600118" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2510" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Warburg%20micro%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22warburg%20micro%20syndrome%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></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=Warburg%20micro%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/rab18-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5534/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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