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<meta name="keywords" content="C0795949, camos, cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities, disease or syndrome, galloway mowat syndrome, galloway syndrome, galloway-mowat syndrome, gamos, hiatal hernia-microcephaly-nephrosis, galloway type, microcephaly nephrosis syndrome, microcephaly, hiatal hernia and nephrotic syndrome, microcephaly, hiatal hernia, and nephrotic syndrome, microcephaly, hiatus hernia, and nephrotic syndrome, microcephaly, hiatus hernia, nephrotic syndrome, microcephaly-hiatus hernia-nephrotic syndrome, nephrosis neuronal dysmigration syndrome, nephrosis, neuronal dysmigration syndrome, nephrosis-microcephaly syndrome, nephrosis-neuronal dysmigration syndrome, spinocerebellar ataxia, autosomal recessive 5, spinocerebellar ataxia, autosomal recessive 5, formerly, 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="Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat Syndrome See also GAMOS2 (301006), caused by mutation in the LAGE3 gene (300060) on chromosome Xq28; GAMOS3 (617729), caused by mutation in the OSGEP gene (610107) on chromosome 14q11; GAMOS4 (617730), caused by mutation in the TP53RK gene (608679) on chromosome 20q13; GAMOS5 (617731), caused by mutation in the TPRKB gene (608680) on chromosome 2p13; GAMOS6 (618347), caused by mutation in the WDR4 gene (605924) on chromosome 21q22; GAMOS7 (618348), caused by mutation in the NUP107 gene (607617) on chromosome 12q15; GAMOS8 (618349), caused by mutation in the NUP133 gene (607613) on chromosome 1q42; GAMOS9 (619603), caused by mutation in the GON7 gene (617436) on chromosome 14q32; and GAMOS10 (619609), caused by mutation in the YRDC gene (612276) on chromosome 1p34." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=167086
|
||
ConceptID=C0795949
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Galloway-Mowat syndrome<span class="h1sub">(CAMOS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167086</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:">C0795949</span></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>GALLOWAY SYNDROME; Microcephaly nephrosis syndrome; Microcephaly, hiatal hernia and nephrotic syndrome; Nephrosis neuronal dysmigration syndrome</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Galloway Mowat syndrome (721297008); Galloway syndrome (721297008); Microcephaly, hiatus hernia, nephrotic syndrome (721297008); Nephrosis, neuronal dysmigration syndrome (721297008)</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="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked 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/112858">TP53RK</a>, <a target="_blank" href="/gene/84942">WDR73</a>, <a target="_blank" href="/gene/55644">OSGEP</a>, <a target="_blank" href="/gene/51002">TPRKB</a>, <a target="_blank" href="/gene/8270">LAGE3</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009627" target="_blank">MONDO:0009627</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/251300" target="_blank">251300</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS251300" target="_blank">PS251300</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=2065">ORPHA2065</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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>
|
||
<div class="portlet_content ln">Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat Syndrome See also GAMOS2 (301006), caused by mutation in the LAGE3 gene (300060) on chromosome Xq28; GAMOS3 (617729), caused by mutation in the OSGEP gene (610107) on chromosome 14q11; GAMOS4 (617730), caused by mutation in the TP53RK gene (608679) on chromosome 20q13; GAMOS5 (617731), caused by mutation in the TPRKB gene (608680) on chromosome 2p13; GAMOS6 (618347), caused by mutation in the WDR4 gene (605924) on chromosome 21q22; GAMOS7 (618348), caused by mutation in the NUP107 gene (607617) on chromosome 12q15; GAMOS8 (618349), caused by mutation in the NUP133 gene (607613) on chromosome 1q42; GAMOS9 (619603), caused by mutation in the GON7 gene (617436) on chromosome 14q32; and GAMOS10 (619609), caused by mutation in the YRDC gene (612276) on chromosome 1p34. [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_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><li><a href="#tabORDO">Orphanet</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=C0795949[DISCUI]&test_type=Clinical" ref="ncbi_uid=167086">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=167086" target="_blank" href="/omim/251300">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=167086" ref="ncbi_uid=167086">V</a></span></span><span class="TLline">Galloway-Mowat 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=C4551772[DISCUI]&test_type=Clinical" ref="ncbi_uid=1634188">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1634188" target="_blank" href="/omim/251300">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=1634188" ref="ncbi_uid=1634188">V</a></span></span><span class="TLline"><a href="/medgen/1634188" ref="tree=GTR&ncbi_uid=1634188&link_uid=1634188" title="View MedGen record for 'Galloway-Mowat syndrome 1'">Galloway-Mowat 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=C4540266[DISCUI]&test_type=Clinical" ref="ncbi_uid=1627611">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1627611" target="_blank" href="/omim/610107">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=1627611" ref="ncbi_uid=1627611">V</a></span></span><span class="TLline"><a href="/medgen/1627611" ref="tree=GTR&ncbi_uid=1627611&link_uid=1627611" title="View MedGen record for 'Galloway-Mowat syndrome 3'">Galloway-Mowat 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=C4540270[DISCUI]&test_type=Clinical" ref="ncbi_uid=1613511">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1613511" target="_blank" href="/omim/608679">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=1613511" ref="ncbi_uid=1613511">V</a></span></span><span class="TLline"><a href="/medgen/1613511" ref="tree=GTR&ncbi_uid=1613511&link_uid=1613511" title="View MedGen record for 'Galloway-Mowat syndrome 4'">Galloway-Mowat syndrome 4</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=C4540274[DISCUI]&test_type=Clinical" ref="ncbi_uid=1617227">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1617227" target="_blank" href="/omim/608680">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=1617227" ref="ncbi_uid=1617227">V</a></span></span><span class="TLline"><a href="/medgen/1617227" ref="tree=GTR&ncbi_uid=1617227&link_uid=1617227" title="View MedGen record for 'Galloway-Mowat syndrome 5'">Galloway-Mowat syndrome 5</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=C4538784[DISCUI]&test_type=Clinical" ref="ncbi_uid=1625619">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1625619" target="_blank" href="/omim/300060">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=1625619" ref="ncbi_uid=1625619">V</a></span></span><span class="TLline"><a href="/medgen/1625619" ref="tree=GTR&ncbi_uid=1625619&link_uid=1625619" title="View MedGen record for 'Galloway-Mowat syndrome 2, X-linked'">Galloway-Mowat syndrome 2, X-linked</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/1826158" ref="tree=MeSH" title="MedGen record for Multiple congenital anomalies/dysmorphic syndrome-intellectual disability">Multiple congenital anomalies/dysmorphic syndrome-intellectual disability</a></span><ul><li><span class="matched_ds">Galloway-Mowat syndrome</span><ul><li><span class="TLline"><a href="/medgen/1634188" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 1">Galloway-Mowat syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1627611" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 3">Galloway-Mowat syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/1613511" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 4">Galloway-Mowat syndrome 4</a></span></li><li><span class="TLline"><a href="/medgen/1617227" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 5">Galloway-Mowat syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/1625619" ref="tree=MeSH" title="MedGen record for Galloway-Mowat syndrome 2, X-linked">Galloway-Mowat syndrome 2, X-linked</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1984&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Galloway-Mowat syndrome</span> in Orphanet.</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/28805828">Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braun DA,
|
||
Rao J,
|
||
Mollet G,
|
||
Schapiro D,
|
||
Daugeron MC,
|
||
Tan W,
|
||
Gribouval O,
|
||
Boyer O,
|
||
Revy P,
|
||
Jobst-Schwan T,
|
||
Schmidt JM,
|
||
Lawson JA,
|
||
Schanze D,
|
||
Ashraf S,
|
||
Ullmann JFP,
|
||
Hoogstraten CA,
|
||
Boddaert N,
|
||
Collinet B,
|
||
Martin G,
|
||
Liger D,
|
||
Lovric S,
|
||
Furlano M,
|
||
Guerrera IC,
|
||
Sanchez-Ferras O,
|
||
Hu JF,
|
||
Boschat AC,
|
||
Sanquer S,
|
||
Menten B,
|
||
Vergult S,
|
||
De Rocker N,
|
||
Airik M,
|
||
Hermle T,
|
||
Shril S,
|
||
Widmeier E,
|
||
Gee HY,
|
||
Choi WI,
|
||
Sadowski CE,
|
||
Pabst WL,
|
||
Warejko JK,
|
||
Daga A,
|
||
Basta T,
|
||
Matejas V,
|
||
Scharmann K,
|
||
Kienast SD,
|
||
Behnam B,
|
||
Beeson B,
|
||
Begtrup A,
|
||
Bruce M,
|
||
Ch'ng GS,
|
||
Lin SP,
|
||
Chang JH,
|
||
Chen CH,
|
||
Cho MT,
|
||
Gaffney PM,
|
||
Gipson PE,
|
||
Hsu CH,
|
||
Kari JA,
|
||
Ke YY,
|
||
Kiraly-Borri C,
|
||
Lai WM,
|
||
Lemyre E,
|
||
Littlejohn RO,
|
||
Masri A,
|
||
Moghtaderi M,
|
||
Nakamura K,
|
||
Ozaltin F,
|
||
Praet M,
|
||
Prasad C,
|
||
Prytula A,
|
||
Roeder ER,
|
||
Rump P,
|
||
Schnur RE,
|
||
Shiihara T,
|
||
Sinha MD,
|
||
Soliman NA,
|
||
Soulami K,
|
||
Sweetser DA,
|
||
Tsai WH,
|
||
Tsai JD,
|
||
Topaloglu R,
|
||
Vester U,
|
||
Viskochil DH,
|
||
Vatanavicharn N,
|
||
Waxler JL,
|
||
Wierenga KJ,
|
||
Wolf MTF,
|
||
Wong SN,
|
||
Leidel SA,
|
||
Truglio G,
|
||
Dedon PC,
|
||
Poduri A,
|
||
Mane S,
|
||
Lifton RP,
|
||
Bouchard M,
|
||
Kannu P,
|
||
Chitayat D,
|
||
Magen D,
|
||
Callewaert B,
|
||
van Tilbeurgh H,
|
||
Zenker M,
|
||
Antignac C,
|
||
Hildebrandt F</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2017 Oct;49(10):1529-1538.
|
||
Epub 2017 Aug 14
|
||
doi: 10.1038/ng.3933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28805828" target="_blank">28805828</a><a href="/pmc/articles/PMC5819591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11045390">A stepwise approach to the treatment of early onset nephrotic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Licht C,
|
||
Eifinger F,
|
||
Gharib M,
|
||
Offner G,
|
||
Michalk DV,
|
||
Querfeld U</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2000 Oct;14(12):1077-82.
|
||
doi: 10.1007/s004670000386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11045390" target="_blank">11045390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22galloway-mowat%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 (2)</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/36755238">Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Y,
|
||
Yang Y,
|
||
Yang Y,
|
||
Rao J,
|
||
Bai H</span><br />
|
||
<span class="medgenPMjournal">BMC Nephrol</span>
|
||
2023 Feb 8;24(1):29.
|
||
doi: 10.1186/s12882-022-03000-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36755238" target="_blank">36755238</a><a href="/pmc/articles/PMC9909869" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30558655">Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin PY,
|
||
Tseng MH,
|
||
Zenker M,
|
||
Rao J,
|
||
Hildebrandt F,
|
||
Lin SH,
|
||
Lin CC,
|
||
Chang JH,
|
||
Hsu CH,
|
||
Lee MD,
|
||
Lin SP,
|
||
Tsai JD</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Dec 17;13(1):226.
|
||
doi: 10.1186/s13023-018-0961-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30558655" target="_blank">30558655</a><a href="/pmc/articles/PMC6296068" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29929488">Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Rakan MA,
|
||
Abothnain MD,
|
||
Alrifai MT,
|
||
Alfadhel M</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2018 Jun 22;18(1):147.
|
||
doi: 10.1186/s12886-018-0820-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29929488" target="_blank">29929488</a><a href="/pmc/articles/PMC6013877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27001912">Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosti RO,
|
||
Dikoglu E,
|
||
Zaki MS,
|
||
Abdel-Salam G,
|
||
Makhseed N,
|
||
Sese JC,
|
||
Musaev D,
|
||
Rosti B,
|
||
Harbert MJ,
|
||
Jones MC,
|
||
Vaux KK,
|
||
Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Apr;170A(4):992-8.
|
||
Epub 2016 Jan 5
|
||
doi: 10.1002/ajmg.a.37533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27001912" target="_blank">27001912</a><a href="/pmc/articles/PMC5011457" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26123727">WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vodopiutz J,
|
||
Seidl R,
|
||
Prayer D,
|
||
Khan MI,
|
||
Mayr JA,
|
||
Streubel B,
|
||
Steiß JO,
|
||
Hahn A,
|
||
Csaicsich D,
|
||
Castro C,
|
||
Assoum M,
|
||
Müller T,
|
||
Wieczorek D,
|
||
Mancini GM,
|
||
Sadowski CE,
|
||
Lévy N,
|
||
Mégarbané A,
|
||
Godbole K,
|
||
Schanze D,
|
||
Hildebrandt F,
|
||
Delague V,
|
||
Janecke AR,
|
||
Zenker M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2015 Nov;36(11):1021-8.
|
||
Epub 2015 Aug 6
|
||
doi: 10.1002/humu.22828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26123727" target="_blank">26123727</a><a href="/pmc/articles/PMC4616260" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galloway-Mowat%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31069511">An unusual case of nephrotic syndrome in a microcephalic infant: Answers.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27001912">Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosti RO,
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Dikoglu E,
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<div class="nl"><a target="_blank" href="/pubmed/8213914">Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cooperstone BG,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galloway-Mowat%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33593823">Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mann N,
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<div class="nl"><a target="_blank" href="/pubmed/31069511">An unusual case of nephrotic syndrome in a microcephalic infant: Answers.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baker E,
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Weaver D,
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Massengill S,
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Mittag D,
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Juusola J,
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Demmer L</span><br />
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Epub 2019 May 8
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doi: 10.1007/s00467-019-04261-3.
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<span class="bold">PMID: </span><a href="/pubmed/31069511" target="_blank">31069511</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/29929488">Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Al-Rakan MA,
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<div class="nl"><a target="_blank" href="/pubmed/19177459">Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Horton AL,
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<div class="nl"><a target="_blank" href="/pubmed/8213914">Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cooperstone BG,
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Friedman A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galloway-Mowat%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38321585">Ulectomy in a patient with nephrotic syndrome under investigation for Galloway-Mowat syndrome: a case report.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30079490">Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.</a></div>
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Shril S,
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Sinha A,
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Schneider R,
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Tan W,
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<div class="nl"><a target="_blank" href="/pubmed/27001912">Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosti RO,
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Dikoglu E,
|
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Zaki MS,
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Abdel-Salam G,
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Makhseed N,
|
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Sese JC,
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Musaev D,
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Rosti B,
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Harbert MJ,
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Jones MC,
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Vaux KK,
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Gleeson JG</span><br />
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Epub 2016 Jan 5
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doi: 10.1002/ajmg.a.37533.
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<span class="bold">PMID: </span><a href="/pubmed/27001912" target="_blank">27001912</a><a href="/pmc/articles/PMC5011457" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15372515">Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Zenker M,
|
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Tralau T,
|
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Lennert T,
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Pitz S,
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Mark K,
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Madlon H,
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Dötsch J,
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Reis A,
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Müntefering H,
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Galloway-Mowat%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 (8)</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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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_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=C0795949%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0795949%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0795949%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0795949%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS251300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2065" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Galloway-Mowat%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22galloway-mowat%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cee6e1a68b6b5afcf27395">Galloway-Mowat syndrome</a>
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